EMC1 - ER membrane protein complex subunit 1 Gene

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

EMC1 Protein Structure

PQQ_2

DUF1620

0
200
400
600
800
993 a.a.

Protein Preferred Names

Protein Names

ER membrane protein complex subunit 1

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

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS04335	EMC1 Human Pre-designed siRNA Set A		/	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