EMC1 - ER membrane protein complex subunit 1 Gene

Also Known as CAVIPMR; KIAA0090

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 23065

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 References 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 References 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 References 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
  • 200
  • 400
  • 600
  • 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 References
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

Pre-clinical Phase

Bioactive Molecules (3)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS04335 EMC1 Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS20273 Emc1 Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS26781 Emc1 Rat Pre-designed siRNA Set A Pre-designed Set / 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