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  3. ITSN1 - intersectin 1 Gene

ITSN1 - intersectin 1 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as ITSN; SH3D1A; SH3P17

Gene ID: 6453 | Gene type: protein coding

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 Reference 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 Reference Source
involved in protein localization IMP
IMP: Inferred from mutant phenotype
29887380 GOA
Cellular Component GO Annotation Evidence Reference 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

EF-hand_4: Cytoskeletal-regulatory complex EF hand (21 - 99)

EF-hand_4

EF-hand_4: Cytoskeletal-regulatory complex EF hand (223 - 307)

SH3_9

SH3_9: Variant SH3 domain (747 - 802)

SH3_9

SH3_9: Variant SH3 domain (920 - 967)

SH3_9

SH3_9: Variant SH3 domain (1009 - 1055)

SH3_9

SH3_9: Variant SH3 domain (1081 - 1134)

SH3_9

SH3_9: Variant SH3 domain (1163 - 1210)

RhoGEF

RhoGEF: RhoGEF domain (1242 - 1422)

C2

C2: C2 domain (1598 - 1678)

  • 0
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  • 1500
  • 1721 a.a.
Protein Preferred Names Protein Names

intersectin-1

SH3 domain-containing protein 1A

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
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS06997 ITSN1 Human Pre-designed siRNA Set A Pre-designed Sets / 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