ITSN1 - intersectin 1 Gene

中文名称：相交 1

种属: Homo sapiens

同用名: ITSN; SH3D1A; SH3P17

基因 ID: 6453 | 基因类型: protein coding

关于 ITSN1

Cytogenetic location: 21q22.11 Genomic coordinates (GRCh38): 21:33,642,501-33,899,861 (from NCBI)

This gene has 32 transcripts (splice variants), 226 orthologues, 10 paralogues and is associated with 1 phenotype. Ubiquitous expression in fat (RPKM 8.8), brain (RPKM 4.1) and 24 other tissues.

功能概要

由该基因编码的蛋白质是一种细胞质膜相关蛋白，可间接协调内吞膜运输与肌动蛋白组装机制。此外，编码的蛋白质可以调节网格蛋白包被小泡的形成，并可能参与突触小泡循环。这种蛋白质已被证明与动力蛋白、CDC42、SNAP23、SNAP25、SPIN90、EPS15、EPN1、EPN2 和 STN2 相互作用。已发现该基因编码不同亚型的多个转录变体，但迄今为止仅表征了其中两个的全长性质。[RefSeq 提供，2008 年 7 月]

The protein encoded by this gene is a cytoplasmic membrane-associated protein that indirectly coordinates endocytic membrane traffic with the actin assembly machinery. In addition, the encoded protein may regulate the formation of clathrin-coated vesicles and could be involved in synaptic vesicle recycling. This protein has been shown to interact with Dynamin, CDC42, SNAP23, SNAP25, SPIN90, EPS15, EPN1, EPN2, and STN2. Multiple transcript variants encoding different isoforms have been found for this gene, but the full-length nature of only two of them have been characterized so far. [provided by RefSeq, Jul 2008]

ITSN1 基因产物(7)

mRNA	Protein	Name
NM_001001132.2	NP_001001132.1	intersectin-1 isoform ITSN-s
NM_001331008.2	NP_001317937.1	intersectin-1 isoform 3
NM_001331009.2	NP_001317938.1	intersectin-1 isoform 4
NM_001331010.2	NP_001317939.1	intersectin-1 isoform 5
NM_001331011.2	NP_001317940.1	intersectin-1 isoform 6
NM_001331012.2	NP_001317941.1	intersectin-1 isoform 7
NM_003024.3	NP_003015.2	intersectin-1 isoform ITSN-l

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
enables molecular adaptor activity	IDA IDA: 通过直接分析推断	20946875	GOA
enables proline-rich region binding	IPI IPI: 通过物理相互作用推断	20946875	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	10064583	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in protein localization	IMP IMP: 通过突变表型推断	29887380	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
colocalizes with clathrin-coated pit	IDA IDA: 通过直接分析推断	29887380	GOA
located in clathrin-coated pit	IDA IDA: 通过直接分析推断	20946875	GOA
located in cytoplasm	IDA IDA: 通过直接分析推断	29599122	GOA
located in nuclear envelope	IDA IDA: 通过直接分析推断	29599122	GOA
located in plasma membrane	IDA IDA: 通过直接分析推断	20946875	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

ITSN1 蛋白结构

EF-hand_4

SH3_9

RhoGEF

0
300
600
900
1200
1500
1721 a.a.

蛋白主名

其他名称

intersectin-1

SH3 domain-containing protein 1A

ITSN1 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	ITSN1	Q15811	EPS15L1	Homo sapiens	Q9UBC2	Y2H Fragment Pooling	35914814
Intra	ITSN1	Q15811	EPS15L1	Homo sapiens	Q9UBC2	Anti Tag CoIP	35271311
Intra	ITSN1	Q15811	EPS15L1	Homo sapiens	Q9UBC2	Anti Tag CoIP	32203420
Intra	ITSN1	Q15811	LMO4	Homo sapiens	P61968	Y2H	15231748
Intra	ITSN1	Q15811	LMO4	Homo sapiens	P61968	Y2H Fragment Pooling	35914814
Intra	ITSN1	Q15811	EPS15	Homo sapiens	P42566	Anti Tag CoIP	32203420
Intra	ITSN1	Q15811	AP2B1	Homo sapiens	P63010	Anti Tag CoIP	35271311
Intra	ITSN1	Q15811	AP2B1	Homo sapiens	P63010	Y2H	18654987
Intra	ITSN1	Q15811	CBL	Homo sapiens	P22681	Far-WB	16914641
Intra	ITSN1	Q15811	CBL	Homo sapiens	P22681	Anti Bait CoIP	16914641
Intra	ITSN1	Q15811	CBL	Homo sapiens	P22681	Y2H	18654987
Intra	ITSN1	Q15811	CBL	Homo sapiens	P22681	IF	16914641
Intra	ITSN1	Q15811	DISC1	Homo sapiens	Q9NRI5	Y2H	12812986

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

Autosomal Dominant Non-Syndromic Intellectual Disability

Esophageal Atresia

Tracheoesophageal Fistula	Congenital Atresia Of Esophagus
Congenital Imperforate Esophagus	Imperforate Esophagus
Oesophageal Atresia	Te Fistula
Tef	Tracheoesophageal Fistula With Or Without Esophageal Atresia

Vaccinia

Down Syndrome

Trisomy 21	Complete Trisomy 21 Syndrome
Down'S Syndrome	Trisomy 21 Syndrome
Down'S Syndrome - Trisomy 21	Downs Syndrome
G Trisomy	47,Xx,+21
47,Xy,+21	Trisomy G
Down Syndrome, Susceptibility To	Chromosome 21 Trisomy
Trisomy 21 Nos	Abnormal Autosomes 21

Nephrotic Syndrome, Type 21

NPHS21	Nephrotic Syndrome Type 21
Nephrotic Syndrome 21

Aarskog-Scott Syndrome

Aarskog Syndrome	Faciogenital Dysplasia
Faciodigitogenital Syndrome	AAS
Fgdy	X-Linked Aarskog Syndrome
Intellectual Developmental Disorder, X-Linked, Syndromic 16	Aarskog Syndrome, X-Linked
Intellectual Developmental Disorder, X-Linked Syndromic 16	Greig'S Syndrome
Aarskog Scott Syndrome	Aarskog Disease
Scott Aarskog Syndrome	Facio-Digito-Genital Dysplasia
Faciogenital Dysplasia With Attention Deficit-Hyperactivity Disorder	Aarskog-Scott Syndrome ) Syndrome

Nephrotic Syndrome, Type 22

NPHS22	Nephrotic Syndrome Type 22
Nephrotic Syndrome 22

Warburg Micro Syndrome 1

Warburg Micro Syndrome	Micro Syndrome
Warbm	WARBM1
Warburg Sjo Fledelius Syndrome	Warburg-Sjo-Fledelius Syndrome
Micro Syndrome 1	Microcephaly, Microcornea, Congenital Cataract, Intellectual Disability, Optic Atrophy And Hypogenitalism

Tracheomalacia

Congenital Tracheomalacia	Congenital Major Airway Collapse
Tracheomalacia, Congenital	Type 1 Tracheomalacia

Chromosomal Duplication Syndrome

Amyotrophic Lateral Sclerosis 1

Amyotrophic Lateral Sclerosis	ALS
Lou Gehrig Disease	Amyotrophic Lateral Sclerosis Type 1
Charcot Disease	ALS1
Amyotrophic Lateral Sclerosis, Susceptibility To	Fals
Lou Gehrig'S Disease	Mnd
Motor Neuron Disease	Familial Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 1, Familial	Amyotrophic Lateral Sclerosis 1, Autosomal Dominant
Motor Neuron Disease, Bulbar	Motor Neurone Disease
Amyotrophic Lateral Sclerosis With Dementia	Dementia With Amyotrophic Lateral Sclerosis
Motor Neuron Disease, Amyotrophic Lateral Sclerosis	Sclerosis, Lateral, Amyotrophic
Sclerosis, Lateral, Amyotrophic, Type 1	Amyotrophic Sclerosis
Als - [Amyotrophic Lateral Sclerosis]	Wasting Palsy
Amyotrophic Paralysis	Amyotrophy Lateral Sclerosis
Wasting Paralysis	Spinal Progressive Amyotrophy
Progressive Atrophic Paralysis

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-RS06997	ITSN1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Mus musculus	ITSN1	MGD	MGI:1338069
Macaca mulatta	ITSN1	VGNC	VGNC:73806
Rattus norvegicus	ITSN1	RGD	RGD:2935
Felis catus	ITSN1	VGNC	VGNC:67872
Bos taurus	ITSN1	VGNC	VGNC:30352

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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）

ITSN1 - intersectin 1 Gene

关于 ITSN1

功能概要

ITSN1 基因产物(7)

ITSN1 蛋白结构

ITSN1 蛋白互作信息

关联疾病

直系同源

热门区域

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ITSN1 - intersectin 1 Gene

关于 ITSN1

功能概要

ITSN1 基因产物(7)

ITSN1 蛋白结构

ITSN1 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