2. Gene
  3. EMC1 - ER membrane protein complex subunit 1 Gene

EMC1 - ER membrane protein complex subunit 1 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as CAVIPMR; KIAA0090

Gene ID: 23065 | Gene type: protein coding

About EMC1

Cytogenetic location: 1p36.13 Genomic coordinates (GRCh38): 1:19,215,660-19,251,524 (from NCBI)

This gene has 27 transcripts (splice variants), 210 orthologues and is associated with 6 phenotypes. Ubiquitous expression in placenta (RPKM 10.5), brain (RPKM 9.0) and 25 other tissues.

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. [provided by RefSeq, Sep 2012]

EMC1 Products(6)

mRNA Protein Name
NM_001271427.2 NP_001258356.1 ER membrane protein complex subunit 1 isoform 2 precursor
NM_001271428.2 NP_001258357.1 ER membrane protein complex subunit 1 isoform 3 precursor
NM_001271429.2 NP_001258358.1 ER membrane protein complex subunit 1 isoform 4 precursor
NM_001375820.1 NP_001362749.1 ER membrane protein complex subunit 1 isoform 5 precursor
NM_001375821.1 NP_001362750.1 ER membrane protein complex subunit 1 isoform 6 precursor
NM_015047.3 NP_055862.1 ER membrane protein complex subunit 1 isoform 1 precursor
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
contributes to membrane insertase activity IMP
IMP: Inferred from mutant phenotype
29809151 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
32353859 GOA
Biological Process GO Annotation Evidence Reference Source
involved in protein insertion into ER membrane by stop-transfer membrane-anchor sequence IDA
IDA: Inferred from direct assay
29242231 GOA
involved in protein insertion into ER membrane by stop-transfer membrane-anchor sequence IMP
IMP: Inferred from mutant phenotype
29809151 GOA
involved in tail-anchored membrane protein insertion into ER membrane IDA
IDA: Inferred from direct assay
29242231 GOA
Cellular Component GO Annotation Evidence Reference Source
part of EMC complex IDA
IDA: Inferred from direct assay
22119785 GOA
part of EMC complex IPI
IPI: Inferred from physical interaction
32439656 GOA
located in endoplasmic reticulum membrane IDA
IDA: Inferred from direct assay
22119785 GOA
located in membrane IDA
IDA: Inferred from direct assay
22119785 GOA
part of protein-containing complex IDA
IDA: Inferred from direct assay
28246125 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

EMC1 Protein Structure

PQQ_2

PQQ_2: PQQ-like domain (60 - 218)

DUF1620

DUF1620: Protein of unknown function (DUF1620) (787 - 992)

  • 0
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  • 800
  • 993 a.a.
Protein Preferred Names Protein Names

ER membrane protein complex subunit 1

EMC1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Reference
Cross
EMC1 Q8N766 ns8_sars2 SARS-CoV-2 P0DTC8
Y2H Array
36217030
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation

CAVIPMR

Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome

Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation

Atrophy, Cerebellar, Visual Impairment, Psychomotor Retardation
Retinitis Pigmentosa

RP

Rod-Cone Dystrophy

Autosomal Recessive Retinitis Pigmentosa

Non-Syndromic Retinitis Pigmentosa

Pericentral Pigmentary Retinopathy

Pigmentary Retinopathy

Tapetoretinal Degeneration

Rcd

Retinitis Pigmentosa Autosomal Recessive

ARRP

Retinitis Pigmentosa, Autosomal Recessive

Retinitis Pigmentosa 1
Cakut

Renal Or Urinary Tract Malformation

Congenital Anomalies Of Kidney And Urinary Tract

Congenital Anomaly Of Kidney And Urinary Tract

Congenital Anomalies Of The Kidney And Urinary Tract

Kidney And Urinary Tract, Anomalies, Congenital

Renal Hypodysplasia, Nonsyndromic, 1
Treacher Collins Syndrome 3

TCS3

Mandibulofacial Dysostosis, Treacher Collins Type, Autosomal Recessive

Mandibulofacial Dysostosis Treacher Collins Type Autosomal Recessive
Lipoid Proteinosis Of Urbach And Wiethe

Lipoid Proteinosis

Urbach-Wiethe Disease

Hyalinosis Cutis Et Mucosae

Lipid Proteinosis

Lipoproteinosis

Urbach Wiethe Disease

Lipoglycoproteinosis

Lipoidosis Cutis Et Mucosae

Lipoidproteinosis

Urbach-Wiethe Lipoid Proteinosis

Urbach-Wiethe Syndrome

LIP

Proteinosis Lipoid
Body Mass Index Quantitative Trait Locus 11

OBESITY

Obesity, Susceptibility To

Leanness, Inherited

Obesity, Susceptibility To, Bmiq11

Obesity, Mild, Early-Onset

Obesity, Association With

Obesity, Early-Onset, Susceptibility To

Obesity, Severe

Obesity, Severe, And Type Ii Diabetes

Obesity, Late-Onset

Obesity , Susceptibility To

BMIQ11

Obesity Bmiq11

Obesity, Early-Onset

Simple Obesity Nos

Excess Fat

Obesity, Not Elsewhere Classified, Body Mass Index Not Elsewhere Classified

Adiposis
Scoliosis
Lissencephaly 6

Lis6
Leukodystrophy, Hypomyelinating, 11

Hypomyelinating Leukodystrophy 11

HLD11

4h Leukodystrophy 3

Leukodystrophy, Hypomyelinating, Type 11
Hypotonia
Autism Spectrum Disorder

Asd

Autism Spectrum Disorders

Autistic Continuum

Pervasive Developmental Disorder

Pervasive Development Disorder

Autistic Behavior

Autistic Disorder

Autistic

Autistic Disorder Of Childhood Onset

Infantile Autism

Childhood Autism

Kanner Syndrome

Pervasive Developmental Delay Nos

Pervasive Developmental Disorder, Not Otherwise Specified
Fundus Dystrophy

Retinal Dystrophy

Retinal Dystrophies

Dystrophy, Retinal
Cone-Rod Dystrophy 2

Cone-Rod Dystrophy

CORD2

Cone-Rod Retinal Dystrophy

Rcrd2

Cone-Rod Retinal Dystrophy 2

Crd2

Cord

Crd

Retinal Cone-Rod Dystrophy

Cone-Rod Retinal Dystrophy-2

Retinal Cone-Rod Dystrophy 2

Tapetoretinal Degeneration

Cone-Rod Degeneration

Cone Rod Dystrophy

Dystrophy, Cone-Rod

Dystrophy, Cone-Rod, Type 2

Retinitis Pigmentosa

Retinitis Pigmentosa 2

Progressive Cone-Rod Dystrophy
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS04335 EMC1 Human Pre-designed siRNA Set A Pre-designed Sets / Unkown

Orthologs Information

Species Symbol Source ID
Felis catus EMC1 VGNC VGNC:61831
Bos taurus EMC1 VGNC VGNC:28461
Rattus norvegicus EMC1 RGD RGD:1310427
Mus musculus EMC1 MGD MGI:2443696
Macaca mulatta EMC1 VGNC VGNC:72134
Canis familiaris EMC1 VGNC VGNC:40331
Others EMC1 NCBI