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 categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
162
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (7)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cerebellar atrophy Likely pathogenic; Pathogenic rs778470143 RCV000853067
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
RCV005863556
RCV005361899
RCV002472024
RCV000210401
RCV000416428
RCV000210379
RCV003387626
RCV004577153
RCV003225945
RCV000986271
Congenital anomaly of kidney and urinary tract Likely pathogenic; Pathogenic rs869320624 RCV000416596
EMC1-related disorder Likely pathogenic; Pathogenic rs869320625, rs1558096194 RCV000845002
RCV000845001
Show/Hide Unknown Diseases (9)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Autosomal recessive retinitis pigmentosa Conflicting classifications of pathogenicity rs869320623 RCV001257808
Familial cancer of breast Likely benign rs753186319, rs762792538 RCV005925497
RCV005871047
Hepatocellular carcinoma Benign rs2073106 RCV005914338
Lung cancer Conflicting classifications of pathogenicity rs144675935 RCV005910966
Show/Hide Text Mining Associations (12)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Aphasia Associate 26942288, 32869858
Cerebellar Diseases Associate 26942288, 29271071, 32869858
Developmental Disabilities Associate 26942288, 29271071
Epilepsy Associate 29271071
Epilepsy Complex Partial Associate 29271071
Heredodegenerative Disorders Nervous System Associate 32869858
Intellectual Disability Associate 26942288
Muscle Hypotonia Associate 26942288
Retinal Dystrophies Associate 23105016
Scoliosis Associate 26942288, 32869858