EMC1 - ER membrane protein complex subunit 1 Gene

中文名称：ER 膜蛋白复合亚基 1

种属: Homo sapiens

同用名: CAVIPMR; KIAA0090

基因 ID: 23065 | 基因类型: protein coding

关于 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.

功能概要

该基因编码单程 I 型跨膜蛋白，它是内质网膜蛋白复合物 (EMC) 的一个亚基。已为该基因发现编码不同亚型的多个可变剪接转录物变体。[RefSeq 提供，2012 年 9 月]

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 基因产物(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

基因本体论

分子功能
生物过程
细胞组分

分子功能 GO 注释	逻辑证据	参考文献	来源
contributes to membrane insertase activity	IMP IMP: 通过突变表型推断	29809151	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	32353859	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in protein insertion into ER membrane by stop-transfer membrane-anchor sequence	IDA IDA: 通过直接分析推断	29242231	GOA
involved in protein insertion into ER membrane by stop-transfer membrane-anchor sequence	IMP IMP: 通过突变表型推断	29809151	GOA
involved in tail-anchored membrane protein insertion into ER membrane	IDA IDA: 通过直接分析推断	29242231	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
part of EMC complex	IDA IDA: 通过直接分析推断	22119785	GOA
part of EMC complex	IPI IPI: 通过物理相互作用推断	32439656	GOA
located in endoplasmic reticulum membrane	IDA IDA: 通过直接分析推断	22119785	GOA
located in membrane	IDA IDA: 通过直接分析推断	22119785	GOA
part of protein-containing complex	IDA IDA: 通过直接分析推断	28246125	GOA

EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

EMC1 蛋白结构

PQQ_2

DUF1620

0
200
400
600
800
993 a.a.

蛋白主名

其他名称

ER membrane protein complex subunit 1

EMC1 蛋白互作信息

分类	蛋白名称	蛋白编号	互作蛋白	互作蛋白种属	互作蛋白编号	实验方法	参考文献
种属间	EMC1	Q8N766	ns8_sars2	SARS-CoV-2	P0DTC8	Y2H Array	36217030

种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称

别名

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

疾病名称	别名
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.	产品名	作用方式	纯度	是否罕见病
HY-RS04335	EMC1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 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

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MedChemExpress (MCE) 只为有资质的科研机构、医药企业基于科学研究或药证申报的用途提供医药研发服务，不为任何个人或者非科研性质的、非用于药证申报使用等其他用途提供服务。

站点地图隐私声明

沪ICP备15051369号-4

上海工商

沪公网安备31011502019417

沪(浦)应急管危经许[2021]201709(QFYS)

营业执照（三证合一）

EMC1 - ER membrane protein complex subunit 1 Gene

关于 EMC1

功能概要

EMC1 基因产物(6)

EMC1 蛋白结构

EMC1 蛋白互作信息

关联疾病

直系同源

热门区域

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EMC1 - ER membrane protein complex subunit 1 Gene

关于 EMC1

功能概要

EMC1 基因产物(6)

EMC1 蛋白结构

EMC1 蛋白互作信息

关联疾病

相关产品

直系同源

热门区域

A

B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z