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ITSN1 - intersectin 1 Gene

Also Known as ITSN; SH3D1A; SH3P17

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 6453

About 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.

Summary

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 Products (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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Références	Source
enables molecular adaptor activity	IDA IDA: Inferred from direct assay	20946875	GOA
enables proline-rich region binding	IPI IPI: Inferred from physical interaction	20946875	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	10064583	GOA

Biological Process GO Annotation	Evidence	Références	Source
involved in protein localization	IMP IMP: Inferred from mutant phenotype	29887380	GOA

Cellular Component GO Annotation	Evidence	Références	Source
colocalizes with clathrin-coated pit	IDA IDA: Inferred from direct assay	29887380	GOA
located in clathrin-coated pit	IDA IDA: Inferred from direct assay	20946875	GOA
located in cytoplasm	IDA IDA: Inferred from direct assay	29599122	GOA
located in nuclear envelope	IDA IDA: Inferred from direct assay	29599122	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	20946875	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ITSN1 Protein Structure

EF-hand_4

SH3_9

RhoGEF

0
300
600
900
1200
1500
1721 a.a.

Protein Preferred Names	Protein Names
intersectin-1	SH3 domain-containing protein 1A

ITSN1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Références
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

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
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

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

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Nom du produit	Effect	Pureté	Rare Diseases
HY-RS06997	ITSN1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	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
Others	ITSN1	NCBI