ERLIN1 - ER lipid raft associated 1 Gene

中文名称：ER 脂筏相关 1

种属: Homo sapiens

同用名: KE04; KEO4; SPFH1; SPG62; Erlin-1; C10orf69

基因 ID: 10613 | 基因类型: protein coding

关于 ERLIN1

Cytogenetic location: 10q24.31 Genomic coordinates (GRCh38): 10:100,150,094-100,186,029 (from NCBI)

This gene has 3 transcripts (splice variants), 196 orthologues, 1 paralogue and is associated with 2 phenotypes. Ubiquitous expression in bone marrow (RPKM 24.9), liver (RPKM 24.8) and 25 other tissues.

功能概要

该基因编码的蛋白质是介导内质网中肌醇 1,4,5-三磷酸受体降解的蛋白质复合物的一部分。编码的蛋白质还结合胆固醇并调节 SREBP 信号通路，从而促进细胞胆固醇稳态。该基因的缺陷与痉挛性截瘫 62 有关。[RefSeq 提供，2016 年 12 月]

The protein encoded by this gene is part of a protein complex that mediates degradation of inositol 1,4,5-trisphosphate receptors in the endoplasmic reticulum. The encoded protein also binds Cholesterol and regulates the SREBP signaling pathway, which promotes cellular Cholesterol homeostasis. Defects in this gene have been associated with spastic paraplegia 62. [provided by RefSeq, Dec 2016]

ERLIN1 基因产物(8)

mRNA	Protein	Name
NM_001100626.2	NP_001094096.1	erlin-1 isoform a
NM_001347856.2	NP_001334785.1	erlin-1 isoform b
NM_001347857.2	NP_001334786.1	erlin-1 isoform a
NM_001347858.2	NP_001334787.1	erlin-1 isoform c
NM_001347859.2	NP_001334788.1	erlin-1 isoform a
NM_001347860.2	NP_001334789.1	erlin-1 isoform a
NM_001347861.2	NP_001334790.1	erlin-1 isoform a
NM_006459.4	NP_006450.2	erlin-1 isoform a

ERLIN1 蛋白结构

Band_7

0
100
200
300
348 a.a.

蛋白主名

其他名称

erlin-1

Band_7 23-211 Keo4 (Interim) similar to C.elegans protein C42C1.9

ERLIN1 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
Intra	ERLIN1	O75477	b2rde6_human	Homo sapiens	B2RDE6	Validated Y2H	25416956
Intra	ERLIN1	O75477	TMEM199	Homo sapiens	Q8N511	Validated Y2H	25416956
Intra	ERLIN1	O75477	TMEM199	Homo sapiens	Q8N511	Y2H Array	25416956
Intra	ERLIN1	O75477	C6orf120	Homo sapiens	Q7Z4R8	Anti Tag CoIP	33961781
Intra	ERLIN1	O75477	C6orf120	Homo sapiens	Q7Z4R8	Anti Tag CoIP	28514442
Intra	ERLIN1	O75477	FA2H	Homo sapiens	Q7L5A8	Validated Y2H	32296183
Intra	ERLIN1	O75477	RBFA	Homo sapiens	Q8N0V3	Validated Y2H	32296183
Intra	ERLIN1	O75477	AGR3	Homo sapiens	Q8TD06	Validated Y2H	32296183
Intra	ERLIN1	O75477	ERLIN2	Homo sapiens	O94905	Crosslink	30021884
Intra	ERLIN1	O75477	ERLIN2	Homo sapiens	O94905	Anti Tag CoIP	33961781
Intra	ERLIN1	O75477	BNIP2	Homo sapiens	Q12982	Validated Y2H	32296183
Intra	ERLIN1	O75477	SEC23A	Homo sapiens	Q15436	Validated Y2H	32296183
Intra	ERLIN1	O75477	SEC22A	Homo sapiens	Q96IW7	Validated Y2H	32296183
Intra	ERLIN1	O75477	SYVN1	Homo sapiens	Q86TM6	Anti Tag CoIP	21343306

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

Spastic Paraplegia 62, Autosomal Recessive

SPG62	Hereditary Spastic Paraplegia 62
Autosomal Recessive Spastic Paraplegia Type 62	Spastic Paraplegia 62
Autosomal Recessive Spastic Paraplegia 62	Paraplegia, Spastic, Type 62

Juvenile Amyotrophic Lateral Sclerosis

Jals	Juvenile Charcot Disease
Juvenile Lou Gehrig Disease	Amyotrophic Lateral Sclerosis, Juvenile

Hereditary Spastic Paraplegia

Familial Spastic Paraplegia	Hereditary Spastic Paraparesis
Strumpell-Lorrain Disease	Familial Spastic Paraparesis
Hsp	Spg
Strümpell-Lorrain Disease	Spastic Paraplegia, Hereditary
French Settlement Disease	Strumpell-Lorrain Syndrome
Fsp	Spastic Paraplegia, Familial
Spastic Paraplegia Hereditary	Spastic Paraplegia 3, Autosomal Dominant
Spastic Paraparesis	Hereditary Spastic Paralysis
Familial Spastic Paralysis	Hereditary Spastic Ataxia

Paraplegia

Paraplegia, Lower

Severe Or Complete Loss Of Motor Function In The Lower Extremities And Lower Portions Of The Trunk

Spastic Paraplegia 18, Autosomal Recessive

SPG18	Idmdc
Hereditary Spastic Paraplegia 18	Intellectual Disability, Motor Dysfunction, And Joint Contractures
Autosomal Recessive Spastic Paraplegia Type 18	Autosomal Recessive Spastic Paraplegia 18
Intellectual Disability, Motor Dysfunction And Joint Contractures	Spastic Paraplegia 18
Intellectual Disability Motor Dysfunction And Joint Contractures	Paraplegia, Spastic, Type 18

Spastic Ataxia 3

Spastic Paraplegia 45, Autosomal Recessive

SPG45	Hereditary Spastic Paraplegia 45
Autosomal Recessive Spastic Paraplegia Type 45	Autosomal Recessive Spastic Paraplegia Type 65
Spg65	Autosomal Recessive Spastic Paraplegia 45
Paraplegia, Spastic, Type 45, Autosomal Recessive

Spastic Ataxia 2

Spastic Paraplegia 80, Autosomal Dominant

SPG80	Hereditary Spastic Paraplegia 80
Spastic Paraplegia 80 Autosomal Dominant	Doid:0112341

Spastic Paraplegia 9b, Autosomal Recessive

SPG9B	Autosomal Recessive Complex Spastic Paraplegia Type 9b
Hereditary Spastic Paraplegia 9b	Autosomal Recessive Spastic Paraplegia 9b
Autosomal Recessive Spastic Paraplegia Type 9b	Ar-Spg9b

Cystic Fibrosis

Mucoviscidosis	CF
Pseudomonas Aeruginosa, Susceptibility To Chronic Infection By, In Cystic Fibrosis	Pseudomonas Aeruginosa Chronic Infection By, In Cystic Fibrosis
Cystic Fibrosis Lung Disease, Modifier Of	Cystic Fibrosis Of Pancreas
Fibrocystic Disease Of Pancreas	Cf - [Cystic Fibrosis]
Cystic Fibrosis Nos	Fibrocystic Disease
Fibrocystic Disease Of The Pancreas	Mucoviscidosis Of Pancreas
Nonproliferative Fibrocystic Disease	Pancreatic Cystic Fibrosis

Spastic Paraplegia 64, Autosomal Recessive

SPG64	Hereditary Spastic Paraplegia 64
Autosomal Recessive Spastic Paraplegia Type 64	Autosomal Recessive Spastic Paraplegia 64
Paraplegia, Spastic, Type 64, Autosomal Recessive

Spastic Paraplegia 82, Autosomal Recessive

SPG82	Hereditary Spastic Paraplegia 82
Spastic Paraplegia 82 Autosomal Recessive	Doid:0112343

Spastic Paraplegia 81, Autosomal Recessive

SPG81	Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Autosomal Recessive Complex Spg Due To Kennedy Pathway Dysfunction	Hereditary Spastic Paraplegia 81
Spastic Paraplegia 81 Autosomal Recessive	Doid:0112349

Motor Neuron Disease

Anterior Horn Cell Disease	Motor Neuron Diseases
Mnd - [Motor Neurone Disease]	Lou Gehrig Disease
Creeping Palsy	Creeping Paralysis
Bulbar Motor Neuron Disease	Bulbar Syndrome
Anterior Horn Cell Disorder	Hereditary Motor Neuron Disease

Gillespie Syndrome

GLSP	Aniridia, Cerebellar Ataxia And Mental Deficiency
Aniridia Cerebellar Ataxia Mental Deficiency	Aniridia, Cerebellar Ataxia, And Mental Retardation
Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome	Aniridia-Cerebellar Ataxia-Intellectual Disability
Aniridia-Cerebellar Ataxia-Mental Deficiency	Partial Aniridia-Cerebellar Ataxia-Oligophrenia
Aniridia, Cerebellar Ataxia, And Intellectual Disability

Spastic Ataxia

Spax	Ataxia, Spastic

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-RS04501	ERLIN1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Rattus norvegicus	ERLIN1	RGD	RGD:1307058
Macaca mulatta	ERLIN1	VGNC	VGNC:103813
Canis familiaris	ERLIN1	VGNC	VGNC:40459
Bos taurus	ERLIN1	VGNC	VGNC:28588
Felis catus	ERLIN1	VGNC	VGNC:61949
Mus musculus	ERLIN1	MGD	MGI:2387613

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）
Copyright © 2013-2024 MedChemExpress. All Rights Reserved.

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）

ERLIN1 - ER lipid raft associated 1 Gene

关于 ERLIN1

功能概要

ERLIN1 基因产物(8)

ERLIN1 蛋白结构

ERLIN1 蛋白互作信息

关联疾病

直系同源

热门区域

A

B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z

姓名
邮箱 *

Sorry, but the email address you supplied was invalid.

ERLIN1 - ER lipid raft associated 1 Gene

关于 ERLIN1

功能概要

ERLIN1 基因产物(8)

ERLIN1 蛋白结构

ERLIN1 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