MCEMP1

Summary

MCEMP1 (mast cell expressed membrane protein 1, HGNC:27291) is a protein-coding gene on chromosome 19p13.2, encoding Mast cell-expressed membrane protein 1 (Q8IX19).

This gene encodes a single-pass transmembrane protein. Based on its expression pattern, it is speculated to be involved in regulating mast cell differentiation or immune responses.

Source: NCBI Gene 199675 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 19 total
• MANE Select transcript: NM_174918

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:27291
Approved symbol	MCEMP1
Name	mast cell expressed membrane protein 1
Location	19p13.2
Locus type	gene with protein product
Status	Approved
Aliases	MGC132456
Ensembl gene	ENSG00000183019
Ensembl biotype	protein_coding
OMIM	609565
Entrez	199675

Gene structure

Transcript identifiers

Ensembl transcripts: 4 — 3 protein_coding, 1 retained_intron

ENST00000333598, ENST00000597445, ENST00000598851, ENST00000950369

RefSeq mRNA: 1 — MANE Select: NM_174918 NM_174918

CCDS: CCDS12183

Canonical transcript exons

ENST00000333598 — 7 exons

Exon	Start	End
ENSE00001307153	7678104	7678241
ENSE00001321470	7679098	7679829
ENSE00001327405	7677637	7677726
ENSE00002991851	7677090	7677175
ENSE00003579774	7678350	7678400
ENSE00003583525	7678491	7678604
ENSE00003609595	7678924	7678983

Expression profiles

Bgee: expression breadth ubiquitous, 159 present calls, max score 95.68.

FANTOM5 (CAGE): breadth broad, TPM avg 5.5440 / max 1302.0576, expressed in 201 samples.

FANTOM5 promoters (6 alternative TSS)

Promoter ID	TPM avg	Samples expressed
173591	2.5733	169
173593	1.3636	70
173592	0.9338	70
173595	0.3840	43
173590	0.1487	67
173594	0.1407	25

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
monocyte	CL:0000576	95.68	gold quality
leukocyte	CL:0000738	95.31	gold quality
bone marrow	UBERON:0002371	94.96	gold quality
right lung	UBERON:0002167	94.29	gold quality
trabecular bone tissue	UBERON:0002483	94.24	gold quality
lower lobe of lung	UBERON:0008949	92.07	gold quality
blood	UBERON:0000178	91.91	gold quality
granulocyte	CL:0000094	91.26	gold quality
visceral pleura	UBERON:0002401	90.82	gold quality
upper lobe of left lung	UBERON:0008952	90.06	gold quality
bone marrow cell	CL:0002092	89.95	gold quality
upper lobe of lung	UBERON:0008948	89.90	gold quality
lung	UBERON:0002048	87.66	gold quality
spleen	UBERON:0002106	87.20	gold quality
pancreatic ductal cell	CL:0002079	86.20	silver quality
vermiform appendix	UBERON:0001154	79.69	gold quality
amniotic fluid	UBERON:0000173	78.09	gold quality
bronchial epithelial cell	CL:0002328	71.65	gold quality
caecum	UBERON:0001153	71.24	gold quality
bronchus	UBERON:0002185	70.62	gold quality
palpebral conjunctiva	UBERON:0001812	68.14	gold quality
tibialis anterior	UBERON:0001385	67.34	silver quality
adult organism	UBERON:0007023	67.34	gold quality
epithelial cell of pancreas	CL:0000083	67.15	silver quality
omental fat pad	UBERON:0010414	64.94	gold quality
peritoneum	UBERON:0002358	64.88	gold quality
adipose tissue of abdominal region	UBERON:0007808	64.59	gold quality
cartilage tissue	UBERON:0002418	64.29	gold quality
left uterine tube	UBERON:0001303	63.58	gold quality
medial globus pallidus	UBERON:0002477	63.37	silver quality

Single-cell (SCXA)

Detected in 7 experiment(s), a significant marker in 7.

Experiment	Marker?	Max mean expression
E-GEOD-130148	yes	1978.73
E-HCAD-15	yes	1353.31
E-MTAB-6653	yes	1129.72
E-CURD-122	yes	68.01
E-CURD-112	yes	8.34
E-MTAB-9801	yes	7.34
E-ANND-3	yes	5.55

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

21 targeting MCEMP1, 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-8485	100.00	77.57	4731
HSA-MIR-3064-3P	100.00	70.09	1254
HSA-MIR-3941	99.86	70.54	2735
HSA-MIR-623	99.76	68.16	1170
HSA-MIR-4719	99.73	72.10	3329
HSA-MIR-4446-5P	99.72	69.19	2544
HSA-MIR-4755-5P	99.71	70.34	2716
HSA-MIR-5006-3P	99.71	70.26	2728
HSA-MIR-4756-3P	99.62	66.30	1319
HSA-MIR-141-5P	99.57	67.86	897
HSA-MIR-3678-3P	99.31	67.10	1432
HSA-MIR-3692-5P	99.29	67.04	1421
HSA-MIR-642A-3P	99.23	67.67	1258
HSA-MIR-642B-3P	99.23	67.67	1258
HSA-MIR-4780	98.57	64.75	611
HSA-MIR-1910-5P	97.42	66.36	844
HSA-MIR-3192-5P	96.98	65.76	1926
HSA-MIR-4474-3P	96.97	65.87	870
HSA-MIR-4524B-3P	95.52	64.12	964
HSA-MIR-1229-5P	94.57	65.78	487
HSA-MIR-5684	93.17	64.85	454

Literature-anchored findings (GeneRIF, showing 2)

• The expression of the gene MCEMP1 had the strongest association with stroke of 11,181 genes tested. (PMID:26846866)
• Mast-cell expressed membrane protein-1 is expressed in classical monocytes and alveolar macrophages in idiopathic pulmonary fibrosis and regulates cell chemotaxis, adhesion, and migration in a TGFbeta-dependent manner. (PMID:38189137)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Mcemp1	ENSMUSG00000013974
rattus_norvegicus	Mcemp1	ENSRNOG00000028259

Protein

Protein identifiers

Mast cell-expressed membrane protein 1 — Q8IX19 (reviewed: Q8IX19)

All UniProt accessions (2): M0R0S5, Q8IX19

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Membrane.

Tissue specificity. Expressed specifically in mast cells. Found primarily in lung.

Miscellaneous. Alternative initiation is supported by proteomic data. Initiation from a downstream AUG is also supported by proteomic data.

Isoforms (2)

UniProt ID	Names	Canonical?
Q8IX19-1	1	yes
Q8IX19-2	2

RefSeq proteins (1): NP_777578* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR038818	MCEMP1	Family

UniProt features (10 total): sequence variant 3, topological domain 2, chain 1, transmembrane region 1, region of interest 1, glycosylation site 1, splice variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8IX19-F1	75.43	0.53

Functional residue map

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

Glycosylation sites (1): 124

Function

Pathways and Gene Ontology

Reactome pathways

3 pathways

ID	Pathway
R-HSA-6798695	Neutrophil degranulation
R-HSA-168249	Innate Immune System
R-HSA-168256	Immune System

MSigDB gene sets: 91 (showing top): REACTOME_INNATE_IMMUNE_SYSTEM, GOCC_SECRETORY_GRANULE, CEBPB_01, BROWN_MYELOID_CELL_DEVELOPMENT_UP, GOCC_SECRETORY_VESICLE, GOCC_SPECIFIC_GRANULE, GOCC_SECRETORY_GRANULE_MEMBRANE, chr19p13, KRIGE_RESPONSE_TO_TOSEDOSTAT_24HR_UP, MARTENS_TRETINOIN_RESPONSE_UP, WIERENGA_STAT5A_TARGETS_DN, GOCC_SPECIFIC_GRANULE_MEMBRANE, GOCC_TERTIARY_GRANULE, GOCC_TERTIARY_GRANULE_MEMBRANE, REACTOME_NEUTROPHIL_DEGRANULATION

GO Biological Process (0):

GO Molecular Function (2): identical protein binding (GO:0042802), protein binding (GO:0005515)

GO Cellular Component (4): plasma membrane (GO:0005886), specific granule membrane (GO:0035579), tertiary granule membrane (GO:0070821), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
Innate Immune System	1
Immune System	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
secretory granule membrane	2
protein binding	1
binding	1
membrane	1
cell periphery	1
specific granule	1
tertiary granule	1
cellular anatomical structure	1

Protein interactions and networks

STRING

734 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MCEMP1	CLEC12A	Q5QGZ9	506
MCEMP1	SIRPA	P78324	466
MCEMP1	CEACAM1	P13688	464
MCEMP1	NFKB1	P19838	447
MCEMP1	PET100	P0DJ07	444
MCEMP1	PCP2	Q8IVA1	442
MCEMP1	PPM1N	Q8N819	432
MCEMP1	CD93	Q9NPY3	427
MCEMP1	OLR1	P78380	427
MCEMP1	PTPRB	P23467	405
MCEMP1	CD59	P13987	403
MCEMP1	CLEC4D	Q8WXI8	401
MCEMP1	SCARB2	Q14108	400
MCEMP1	CD36	P16671	399
MCEMP1	SCARB1	Q8WTV0	397

IntAct

42 interactions, top by confidence:

A	B	Type	Score
MCEMP1	JOSD2	psi-mi:“MI:0915”(physical association)	0.560
PRAF2	MCEMP1	psi-mi:“MI:0915”(physical association)	0.560
ATP6V0C	MCEMP1	psi-mi:“MI:0915”(physical association)	0.560
CNIH1	MCEMP1	psi-mi:“MI:0915”(physical association)	0.560
MALL	MCEMP1	psi-mi:“MI:0915”(physical association)	0.560
MCEMP1	MCEMP1	psi-mi:“MI:0915”(physical association)	0.560
MCEMP1	ZDHHC15	psi-mi:“MI:0915”(physical association)	0.560
MCEMP1	CMTM5	psi-mi:“MI:0915”(physical association)	0.560
ASGR2	MCEMP1	psi-mi:“MI:0915”(physical association)	0.560
DGAT2L6	MCEMP1	psi-mi:“MI:0915”(physical association)	0.560
ASGR1	MCEMP1	psi-mi:“MI:0915”(physical association)	0.560
ARL6IP1	MCEMP1	psi-mi:“MI:0915”(physical association)	0.560
MCEMP1	GUK1	psi-mi:“MI:0914”(association)	0.350
PRAF2	MCEMP1	psi-mi:“MI:0915”(physical association)	0.000
MCEMP1	MCEMP1	psi-mi:“MI:0915”(physical association)	0.000
ATP6V0C	MCEMP1	psi-mi:“MI:0915”(physical association)	0.000
CNIH1	MCEMP1	psi-mi:“MI:0915”(physical association)	0.000
MALL	MCEMP1	psi-mi:“MI:0915”(physical association)	0.000
ZDHHC15	MCEMP1	psi-mi:“MI:0915”(physical association)	0.000
ASGR1	MCEMP1	psi-mi:“MI:0915”(physical association)	0.000
CMTM5	MCEMP1	psi-mi:“MI:0915”(physical association)	0.000
MCEMP1	ASGR2	psi-mi:“MI:0915”(physical association)	0.000
DGAT2L6	MCEMP1	psi-mi:“MI:0915”(physical association)	0.000
ARL6IP1	MCEMP1	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (16): JOSD2 (Affinity Capture-MS), JOSD2 (Affinity Capture-MS), MCEMP1 (Two-hybrid), MCEMP1 (Two-hybrid), MCEMP1 (Two-hybrid), MCEMP1 (Two-hybrid), MCEMP1 (Two-hybrid), MCEMP1 (Two-hybrid), MCEMP1 (Two-hybrid), MCEMP1 (Two-hybrid), DGAT2L6 (Two-hybrid), ATP6V0C (Two-hybrid), PRAF2 (Two-hybrid), MCEMP1 (Affinity Capture-RNA), GUK1 (Affinity Capture-MS)

ESM2 similar proteins: A4KWA1, D4AD02, O70156, O70215, O95971, P08290, P21854, P21855, P22272, P22273, P24721, P25118, P27471, P27811, P27812, P27814, P34902, P49300, P49301, Q01114, Q0VCS6, Q149M0, Q2HXU8, Q2NL33, Q3B8P2, Q566E6, Q5NKN2, Q5QGZ9, Q60513, Q60660, Q6QLQ4, Q6SJQ7, Q6UXB4, Q6UXN8, Q8BNX1, Q8BRU4, Q8BWY2, Q8C1T8, Q8IUN9, Q8IX19

Diamond homologs: Q8IX19, Q9D8U6

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	12
Likely benign	2
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

925 predictions. Top by Δscore:

Variant	Effect	Δscore
19:7677112:G:GT	donor_gain	1.0000
19:7677142:G:T	donor_gain	1.0000
19:7677154:G:GT	donor_gain	1.0000
19:7678102:A:AG	acceptor_gain	1.0000
19:7678103:G:GA	acceptor_gain	1.0000
19:7678237:GAAGA:G	donor_gain	1.0000
19:7678239:AGAG:A	donor_loss	1.0000
19:7678240:GA:G	donor_gain	1.0000
19:7678242:G:C	donor_loss	1.0000
19:7678242:G:GG	donor_gain	1.0000
19:7678313:T:TA	acceptor_gain	1.0000
19:7678314:G:A	acceptor_gain	1.0000
19:7678922:AGG:A	acceptor_loss	1.0000
19:7677727:G:GC	donor_loss	0.9900
19:7677728:T:A	donor_loss	0.9900
19:7678096:T:TA	acceptor_gain	0.9900
19:7678103:G:GT	acceptor_loss	0.9900
19:7678103:GT:G	acceptor_gain	0.9900
19:7678103:GTC:G	acceptor_gain	0.9900
19:7678103:GTCC:G	acceptor_gain	0.9900
19:7678103:GTCCC:G	acceptor_gain	0.9900
19:7678239:AGA:A	donor_gain	0.9900
19:7678240:GAG:G	donor_gain	0.9900
19:7678244:GAGTA:G	donor_loss	0.9900
19:7678245:AGT:A	donor_loss	0.9900
19:7678246:G:GG	donor_gain	0.9900
19:7678387:G:GT	donor_gain	0.9900
19:7678489:A:AG	acceptor_gain	0.9900
19:7678490:G:GG	acceptor_gain	0.9900
19:7678614:T:TA	donor_gain	0.9900

AlphaMissense

1230 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
19:7678172:A:C	S85R	0.937
19:7678174:C:A	S85R	0.937
19:7678174:C:G	S85R	0.937
19:7678208:T:C	C97R	0.936
19:7678392:T:C	L122P	0.914
19:7678383:A:T	K119I	0.911
19:7677662:T:A	N40K	0.903
19:7677662:T:G	N40K	0.903
19:7678371:T:C	L115P	0.886
19:7677675:T:C	F45L	0.885
19:7677677:C:A	F45L	0.885
19:7677677:C:G	F45L	0.885
19:7678493:T:C	S126P	0.873
19:7677664:T:C	I41T	0.871
19:7678384:A:C	K119N	0.839
19:7678384:A:T	K119N	0.839
19:7677664:T:G	I41S	0.834
19:7677654:T:C	Y38H	0.829
19:7677661:A:T	N40I	0.822
19:7677659:G:C	E39D	0.814
19:7677659:G:T	E39D	0.814
19:7678240:G:C	K107N	0.800
19:7678240:G:T	K107N	0.800
19:7677661:A:C	N40T	0.793
19:7678199:T:C	F94L	0.784
19:7678201:T:A	F94L	0.784
19:7678201:T:G	F94L	0.784
19:7678499:T:C	S128P	0.782
19:7678969:T:C	L178P	0.777
19:7678224:C:A	A102D	0.776

dbSNP variants (sampled 300 via entrez): RS1000274168 (19:7675653 C>T), RS1000646037 (19:7675210 G>A), RS1001094088 (19:7679301 CGTGT>C,CGT), RS1001908911 (19:7676597 C>A,G,T), RS1001967496 (19:7679156 T>C), RS1002194581 (19:7676303 T>G), RS1002579530 (19:7678903 C>A,G,T), RS1002794302 (19:7675126 T>A), RS1002969179 (19:7680321 C>T), RS1003001701 (19:7680079 G>A,T), RS1003464243 (19:7677541 C>G), RS1003872861 (19:7676310 C>T), RS1004213947 (19:7676542 G>A), RS1005764157 (19:7678908 C>G,T), RS1006093725 (19:7676248 C>T)

Disease associations

OMIM: gene MIM:609565 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

19 total (human), top 19 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
alpha phellandrene	increases expression	1
triphenyl phosphate	affects expression	1
cobaltous chloride	increases expression	1
S-(1,2-dichlorovinyl)cysteine	affects cotreatment, decreases expression	1
di-n-butylphosphoric acid	affects expression	1
Pioglitazone	increases expression	1
Allergens	decreases expression	1
Benzene	increases expression	1
Benzo(a)pyrene	affects methylation	1
Cisplatin	increases expression	1
Iron	increases expression	1
Lipopolysaccharides	decreases expression, affects cotreatment	1
Tetrachlorodibenzodioxin	decreases expression	1
Tobacco Smoke Pollution	increases expression	1
Tretinoin	increases expression	1
Vitamin D	affects expression	1
Aflatoxin B1	increases expression	1
Antirheumatic Agents	decreases expression	1
beta-Naphthoflavone	increases expression	1

Clinical trials (associated diseases)

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