EMC1 (ER membrane protein complex subunit 1)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 23065
Gene name ER membrane protein complex subunit 1
Gene symbol EMC1
Synonyms (NCBI Gene)
CAVIPMRKIAA0090
Chromosome 1
Chromosome location 1p36.13
Summary This gene encodes a single-pass type I transmembrane protein, which is a subunit of the endoplasmic reticulum membrane protein complex (EMC). Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [pr
SNPs SNP information provided by dbSNP.
3
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (3)
SNP ID Visualize variation Clinical significance Consequence
rs148538980 G>A,C Likely-pathogenic Stop gained, missense variant, coding sequence variant
rs751484278 C>G,T Likely-pathogenic Splice acceptor variant
rs869320625 G>A Pathogenic, not-provided, uncertain-significance Missense variant, coding sequence variant, intron variant
miRNA miRNA information provided by mirtarbase database.
293
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (293)
miRTarBase ID miRNA Experiments Reference
MIRT024455 hsa-miR-215-5p Microarray 19074876
MIRT026217 hsa-miR-192-5p Microarray 19074876
MIRT046378 hsa-miR-23b-3p CLASH 23622248
MIRT046099 hsa-miR-125b-5p CLASH 23622248
MIRT041214 hsa-miR-193b-3p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
17
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (17)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 32353859, 33060197, 36217030
GO:0005783 Component Endoplasmic reticulum IEA
GO:0005789 Component Endoplasmic reticulum membrane IDA 22119785, 32439656
GO:0005789 Component Endoplasmic reticulum membrane IEA
GO:0005789 Component Endoplasmic reticulum membrane NAS 29242231
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
616846 28957 ENSG00000127463
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8N766
Protein name ER membrane protein complex subunit 1
Protein function Part of the endoplasmic reticulum membrane protein complex (EMC) that enables the energy-independent insertion into endoplasmic reticulum membranes of newly synthesized membrane proteins (PubMed:29242231, PubMed:29809151, PubMed:30415835, PubMed
PDB 6WW7 , 6Z3W , 7ADO , 7ADP , 8EOI , 8J0N , 8J0O , 8S9S , 9C7V
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13360 PQQ_2 22 → 252 PQQ-like domain Domain
PF07774 EMC1_C 787 → 992 ER membrane protein complex subunit 1, C-terminal Domain
Sequence 
MAAEWASRFWLWATLLIPAAAVYEDQVGKFDWRQQYVGKVKFASLEFSPGSKKLVVATEK
NVIAALNSRTGEILWRHVDKGTAEGAVDAMLLHGQDVITVSNGGRIMRSWETNIGGLNWE
ITLDSGSFQALGLVGLQESVRYIAVLKKTTLALHHLSSGHLKWVEHLPESDSIHYQMVYS
YGSGVVWALGVVPFSHVNIVKFNVEDGEIVQQVRVSTPWLQHLSGACGVVDEAVLVCPDP
SSRSLQTLALETEWELRQIPLQSLDLEFGSGFQPRVLPTQPNPVDASRAQFFLHLSPSHY
ALLQYHYGTLSLLKNFPQTALVSFATTGEKTVAAVMACRNEVQKSSSSEDGSMGSFSEKS
SSKDSLACFNQTYTINLYLVETGRRLLDTTITFSLEQSGTRPERLYIQVFLKKDDSVGYR
ALVQTEDHLLLFLQQLAGKVVLWSREESLAEVVCLEMVDLPLTGAQAELEGEFGKKADGL
LGMFLKRLSSQLILLQAWTSHLWKMFYDARKPRSQIKNEINIDTLARDEFNLQKMMVMVT
ASGKLFGIESSSGTILWKQYLPNVKPDSSFKLMVQRTTAHFPHPPQCTLLVKDKESGMSS
LYVFNPIFGKWSQVAPPVLKRPILQSLLLPVMDQDYAKVLLLIDDEYKVTAFPATRNVLR
QLHELAPSIFFYLVDAEQGRLCGYRLRKDLTTELSWELTIPPEVQRIVKVKGKRSSEHVH
SQGRVMGDRSVLYKSLNPNLLAVVTESTDAHHERTFIGIFLIDGVTGRIIHSSVQKKAKG
PVHIVHSENWVVYQYWNTKARRNEFTVLELYEGTEQYNATAFSSLDRPQLPQVLQQSYIF
PSSISAMEATITERGITSRHLLIGLPSGAILSLPKALLDPRRPEIPTEQSREENLIPYSP
DVQIHAERFINYNQTVSRMRGIYTAPSGLESTCLVVAYGLDIYQTRVYPSKQFDVLKDDY
DYVLISSVLFGLVFATMITKRLAQVKLLNRAWR
Sequence length 993
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
22
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Causal Diseases (7)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Cerebellar atrophy Likely pathogenic; Pathogenic rs778470143 RCV000853067
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cerebellar atrophy, visual impairment, and psychomotor retardation; Likely pathogenic; Pathogenic rs201271494, rs370952454, rs762503667, rs1258131141, rs757025272, rs372717647, rs772560574, rs1290319110, rs869320624, rs879253819, rs869320625, rs2536637199, rs2536775591, rs751484278, rs1572001567 RCV005232268
RCV002492118
RCV001775308
RCV001781033
RCV005419231
View all (10 more)
★★★★★
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Congenital anomaly of kidney and urinary tract Likely pathogenic; Pathogenic rs869320624 RCV000416596
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
EMC1-related disorder Likely pathogenic; Pathogenic rs869320625, rs1558096194 RCV000845002
RCV000845001
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Show/Hide Unknown Diseases (15)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Autosomal recessive retinitis pigmentosa Conflicting classifications of pathogenicity ClinVar
Disgenet
★★★★★
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
CAKUT — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CEREBELLAR ATROPHY, VISUAL IMPAIRMENT, AND PSYCHOMOTOR RETARDATION — CTD, Disgenet, HPO
CTD, Disgenet, HPO
CTD, Disgenet, HPO
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CEREBELLAR ATROPHY, VISUAL IMPAIRMENT, AND PSYCHOMOTOR RETARDATION, — ClinVar, GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (39)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Anus, Imperforate Imperforate anus CLINVAR_DG 26942288, 27657687
★★★★★
★☆☆☆☆
Found in Text Mining only
Anus, Imperforate Imperforate anus HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Aphasia Aphasia Pubtator 26942288, 32869858 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Astigmatism Astigmatism HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Atrophy of corpus callosum Atrophy Of Corpus Callosum HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Cakut Congenital anomalies of kidney and urinary tract CLINVAR_DG 27657687
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Central visual impairment Central Visual Impairment HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Cerebellar atrophy Cerebellar atrophy BEFREE 26942288, 29271071
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cerebellar atrophy Cerebellar atrophy CLINVAR_DG 26942288, 27657687
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cerebellar atrophy Cerebellar atrophy HPO_DG
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)