MUC1

Summary

MUC1 (mucin 1, cell surface associated, HGNC:7508) is a protein-coding gene on chromosome 1q22, encoding Mucin-1 (P15941). The alpha subunit has cell adhesive properties.

This gene encodes a membrane-bound protein that is a member of the mucin family. Mucins are O-glycosylated proteins that play an essential role in forming protective mucous barriers on epithelial surfaces. These proteins also play a role in intracellular signaling. This protein is expressed on the apical surface of epithelial cells that line the mucosal surfaces of many different tissues including lung, breast stomach and pancreas. This protein is proteolytically cleaved into alpha and beta subunits that form a heterodimeric complex. The N-terminal alpha subunit functions in cell-adhesion and the C-terminal beta subunit is involved in cell signaling. Overexpression, aberrant intracellular localization, and changes in glycosylation of this protein have been associated with carcinomas. This gene is known to contain a highly polymorphic variable number tandem repeats (VNTR) domain. Alternate splicing results in multiple transcript variants.

Source: NCBI Gene 4582 — RefSeq curated summary.

At a glance

• Gene–disease (curated): tubulointerstitial kidney disease, autosomal dominant, 2 (Definitive, ClinGen)
• GWAS associations: 34
• Clinical variants (ClinVar): 159 total — 3 pathogenic, 6 likely-pathogenic
• Phenotypes (HPO): 21
• Druggable target: yes

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:7508
Approved symbol	MUC1
Name	mucin 1, cell surface associated
Location	1q22
Locus type	gene with protein product
Status	Approved
Aliases	CD227, PEM, ADMCKD, ADMCKD1, MCKD, MCD, KL-6, EMA, Ca15-3
Ensembl gene	ENSG00000185499
Ensembl biotype	protein_coding
OMIM	158340
Entrez	4582

Gene structure

Transcript identifiers

Ensembl transcripts: 26 — 18 protein_coding, 5 nonsense_mediated_decay, 2 retained_intron, 1 protein_coding_CDS_not_defined

ENST00000337604, ENST00000338684, ENST00000342482, ENST00000343256, ENST00000368389, ENST00000368390, ENST00000368392, ENST00000368393, ENST00000368396, ENST00000368398, ENST00000438413, ENST00000457295, ENST00000462215, ENST00000462317, ENST00000466913, ENST00000467134, ENST00000468978, ENST00000471283, ENST00000485118, ENST00000498431, ENST00000610359, ENST00000610468, ENST00000614519, ENST00000615517, ENST00000620103, ENST00000620770

RefSeq mRNA: 21 — MANE Select: None NM_001018016, NM_001018017, NM_001044390, NM_001044391, NM_001044392, NM_001044393, NM_001204285, NM_001204286, NM_001204287, NM_001204288, NM_001204289, NM_001204290, NM_001204291, NM_001204292, NM_001204293, NM_001204294, NM_001204295, NM_001204296, NM_001204297, NM_001371720, NM_002456

CCDS: CCDS1098, CCDS30882, CCDS30883, CCDS41408, CCDS41409, CCDS55640, CCDS55641, CCDS55642, CCDS72934, CCDS72935, CCDS72936

Canonical transcript exons

ENST00000337604 — 8 exons

Exon	Start	End
ENSE00001385434	155188163	155188285
ENSE00001908335	155192786	155192868
ENSE00003532193	155188008	155188063
ENSE00003538960	155187722	155187858
ENSE00003585635	155186123	155186209
ENSE00003619154	155192183	155192283
ENSE00003727475	155187455	155187576
ENSE00003744251	155187225	155187374

Expression profiles

Bgee: expression breadth ubiquitous, 247 present calls, max score 99.76.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 20.5616 / max 3239.9443, expressed in 1167 samples.

FANTOM5 promoters (6 alternative TSS)

Promoter ID	TPM avg	Samples expressed
14910	17.2454	472
14913	2.2942	831
14911	0.5771	289
14906	0.3313	176
14907	0.1016	50
14912	0.0120	3

Top tissues by expression

280 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
pylorus	UBERON:0001166	99.76	gold quality
pancreatic ductal cell	CL:0002079	99.66	gold quality
nasal cavity epithelium	UBERON:0005384	99.65	gold quality
right uterine tube	UBERON:0001302	99.55	gold quality
metanephros cortex	UBERON:0010533	99.55	gold quality
lower esophagus mucosa	UBERON:0035834	99.39	gold quality
cardia of stomach	UBERON:0001162	99.38	gold quality
nasal cavity mucosa	UBERON:0001826	99.30	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	99.28	gold quality
lower lobe of lung	UBERON:0008949	99.27	gold quality
buccal mucosa cell	CL:0002336	99.13	gold quality
mucosa of stomach	UBERON:0001199	99.02	gold quality
palpebral conjunctiva	UBERON:0001812	98.88	gold quality
gall bladder	UBERON:0002110	98.88	gold quality
body of pancreas	UBERON:0001150	98.73	gold quality
body of stomach	UBERON:0001161	98.73	gold quality
bronchial epithelial cell	CL:0002328	98.70	gold quality
mucosa of transverse colon	UBERON:0004991	98.64	gold quality
epithelium of bronchus	UBERON:0002031	98.63	gold quality
bronchus	UBERON:0002185	98.60	gold quality
upper lobe of lung	UBERON:0008948	98.59	gold quality
upper lobe of left lung	UBERON:0008952	98.53	gold quality
renal medulla	UBERON:0000362	98.52	gold quality
stomach	UBERON:0000945	98.42	gold quality
right lung	UBERON:0002167	98.39	gold quality
esophagus squamous epithelium	UBERON:0006920	98.29	gold quality
pharyngeal mucosa	UBERON:0000355	98.00	gold quality
esophagus mucosa	UBERON:0002469	97.99	gold quality
rectum	UBERON:0001052	97.93	gold quality
visceral pleura	UBERON:0002401	97.87	gold quality

Single-cell (SCXA)

Detected in 16 experiment(s), a significant marker in 16.

Experiment	Marker?	Max mean expression
E-MTAB-10855	yes	1957.18
E-HCAD-15	yes	1641.91
E-MTAB-6308	yes	1385.36
E-MTAB-5061	yes	1365.47
E-MTAB-6653	yes	1230.47
E-MTAB-8221	yes	940.08
E-MTAB-10662	yes	923.77
E-HCAD-1	yes	111.42
E-CURD-114	yes	57.46
E-GEOD-125970	yes	49.91
E-GEOD-130148	yes	24.03
E-MTAB-8410	yes	23.34
E-HCAD-10	yes	12.32
E-MTAB-6678	yes	8.89
E-ENAD-27	yes	7.23

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

3 targets.

Target	Regulation
CCN2
CDKN1A	Activation
JUN	Repression

Upstream regulators (CollecTRI, top): AR, DNMT1, ESR1, ESR2, FOXC1, GATA1, GATA3, HIF1A, MYC, MZF1, NFKB, PGR, PIAS1, PIAS2, PIAS3, PIAS4, PPARA, PPARD, PPARG, RELA, SNAI1, SP1, STAT1, STAT3, STAT5A, STAT5B, TBXT, TP53, YBX3, YY1, ZBTB33, ZEB1

miRNA regulators (miRDB)

3 targeting MUC1, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-4669	97.94	62.71	224
HSA-MIR-1291	96.28	65.89	1224
HSA-MIR-6775-3P	95.76	65.91	982

Literature-anchored findings (GeneRIF, showing 40)

• MUC1 immunoreactivity correlates with malignant transformation in the colorectum (PMID:11813869)
• marker for discriminating hepatocellular carcinoma from other carcinomas (PMID:11836704)
• Tyrosine kinase c-Src constitutes a bridge between cystic fibrosis transmembrane regulator channel failure and MUC1 overexpression in cystic fibrosis (PMID:11872746)
• The present results demonstrate that MUC1 associates with protein kinase Cdelta (PKCdelta). (PMID:11877440)
• expression may be very useful predictor of surgical outcome in mass-forming intrahepatic cholangiocarcinoma (PMID:11920540)
• 2 new DHS are in the MUC1 promoter at -750 bp and -250 bp from the transcriptional start site. They are seen in human cell lines and a transgene. The -250 DHS is undetectable in cell lines from colon adenoma to carcinoma with reduced MUC1 expression. (PMID:11984004)
• Endogenous MUC1 from T47D and MCF-7 cell supernatants revealed almost identical O-glycosylation profiles compared with the respective recombinant probes, indicating that the fusion proteins reflected the authentic O-glycan profiles of the cells (PMID:12000758)
• Formation of MUC1 metabolic complex is conserved in tumor-derived and normal epithelial cells (PMID:12054500)
• biosynthesis in breast cancer cell is altered by factors affecting cell proliferation (PMID:12088101)
• Non-glycosylated tandem repeats of MUC1 facilitate attachment of breast tumor cells to normal human lung tissue and immobilized extracellular matrix proteins (ECM) in vitro and have a potential role in metastasis. (PMID:12090474)
• Altered expression and allelic association of the hypervariable membrane mucin MUC1 in Helicobacter pylori gastritis. (PMID:12105832)
• MUC1 is regulated by ZEB1 in epithelial cells (PMID:12161443)
• Constitutive and inducible expression of MUC1 in human T cells (PMID:12372344)
• CD227 is expressed on human and murine activated dendritic cells (PMID:12377938)
• shedding is mediated by tumor necrosis factor-alpha converting enzyme/ADAM 17. (PMID:12441351)
• The invasive behavior of breast cell lines may depend on different expression patterns of the MUCI gene determined by a genetic polymorphism. (PMID:12462382)
• its cDNA used to vaccinate mice to suppress the development of lung metastases (PMID:12553374)
• MUC1/beta-catenin interaction occurs in both primary and metastatic tumors, but is dramatically increased in metastatic lesions. Addition of MUC1-cytoplasmic domain peptides to breast cancer cell lines increases their invasive capability. (PMID:12618757)
• MUC5AC, MUC1 and heparan sulfate proteoglycans cooperated in the formation of a biological inhibitory complex towards the function of E-cadherin in colonic neoplasms (PMID:12640674)
• MUC1 may contribute to the anti-adhesive character of the tubal surface, inhibiting ectopic implantation. (PMID:12646057)
• FUT1 catalyses the addition of alpha-1,2-fucose to MUC1 and MUC5AC apomucins (PMID:12652076)
• results confirm that there is downregulation of MUC1 mucin expression in cancer culture cells treated with selective estrogen receptor modulators (PMID:12724017)
• MUC1 expression was inhibited by NGF treatment in breast cancer tumor cell lines, suggesting that its expression can be regulated by signals resulting from the homodimerization of Erb-B2. (PMID:12798775)
• It was also observed that the mucins from colon carcinoma patients had MUC1-type mucins that carried both sialyl-Lewis a and x epitopes and CD43-type sialyl-Lewis a mucins with only low levels of sialyl-Lewis x epitopes. (PMID:12820726)
• Regulates intracellular oxidant levels and the apoptotic response to oxidative stress in cancer cells (PMID:12826677)
• Two genes predisposing to dominant MCKD, MCKD1 and MCKD2, have been localized to chromosome 1q21 and 16p12. Review. (PMID:12832729)
• A correlation has been found between EMA expression and prognosis in renal cell carcinoma patients who underwent nephrectomy. (PMID:12893366)
• conformational features that contribute to acceptor substrate specificity (PMID:12925576)
• findings demonstrate that MUC1 functions in cross talk between ErbB2 and Wnt pathways by acting as a shuttle for heregulin/neuregulin-1-induced nucleolar targeting of gamma-catenin (PMID:12939402)
• These findings provide the first evidence that MUC1 induces cellular transformation. (PMID:12955090)
• MUC1 and Met can be detected in the axillary fluids of patients with breast cancer; the expression of both tumor markers in the axillary drainage is strongly associated with unfavorable tumor features and can be used as a prognostic factor (PMID:14509156)
• MUC1 splice variant expression is different in pure DCIS compared to DCIS with adjacent invasive cancer (PMID:14534730)
• increased synthesis may be a key element in the host response to infection with oral pathogens (PMID:14578499)
• All salivary gland tumors expressed MUC1. (PMID:14616551)
• In breast cancer patients, MUC1 was detected both in tissue specimens as well as free in serum samples; furthermore, MUC1 can also circulate complexed with IgG and IgM antibodies; accurate measurements should include free and complexed forms. (PMID:14620915)
• First simultaneous kinetic description of O-glycosylation events by human recombinant UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase I at all putative O-glycosylation sites within human mucin MUC1 containing 5 tandem repeats. (PMID:14636048)
• MUC1 cytoplasmic domain coactivates Wnt target gene transcription and confers transformation. (PMID:14688481)
• MUC1 synthesized in the airway cell line showed low levels of sialylation but carried a range of oligo-N-acetyllactosamine structures not seen in the colon carcinoma cell line. (PMID:14707484)
• MUC1 integrates T cell receptor signaling with the beta-catenin pathway (PMID:14766232)
• MUC1 attenuates the apoptotic response to DNA damage and that this oncoprotein confers resistance to genotoxic anticancer agents (PMID:14998492)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
mus_musculus	Muc1	ENSMUSG00000042784
rattus_norvegicus	Muc1	ENSRNOG00000020539
caenorhabditis_elegans		WBGENE00012901

Protein

Protein identifiers

Mucin-1 — P15941 (reviewed: P15941)

Alternative names: Breast carcinoma-associated antigen DF3, Cancer antigen 15-3, Carcinoma-associated mucin, Episialin, H23AG, Krebs von den Lungen-6, PEMT, Peanut-reactive urinary mucin, Polymorphic epithelial mucin, Tumor-associated epithelial membrane antigen, Tumor-associated mucin

All UniProt accessions (16): A0A087WTR1, A0A087WVJ0, A0A087WWM2, A0A087WZI8, A0A087WZZ6, A0A087X061, A0A087X0L2, A0A0A0MRB3, A0A0A0MSH4, A0A0C4DGW3, A0A384NPK6, A6ZIE4, B1AVQ7, B6ECB5, P15941, Q7Z536

UniProt curated annotations — full annotation on UniProt →

Function. The alpha subunit has cell adhesive properties. Can act both as an adhesion and an anti-adhesion protein. May provide a protective layer on epithelial cells against bacterial and enzyme attack. The beta subunit contains a C-terminal domain which is involved in cell signaling, through phosphorylations and protein-protein interactions. Modulates signaling in ERK, SRC and NF-kappa-B pathways. In activated T-cells, influences directly or indirectly the Ras/MAPK pathway. Promotes tumor progression. Regulates TP53-mediated transcription and determines cell fate in the genotoxic stress response. Binds, together with KLF4, the PE21 promoter element of TP53 and represses TP53 activity.

Subunit / interactions. The alpha subunit forms a tight, non-covalent heterodimeric complex with the proteolytically-released beta-subunit. Interaction, via the tandem repeat region, with domain 1 of ICAM1 is implicated in cell migration and metastases. Isoform 1 binds directly the SH2 domain of GRB2, and forms a MUC1/GRB2/SOS1 complex involved in RAS signaling. The cytoplasmic tail (MUC1CT) interacts with several proteins such as SRC, CTNNB1 and ERBs. Interaction with the SH2 domain of CSK decreases interaction with GSK3B. Interacts with CTNNB1/beta-catenin and JUP/gamma-catenin and promotes cell adhesion. Interaction with JUP/gamma-catenin is induced by heregulin. Binds PRKCD, ERBB2, ERBB3 and ERBB4. Heregulin (HRG) stimulates the interaction with ERBB2 and, to a much lesser extent, the interaction with ERBB3 and ERBB4. Interacts with P53 in response to DNA damage. Interacts with KLF4. Interacts with estrogen receptor alpha/ESR1, through its DNA-binding domain, and stimulates its transcription activity. Binds ADAM17. Isoform ZD forms disulfide-linked oligomers.

Subcellular location. Apical cell membrane Secreted Secreted Secreted Cell membrane. Cytoplasm. Nucleus.

Tissue specificity. Expressed on the apical surface of epithelial cells, especially of airway passages, breast and uterus. Also expressed in activated and unactivated T-cells. Overexpressed in epithelial tumors, such as breast or ovarian cancer and also in non-epithelial tumor cells. Isoform Y is expressed in tumor cells only.

Post-translational modifications. Highly glycosylated (N- and O-linked carbohydrates and sialic acid). O-glycosylated to a varying degree on serine and threonine residues within each tandem repeat, ranging from mono- to penta-glycosylation. The average density ranges from about 50% in human milk to over 90% in T47D breast cancer cells. Further sialylation occurs during recycling. Membrane-shed glycoproteins from kidney and breast cancer cells have preferentially sialyated core 1 structures, while secreted forms from the same tissues display mainly core 2 structures. The O-glycosylated content is overlapping in both these tissues with terminal fucose and galactose, 2- and 3-linked galactose, 3- and 3,6-linked GalNAc-ol and 4-linked GlcNAc predominating. Differentially O-glycosylated in breast carcinomas with 3,4-linked GlcNAc. N-glycosylation consists of high-mannose, acidic complex-type and hybrid glycans in the secreted form MUC1/SEC, and neutral complex-type in the transmembrane form, MUC1/TM. Proteolytic cleavage in the SEA domain occurs in the endoplasmic reticulum by an autoproteolytic mechanism and requires the full-length SEA domain as well as requiring a Ser, Thr or Cys residue at the P + 1 site. Cleavage at this site also occurs on isoform MUC1/X but not on isoform MUC1/Y. Ectodomain shedding is mediated by ADAM17. Dual palmitoylation on cysteine residues in the CQC motif is required for recycling from endosomes back to the plasma membrane. Phosphorylated on tyrosines and serine residues in the C-terminal. Phosphorylation on tyrosines in the C-terminal increases the nuclear location of MUC1 and beta-catenin. Phosphorylation by PKC delta induces binding of MUC1 to beta-catenin/CTNNB1 and thus decreases the formation of the beta-catenin/E-cadherin complex. Src-mediated phosphorylation inhibits interaction with GSK3B. Src- and EGFR-mediated phosphorylation on Tyr-1229 increases binding to beta-catenin/CTNNB1. GSK3B-mediated phosphorylation on Ser-1227 decreases this interaction but restores the formation of the beta-cadherin/E-cadherin complex. On T-cell receptor activation, phosphorylated by LCK. PDGFR-mediated phosphorylation increases nuclear colocalization of MUC1CT and CTNNB1. The N-terminal sequence has been shown to begin at position 24 or 28.

Disease relevance. MUC1/CA 15-3 is used as a serological clinical marker of breast cancer to monitor response to breast cancer treatment and disease recurrence. Decreased levels over time may be indicative of a positive response to treatment. Conversely, increased levels may indicate disease progression. At an early stage disease, only 21% of patients exhibit high MUC1/CA 15-3 levels, that is why CA 15-3 is not a useful screening test. Most antibodies target the highly immunodominant core peptide domain of 20 amino acid (APDTRPAPGSTAPPAHGVTS) tandem repeats. Some antibodies recognize glycosylated epitopes. Tubulointerstitial kidney disease, autosomal dominant 2 (ADTKD2) [MIM:174000] A form of autosomal dominant tubulointerstitial kidney disease, a genetically heterogeneous disorder characterized by slowly progressive loss of kidney function, bland urinary sediment, hyperuricemia, absent or mildly increased albuminuria, lack of severe hypertension during the early stages, and normal or small kidneys on ultrasound. Renal histology shows variable abnormalities including interstitial fibrosis with tubular atrophy, microcystic dilatation of the tubules, thickening of tubular basement membranes, medullary cysts, and secondary glomerulosclerotic or glomerulocystic changes with abnormal glomerular tufting. There is significant variability, as well as incomplete penetrance. The disease is caused by variants affecting the gene represented in this entry.

Polymorphism. The number of repeats is highly polymorphic. It varies from 21 to 125 in the northern European population. The most frequent alleles contains 41 and 85 repeats. The tandemly repeated icosapeptide underlies polymorphism at three positions: PAPGSTAP[PAQT]AHGVTSAP[DT/ES]R, DT -> ES and the single replacements P -> A, P -> Q and P-> T. The most frequent replacement DT -> ES occurs in up to 50% of the repeats.

Miscellaneous. The name KL-6 was originally that of a murine monoclonal antibody reacting with pulmonary adenocarcinoma cell lines and pulmonary epithelial cells. This antibody recognizes a sialylated carbohydrate chain on MUC1. Lacks the mucin repeats. Lacks the mucin repeats. Exists as a disulfide-linked oligomer.

Isoforms (17)

UniProt ID	Names	Canonical?
P15941-1	1, A	yes
P15941-2	2, B
P15941-3	3, C
P15941-4	4, D
P15941-5	5, SEC
P15941-6	6, X
P15941-7	Y, MUC1/Y
P15941-8	8, Z
P15941-9	9, S
P15941-10	F
P15941-11	Y-LSP
P15941-12	S2
P15941-13	M6
P15941-14	ZD, J19
P15941-15	T10
P15941-16	E2
P15941-17	J13

RefSeq proteins (21): NP_001018016, NP_001018017, NP_001037855, NP_001037856, NP_001037857, NP_001037858, NP_001191214, NP_001191215, NP_001191216, NP_001191217, NP_001191218, NP_001191219, NP_001191220, NP_001191221, NP_001191222, NP_001191223, NP_001191224, NP_001191225, NP_001191226, NP_001358649, NP_002447 (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000082	SEA_dom	Domain
IPR036364	SEA_dom_sf	Homologous_superfamily

Pfam: PF01390

UniProt features (149 total): repeat 48, mutagenesis site 21, splice variant 19, glycosylation site 9, sequence conflict 8, modified residue 7, region of interest 6, compositionally biased region 6, strand 4, chain 3, helix 3, short sequence motif 3, sequence variant 2, turn 2, topological domain 2, lipid moiety-binding region 2, signal peptide 1, transmembrane region 1, domain 1, site 1

Structure

Experimental structures (PDB)

23 structures.

PDB	Method	Resolution (Å)
6BSC	X-RAY DIFFRACTION	1.3
7V64	X-RAY DIFFRACTION	1.56
6BSB	X-RAY DIFFRACTION	1.6
6FZQ	X-RAY DIFFRACTION	1.7
8S6K	X-RAY DIFFRACTION	1.75
6KX1	X-RAY DIFFRACTION	1.77
6FZR	X-RAY DIFFRACTION	1.8
8AXH	X-RAY DIFFRACTION	1.85
8S6T	X-RAY DIFFRACTION	1.85
1SM3	X-RAY DIFFRACTION	1.95
8S6V	X-RAY DIFFRACTION	1.95
5T6P	X-RAY DIFFRACTION	1.97
6TGG	X-RAY DIFFRACTION	2
7V4W	X-RAY DIFFRACTION	2.1
5T78	X-RAY DIFFRACTION	2.2
7V7K	X-RAY DIFFRACTION	2.2
7Q4I	X-RAY DIFFRACTION	2.4
8P6I	X-RAY DIFFRACTION	2.5
2FO4	X-RAY DIFFRACTION	2.7
7VAZ	X-RAY DIFFRACTION	2.73
7V8Q	X-RAY DIFFRACTION	3.2
7VAC	X-RAY DIFFRACTION	3.5
2ACM	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P15941-F1	47.92	0.02

Antibody-complex structures (SAbDab): 18 — 1SM3, 5T6P, 5T78, 6FZQ, 6FZR, 6KX1, 6TGG, 7V4W, 7V64, 7V7K, 7V8Q, 7VAC, 7VAZ, 8AXH, 8P6I, 8S6K, 8S6T, 8S6V

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Catalytic / active sites (1): 1097–1098 (cleavage; by autolysis)

Post-translational modifications (9): 1203, 1212, 1218, 1224, 1227, 1229, 1243, 1184, 1186

Glycosylation sites (9): 131, 139, 140, 144, 957, 975, 1029, 1055, 1133

Mutagenesis-validated functional residues (21):

Position	Phenotype
1098	completely abrogates cleavage.
1098	almost complete cleavage.
1116	greatly reduced formation of isoform 5/isoform y complex.
1116	no effect on formation of isoform 5/isoform y complex.
1184	s-palmitoylation reduced by 50%. complete loss of palmitoylation, no effect on endocytosis, recycling inhibited and ap1s
1186	s-palmitoylation reduced by 50%. complete loss of palmitoylation, no effect on endocytosis, recycling inhibited, and ap1
1187–1189	no nuclear targeting of hrg-stimulated muc1 c-terminal nor jup/gamma-catenin. no effect on interaction with jup/gamma-ca
1187–1189	no effect on palmitoylation.
1191	no effect on egfr-mediated phosphorylation.
1191	no effect on endocytosis.
1203	no effect on nuclear colocalization of muc1ct and ctnnb1. no effect on in vitro pdfgr-induced cell invasiveness.
1203	no effect on egfr-mediated phosphorylation. no nuclear localization of muc1ct. reduced in vitro pdgfr-induced cell invas
1203	reduced endocytosis by 30%. greatly reduced binding to ap1s2 and grb2. binding ap1s1 reduced by 25%. reduced endocytosis
1209	some reduction in egfr-mediated phosphorylation.
1218	no effect on egfr-mediated phosphorylation. no nuclear colocalization of muc1ct and ctnnb1.
1223	no change in prkcd- nor gsk3b-mediated phosphorylation.
1224	loss of prkcd-mediated phosphorylation. decreased prkcd binding. no increased binding to ctnnb1 in the presence of autop
1227	no change in prkcd-mediated phosphorylation. loss of gsk3b-mediated phosphorylation. ctnnb1.
1229	greatly reduced egfr- and src-mediated phosphorylation. no nuclear localization of muc1ct. reduced in vitro pdgfr-mediat
1229	no effect on endocytosis.
1243	reduces binding to ap1s2 by 33%. greatly reduced binding to grb2. reduced endocytosis by 50%. reduced endocytosis by 77%

Function

Pathways and Gene Ontology

Reactome pathways

21 pathways

ID	Pathway
R-HSA-5083625	Defective GALNT3 causes HFTC
R-HSA-5083632	Defective C1GALT1C1 causes TNPS
R-HSA-5083636	Defective GALNT12 causes CRCS1
R-HSA-5621480	Dectin-2 family
R-HSA-6785807	Interleukin-4 and Interleukin-13 signaling
R-HSA-913709	O-linked glycosylation of mucins
R-HSA-977068	Termination of O-glycan biosynthesis
R-HSA-9927418	Developmental Lineage of Mammary Gland Luminal Epithelial Cells
R-HSA-9927426	Developmental Lineage of Mammary Gland Alveolar Cells
R-HSA-1280215	Cytokine Signaling in Immune system
R-HSA-1643685	Disease
R-HSA-168249	Innate Immune System
R-HSA-168256	Immune System
R-HSA-3781865	Diseases of glycosylation
R-HSA-3906995	Diseases associated with O-glycosylation of proteins
R-HSA-392499	Metabolism of proteins
R-HSA-449147	Signaling by Interleukins
R-HSA-5173105	O-linked glycosylation
R-HSA-5621481	C-type lectin receptors (CLRs)
R-HSA-5668914	Diseases of metabolism
R-HSA-597592	Post-translational protein modification

MSigDB gene sets: 349 (showing top): RNGTGGGC_UNKNOWN, GOBP_INTRINSIC_APOPTOTIC_SIGNALING_PATHWAY_IN_RESPONSE_TO_DNA_DAMAGE_BY_P53_CLASS_MEDIATOR, KOBAYASHI_EGFR_SIGNALING_24HR_UP, REACTOME_INNATE_IMMUNE_SYSTEM, GOBP_NEGATIVE_REGULATION_OF_INTRINSIC_APOPTOTIC_SIGNALING_PATHWAY_BY_P53_CLASS_MEDIATOR, REACTOME_CYTOKINE_SIGNALING_IN_IMMUNE_SYSTEM, ENK_UV_RESPONSE_KERATINOCYTE_UP, MODULE_45, MODULE_64, GOBP_CELL_CYCLE_PHASE_TRANSITION, GOBP_NEGATIVE_REGULATION_OF_INTRINSIC_APOPTOTIC_SIGNALING_PATHWAY_IN_RESPONSE_TO_DNA_DAMAGE, GOBP_NEGATIVE_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION, BROWNE_HCMV_INFECTION_48HR_DN, RICKMAN_METASTASIS_DN, GOBP_NEGATIVE_REGULATION_OF_INTRINSIC_APOPTOTIC_SIGNALING_PATHWAY

GO Biological Process (6): obsolete negative regulation of transcription by competitive promoter binding (GO:0010944), DNA damage response, signal transduction by p53 class mediator (GO:0030330), mitotic G1 DNA damage checkpoint signaling (GO:0031571), negative regulation of cell adhesion mediated by integrin (GO:0033629), positive regulation of transcription by RNA polymerase II (GO:0045944), negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)

GO Molecular Function (4): RNA polymerase II cis-regulatory region sequence-specific DNA binding (GO:0000978), p53 binding (GO:0002039), transcription coregulator activity (GO:0003712), protein binding (GO:0005515)

GO Cellular Component (11): chromatin (GO:0000785), obsolete extracellular space (GO:0005615), nucleus (GO:0005634), Golgi lumen (GO:0005796), plasma membrane (GO:0005886), apical plasma membrane (GO:0016324), vesicle (GO:0031982), extracellular exosome (GO:0070062), extracellular region (GO:0005576), cytoplasm (GO:0005737), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-13 pathways:

Category	Pathways
Diseases associated with O-glycosylation of proteins	3
Developmental Lineages of the Mammary Gland	2
Immune System	2
C-type lectin receptors (CLRs)	1
Signaling by Interleukins	1
O-linked glycosylation	1
O-linked glycosylation of mucins	1
Diseases of metabolism	1
Diseases of glycosylation	1
Cytokine Signaling in Immune system	1
Post-translational protein modification	1
Innate Immune System	1
Disease	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	4
signal transduction in response to DNA damage	1
signal transduction by p53 class mediator	1
mitotic G1 phase	1
mitotic DNA damage checkpoint signaling	1
mitotic G1/S transition checkpoint signaling	1
negative regulation of cell adhesion	1
cell adhesion mediated by integrin	1
regulation of cell adhesion mediated by integrin	1
regulation of transcription by RNA polymerase II	1
transcription by RNA polymerase II	1
positive regulation of DNA-templated transcription	1
intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator	1
regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator	1
negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage	1
negative regulation of intrinsic apoptotic signaling pathway by p53 class mediator	1
RNA polymerase II transcription regulatory region sequence-specific DNA binding	1
cis-regulatory region sequence-specific DNA binding	1
protein binding	1
transcription regulator activity	1
binding	1
chromosome	1
intracellular membrane-bounded organelle	1
Golgi apparatus	1
intracellular organelle lumen	1
membrane	1
cell periphery	1
apical part of cell	1
plasma membrane region	1
membrane-bounded organelle	1
extracellular vesicle	1
intracellular anatomical structure	1

Protein interactions and networks

STRING

0 interactions, top by confidence (×1000):

IntAct

29 interactions, top by confidence:

A	B	Type	Score
EGFR	MUC1	psi-mi:“MI:0915”(physical association)	0.820
MUC1	EGFR	psi-mi:“MI:0915”(physical association)	0.820
MUC1	SRC	psi-mi:“MI:0915”(physical association)	0.750
SRC	MUC1	psi-mi:“MI:0914”(association)	0.750
MUC1	MUC1	psi-mi:“MI:0915”(physical association)	0.520
U2AF2	MUC1	psi-mi:“MI:2364”(proximity)	0.470
U2AF2	MUC1	psi-mi:“MI:0915”(physical association)	0.470
MUC1	ABL1	psi-mi:“MI:0915”(physical association)	0.460
ABL1	MUC1	psi-mi:“MI:0915”(physical association)	0.460
MUC1	ABL1	psi-mi:“MI:0403”(colocalization)	0.460
MUC1	HIF1A	psi-mi:“MI:0915”(physical association)	0.400
MUC1	EP300	psi-mi:“MI:0915”(physical association)	0.400
MUC1	JUN	psi-mi:“MI:0915”(physical association)	0.400
MUC1	MUC1	psi-mi:“MI:0915”(physical association)	0.400
MET	MUC1	psi-mi:“MI:0915”(physical association)	0.400
MUC1	MET	psi-mi:“MI:0915”(physical association)	0.400
MUC1	ATP6V0A1	psi-mi:“MI:0914”(association)	0.350
	MUC1	psi-mi:“MI:0915”(physical association)	0.000
MUC1	GRB2	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (224): MUC1 (Two-hybrid), ATP6V0A2 (Affinity Capture-MS), ATP6V0A1 (Affinity Capture-MS), HBD (Affinity Capture-MS), MUC1 (PCA), MUC1 (Affinity Capture-Luminescence), MUC1 (Reconstituted Complex), ATP6V0A2 (Affinity Capture-MS), TMEM199 (Affinity Capture-MS), ATP6V0A1 (Affinity Capture-MS), ATP11C (Affinity Capture-MS), TMEM59L (Affinity Capture-MS), TMEM63B (Affinity Capture-MS), MYADM (Affinity Capture-MS), TMEM67 (Affinity Capture-MS)

ESM2 similar proteins: A0A023PXQ4, A0A0U1RQI7, A6NJU9, A6NNC1, A8MRT5, A8MUU9, C9JG80, E2RYF6, E5RHQ5, F8W0I5, O13534, O59779, P08399, P0C732, P0C785, P0DTH6, P0DW28, P13208, P15941, P21787, P24856, P39564, P51861, P87269, Q00130, Q01456, Q12444, Q13117, Q1HVI8, Q27905, Q2EEQ3, Q4ZJY7, Q4ZJZ0, Q5SDL7, Q63661, Q69577, Q6B0Y1, Q6RY98, Q6ZQT0, Q6ZRX8

Diamond homologs: P15941, Q02496, Q29435, Q60528, Q8WML4

SIGNOR signaling

10 interactions.

A	Effect	B	Mechanism
EGFR	“up-regulates activity”	MUC1	phosphorylation
PRKCD	up-regulates	MUC1	phosphorylation
ZAP70	“up-regulates activity”	MUC1	phosphorylation
LCK	“up-regulates activity”	MUC1	phosphorylation
ABL1	“up-regulates quantity by stabilization”	MUC1	phosphorylation
SRC	up-regulates	MUC1	phosphorylation
ADAM17	down-regulates	MUC1	cleavage
GSK3B	“down-regulates activity”	MUC1	phosphorylation
MUC1	“up-regulates activity”	KLF4	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 10 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
PIP3 activates AKT signaling	5	33.4×	6e-05

Disease & clinical

Clinical variants and AI predictions

ClinVar

159 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	3
Likely pathogenic	6
Uncertain significance	103
Likely benign	25
Benign	4

Top pathogenic / likely-pathogenic (9)

Variant ID	HGVS	Classification
55830	NC_000001.10:g.(155160963_155162030)insC	Pathogenic
591327	NM_002456.6(MUC1):c.159+236dup	Pathogenic
974433	NM_002456.6(MUC1):c.430dup (p.Thr144fs)	Pathogenic
2506459	NM_001204285.2(MUC1):c.293_296dup (p.Ser100fs)	Likely pathogenic
3065438	NM_001204285.2(MUC1):c.184del (p.Ser62fs)	Likely pathogenic
3065546	NM_001204285.2(MUC1):c.1354-1G>A	Likely pathogenic
3779971	NM_001204286.1(MUC1):c.1078C>T (p.Arg360Ter)	Likely pathogenic
3900022	NM_001204285.2(MUC1):c.435-27_467del	Likely pathogenic
4292582	NM_001371720.2(MUC1):c.3478C>T (p.Gln1160Ter)	Likely pathogenic

SpliceAI

1156 predictions. Top by Δscore:

Variant	Effect	Δscore
1:155187219:TCTCA:T	donor_loss	1.0000
1:155187220:CTCAC:C	donor_loss	1.0000
1:155187221:TCA:T	donor_loss	1.0000
1:155187222:CA:C	donor_loss	1.0000
1:155187223:A:AT	donor_loss	1.0000
1:155187224:CCTT:C	donor_gain	1.0000
1:155187266:AGCGC:A	donor_gain	1.0000
1:155187370:ACAGC:A	acceptor_gain	1.0000
1:155187371:CAGC:C	acceptor_gain	1.0000
1:155187371:CAGCC:C	acceptor_gain	1.0000
1:155187373:GC:G	acceptor_gain	1.0000
1:155187374:CC:C	acceptor_gain	1.0000
1:155187375:C:CC	acceptor_gain	1.0000
1:155187376:T:C	acceptor_loss	1.0000
1:155187716:CCTCA:C	donor_loss	1.0000
1:155187717:CTCAC:C	donor_loss	1.0000
1:155187718:TCACC:T	donor_loss	1.0000
1:155187719:CAC:C	donor_loss	1.0000
1:155187720:A:AC	donor_gain	1.0000
1:155187720:A:AT	donor_loss	1.0000
1:155187721:C:CC	donor_gain	1.0000
1:155187721:C:CT	donor_loss	1.0000
1:155187721:CCG:C	donor_gain	1.0000
1:155187854:CTGGC:C	acceptor_gain	1.0000
1:155187857:GC:G	acceptor_gain	1.0000
1:155187858:CC:C	acceptor_gain	1.0000
1:155187859:C:CC	acceptor_gain	1.0000
1:155187859:CTGGT:C	acceptor_loss	1.0000
1:155187860:T:A	acceptor_loss	1.0000
1:155187864:C:CT	acceptor_gain	1.0000

AlphaMissense

1759 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000119738 (1:155186911 A>C), RS1000583252 (1:155185872 G>A), RS1002345236 (1:155193090 CCT>C), RS1002489797 (1:155186303 T>C), RS1003530313 (1:155192700 T>G), RS1003898239 (1:155187825 G>A,C), RS1004177114 (1:155193255 G>C), RS1005182379 (1:155194767 G>A), RS1005297232 (1:155194460 A>G), RS1005357606 (1:155185829 G>A), RS1006913155 (1:155193664 G>T), RS1007023317 (1:155194818 G>A,C), RS1007326115 (1:155193511 C>A,T), RS1008824544 (1:155186187 C>G,T), RS1009460684 (1:155186588 C>G,T)

Disease associations

OMIM: gene MIM:158340 | disease phenotypes: MIM:174000

GenCC curated gene-disease

Disease	Classification	Inheritance
tubulointerstitial kidney disease, autosomal dominant, 2	Definitive	Autosomal dominant

ClinGen Gene-Disease Validity (1)

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

Disease	Classification	Inheritance
tubulointerstitial kidney disease, autosomal dominant, 2	Definitive	AD

Mondo (2): tubulointerstitial kidney disease, autosomal dominant, 2 (MONDO:0020726), kidney failure (MONDO:0001106)

Orphanet (2): Autosomal dominant tubulointerstitial kidney disease (Orphanet:34149), MUC1-related autosomal dominant tubulointerstitial kidney disease (Orphanet:88949)

HPO phenotypes

21 total (21 of 21 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000089	Renal hypoplasia
HP:0000092	Renal tubular atrophy
HP:0000096	Glomerular sclerosis
HP:0000108	Renal corticomedullary cysts
HP:0000127	Renal salt wasting
HP:0000822	Hypertension
HP:0001903	Anemia
HP:0001970	Tubulointerstitial nephritis
HP:0001997	Gout
HP:0002048	Renal cortical atrophy
HP:0002120	Cerebral cortical atrophy
HP:0002149	Hyperuricemia
HP:0002615	Hypotension
HP:0003259	Elevated circulating creatinine concentration
HP:0003581	Adult onset
HP:0003774	Stage 5 chronic kidney disease
HP:0004732	Impaired renal uric acid clearance
HP:0005576	Tubulointerstitial fibrosis
HP:0005583	Tubular basement membrane disintegration
HP:0012213	Decreased glomerular filtration rate

GWAS associations

34 associations (top):

Study	Trait	p-value
GCST000756_6	Magnesium levels	2.000000e-36
GCST000879_41	Crohn’s disease	2.000000e-13
GCST002860_4	Magnesium levels	1.000000e-07
GCST002860_9	Magnesium levels	4.000000e-07
GCST002933_1	Magnesium levels	9.000000e-12
GCST002990_1	Gastric adenocarcinoma (histologically verified)	2.000000e-08
GCST002992_1	Gastric cancer	2.000000e-09
GCST002992_2	Gastric cancer	8.000000e-10
GCST003010_1	Gastric cancer	7.000000e-08
GCST003218_1	Non-cardia gastric cancer	6.000000e-17
GCST003254_5	Urinary albumin-to-creatinine ratio in non-diabetics	9.000000e-06
GCST003255_4	Urinary albumin-to-creatinine ratio	3.000000e-06
GCST004131_70	Inflammatory bowel disease	6.000000e-08
GCST004132_44	Crohn’s disease	2.000000e-07
GCST005125_1	Serum magnesium levels	4.000000e-14
GCST005983_41	Serum uric acid levels	9.000000e-16
GCST007294_124	Body fat distribution (trunk fat ratio)	8.000000e-35
GCST007294_3	Body fat distribution (trunk fat ratio)	6.000000e-21
GCST007294_50	Body fat distribution (trunk fat ratio)	1.000000e-15
GCST007295_17	Body fat distribution (leg fat ratio)	3.000000e-13
GCST007295_37	Body fat distribution (leg fat ratio)	7.000000e-17
GCST007295_72	Body fat distribution (leg fat ratio)	1.000000e-28
GCST007725_19	Serum uric acid levels	7.000000e-20
GCST007876_142	Estimated glomerular filtration rate	5.000000e-10
GCST008646_1	Gastric cancer	2.000000e-12
GCST008970_4	Gout	4.000000e-06
GCST010696_19	Cortical thickness (min-P)	2.000000e-10
GCST010697_10	Cortical surface area (min-P)	3.000000e-10
GCST010698_59	Subcortical volume (min-P)	9.000000e-10
GCST010699_20	Brain morphology (min-P)	7.000000e-10

EFO canonical traits (6, from GWAS)

EFO ID	Trait name
EFO:0004845	magnesium measurement
EFO:0007778	urinary albumin to creatinine ratio
EFO:0004761	uric acid measurement
EFO:0004341	body fat distribution
EFO:0004346	neuroimaging measurement
EFO:0004840	cortical thickness

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D051437	Renal Insufficiency	C12.050.351.968.419.780; C12.200.777.419.780; C12.950.419.780

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL3580494 (SINGLE PROTEIN)

PharmGKB: 1 entry (VIP=true, CPIC=false)

ChEMBL bioactivities

1 potent at pChembl≥5 of 2 total, top 1 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
7.52	Kd	30	nM	CHEMBL4443554

CTD chemical–gene interactions

116 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Particulate Matter	decreases expression, decreases reaction, increases abundance, increases expression, affects cotreatment	7
bisphenol A	increases abundance, decreases expression, decreases methylation, increases expression, affects cotreatment (+1 more)	5
Tobacco Smoke Pollution	increases expression, affects expression, decreases expression	5
Smoke	increases abundance, increases expression, decreases expression, decreases reaction, affects expression	4
Air Pollutants	decreases expression, increases abundance, increases expression, affects expression	3
Benzo(a)pyrene	decreases expression, decreases methylation, increases expression	3
Valproic Acid	affects cotreatment, increases expression, decreases expression, increases methylation	3
triphenyl phosphate	affects expression, increases expression	2
Resveratrol	decreases expression, affects cotreatment	2
Arsenic	affects methylation, affects expression	2
Dexamethasone	affects cotreatment, increases expression, decreases reaction	2
Estradiol	affects binding, increases expression, affects cotreatment, decreases expression	2
Phenylmercuric Acetate	affects cotreatment, decreases expression	2
Tretinoin	increases expression, affects cotreatment	2
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	increases expression, affects response to substance, decreases reaction, increases activity, increases phosphorylation	2
Cadmium Chloride	increases expression	2
bisphenol F	decreases expression	1
napabucasin	decreases expression	1
ginger extract	affects expression, increases abundance, affects cotreatment	1
lead acetate	decreases expression	1
mancozeb	decreases expression	1
3,4-dichloroaniline	increases expression	1
beta-lapachone	decreases expression	1
trimellitic anhydride	decreases expression	1
chloramine-T	decreases expression	1
indole-3-carbinol	decreases expression	1
sulforaphane	decreases expression	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
sodium arsenite	decreases expression	1
butyraldehyde	decreases expression	1

ChEMBL screening assays

13 unique, capped per target: 13 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL4420821	Binding	Inhibition of His-tagged MUC1-CD dimerization (unknown origin) assessed as decrease in oligomer formation incubated for 1 hr by SDS-polyacrylamide electrophoresis method based luminescence assay	Small molecule inhibitors of MUC1 and methods of identifying the same

Cellosaurus cell lines

28 cell lines: 19 cancer cell line, 4 transformed cell line, 4 spontaneously immortalized cell line, 1 undefined cell line type

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_0Q68	Panc1-MUC1	Cancer cell line	Male
CVCL_0Q69	Panc1-bC2GnT-M	Cancer cell line	Male
CVCL_4E32	BALB/3T3-APR-MUC1 cl.16	Undefined cell line type	Sex unspecified
CVCL_5I38	MC-38-MUC-1	Cancer cell line	Female
CVCL_8070	211-LCL-MUC1	Transformed cell line	Male
CVCL_8071	141-LCL-MUC1	Transformed cell line	Female
CVCL_8725	KLN205-MUC1	Cancer cell line	Male
CVCL_AV04	Chor-IN-1	Cancer cell line	Male
CVCL_B1XX	Abcam HeLa MUC1 KO	Cancer cell line	Female
CVCL_B8KZ	Abcam HCT 116 MUC1 KO	Cancer cell line	Male

Clinical trials (associated diseases)

300 trials via MONDO — disease-level, not drug-specific.

Trial	Phase	Status	Title
NCT00123331	PHASE4	COMPLETED	Rapamycin Use in Calcineurin Inhibitor (CNI)-Free Immunosuppression for Stabilization/Improvement of Renal Function After Heart Transplantation
NCT00123461	PHASE4	COMPLETED	Study of Safety and Efficacy of Doxercalciferol in Patients With Chronic Kidney Disease, Stage 3 or 4, and Secondary Hyperparathyroidism
NCT00144118	PHASE4	TERMINATED	The Effect of Isoflurane or Sevoflurane on Kidney Function
NCT00184769	PHASE4	COMPLETED	Growth Hormone Treatment in Infants Aged 1 to 2 Years With Chronic Renal Insufficiency (CRI) and Growth Retardation.
NCT00186329	PHASE4	COMPLETED	BNP for Cardio-Renal Decompensation Syndrome (BNP-CARDS)
NCT00194883	PHASE4	SUSPENDED	Effect of Cytokines on Growth of Children With Chronic Kidney Failure
NCT00195429	PHASE4	COMPLETED	A Study Comparing the Withdrawal of Steroids or Tacrolimus in Kidney Transplant Recipients
NCT00195468	PHASE4	COMPLETED	Study Comparing Cyclosporine Dose Reduction vs. Cyclosporine Elimination in Kidney Transplant Recipients Taking Sirolimus
NCT00195481	PHASE4	COMPLETED	Study Evaluating Sirolimus in Kidney Transplant Recipients in India
NCT00209417	PHASE4	TERMINATED	Renal Effects of Two Iodinated Contrast Media in Patients at Risk Undergoing Computed Tomography
NCT00246129	PHASE4	COMPLETED	CamTac Trial:Campath-Tacrolimus vs IL2R MoAb/Tacrolimus/MMF in Renal Transplantation
NCT00247325	PHASE4	COMPLETED	RECOVER:Comparison of Renal Toxicity Between Visipaque(Iodixanol)and Hexabrix(Ioxaglate)in Renal Insufficiency Undergoing Coronary Angiography
NCT00254709	PHASE4	COMPLETED	Study Evaluating Two Different Sirolimus-based Immunosuppressive Regimens in Elderly Kidney Transplant Recipients
NCT00259441	PHASE4	COMPLETED	PROMISS: Simvastatin Prevents the Contrast Induced Acute Renal Failure in Patients With Renal Insufficiency Undergoing Coronary Angiography
NCT00261820	PHASE4	COMPLETED	Study Comparing Two Immunosuppressive Regimens in De Novo Renal Allograft Recipients
NCT00266123	PHASE4	COMPLETED	Study Comparing Two Sirolimus Regimens vs. Tacrolimus and Mycophenolate Mofetil Regimen in Kidney Transplant Recipients
NCT00282217	PHASE4	COMPLETED	Study Evaluating Sirolimus in the Treatment of Kidney Transplant
NCT00294866	PHASE4	COMPLETED	Effect of Paricalcitol on Markers of Inflammation in Hemodialysis Patients
NCT00295555	PHASE4	COMPLETED	Doxazosin Effects on ABPM in Hypertensive Patients With Diabetic Nephropathy
NCT00356954	PHASE4	COMPLETED	NASPI: N-Acetylcysteine vs. Ascorbic Acid for Prevention of Contrast Induced Nephropathy in Renal Insufficiency Undergoing Coronary Catheterization
NCT00368901	PHASE4	COMPLETED	STAAR-2 Clinical Study
NCT00369382	PHASE4	COMPLETED	Study Of The Safety And Efficacy Of Conversion From A CNI To Sirolimus In Renally-Impaired Heart Transplant Recipients
NCT00369733	PHASE4	COMPLETED	STAAR-3 Clinical Study
NCT00369772	PHASE4	COMPLETED	STAAR-1 Clinical Study
NCT00396435	PHASE4	COMPLETED	Correction of Anaemia and Progression of Renal Failure on Transplanted Patients
NCT00412802	PHASE4	COMPLETED	Adaptation Dose of Enoxaparin in Moderate Renal Failure Patients With Acute Coronary Syndrome
NCT00483275	PHASE4	WITHDRAWN	Fall Prevention by Alfacalcidol and Training
NCT00492518	PHASE4	COMPLETED	Acetylcysteine, Theophylline, and a Combination of Both in the Prophylaxis of Contrast-Induced Nephropathy
NCT00495365	PHASE4	TERMINATED	A Dose Conversion Study of Epoetin Alfa in Subjects With the Anemia of Chronic Kidney Disease.
NCT00527059	PHASE4	UNKNOWN	Renal Effects of Levosimendan in Patients Admitted With Acute Decompensated Heart Failure
NCT00566033	PHASE4	COMPLETED	Multiple Intervention and AUdit in Renal Diseases to Optimize Care
NCT00584350	PHASE4	UNKNOWN	Prevention of Contrast Nephropathy During Diagnostic Coronary Angiogram or PCI With Hydratation Based on LEVDP
NCT00613964	PHASE4	TERMINATED	The Effects of Carperitide on Short and Long-term Prognosis in Patients With Both Cardiac and Renal Failure
NCT00650845	PHASE4	COMPLETED	Renal Safety Evaluation After Dotarem®-Enhanced MRI
NCT00656266	PHASE4	TERMINATED	Trial of Calcineurin Inhibitor-Sparing Immunosuppression Regimen in Pediatric Liver Transplantation
NCT00716573	PHASE4	COMPLETED	Efficacy Study of Everolimus on Renal Function in Heart Transplant Recipients With Established Chronic Renal Failure
NCT00748072	PHASE4	COMPLETED	1-deamino 8-d-arginine Vasopressin (DDAVP) in Percutaneous Ultrasound-guided Renal Biopsy
NCT00748904	PHASE4	WITHDRAWN	Rifaximin Versus Lactulose in Renal Failure
NCT00823628	PHASE4	COMPLETED	Contrast-medium Induced Nephrotoxicity in Patients Undergoing Coronary Angiography - Iodixanol Versus Iopromide
NCT00839358	PHASE4	COMPLETED	Effect of Midodrine and Albumine in the Prevention of Complications in Cirrhotic Patients Awaiting Liver Transplantation