NCKIPSD NCK interacting protein with SH3 domain [Homo sapiens (human)] - Gene

Summary

Official Symbol: NCKIPSDprovided by HGNC
Official Full Name: NCK interacting protein with SH3 domainprovided by HGNC
Primary source: HGNC:HGNC:15486
See related: Ensembl:ENSG00000213672 MIM:606671; AllianceGenome:HGNC:15486
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: DIP; DIP1; ORF1; WISH; VIP54; AF3P21; SPIN90; WASLBP
Summary: The protein encoded by this gene contains a nuclear localization signal. It plays a role in signal transduction, and may function in the maintenance of sarcomeres and in the assembly of myofibrils into sarcomeres. It also plays an important role in stress fiber formation This protein is involved in the formation and maintenance of dendritic spines, and modulates synaptic activity in neurons. The gene is involved in therapy-related leukemia by a chromosomal translocation t(3;11)(p21;q23) that involves this gene and the myeloid/lymphoid leukemia gene. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Aug 2019]
Expression: Ubiquitous expression in ovary (RPKM 9.3), brain (RPKM 7.3) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 3p21.31

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (48673844..48685915, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (48702805..48714878, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (48711277..48723348, complement)

Chromosome 3 - NC_000003.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The findings suggest that SPIN90, as an adaptor protein, simultaneously binds inactive Rab5 and Gapex5, thereby altering their spatial proximity and facilitating Rab5 activation.
Title: SPIN90, an adaptor protein, alters the proximity between Rab5 and Gapex5 and facilitates Rab5 activation during EGF endocytosis.
Structure of the nucleation-promoting factor SPIN90 bound to the actin filament nucleator Arp2/3 complex.
Title: Structure of the nucleation-promoting factor SPIN90 bound to the actin filament nucleator Arp2/3 complex.
Low SPIN90 expression is associated with Breast Cancer.
Title: SPIN90 Depletion and Microtubule Acetylation Mediate Stromal Fibroblast Activation in Breast Cancer Progression.
findings suggest that SPIN90 contributes to the formation and movement of endosomal vesicles, and modulates the stability of EGFR protein, which affects cell cycle progression
Title: SPIN90 knockdown attenuates the formation and movement of endosomal vesicles in the early stages of epidermal growth factor receptor endocytosis.
SPIN90 dephosphorylation is a prerequisite step for releasing cofilin so that cofilin can adequately sever actin filaments into monomeric form.
Title: SPIN90 dephosphorylation is required for cofilin-mediated actin depolymerization in NMDA-stimulated hippocampal neurons.
Findings show that SPIN90 modulates synaptic activity in neurons as a result of its phosphorylation.
Title: SPIN90 phosphorylation modulates spine structure and synaptic function.
Dia2 and DIP co-tether to nascent blebs and this linkage is required for bleb formation.
Title: Dia-interacting protein (DIP) imposes migratory plasticity in mDia2-dependent tumor cells in three-dimensional matrices.
SPIN90 and IRSp53 positively cooperated to mediate Rac activation, and co-expression of SPIN90 and IRSp53 in COS-7 cells led to the complex formation of SPIN90-IRSp53 in the leading edge of cells
Title: SPIN90-IRSp53 complex participates in Rac-induced membrane ruffling.
DIP binds to and inhibits actin assembly by the FH2 domain of the formin mDia2
Title: Dia-interacting protein modulates formin-mediated actin assembly at the cell cortex.
The interplay between palladin, SPIN90 and Src and characterized the role of palladin and SPIN90 in platelet derived growth factor and Src-induced cytoskeletal remodeling, was analyzed.
Title: Palladin interacts with SH3 domains of SPIN90 and Src and is required for Src-induced cytoskeletal remodeling.

Submit: New GeneRIF Correction See all GeneRIFs (13)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Knockdown of NCK interacting protein with SH3 domain (NCKIPSD) by siRNA enhances the early stages of HIV-1 replication in HeLa-CD4 cells infected with viral pseudotypes HIV89.6R and HIV8.2N	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables Arp2/3 complex binding	IBA Inferred from Biological aspect of Ancestor more info
enables SH3 domain binding	IEA Inferred from Electronic Annotation more info
enables cytoskeletal protein binding	NAS Non-traceable Author Statement more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in cytoskeleton organization	NAS Non-traceable Author Statement more info	PubMed
involved_in endocytosis	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of neuron projection development	IEA Inferred from Electronic Annotation more info
involved_in regulation of postsynapse assembly	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
part_of COP9 signalosome	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
located_in glutamatergic synapse	IEA Inferred from Electronic Annotation more info
located_in intermediate filament	NAS Non-traceable Author Statement more info	PubMed
located_in postsynapse	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: NCK-interacting protein with SH3 domain

Names: 54 kDa VacA-interacting protein; 54 kDa vimentin-interacting protein; 90 kDa SH3 protein interacting with Nck; SH3 adapter protein SPIN90; SH3 protein interacting with Nck, 90 kDa; WASP-interacting SH3-domain protein; dia interacting protein; dia-interacting protein 1; diaphanous protein interacting protein; wiskott-Aldrich syndrome protein-interacting protein

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_016453.4 → NP_057537.1 NCK-interacting protein with SH3 domain isoform 1

See identical proteins and their annotated locations for NP_057537.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AF303581, HY010884, HY050918

Consensus CDS

CCDS2776.1

UniProtKB/Swiss-Prot

B4DFL5, Q6GU34, Q6SPF3, Q8TC10, Q9NZQ3, Q9UGM8

Related

ENSP00000294129.2, ENST00000294129.7

Conserved Domains (2) summary

cd11849
Location:1 → 54

SH3_SPIN90; Src homology 3 domain of SH3 protein interacting with Nck, 90 kDa (SPIN90)

pfam09431
Location:570 → 683

DUF2013; Protein of unknown function (DUF2013)
NM_184231.3 → NP_909119.1 NCK-interacting protein with SH3 domain isoform 2

See identical proteins and their annotated locations for NP_909119.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses alternate in-frame splice site in the 5' coding region, compared to variant 1. It encodes isoform 2 which lacks an internal segment and is shorter, compared to isoform 1.

Source sequence(s)

BC016052, HY010884, HY050918

Consensus CDS

CCDS46827.1

UniProtKB/Swiss-Prot

Q9NZQ3

Related

ENSP00000389059.2, ENST00000416649.6

Conserved Domains (2) summary

cd11849
Location:1 → 54

SH3_SPIN90; Src homology 3 domain of SH3 protein interacting with Nck, 90 kDa (SPIN90)

pfam09431
Location:563 → 676

DUF2013; Protein of unknown function (DUF2013)