ICA1 - islet cell autoantigen 1 Gene

中文名称：胰岛细胞自身抗原 1

种属: Homo sapiens

同用名: ICA69; ICAp69

基因 ID: 3382 | 基因类型: protein coding

关于 ICA1

Cytogenetic location: 7p21.3 Genomic coordinates (GRCh38): 7:8,113,184-8,262,555 (from NCBI)

This gene has 19 transcripts (splice variants), 213 orthologues and 1 paralogue. Ubiquitous expression in testis (RPKM 10.6), heart (RPKM 7.8) and 23 other tissues.

功能概要

该基因编码一种具有 arfaptin 同源结构域的蛋白质，该结构域既存在于细胞质中，也存在于高尔基复合体和未成熟分泌颗粒上的膜结合形式。这种蛋白质被认为是胰岛素依赖性糖尿病和原发性干燥综合征的自身抗原。已发现该基因编码两种不同亚型的几种转录变体。[RefSeq 提供，2013 年 2 月]

This gene encodes a protein with an arfaptin homology domain that is found both in the cytosol and as membrane-bound form on the Golgi complex and immature secretory granules. This protein is believed to be an autoantigen in insulin-dependent diabetes mellitus and primary Sjogren's syndrome. Several transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Feb 2013]

ICA1 基因产物(23)

mRNA	Protein	Name
NM_001136020.3	NP_001129492.1	islet cell autoantigen 1 isoform a
NM_001276478.2	NP_001263407.1	islet cell autoantigen 1 isoform b
NM_001350819.2	NP_001337748.1	islet cell autoantigen 1 isoform a
NM_001350820.2	NP_001337749.1	islet cell autoantigen 1 isoform a
NM_001350821.2	NP_001337750.1	islet cell autoantigen 1 isoform b
NM_001350823.2	NP_001337752.1	islet cell autoantigen 1 isoform b
NM_001350824.2	NP_001337753.1	islet cell autoantigen 1 isoform b
NM_001350825.2	NP_001337754.1	islet cell autoantigen 1 isoform b
NM_001350826.2	NP_001337755.1	islet cell autoantigen 1 isoform c
NM_001350827.2	NP_001337756.1	islet cell autoantigen 1 isoform c
NM_001350828.2	NP_001337757.1	islet cell autoantigen 1 isoform d
NM_001350829.2	NP_001337758.1	islet cell autoantigen 1 isoform d
NM_001350830.2	NP_001337759.1	islet cell autoantigen 1 isoform e
NM_001350831.2	NP_001337760.1	islet cell autoantigen 1 isoform f
NM_001350832.2	NP_001337761.1	islet cell autoantigen 1 isoform f
NM_001350833.2	NP_001337762.1	islet cell autoantigen 1 isoform f
NM_001350834.2	NP_001337763.1	islet cell autoantigen 1 isoform g
NM_001350835.2	NP_001337764.1	islet cell autoantigen 1 isoform h
NM_001350836.2	NP_001337765.1	islet cell autoantigen 1 isoform h
NM_001350837.2	NP_001337766.1	islet cell autoantigen 1 isoform h
NM_001350838.2	NP_001337767.1	islet cell autoantigen 1 isoform i
NM_004968.4	NP_004959.2	islet cell autoantigen 1 isoform a
NM_022307.3	NP_071682.1	islet cell autoantigen 1 isoform a

基因本体论

分子功能
细胞组分

分子功能 GO 注释	逻辑证据	参考文献	来源
enables membrane curvature sensor activity	IDA IDA: 通过直接分析推断	29768204	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	25416956	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in Golgi membrane	IDA IDA: 通过直接分析推断	12682071	GOA
located in secretory granule membrane	IDA IDA: 通过直接分析推断	12682071	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

ICA1 蛋白结构

Arfaptin

ICA69

0
100
200
300
400
483 a.a.

蛋白主名

其他名称

islet cell autoantigen 1

69 kDa islet cell autoantigen

ICA1 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
种属内	ICA1	Q05084	CCDC28A	Homo sapiens	Q7Z6N9	Validated Y2H	25416956
种属内	ICA1	Q05084	MBD3	Homo sapiens	O95983	Y2H Prey Pooling	25416956
种属内	ICA1	Q05084	RAB2B	Homo sapiens	Q8WUD1	Validated Y2H	25416956
种属内	ICA1	Q05084	RAB2B	Homo sapiens	Q8WUD1	Y2H Prey Pooling	25416956
种属内	ICA1	Q05084	RAB2B	Homo sapiens	Q8WUD1	Y2H Array	25416956
种属内	ICA1	Q05084	RAB2A	Homo sapiens	P61019	Validated Y2H	25416956

种属间: 跨种属相互作用 种属内: 同种属相互作用

重组 ICA1 蛋白

目录号	产品名	蛋白编号	纯度
HY-P72274	Islet cell autoantigen 1/ICA1, Human (P.pastoris, His)	Q05084-3 (M1-A482)	≥95%

关联疾病

疾病名称

别名

Insulinoma

Islet Cell Adenoma	Insulin-Producing Tumor Of Islet Cells
Adenoma Islet Cell	Islet Cell Tumor
Experimental Organism Islet Cell Adenoma Neoplasm

Diabetes Mellitus

Diabetes

Type 1 Diabetes Mellitus

Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus Type 1
IDDM	Type 1 Diabetes
Insulin-Dependent Diabetes Mellitus	T1D
Juvenile-Onset Diabetes	Jod
Diabetes Mellitus, Type 1	Diabetes Mellitus, Insulin-Dependent-1
Type I Diabetes Mellitus	Autoimmune Diabetes
Juvenile Diabetes	Juvenile-Onset Diabetes Mellitus
Diabetes, Insulin Dependent	Insulin-Dependent Diabetes Mellitus-1
Diabetes Mellitus Insulin-Dependent	Diabetes Autoimmune
Diabetes Mellitus, Insulin-Dependent, Susceptibility To	Diabetes Mellitus, Type 1, Susceptibility To
Diabetes Type 1	Type I Diabetes
Diabetes, Autoimmune	T1dm - [Type 1 Diabetes Mellitus]
Iddm - [Insulin Dependent Diabetes Mellitus]	Type 1 Iddm
Juvenile Diabetes Mellitus Without Compications	Idiopathic Insulin-Dependent Diabetes Mellitus Without Complications
Juvenile-Onset Diabetes Mellitus Without Compications	Ketosis-Prone Diabetes Mellitus Without Compications
Juvenile-Onset-Type Diabetes Mellitus Without Compications

Cataract 3, Multiple Types

Cataract 3 Multiple Types	CTRCT3
Cca2	Cataract, Congenital, Cerulean Type, 2
Cataract 3, Multiple Types, With Or Without Microcornea	Cataract 3 Multiple Types With Or Without Microcornea
Congenital Cerulean Type Cataract 2	Congenital Cataract Blue Dot Type 2
Congenital Cataract Cerulean Type 2	Cspc
Sutural Cataract With Punctate And Cerulean Opacities

Type 1 Diabetes Mellitus 5

Diabetes Mellitus, Insulin-Dependent, 5	Latent Autoimmune Diabetes In Adults
IDDM5	Insulin-Dependent Diabetes Mellitus 5
T1D5	Lada
Type 1.5 Diabetes	Diabetes Mellitus, Insulin-Dependent, Type 5

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-RS06511	ICA1 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	ICA1	RGD	RGD:621465
Mus musculus	ICA1	MGD	MGI:96391
Canis familiaris	ICA1	VGNC	VGNC:41854
Macaca mulatta	ICA1	VGNC	VGNC:73551
Felis catus	ICA1	VGNC	VGNC:67684
Bos taurus	ICA1	VGNC	VGNC:30023
Others	ICA1	NCBI

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