EMC10 - ER membrane protein complex subunit 10 Gene

Homo sapiens

Also known as HSM1; HSS1; NEDDFAS; C19orf63

Gene ID: 284361 | Gene type: protein coding

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	Reference	Source
contributes to membrane insertase activity	IMP IMP: Inferred from mutant phenotype	29809151	GOA

Biological Process GO Annotation	Evidence	Reference	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	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	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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS04336	EMC10 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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