NCKIPSD (NCK interacting protein with SH3 domain)

2000-02-01   Jean-Loup Huret 

Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

Identity

HGNC
NCKIPSD
LOCATION
3p21.31
IMAGE
Atlas Image
LEGEND
Probe(s) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics
LOCUSID
51517
ALIAS
AF3P21,DIP,DIP1,ORF1,SPIN90,VIP54,WASLBP,WISH
FUSION GENES
Show Gene Fusions

DNA/RNA

Description

2990 bp cDNA

Proteins

Expression

wide

Implicated in

Entity name
t(3;11)(p21;q23) --> NCKIPSD -KMT2A
Disease
treatment related acute non lymphoblastic leukemia (t-AML)
Hybrid gene
5 prime MLL-3 prime AF3q21
Fusion protein
AT hooks and methyltransferase domains of MLL in the N-term fused to the proline-rich domain and nuclear localization signal of AF3p21

Bibliography

Pubmed IDLast YearTitleAuthors
103815171999Isochromosome 17q in blast crisis of chronic myeloid leukemia and in other hematologic malignancies is the result of clustered breakpoints in 17p11 and is not associated with coding TP53 mutations.Fioretos T et al

Other Information

Locus ID:

NCBI: 51517
MIM: 606671
HGNC: 15486
Ensembl: ENSG00000213672

Variants:

dbSNP: 51517
ClinVar: 51517
TCGA: ENSG00000213672
COSMIC: NCKIPSD

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000213672ENST00000294129Q9NZQ3
ENSG00000213672ENST00000413374H7C0T9
ENSG00000213672ENST00000415281H7C2K2
ENSG00000213672ENST00000416649Q9NZQ3
ENSG00000213672ENST00000426678C9JC20
ENSG00000213672ENST00000439518C9JSC3
ENSG00000213672ENST00000453349C9JMQ4
ENSG00000213672ENST00000454134F8WCR8

Expression (GTEx)

0
10
20
30
40
50
60
70
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
Immune SystemREACTOMER-HSA-168256
Innate Immune SystemREACTOMER-HSA-168249
Fcgamma receptor (FCGR) dependent phagocytosisREACTOMER-HSA-2029480
Regulation of actin dynamics for phagocytic cup formationREACTOMER-HSA-2029482
Signal TransductionREACTOMER-HSA-162582
Signaling by Rho GTPasesREACTOMER-HSA-194315
RHO GTPase EffectorsREACTOMER-HSA-195258
RHO GTPases Activate WASPs and WAVEsREACTOMER-HSA-5663213

References

Pubmed IDYearTitleCitations
173980992007Dia-interacting protein modulates formin-mediated actin assembly at the cell cortex.58
173980992007Dia-interacting protein modulates formin-mediated actin assembly at the cell cortex.58
175374342007Palladin interacts with SH3 domains of SPIN90 and Src and is required for Src-induced cytoskeletal remodeling.23
162539992006Interaction of SPIN90 with the Arp2/3 complex mediates lamellipodia and actin comet tail formation.22
230247962012Dia-interacting protein (DIP) imposes migratory plasticity in mDia2-dependent tumor cells in three-dimensional matrices.10
145599062003Regulation of SPIN90 phosphorylation and interaction with Nck by ERK and cell adhesion.9
243400492013SPIN90 knockdown attenuates the formation and movement of endosomal vesicles in the early stages of epidermal growth factor receptor endocytosis.6
194603672009SPIN90-IRSp53 complex participates in Rac-induced membrane ruffling.5
237651042013SPIN90 dephosphorylation is required for cofilin-mediated actin depolymerization in NMDA-stimulated hippocampal neurons.5
233421152013SPIN90 phosphorylation modulates spine structure and synaptic function.4

Citation

Jean-Loup Huret

NCKIPSD (NCK interacting protein with SH3 domain)

Atlas Genet Cytogenet Oncol Haematol. 2000-02-01

Online version: http://atlasgeneticsoncology.org/gene/228/nckipsd