SLC35C1

Summary

SLC35C1 (solute carrier family 35 member C1, HGNC:20197) is a protein-coding gene on chromosome 11p11.2, encoding GDP-fucose transporter 1 (Q96A29). Antiporter specific for GDP-l-fucose and depending on the concomitant reverse transport of GMP.

This gene encodes a GDP-fucose transporter that is found in the Golgi apparatus. Mutations in this gene result in congenital disorder of glycosylation type IIc. Multiple transcript variants encoding different isoforms have been found for this gene.

Source: NCBI Gene 55343 — RefSeq curated summary.

At a glance

• Gene–disease (curated): leukocyte adhesion deficiency type II (Definitive, GenCC)
• GWAS associations: 3
• Clinical variants (ClinVar): 341 total — 7 pathogenic, 2 likely-pathogenic
• Phenotypes (HPO): 88
• Dosage sensitivity (ClinGen): haploinsufficiency autosomal recessive, triplosensitivity no evidence
• MANE Select transcript: NM_018389

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:20197
Approved symbol	SLC35C1
Name	solute carrier family 35 member C1
Location	11p11.2
Locus type	gene with protein product
Status	Approved
Aliases	FUCT1, FLJ11320
Ensembl gene	ENSG00000181830
Ensembl biotype	protein_coding
OMIM	605881
Entrez	55343

Gene structure

Transcript identifiers

Ensembl transcripts: 5 — 5 protein_coding

ENST00000314134, ENST00000442528, ENST00000526817, ENST00000530471, ENST00000953729

RefSeq mRNA: 5 — MANE Select: NM_018389 NM_001145265, NM_001145266, NM_001425155, NM_001425156, NM_018389

CCDS: CCDS44575, CCDS7914

Canonical transcript exons

ENST00000314134 — 2 exons

Exon	Start	End
ENSE00001252334	45810776	45813016
ENSE00001252340	45805149	45806336

Expression profiles

Bgee: expression breadth ubiquitous, 245 present calls, max score 93.51.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 24.0272 / max 288.2428, expressed in 1807 samples.

FANTOM5 promoters (7 alternative TSS)

Promoter ID	TPM avg	Samples expressed
114034	18.4353	1799
114031	3.8814	1398
114036	0.4789	268
114030	0.4214	221
114035	0.4092	210
114032	0.2741	117
114033	0.1269	57

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
lower esophagus mucosa	UBERON:0035834	93.51	gold quality
right lobe of liver	UBERON:0001114	91.09	gold quality
esophagus mucosa	UBERON:0002469	91.06	gold quality
mucosa of transverse colon	UBERON:0004991	90.24	gold quality
minor salivary gland	UBERON:0001830	88.44	gold quality
stromal cell of endometrium	CL:0002255	88.17	gold quality
pharyngeal mucosa	UBERON:0000355	88.11	gold quality
ileal mucosa	UBERON:0000331	87.85	gold quality
mouth mucosa	UBERON:0003729	87.59	gold quality
saliva-secreting gland	UBERON:0001044	86.78	gold quality
liver	UBERON:0002107	86.42	gold quality
subcutaneous adipose tissue	UBERON:0002190	86.08	gold quality
transverse colon	UBERON:0001157	85.85	gold quality
esophagus	UBERON:0001043	85.77	gold quality
omental fat pad	UBERON:0010414	85.64	gold quality
peritoneum	UBERON:0002358	85.62	gold quality
adipose tissue of abdominal region	UBERON:0007808	85.22	gold quality
buccal mucosa cell	CL:0002336	84.93	gold quality
granulocyte	CL:0000094	84.90	gold quality
small intestine Peyer’s patch	UBERON:0003454	84.86	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	84.85	gold quality
nasal cavity epithelium	UBERON:0005384	84.82	gold quality
pancreatic ductal cell	CL:0002079	84.70	silver quality
duodenum	UBERON:0002114	84.48	gold quality
pylorus	UBERON:0001166	84.17	gold quality
apex of heart	UBERON:0002098	84.14	gold quality
small intestine	UBERON:0002108	84.14	gold quality
adipose tissue	UBERON:0001013	84.08	gold quality
decidua	UBERON:0002450	83.52	gold quality
connective tissue	UBERON:0002384	83.50	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	7.06

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

68 targeting SLC35C1, 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-30A-5P	100.00	76.31	3233
HSA-MIR-30B-5P	100.00	76.29	3248
HSA-MIR-30C-5P	100.00	76.29	3248
HSA-MIR-30D-5P	100.00	76.32	3233
HSA-MIR-30E-5P	100.00	76.32	3242
HSA-MIR-4476	100.00	68.18	2030
HSA-MIR-6876-5P	100.00	67.68	2126
HSA-MIR-6870-5P	99.99	68.55	2115
HSA-MIR-4723-5P	99.97	68.70	2034
HSA-MIR-5698	99.97	68.49	2029
HSA-MIR-7111-5P	99.97	68.48	2062
HSA-MIR-6825-5P	99.96	69.81	3431
HSA-MIR-4645-3P	99.76	69.33	993
HSA-MIR-4319	99.76	69.83	2586
HSA-MIR-4320	99.75	65.80	793
HSA-MIR-3059-5P	99.70	69.93	2491
HSA-MIR-3175	99.65	66.30	2031
HSA-MIR-1827	99.63	68.57	3265
HSA-MIR-6757-3P	99.63	66.88	1089
HSA-MIR-4516	99.61	67.78	3390
HSA-MIR-3612	99.45	66.02	1333
HSA-MIR-650	99.45	65.77	1309
HSA-MIR-4762-3P	99.43	69.72	2363
HSA-MIR-365A-3P	99.43	70.02	836
HSA-MIR-365B-3P	99.43	70.02	836
HSA-MIR-125A-5P	99.36	70.59	1640
HSA-MIR-125B-5P	99.36	70.36	1662
HSA-MIR-4652-3P	99.33	70.02	2742
HSA-MIR-3678-3P	99.31	67.10	1432
HSA-MIR-6780B-3P	99.13	67.18	622

Functional genomics

ClinGen dosage: haploinsufficiency 30 (autosomal recessive), triplosensitivity 0 (no evidence). ClinGen Gene Dosage Map

Literature-anchored findings (GeneRIF, showing 11)

• In the GDP-fucose transporter a new single nucleotide deletion produced an open-reading frame shift & polypeptide truncation. Overexpression of the mutant protein in fibroblasts did not rescue fucosylation. The deletion ablated transporter activity. (PMID:12406889)
• Leukocyte adhesion deficiency II patients display dual defect in functoin ang Golgi expression of FUCT1. (PMID:16455955)
• the upregulation of GDP-Fuc Tr plays a pivotal role in increased fucosylation in hepatocellular carcinoma (PMID:17884843)
• In the rare LAD-II disease, the fucosylation of selectin ligands is disturbed, caused by mutations in SLC35C1, the gene that encodes a GDP-fucose transporter of the Golgi system. (Review) (PMID:22134107)
• the conserved glycine residues at positions 180 and 277 of SLC35C1 have significant impacts on lectin binding (PMID:22492235)
• Fx enzyme and GDP-L-Fuc Tr overexpression in the tumur tissue of colorectal cancer (CRC) patients suggests that GDP-L-Fuc transport to the Golgi apparatus may be an important factor associated with increased alpha(1,6)fucosylation in CRC. (PMID:23730929)
• two Turkish siblings with a novel mutation in GDP-fucose transporter and features of congenital disorder of glycosylation IIc (PMID:25239688)
• Down-regulation of SLC35C1 induces colon cancer through over-activating Wnt pathway. (PMID:31961998)
• Congenital disorders of glycosylation with defective fucosylation. (PMID:34389986)
• In vivo evidence for GDP-fucose transport in the absence of transporter SLC35C1 and putative transporter SLC35C2. (PMID:38270391)
• Mutations in the SLC35C1 gene, contributing to significant differences in fucosylation patterns, may underlie the diverse phenotypic manifestations observed in leukocyte adhesion deficiency type II patients. (PMID:38843991)

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	slc35c1	ENSDARG00000104669
mus_musculus	Slc35c1	ENSMUSG00000049922
rattus_norvegicus	Slc35c1	ENSRNOG00000007732
drosophila_melanogaster	nac	FBGN0265351
caenorhabditis_elegans		WBGENE00008237
caenorhabditis_elegans		WBGENE00011882

Paralogs (9): SLC35C2 (ENSG00000080189), SLC35E4 (ENSG00000100036), SLC35D1 (ENSG00000116704), SLC35E1 (ENSG00000127526), SLC35D2 (ENSG00000130958), TMEM241 (ENSG00000134490), SLC35E3 (ENSG00000175782), SLC35D3 (ENSG00000182747), SLC35E2B (ENSG00000189339)

Protein

Protein identifiers

GDP-fucose transporter 1 — Q96A29 (reviewed: Q96A29)

Alternative names: Solute carrier family 35 member C1

All UniProt accessions (4): Q96A29, B3KQH0, E9PPI4, E9PS26

UniProt curated annotations — full annotation on UniProt →

Function. Antiporter specific for GDP-l-fucose and depending on the concomitant reverse transport of GMP. Involved in GDP-fucose import from the cytoplasm into the Golgi lumen.

Subcellular location. Golgi apparatus membrane.

Disease relevance. Congenital disorder of glycosylation 2C (CDG2C) [MIM:266265] A multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. The clinical features of CDG2C include intellectual disability, short stature, facial stigmata, and recurrent bacterial peripheral infections with persistently elevated peripheral leukocytes. Biochemically, CDG2C is characterized by a lack of fucosylated glycoconjugates, including selectin ligands. The disease is caused by variants affecting the gene represented in this entry.

Similarity. Belongs to the TPT transporter family. SLC35C subfamily.

Isoforms (2)

UniProt ID	Names	Canonical?
Q96A29-1	1	yes
Q96A29-2	2

RefSeq proteins (5): NP_001138737, NP_001138738, NP_001412084, NP_001412085, NP_060859* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR004853	Sugar_P_trans_dom	Domain
IPR050186	TPT_transporter	Family

Pfam: PF03151

Catalyzed reactions (Rhea), 1 shown:

• GMP(out) + GDP-beta-L-fucose(in) = GMP(in) + GDP-beta-L-fucose(out) (RHEA:72707)

UniProt features (15 total): transmembrane region 8, sequence variant 4, chain 1, sequence conflict 1, splice variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q96A29-F1	82.38	0.43

Function

Pathways and Gene Ontology

Reactome pathways

3 pathways

ID	Pathway
R-HSA-5619078	Defective SLC35C1 causes congenital disorder of glycosylation 2C (CDG2C)
R-HSA-6787639	GDP-fucose biosynthesis
R-HSA-727802	Transport of nucleotide sugars

MSigDB gene sets: 0 (showing top):

GO Biological Process (7): GDP-fucose import into Golgi lumen (GO:0036085), GDP-L-fucose biosynthetic process (GO:0042350), ‘de novo’ GDP-L-fucose biosynthetic process (GO:0042351), GDP-L-fucose salvage (GO:0042352), negative regulation of Notch signaling pathway (GO:0045746), GDP-fucose transmembrane transport (GO:0015783), obsolete lipid glycosylation (GO:0030259)

GO Molecular Function (3): GDP-fucose transmembrane transporter activity (GO:0005457), antiporter activity (GO:0015297), protein binding (GO:0005515)

GO Cellular Component (3): Golgi membrane (GO:0000139), Golgi apparatus (GO:0005794), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-3 pathways:

Category	Pathways
SLC transporter disorders	1
Synthesis of substrates in N-glycan biosythesis	1
Transport of vitamins, nucleosides, and related molecules	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
GDP-fucose transmembrane transport	2
GDP-L-fucose biosynthetic process	2
cytosol to Golgi apparatus transport	1
nucleotide-sugar biosynthetic process	1
GDP-L-fucose metabolic process	1
GDP-mannose metabolic process	1
metabolic compound salvage	1
Notch signaling pathway	1
regulation of Notch signaling pathway	1
negative regulation of signal transduction	1
purine nucleotide-sugar transmembrane transport	1
purine nucleotide-sugar transmembrane transporter activity	1
secondary active transmembrane transporter activity	1
binding	1
Golgi apparatus	1
bounding membrane of organelle	1
cytoplasm	1
endomembrane system	1
intracellular membrane-bounded organelle	1
cellular anatomical structure	1

Protein interactions and networks

STRING

880 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SLC35C1	MAN2A2	P49641	856
SLC35C1	RAPGEF5	Q92565	838
SLC35C1	MAN2A1	Q16706	826
SLC35C1	GMDS	O60547	801
SLC35C1	SLC35H1	Q9NQQ7	789
SLC35C1	B4GALT1	P15291	784
SLC35C1	SELP	P16109	751
SLC35C1	SLC35A1	P78382	746
SLC35C1	FUT8	Q9BYC5	712
SLC35C1	SLC35E1	Q96K37	687
SLC35C1	SLC35B3	Q9H1N7	687
SLC35C1	FUT4	P22083	664
SLC35C1	SLC35B4	Q969S0	649
SLC35C1	MOGS	Q13724	638
SLC35C1	FCSK	Q8N0W3	623

IntAct

7 interactions, top by confidence:

A	B	Type	Score
SLC35C1	APOD	psi-mi:“MI:0915”(physical association)	0.590
SLC35C1	TMX1	psi-mi:“MI:0915”(physical association)	0.400
CUTC	SLC35C1	psi-mi:“MI:0914”(association)	0.350
SLC35C1	RP2	psi-mi:“MI:0914”(association)	0.350
SLC35C1	ADCY3	psi-mi:“MI:0914”(association)	0.350

BioGRID (23): APOD (Affinity Capture-MS), SLC35C1 (Affinity Capture-MS), SLC35C1 (Positive Genetic), TMX1 (Proximity Label-MS), SLC35C1 (Affinity Capture-RNA), APOD (Affinity Capture-MS), RP2 (Affinity Capture-MS), TMEM259 (Affinity Capture-MS), RABL3 (Affinity Capture-MS), SLC35C1 (Affinity Capture-MS), ADCY3 (Affinity Capture-MS), BAG2 (Affinity Capture-MS), DPY19L1 (Affinity Capture-MS), EPHA7 (Affinity Capture-MS), FLOT1 (Affinity Capture-MS)

ESM2 similar proteins: A0JMG9, A4IFK2, A4IHW3, A6QM03, A7S1L6, A7TES5, O74750, Q02334, Q05B73, Q17CE7, Q1JQ66, Q29EY2, Q29Q28, Q3E6T0, Q5M8T2, Q5RA79, Q61420, Q6CR04, Q6FSF8, Q6GQ70, Q6PGC7, Q753T9, Q755H7, Q7Q5D4, Q7Z769, Q84L08, Q8AWB6, Q8AXS6, Q8BGF8, Q8BLX4, Q8VCX2, Q8WZJ9, Q90X48, Q91ZR7, Q93890, Q94EI9, Q968A5, Q96A29, Q96G79, Q9C8M1

Diamond homologs: A6QM03, A7S1L6, A9UUB8, Q550W6, Q8BLX4, Q968A5, Q96A29, Q9VHT4, Q9UUI8

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	7
Likely pathogenic	2
Uncertain significance	173
Likely benign	118
Benign	18

Top pathogenic / likely-pathogenic (9)

Variant ID	HGVS	Classification
1173063	NM_018389.5(SLC35C1):c.891T>A (p.Asn297Lys)	Pathogenic
1514864	NM_018389.5(SLC35C1):c.778C>T (p.Gln260Ter)	Pathogenic
4293859	NM_018389.5(SLC35C1):c.267del (p.Gly90fs)	Pathogenic
4723157	NM_018389.5(SLC35C1):c.69dup (p.Ala24fs)	Pathogenic
4740	NM_018389.5(SLC35C1):c.923C>G (p.Thr308Arg)	Pathogenic
836912	NM_018389.5(SLC35C1):c.367del (p.Val123fs)	Pathogenic
95906	NM_018389.5(SLC35C1):c.91G>T (p.Glu31Ter)	Pathogenic
1184819	NM_018389.5(SLC35C1):c.887A>G (p.His296Arg)	Likely pathogenic
4739	NM_018389.5(SLC35C1):c.439C>T (p.Arg147Cys)	Likely pathogenic

SpliceAI

470 predictions. Top by Δscore:

Variant	Effect	Δscore
11:45804589:G:GT	donor_gain	1.0000
11:45804590:G:T	donor_gain	1.0000
11:45806335:CGGTG:C	donor_loss	1.0000
11:45806337:G:GG	donor_gain	1.0000
11:45806337:GTGAG:G	donor_loss	1.0000
11:45806338:TGAGT:T	donor_loss	1.0000
11:45806339:GAGTG:G	donor_loss	1.0000
11:45810771:T:A	acceptor_gain	1.0000
11:45810771:TGCA:T	acceptor_loss	1.0000
11:45810774:A:AG	acceptor_gain	1.0000
11:45810774:A:T	acceptor_loss	1.0000
11:45810774:AG:A	acceptor_gain	1.0000
11:45810774:AGG:A	acceptor_gain	1.0000
11:45810774:AGGG:A	acceptor_gain	1.0000
11:45810774:AGGGG:A	acceptor_gain	1.0000
11:45810775:G:GT	acceptor_gain	1.0000
11:45810775:GG:G	acceptor_gain	1.0000
11:45810775:GGG:G	acceptor_gain	1.0000
11:45810775:GGGG:G	acceptor_gain	1.0000
11:45810775:GGGGG:G	acceptor_gain	1.0000
11:45804515:GGG:G	donor_gain	0.9900
11:45804516:GG:G	donor_gain	0.9900
11:45804516:GGG:G	donor_gain	0.9900
11:45804517:GG:G	donor_gain	0.9900
11:45804637:G:GT	donor_gain	0.9900
11:45804637:G:T	donor_gain	0.9900
11:45810769:A:AG	acceptor_gain	0.9900
11:45810769:ACT:A	acceptor_gain	0.9900
11:45804514:AGGGG:A	donor_loss	0.9800
11:45804515:GGGGT:G	donor_loss	0.9800

AlphaMissense

2342 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:45810856:A:C	S206R	0.999
11:45810858:C:A	S206R	0.999
11:45810858:C:G	S206R	0.999
11:45811145:C:A	A302D	0.999
11:45811149:G:C	K303N	0.998
11:45811149:G:T	K303N	0.998
11:45811216:A:C	S326R	0.998
11:45811218:C:A	S326R	0.998
11:45811218:C:G	S326R	0.998
11:45811144:G:C	A302P	0.997
11:45806205:T:A	L135H	0.995
11:45810781:T:C	F181L	0.995
11:45810783:C:A	F181L	0.995
11:45810783:C:G	F181L	0.995
11:45810869:C:G	S210W	0.995
11:45811238:G:A	G333D	0.995
11:45806171:T:C	F124L	0.994
11:45806173:C:A	F124L	0.994
11:45806173:C:G	F124L	0.994
11:45806197:C:A	N132K	0.994
11:45806197:C:G	N132K	0.994
11:45806205:T:C	L135P	0.994
11:45806240:C:A	R147S	0.994
11:45806241:G:C	R147P	0.994
11:45810845:G:A	G202D	0.994
11:45811114:A:C	S292R	0.994
11:45811116:T:A	S292R	0.994
11:45811116:T:G	S292R	0.994
11:45811217:G:T	S326I	0.994
11:45806182:G:A	M127I	0.993

dbSNP variants (sampled 300 via entrez): RS1000103960 (11:45813275 G>A), RS1000173290 (11:45811799 G>A,T), RS1000253910 (11:45807451 G>A), RS1000550077 (11:45808447 G>A), RS1000763861 (11:45802604 C>A,G), RS1000874585 (11:45810021 G>T), RS1000969007 (11:45810220 T>G), RS1001485897 (11:45803833 G>T), RS1001549490 (11:45806859 G>A), RS1001781860 (11:45807598 G>A), RS1001934287 (11:45813225 C>A), RS1002094001 (11:45802290 A>G,T), RS1002222751 (11:45809809 C>T), RS1002276542 (11:45810260 A>C,G), RS1002385117 (11:45803967 C>A,G)

Disease associations

OMIM: gene MIM:605881 | disease phenotypes: MIM:266265

GenCC curated gene-disease

Disease	Classification	Inheritance
leukocyte adhesion deficiency type II	Definitive	Autosomal recessive

ClinGen Gene-Disease Validity (1)

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

Disease	Classification	Inheritance
leukocyte adhesion deficiency type II	Strong	AR

Mondo (3): leukocyte adhesion deficiency type II (MONDO:0009953), prostate cancer (MONDO:0008315), intellectual disability (MONDO:0001071)

Orphanet (4): Leukocyte adhesion deficiency (Orphanet:2968), Leukocyte adhesion deficiency type II (Orphanet:99843), Familial prostate cancer (Orphanet:1331), NON RARE IN EUROPE: Unexplained intellectual disability (Orphanet:319658)

HPO phenotypes

88 total (30 of 88 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000010	Recurrent urinary tract infections
HP:0000166	Severe periodontitis
HP:0000189	Narrow palate
HP:0000212	Gingival overgrowth
HP:0000252	Microcephaly
HP:0000280	Coarse facial features
HP:0000294	Low anterior hairline
HP:0000303	Mandibular prognathia
HP:0000316	Hypertelorism
HP:0000349	Widow’s peak
HP:0000385	Small earlobe
HP:0000403	Recurrent otitis media
HP:0000405	Conductive hearing impairment
HP:0000414	Bulbous nose
HP:0000431	Wide nasal bridge
HP:0000457	Depressed nasal ridge
HP:0000491	Keratitis
HP:0000527	Long eyelashes
HP:0000704	Periodontitis
HP:0000717	Autism
HP:0000722	Compulsive behaviors
HP:0000729	Autistic behavior
HP:0000739	Anxiety
HP:0000750	Delayed speech and language development
HP:0001156	Brachydactyly
HP:0001169	Broad palm
HP:0001212	Prominent fingertip pads
HP:0001249	Intellectual disability
HP:0001250	Seizure

GWAS associations

3 associations (top):

Study	Trait	p-value
GCST001525_28	Visceral fat	9.000000e-06
GCST002115_15	Axial length	2.000000e-06
GCST003671_3	Diastolic blood pressure	4.000000e-07

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0005318	axial length measurement
EFO:0006336	diastolic blood pressure

MeSH disease descriptors (3)

Descriptor	Name	Tree numbers
D008607	Intellectual Disability	C10.597.606.360; C23.888.592.604.646; F01.700.687; F03.625.539
D011471	Prostatic Neoplasms	C04.588.945.440.770; C12.100.500.260.750; C12.100.500.565.625; C12.200.294.260.750; C12.200.294.565.625; C12.200.758.409.750; C12.900.619.750
C535755	Congenital disorder of glycosylation, type 2C (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

GtoPdb / IUPHAR curated pharmacology

(IUPHAR/BPS Guide to Pharmacology — expert-curated)

Target class: transporter — SLC35 family of nucleotide sugar transporters

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Estradiol	increases expression, affects cotreatment	2
Valproic Acid	increases expression, decreases expression, affects cotreatment	2
GSK-J4	decreases expression	1
bisphenol F	affects cotreatment, increases expression	1
bisphenol A	increases expression, affects cotreatment	1
sodium arsenite	increases expression	1
perfluorooctanoic acid	affects cotreatment, increases expression	1
di-n-butylphosphoric acid	affects expression	1
perfluorooctane sulfonic acid	increases expression	1
abrine	decreases expression	1
Sunitinib	decreases expression	1
Acetaminophen	decreases expression	1
Vehicle Emissions	increases expression	1
Benzo(a)pyrene	affects methylation	1
Cosmetics	affects cotreatment, increases expression	1
Dexamethasone	affects cotreatment, increases expression	1
Doxorubicin	decreases expression	1
Flame Retardants	affects cotreatment, increases expression	1
Hydralazine	increases expression, affects cotreatment	1
Indomethacin	affects cotreatment, increases expression	1
Plasticizers	affects cotreatment, increases expression	1
Smoke	decreases expression	1
Tobacco Smoke Pollution	increases expression	1
Triclosan	increases methylation	1
1-Methyl-3-isobutylxanthine	affects cotreatment, increases expression	1
Aflatoxin B1	decreases methylation	1
Copper Sulfate	decreases expression	1
Lactic Acid	decreases expression	1
Phytoestrogens	affects cotreatment, increases expression	1
Particulate Matter	increases expression	1

Cellosaurus cell lines

7 cell lines: 7 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_B2G1	Abcam HeLa SLC35C1 KO	Cancer cell line	Female
CVCL_D4M5	HCT116-SLC35C1-KO-c1	Cancer cell line	Male
CVCL_D4M6	HCT116-SLC35C1-KO-c2	Cancer cell line	Male
CVCL_D8VC	Ubigene HCT 116 SLC35C1 KO	Cancer cell line	Male
CVCL_E0V1	Ubigene Hep G2 SLC35C1 KO	Cancer cell line	Male
CVCL_TN14	HAP1 SLC35C1 (-) 1	Cancer cell line	Male
CVCL_XT21	HAP1 SLC35C1 (-) 2	Cancer cell line	Male

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00029224	PHASE4	COMPLETED	Treatment With Zoledronic Acid in Patients With Breast Cancer, Multiple Myeloma, and Prostate Cancer With Cancer Related Bone Lesions
NCT00035997	PHASE4	COMPLETED	Open-label Trial on the Effect of I.V. Zoledronic Acid 4 mg on Bone Density in Hormone Sensitive Prostate Cancer Patients With Bone Metastasis
NCT00063609	PHASE4	COMPLETED	The Effect of Zoledronic Acid on Bone Loss in Prostate Cancer Patients Undergoing Androgen Deprivation Therapy
NCT00103623	PHASE4	SUSPENDED	The Plenaxis® Experience Study
NCT00106392	PHASE4	COMPLETED	A Safety and Efficacy Study of Prograf in the Prevention of Erectile Dysfunction After Radical Prostatectomy
NCT00185029	PHASE4	UNKNOWN	MR-Lymphography and Lymph Node Staging in Prostate Cancer
NCT00199485	PHASE4	COMPLETED	Angelica Sinensis for the Treatment of Hot Flashes in Men Undergoing LHRH Therapy for Prostate Cancer
NCT00219219	PHASE4	COMPLETED	Zoledronic Acid in the Prevention of Skeletal-related Events in Hormone Refractory and Hormone-sensitive Prostate Cancer Patients With Bone Metastases
NCT00219271	PHASE4	COMPLETED	Effect Of Zoledronic Acid On Circulating And Bone Marrow-Residing Prostate Cancer Cells In Patients With Clinically Localized Prostate Cancer
NCT00237146	PHASE4	COMPLETED	Study to Evaluate Zoledronic Acid on Quality of Life and Skeletal-related Events as Adjuvant Treatment in Patients With Hormone-naïve Prostate Cancer and Bone Metastasis Who Have Undergone Orchiectomy
NCT00242554	PHASE4	COMPLETED	Open-label Phase IV Clinical Trial to Evaluate the Safety and Tolerability of Zoledronic Acid in Patients With Prostate Cancer and Bone Metastases
NCT00280098	PHASE4	COMPLETED	Docetaxel in the Treatment of Hormone Refractory Prostate Cancer
NCT00293696	PHASE4	COMPLETED	Casodex/Zoladex Biomarkers in Localised Prostate Cancer
NCT00334139	PHASE4	COMPLETED	Effect of Zoledronic Acid on Bone Metabolism in Patients With Bone Metastasis and Prostate or Breast Cancer
NCT00375765	PHASE4	COMPLETED	Effects On Dihydrotestosterone Regulated Gene Expression In Benign Prostatic Hyperplasia Or Prostate Cancer
NCT00391690	PHASE4	COMPLETED	Evaluation of Bone Markers as Diagnostic Tools for Early Detection of Bone Metastases in Patients With High Risk Prostate Cancer
NCT00422708	PHASE4	COMPLETED	Local Anesthesia for Prostate Biopsy
NCT00526331	PHASE4	COMPLETED	Evaluation of Arterial Pressure Based Cardiac Output for Goal-Directed Perioperative Therapy
NCT00590213	PHASE4	COMPLETED	Compare the Value of Prophylactic Versus Therapeutic Breast Radiotherapy in CASODEX
NCT00629330	PHASE4	TERMINATED	Dissemination of Prostate Cancer Screening to PCP’s in African American Communities
NCT00771966	PHASE4	COMPLETED	Radical Prostatectomy and Perioperative Fluid Therapy
NCT00805701	PHASE4	COMPLETED	Study Assessing The Efficacy And Safety Of Avodart (Dutasteride) At Improving Urinary Symptoms In Men With Prostate Cancer Who Are Undergoing Seed Implantation
NCT00859027	PHASE4	COMPLETED	Effect Of Risedronate On Bone Mass In Older Men Receiving Neoadjuvant Therapy For Prostate Cancer
NCT00906269	PHASE4	UNKNOWN	Can Hyperbaric Oxygen Improve Erectile Function Following Surgery for Prostate Cancer
NCT00953277	PHASE4	COMPLETED	Study of Nerve Reconstruction Using AVANCE in Subjects Who Undergo Robotic Assisted Prostatectomy for Treatment of Prostate Cancer
NCT00982800	PHASE4	COMPLETED	Does Postoperative Gabapentin Reduce Pain, Opioid Consumption and Anxiety and Have a Positive Effect on Health Related Quality of Life After Radical Prostatectomy?
NCT01083199	PHASE4	COMPLETED	Global Performance Evaluation of the AMS CONTINUUM™ Device
NCT01136226	PHASE4	COMPLETED	Evaluate Recovery of Testosterone for Patients Using Eligard
NCT01161563	PHASE4	COMPLETED	Randomized Crossover Trial to Assess the Tolerability of Gonadotropin Releasing Hormone (GnRH) Analogue Administration
NCT01230905	PHASE4	COMPLETED	Study to Monitor the Effects of Androgen Suppression Treatment on the Heart
NCT01296672	PHASE4	COMPLETED	3 Month Finasteride Challenge Test Can Significantly Improve the Performance of Screening for Prostate Cancer
NCT01365143	PHASE4	TERMINATED	Prospective Randomized Trial Comparing Robotic Versus Open Radical Prostatectomy
NCT01379742	PHASE4	UNKNOWN	Comparison of Between ThinSeed™ and OncoSeed™ for Permanent Prostate Brachytherapy
NCT01486563	PHASE4	COMPLETED	Hydroxyethyl Starch and Renal Function After Radical Prostatectomy
NCT01511874	PHASE4	COMPLETED	Efficacy and Safety Study of ELIGARD 22.5mg With Prostate Cancer
NCT01512472	PHASE4	TERMINATED	Firmagon (Degarelix) Intermittent Therapy
NCT01547416	PHASE4	COMPLETED	The Effect of Combined General/Epidural Anesthesia Versus General Anesthesia on Diaphragmatic Function
NCT01571544	PHASE4	COMPLETED	The Use of Thermal Suits as Preventing Hypothermia During Surgery
NCT01581749	PHASE4	UNKNOWN	Evaluation of Truebeam for Low-Intermediate Risk Prostate Cancer
NCT01649635	PHASE4	COMPLETED	Study of Cabazitaxel Combined With Prednisone and Prophylaxis of Neutropenia Complications in the Treatment of Patients With Metastatic Castration-resistant Prostate Cancer