ITSN1 (intersectin 1)

2003-11-01  

Identity

HGNC
LOCATION
21q22.11
LOCUSID
ALIAS
ITSN,SH3D1A,SH3P17
FUSION GENES

Other Information

Locus ID:

NCBI: 6453
MIM: 602442
HGNC: 6183
Ensembl: ENSG00000205726

Variants:

dbSNP: 6453
ClinVar: 6453
TCGA: ENSG00000205726
COSMIC: ITSN1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000205726ENST00000379960D6PAW0
ENSG00000205726ENST00000381283C9JQZ7
ENSG00000205726ENST00000381284H0Y3G5
ENSG00000205726ENST00000381285A8CTZ0
ENSG00000205726ENST00000381291Q15811
ENSG00000205726ENST00000381318Q15811
ENSG00000205726ENST00000399338Q15811
ENSG00000205726ENST00000399349Q15811
ENSG00000205726ENST00000399352Q15811
ENSG00000205726ENST00000399353Q15811
ENSG00000205726ENST00000399355F8W7U0
ENSG00000205726ENST00000399367Q15811
ENSG00000205726ENST00000415023Q6J334
ENSG00000205726ENST00000419241H7C429
ENSG00000205726ENST00000420666H0Y6W3
ENSG00000205726ENST00000437126H0Y7J7
ENSG00000205726ENST00000440794H0Y523
ENSG00000205726ENST00000444491C9J1A4
ENSG00000205726ENST00000451686C9JXS9
ENSG00000205726ENST00000456489H7C3F1

Expression (GTEx)

0
5
10
15
20

Pathways

PathwaySourceExternal ID
Signal TransductionREACTOMER-HSA-162582
Signalling by NGFREACTOMER-HSA-166520
p75 NTR receptor-mediated signallingREACTOMER-HSA-193704
Cell death signalling via NRAGE, NRIF and NADEREACTOMER-HSA-204998
NRAGE signals death through JNKREACTOMER-HSA-193648
Signaling by Rho GTPasesREACTOMER-HSA-194315
Rho GTPase cycleREACTOMER-HSA-194840
Signaling by GPCRREACTOMER-HSA-372790
GPCR downstream signalingREACTOMER-HSA-388396
G alpha (12/13) signalling eventsREACTOMER-HSA-416482
Vesicle-mediated transportREACTOMER-HSA-5653656
Membrane TraffickingREACTOMER-HSA-199991
Developmental BiologyREACTOMER-HSA-1266738
Axon guidanceREACTOMER-HSA-422475
EPH-Ephrin signalingREACTOMER-HSA-2682334
EPHB-mediated forward signalingREACTOMER-HSA-3928662
Clathrin-mediated endocytosisREACTOMER-HSA-8856828
Cargo recognition for clathrin-mediated endocytosisREACTOMER-HSA-8856825

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
168743032006Intersectin-1L nucleotide exchange factor regulates secretory granule exocytosis by activating Cdc42.36
169146412006Intersectin regulates epidermal growth factor receptor endocytosis, ubiquitylation, and signaling.32
129604352003Intersectin regulates fission and internalization of caveolae in endothelial cells.30
174058812007Intersectin-1s regulates the mitochondrial apoptotic pathway in endothelial cells.28
164428552006Alzheimer's disease and endocytic dysfunction: clues from the Down syndrome-related proteins, DSCR1 and ITSN1.24
242840732014Cdc42 and the Rho GEF intersectin-1 collaborate with Nck to promote N-WASP-dependent actin polymerisation.22
211291552011Regulation of dynamin-2 assembly-disassembly and function through the SH3A domain of intersectin-1s.13
186920522008SHIP2 associates with intersectin and recruits it to the plasma membrane in response to EGF.12
222668512012Intersectin 1 is required for neuroblastoma tumorigenesis.12
209468752010Intersectin 1 forms complexes with SGIP1 and Reps1 in clathrin-coated pits.11

Citation

Dessen P

ITSN1 (intersectin 1)

Atlas Genet Cytogenet Oncol Haematol. 2003-11-01

Online version: http://atlasgeneticsoncology.org/gene/41028/itsn1-(intersectin-1)