ITSN1 (intersectin 1)

2003-11-01  

Identity

HGNC
ITSN1
LOCATION
21q22.11
LOCUSID
6453
ALIAS
ITSN,SH3D1A,SH3P17
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
347072972022ITSN1: a novel candidate gene involved in autosomal dominant neurodevelopmental disorder spectrum.4
361711982022The alternative splicing of intersectin 1 regulated by PTBP1 promotes human glioma progression.5
347072972022ITSN1: a novel candidate gene involved in autosomal dominant neurodevelopmental disorder spectrum.4
361711982022The alternative splicing of intersectin 1 regulated by PTBP1 promotes human glioma progression.5
327801502021ITSN1 regulates SAM68 solubility through SH3 domain interactions with SAM68 proline-rich motifs.5
346255302021Endocytic protein intersectin1-S shuttles into nucleus to suppress the DNA replication in breast cancer.1
327801502021ITSN1 regulates SAM68 solubility through SH3 domain interactions with SAM68 proline-rich motifs.5
346255302021Endocytic protein intersectin1-S shuttles into nucleus to suppress the DNA replication in breast cancer.1
305405232019Intersectin-1 interacts with the golgin GCC88 to couple the actin network and Golgi architecture.18
311605512019Alternative splicing-derived intersectin1-L and intersectin1-S exert opposite function in glioma progression.18
305405232019Intersectin-1 interacts with the golgin GCC88 to couple the actin network and Golgi architecture.18
311605512019Alternative splicing-derived intersectin1-L and intersectin1-S exert opposite function in glioma progression.18
298510862018Ubiquitin-ligase AIP4 controls differential ubiquitination and stability of isoforms of the scaffold protein ITSN1.1
299589482018WIP/ITSN1 complex is involved in cellular vesicle trafficking and formation of filopodia-like protrusions.6
298510862018Ubiquitin-ligase AIP4 controls differential ubiquitination and stability of isoforms of the scaffold protein ITSN1.1

Citation

Dessen P

ITSN1 (intersectin 1)

Atlas Genet Cytogenet Oncol Haematol. 2003-11-01

Online version: http://atlasgeneticsoncology.org/gene/41028/gene-explorer/js/lib/css/js/web-card-_common.js