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NCKIPSD Gene

protein-coding GIFtS: 55
GCID: GC03M048701

NCK Interacting Protein With SH3 Domain

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(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, and/or ¹⁵RNAdb)
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Aliases
NCK Interacting Protein With SH3 Domain¹ ²		WASP-Interacting SH3-Domain Protein² ³
AF3P21² ³ ⁵		90 KDa¹
SPIN90² ³ ⁵		SH3 Protein Interacting With Nck¹
Dia Interacting Protein¹ ²		DIP²
Diaphanous Protein Interacting Protein¹ ²		DIP1²
Dia-Interacting Protein 1² ³		ORF1²
Wiskott-Aldrich Syndrome Protein-Interacting Protein² ³		WASLBP²
54 KDa VacA-Interacting Protein² ³		NCK-Interacting Protein With SH3 Domain²
54 KDa Vimentin-Interacting Protein² ³		SH3 Protein Interacting With Nck, 90 KDa²
90 KDa SH3 Protein Interacting With Nck² ³		AF3p21³
VIP54² ³		DIP-1³
WISH² ³		Diaphanous Protein-Interacting Protein³
SH3 Adapter Protein SPIN90² ³

External Ids:	HGNC: 15486¹	Entrez Gene: 51517²	Ensembl: ENSG00000213672⁷	OMIM: 606671⁵	UniProtKB: Q9NZQ3³

Export aliases for NCKIPSD gene to outside databases

Previous GC identifers: GC03M048661 GC03M048675

(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for NCKIPSD Gene:

The protein encoded by this gene is localized exclusively in the cell nucleus. 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. 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,

Jul 2013)

GeneCards Summary for NCKIPSD Gene:

NCKIPSD (NCK interacting protein with SH3 domain) is a protein-coding gene. Diseases associated with NCKIPSD include lymphoid leukemia, and wiskott-aldrich syndrome. GO annotations related to this gene include cytoskeletal protein binding and SH3 domain binding.

UniProtKB/Swiss-Prot: SPN90_HUMAN, Q9NZQ3

Function: Has an important role in stress fiber formation induced by active diaphanous protein homolog 1 (DRF1).

Induces microspike formation, in vivo (By similarity). In vitro, stimulates N-WASP-induced ARP2/3 complex

activation in the absence of CDC42 (By similarity). May play an important role in the maintenance of sarcomeres

and/or in the assembly of myofibrils into sarcomeres. Implicated in regulation of actin polymerization and cell

adhesion. Plays a role in angiogenesis

Gene Wiki entry for NCKIPSD Gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:

NC_000003.12 NT_022517.19 NC_018914.2

Regulatory elements:

Regulatory transcription factor binding sites in the NCKIPSD gene promoter:
E2F-4 E2F-3a E2F-5 E2F-1 E2F ATF-2 E2F-2 c-Jun Tal-1beta E47
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: NCKIPSD promoter sequence

Search Chromatin IP Primers for NCKIPSD

Epigenetics:

DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat NCKIPSD

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 3p21 Ensembl cytogenetic band: 3p21.31 HGNC cytogenetic band: 3p21

NCKIPSD Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NCKIPSD gene location

GeneLoc information about chromosome 3 GeneLoc Exon Structure

GeneLoc location for GC03M048701: view genomic region (about GC identifiers)

Start:	48,701,364 bp from pter	End:	48,723,797 bp from pter
Size:	22,434 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, ²neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: SPN90_HUMAN, Q9NZQ3 (See protein sequence)

Recommended Name: NCK-interacting protein with SH3 domain

Size: 722 amino acids; 78960 Da

Subunit: Associates with the intermediate filaments, vimentin and desmin. Binds the first and third SH3 domains of

NCK. Binds the proline-rich domains of N-WASP through its SH3 domain (By similarity). Similarly, binds diaphanous

protein homolog 1 (DRF1). Binds the SH3 domains of GRB2 through its proline-rich domains. Interacts with

Helicobacter pylori toxin vacA. Isoform 4 interacts with FHOD1. Interacts with FASLG. Interacts with TMIGD2

Sequence caution: Sequence=BAG57476.1; Type=Erroneous initiation; Note=Translation N-terminally extended;

Secondary accessions: B4DFL5 Q6GU34 Q6SPF3 Q8TC10 Q9UGM8

Alternative splicing: 5 isoforms: Q9NZQ3-1 Q9NZQ3-2 Q9NZQ3-3 Q9NZQ3-4 Q9NZQ3-5 (Found in a brain affected by Alzheimer disease. May be due to intron retention. No experimental confirmation available)

Explore the universe of human proteins at neXtProt for NCKIPSD: NX_Q9NZQ3

Explore proteomics data for NCKIPSD at MOPED

Post-translational modifications:

Modification sites at neXtProt

Modification sites at PhosphoSitePlus

See NCKIPSD Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins (2 alternative transcripts):

NP_057537.1 NP_909119.1

ENSEMBL proteins:

ENSP00000389059 ENSP00000294129 ENSP00000396683 ENSP00000406442 ENSP00000409675

ENSP00000416144 ENSP00000408588 ENSP00000416904 ENSP00000342621

Reactome Protein details: Q9NZQ3

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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2 InterPro protein domains:

IPR018556 DUF2013

IPR001452 SH3_domain

Graphical View of Domain Structure for InterPro Entry Q9NZQ3

ProtoNet protein and cluster: Q9NZQ3

1 Blocks protein domain: IPB001452 SH3 domain signature

UniProtKB/Swiss-Prot: SPN90_HUMAN, Q9NZQ3

Similarity: Contains 1 SH3 domain

NCKIPSD for domains About GeneDecksing

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:

UniProtKB/Swiss-Prot Summary: SPN90_HUMAN, Q9NZQ3

Function: Has an important role in stress fiber formation induced by active diaphanous protein homolog 1 (DRF1).

Induces microspike formation, in vivo (By similarity). In vitro, stimulates N-WASP-induced ARP2/3 complex

activation in the absence of CDC42 (By similarity). May play an important role in the maintenance of sarcomeres

and/or in the assembly of myofibrils into sarcomeres. Implicated in regulation of actin polymerization and cell

adhesion. Plays a role in angiogenesis

Gene Ontology (GO): 3 molecular function terms: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005515	protein binding	IPI	15095401
GO:0008092	cytoskeletal protein binding	NAS	10619843
GO:0017124	SH3 domain binding	IEA	--

NCKIPSD for ontologies About GeneDecksing

Phenotypes:
1 GenomeRNAi human phenotype for NCKIPSD:

Synthetic lethal with Ras

5 MGI mutant phenotypes (inferred from 3 alleles) (MGI details for Nckipsd):

cellular

growth/size/body

nervous system

no phenotypic analysis

reproductive system

NCKIPSD for phenotypes About GeneDecksing

Animal Models:
MGI mouse knock-outs for NCKIPSD: Nckipsd^tm1Wkso Nckipsd^tm1.2Toft

inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for NCKIPSD

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miRNA Products:		miRTarBase miRNAs that target NCKIPSD: hsa-mir-125a-5p (MIRT045772), hsa-let-7e-5p (MIRT051609), hsa-mir-1226-3p (MIRT036524), hsa-mir-148b-3p (MIRT019269)

		Block miRNA regulation of human, mouse, rat NCKIPSD using miScript Target Protectors
		Selected qRT-PCR Assays for microRNAs that regulate NCKIPSD (see all 43):
		hsa-miR-4254 hsa-miR-1321 hsa-miR-15a hsa-miR-301a hsa-miR-424 hsa-miR-124 hsa-miR-637 hsa-miR-3116

		SwitchGear 3'UTR luciferase reporter plasmid: NCKIPSD 3' UTR sequence

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Gene Editing
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		GenScript: all cDNA clones in your preferred vector (see all 2): NCKIPSD (NM_184231)
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In Situ Assay
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(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot

SPN90_HUMAN, Q9NZQ3: Nucleus. Note=Colocalizes with DRF1 at membrane ruffles, and with Nck at Z-disks in mature

cardiac myocytes

Subcellular locations from COMPARTMENTS:

Compartment	Confidence
cytoskeleton	5
nucleus	5
cytosol	4

About this image

Gene Ontology (GO): 3 cellular component terms: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005829	cytosol	TAS	--
GO:0005882	intermediate filament	NAS	10619843
GO:0008180	colocalizes with COP9 signalosome	IDA	18850735

NCKIPSD for ontologies About GeneDecksing

(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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SuperPaths for NCKIPSD About

See pathways by source

SuperPath

Contained pathways About

Fcgamma receptor (FCGR) dependent phagocytosis

Regulation of actin dynamics for phagocytic cup formation

0.77

Fcgamma receptor (FCGR) dependent phagocytosis

0.77

Pathways by source See SuperPaths
Show all pathways

1 Reactome Pathway for NCKIPSD

Regulation of actin dynamics for phagocytic cup formation

NCKIPSD for pathways About GeneDecksing

Custom Pathway & Disease-focused RT² Profiler PCR Arrays for NCKIPSD
Interactions:

GeneGlobe Interaction Network for NCKIPSD

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

Selected Interacting proteins for NCKIPSD (Q9NZQ3^{1, 2, 3} ENSP00000294129⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 57)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
ABL1	P00519²^,³, ENSP00000361423⁴	MINT-8110791 I2D: score=3 STRING: ENSP00000361423
BAIAP2	Q9UQB8¹^,²^,³, ENSP00000316338⁴	EBI-745080,EBI-525456 MINT-7219383 I2D: score=6 STRING: ENSP00000316338
PALLD	Q8WX93²^,³, ENSP00000261509⁴	MINT-8109267 I2D: score=1 STRING: ENSP00000261509
RAC1	P63000²^,³, ENSP00000348461⁴	MINT-7219402 I2D: score=1 STRING: ENSP00000348461
FYN	P06241²^,³, ENSP00000357656⁴	MINT-8111559 I2D: score=3 STRING: ENSP00000357656

About this table

Gene Ontology (GO): 5 biological process terms: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006607	NLS-bearing protein import into nucleus	TAS	10648423
GO:0007010	cytoskeleton organization	NAS	10619843
GO:0007165	signal transduction	TAS	10648423
GO:0038096	Fc-gamma receptor signaling pathway involved in phagocytosis	TAS	--
GO:0045087	innate immune response	TAS	--

NCKIPSD for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse compounds at ApexBio

Browse Tocris compounds for NCKIPSD (SPN90)

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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REFSEQ mRNAs for NCKIPSD gene (2 alternative transcripts):

NM_016453.3 NM_184231.2

Unigene Cluster for NCKIPSD:

NCK interacting protein with SH3 domain

Hs.655006 [show with all ESTs]

Unigene Representative Sequence: AJ242655

10 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000416649 ENST00000294129(uc003cun.3 uc003cum.3) ENST00000413374

ENST00000470006 ENST00000415281 ENST00000439518(uc010hkh.2) ENST00000454134

ENST00000453349 ENST00000426678 ENST00000341520

miRNA Products:		Block miRNA regulation of human, mouse, rat NCKIPSD using miScript Target Protectors
		Selected qRT-PCR Assays for microRNAs that regulate NCKIPSD (see all 43):
		hsa-miR-4254 hsa-miR-1321 hsa-miR-15a hsa-miR-301a hsa-miR-424 hsa-miR-124 hsa-miR-637 hsa-miR-3116

		SwitchGear 3'UTR luciferase reporter plasmid: NCKIPSD 3' UTR sequence

Inhib. RNA Products:		OriGene RNAi products in human, mouse, rat for NCKIPSD
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		GenScript: all cDNA clones in your preferred vector (see all 2): NCKIPSD (NM_184231)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for NCKIPSD
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		Pre-validated RT² qPCR Primer Assay in human, mouse, rat NCKIPSD
		QuantiTect SYBR Green Assays in human, mouse, rat NCKIPSD
		QuantiFast Probe-based Assays in human, mouse, rat NCKIPSD

Additional mRNA sequence:

AF178432.1 AF303581.1 AJ242655.2 AK294151.1 AL049430.1 AY453794.1 BC006255.2 BC016052.1

BC026280.1

9 DOTS entries:

DT.442329 DT.100781728 DT.305127 DT.40271098 DT.97846133 DT.100781726 DT.99950774 DT.95075914

DT.92430019

1 AceView cDNA sequence:

BF894800

GeneLoc Exon Structure

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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NCKIPSD expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: TGTATTTTCC

About this image

NCKIPSD Protein expression data from MOPED¹, PaxDb² and MaxQB³:

About this image

NCKIPSD Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.655006

UniProtKB/Swiss-Prot: SPN90_HUMAN, Q9NZQ3

Tissue specificity: Highest expression in heart, brain, skeletal muscle, kidney and liver. Lower levels in

placenta, lung, small intestine and leukocytes. Weak expression in colon, thymus and spleen

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In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NCKIPSD

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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This gene was present in the common ancestor of animals.

Orthologs for NCKIPSD gene from Selected species (see all 13) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Nckipsd^{1 , 5}	NCK interacting protein with SH3 domain^{1, 5}	87.11(n)¹ 89.36(a)¹		9 (59.63 cM)⁵ 80987¹ NM_030729.4¹ NP_109654.2¹ 108808380⁵
chicken (Gallus gallus)	Aves	NCKIPSD¹	NCK interacting protein with SH3 domain	72.53(n) 71.96(a)		770439 XM_001233773.3 XP_001233774.3
lizard (Anolis carolinensis)	Reptilia	NCKIPSD⁶	NCK interacting protein with SH3 domain	65(a)	1 ↔ 1	2(164066029-164223893)
tropical clawed frog (Xenopus tropicalis)	Amphibia	nckipsd¹	NCK interacting protein with SH3 domain	66.19(n) 66.91(a)		100170192 NM_001129942.1 NP_001123414.1
zebrafish (Danio rerio)	Actinopterygii	nckipsd¹	NCK interacting protein with SH3 domain	62.75(n) 59.25(a)		100003986 XM_002666097.3 XP_002666143.3
fruit fly (Drosophila melanogaster)	Insecta	CG2258⁶	--	28(a)	1 ↔ 1	X(7990610-7996087)

ENSEMBL Gene Tree for NCKIPSD (if available)
TreeFam Gene Tree for NCKIPSD (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
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Paralogs for NCKIPSD gene

5 SIMAP similar genes for NCKIPSD using alignment to 7 protein entries: SPN90_HUMAN (see all proteins):

FNBP1L GRAP GRAPL TXK FYN

NCKIPSD for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, ⁴UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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SNP ID	Valid	Clinical significance	Chr 3 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs192377002^1,2		--	48710784(+)	`ATCACC/TGGAAC`	2	--	ds500¹		0	--	--	--	--
rs34383223^1,2	C	--	48710839(+)	`TACCAAA/-AAAAA`	2	--	ds500¹		1		NA	2
rs73830473^1,2	C,F	--	48711199(+)	`AAGCTG/ACAGTG`	2	--	ds500¹		3		WA CSA	121
rs184612927^1,2		--	48711414(+)	`CATGAA/GGCTCC`	2	--	ut3¹		0	--	--	--	--
rs115864799^1,2	C,F	--	48711627(+)	`GGATAC/TAGACC`	2	--	ut3¹		1		WA	118
rs148042141^1,2		--	48711634(+)	`GACCAA/GGAGGG`	2	--	ut3¹		0	--	--	--	--
rs11545755^1,2	C	--	48711659(-)	`GGCTGG/TACCAG`	2	--	ut3¹		2		NA	4
rs199533994^1,2		--	48712104(+)	`GGTCGA/GGTAGC`	4	P L	mis¹		0	--	--	--	--
rs17855516^1,2,,4	H	--	48712167(+)	`AGAGGT/GACTCC`	4	/Y /S	mis¹		4		NS EA	420
rs187527777^1,2	C	--	48712172(+)	`TACTCC/TATGCG`	4	I M	mis¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for NCKIPSD (48701364 - 48723797 bp)

Structural Variations
Database of Genomic Variants (DGV) 4 variations for NCKIPSD: About this table

Variant ID	Type	Subtype	PubMed ID
nsv876762	CNV	Loss	21882294
nsv834685	CNV	Loss	17160897
nsv523981	CNV	Loss	19592680
nsv818138	CNV	Gain	17921354

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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OMIM gene information: 606671 OMIM disorders: --

UniProtKB/Swiss-Prot: SPN90_HUMAN, Q9NZQ3

Note=A chromosomal aberration involving NCKIPSD/AF3p21 is found in therapy-related leukemia.

Translocation t(3;11)(p21;q23) with KMT2A/MLL1

11 diseases for NCKIPSD:
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lymphoid leukemia wiskott-aldrich syndrome leukemia pancreatic cancer

alzheimer's disease pancreatitis malaria hiv-1

multiple myeloma myeloma neuronitis

NCKIPSD for disorders About GeneDecksing

Congresses - knowledge worth sharing:
Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

2 Novoseek inferred disease relationships for NCKIPSD gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
wiskott-aldrich syndrome	70.8	2	12853106 (1), 11157975 (1)
leukemia	33.7	6	11241789 (2), 11697487 (2), 10648423 (1)

Export disorders for NCKIPSD gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for NCKIPSD gene, integrated from 10 sources (see all 38):
(articles sorted by number of sources associating them with NCKIPSD)

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Novel SH3 protein encoded by the AF3p21 gene is fused to the mixed lineage leukemia protein in a therapy-related leukemia with t(3;11)(p21;q23). (PubMed id 10648423)^{1, 2, 3, 9} Sano K.... Nakamura H. (Blood 2000)
The VacA toxin of Helicobacter pylori identifies a new intermediate filament-interacting protein. (PubMed id 10619843)^{1, 2, 3} de Bernard M....Montecucco C. (EMBO J. 2000)
Genomic organization, tissue expression and cellular localization of AF3p21, a fusion partner of MLL in therapy-related leukemia. (PubMed id 11241789)^{1, 2, 9} Hayakawa A.... Sano K. (Genes Chromosomes Cancer 2001)
SPIN90 (SH3 protein interacting with Nck, 90 kDa), an adapter protein that is developmentally regulated during cardiac myocyte differentiation. (PubMed id 11278500)^{1, 2, 9} Lim C.S.... Song W.K. (J. Biol. Chem. 2001)
Identification of SH3 domain interaction partners of human FasL (CD178) by phage display screening. (PubMed id 19807924)^{1, 2} Voss M.... Janssen O. (BMC Immunol. 2009)
Identification of FHOD1-binding proteins and mechanisms of FHOD1- regulated actin dynamics. (PubMed id 15095401)^{1, 2} Westendorf J.J. and Koka S. (J. Cell. Biochem. 2004)
mDia-interacting protein acts downstream of rho-mDia and modifies src activation and stress fiber formation. (PubMed id 11509578)^{1, 2} Satoh S. and Tominaga T. (J. Biol. Chem. 2001)
A novel neural Wiskott-Aldrich syndrome protein (N-WASP) binding protein, WISH, induces Arp2/3 complex activation independent of Cdc42. (PubMed id 11157975)^{1, 9} Fukuoka M....Takenawa T. (J. Cell Biol. 2001)
Dia-interacting protein modulates formin-mediated actin assembly at the cell cortex. (PubMed id 17398099)^{1, 9} Eisenmann K.M....Alberts A.S. (Curr. Biol. 2007)
SPIN90 dephosphorylation is required for cofilin-mediated actin depolymerization in NMDA-stimulated hippocampal neurons. (PubMed id 23765104)¹ Cho I.H....Song W.K. (Cell. Mol. Life Sci. 2013)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 51517	HGNC: 15486	AceView: NCKIPSD	Ensembl:ENSG00000213672	euGenes: HUgn51517
ECgene: NCKIPSD	H-InvDB: NCKIPSD

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for NCKIPSD	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for NCKIPSD	Genetics and Cytogenetics in Oncology and Haematology

Intellectual Property for NCKIPSD gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for NCKIPSD gene:
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NCKIPSD Gene

NCK Interacting Protein With SH3 Domain

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NCKIPSD (Gene Symbol)
NCK Interacting Protein With SH3 Domain
AF3P21
SPIN90
Dia Interacting Protein
Diaphanous Protein Interacting Protein
Dia-Interacting Protein 1
Wiskott-Aldrich Syndrome Protein-Interacting Protein
54 KDa VacA-Interacting Protein
54 KDa Vimentin-Interacting Protein
90 KDa SH3 Protein Interacting With Nck
VIP54
WISH
SH3 Adapter Protein SPIN90
WASP-Interacting SH3-Domain Protein
90 KDa
SH3 Protein Interacting With Nck
DIP
DIP1
ORF1
WASLBP
NCK-Interacting Protein With SH3 Domain
SH3 Protein Interacting With Nck, 90 KDa
AF3p21
DIP-1
Diaphanous Protein-Interacting Protein

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NCKIPSD Gene

NCK Interacting Protein With SH3 Domain

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