EMC10 - ER membrane protein complex subunit 10 Gene

Also Known as HSM1; HSS1; NEDDFAS; C19orf63

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 284361

About EMC10

Cytogenetic location: 19q13.33 Genomic coordinates (GRCh38): 19:50,476,507-50,490,871 (from NCBI)

This gene has 8 transcripts (splice variants), 182 orthologues and is associated with 3 phenotypes. Ubiquitous expression in kidney (RPKM 28.0), testis (RPKM 24.5) and 25 other tissues.

Summary

Contributes to membrane insertase activity. Involved in positive regulation of angiogenesis; positive regulation of endothelial cell proliferation; and protein insertion into ER membrane. Located in extracellular region. Is integral component of endoplasmic reticulum membrane. Part of EMC complex. [provided by Alliance of Genome Resources, Apr 2022]

EMC10 Products (2)

mRNA Protein Name
NM_175063.6 NP_778233.4 ER membrane protein complex subunit 10 isoform 1 precursor
NM_206538.4 NP_996261.1 ER membrane protein complex subunit 10 isoform 2 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
Biological Process GO Annotation Evidence References Source
involved in positive regulation of angiogenesis IMP
IMP: Inferred from mutant phenotype
28931551 GOA
involved in positive regulation of endothelial cell proliferation IDA
IDA: Inferred from direct assay
28931551 GOA
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
32439656 GOA
located in extracellular region IDA
IDA: Inferred from direct assay
28931551 GOA
located in membrane IDA
IDA: Inferred from direct assay
22119785 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
Protein Preferred Names Protein Names

ER membrane protein complex subunit 10

  • UPF0510 protein INM02

Related Diseases

Diseases Alias
Neurodevelopmental Disorder With Dysmorphic Facies And Variable Seizures

  • NEDDFAS
Non-Specific Syndromic Intellectual Disability

  • Complex Neurodevelopmental Disorder
Myocardial Infarction

  • Heart Attack

  • Myocardial Infarction, Susceptibility To

  • Myocardial Infarction 1

  • Myocardial Infarction, Protection Against

  • Myocardial Infarction, Decreased Susceptibility To

  • Myocardial Infarction, Decreased

  • Myocardial Infarct

  • MCI1

  • Premature Myocardial Infarction

  • Myocardial Infarction, Susceptibility To, Type 1
Atrial Septal Defect 1

  • ASD1

  • Atrial Heart Septal Defect 1

  • Asd
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 (1)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS04336 EMC10 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Felis catus EMC10 VGNC VGNC:61832
Rattus norvegicus EMC10 RGD RGD:1303214
Bos taurus EMC10 VGNC VGNC:28462
Mus musculus EMC10 MGD MGI:1916933
Canis familiaris EMC10 VGNC VGNC:40332
Macaca mulatta EMC10 VGNC VGNC:103812
Others EMC10 NCBI