EMC1 (ER membrane protein complex subunit 1)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
23065
Gene name Gene Name - the full gene name approved by the HGNC.
ER membrane protein complex subunit 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
EMC1
Synonyms (NCBI Gene) Gene synonyms aliases
CAVIPMR, KIAA0090
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1p36.13
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
616846 28957 ENSG00000127463
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (2)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Congenital anomalies of kidney and urinary tract Congenital anomaly of kidney and urinary tract rs869320624 N/A
Obesity obesity rs148538980 N/A
Show/Hide Unknown Diseases (5)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation cerebellar atrophy, visual impairment, and psychomotor retardation; N/A N/A GenCC
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome N/A N/A GenCC
Microcephaly microcephaly N/A N/A ClinVar
retinal dystrophy Retinal dystrophy N/A N/A ClinVar
Show/Hide Text Mining Associations (12)
Associations from Text Mining Disease 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