Human Gene NCKIPSD (ENST00000294129.7_11) from GENCODE V47lift37
  Description: NCK interacting protein with SH3 domain, transcript variant 1 (from RefSeq NM_016453.4)
Gencode Transcript: ENST00000294129.7_11
Gencode Gene: ENSG00000213672.8_17
Transcript (Including UTRs)
   Position: hg19 chr3:48,711,277-48,723,348 Size: 12,072 Total Exon Count: 13 Strand: -
Coding Region
   Position: hg19 chr3:48,711,977-48,723,240 Size: 11,264 Coding Exon Count: 13 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr3:48,711,277-48,723,348)mRNA (may differ from genome)Protein (722 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
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HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: SPN90_HUMAN
DESCRIPTION: RecName: Full=NCK-interacting protein with SH3 domain; AltName: Full=54 kDa VacA-interacting protein; AltName: Full=54 kDa vimentin-interacting protein; Short=VIP54; AltName: Full=90 kDa SH3 protein interacting with Nck; AltName: Full=AF3p21; AltName: Full=Dia-interacting protein 1; Short=DIP-1; AltName: Full=Diaphanous protein-interacting protein; AltName: Full=SH3 adapter protein SPIN90; AltName: Full=WASP-interacting SH3-domain protein; Short=WISH; AltName: Full=Wiskott-Aldrich syndrome protein-interacting protein;
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.
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.
SUBCELLULAR LOCATION: Nucleus. Note=Colocalizes with DRF1 at membrane ruffles, and with Nck at Z-disks in mature cardiac myocytes.
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.
DISEASE: Note=A chromosomal aberration involving NCKIPSD/AF3p21 is found in therapy-related leukemia. Translocation t(3;11)(p21;q23) with MLL.
SIMILARITY: Contains 1 SH3 domain.
SEQUENCE CAUTION: Sequence=BAG57476.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/AF3p21ID228.html";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: NCKIPSD
Diseases sorted by gene-association score: wiskott-aldrich syndrome (12), lymphoid leukemia (11)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 30.81 RPKM in Brain - Cortex
Total median expression: 633.02 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -47.00108-0.435 Picture PostScript Text
3' UTR -260.70700-0.372 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR018556 - DUF2013
IPR001452 - SH3_domain

Pfam Domains:
PF00018 - SH3 domain
PF07653 - Variant SH3 domain
PF09431 - Protein of unknown function (DUF2013)

SCOP Domains:
48371 - ARM repeat
50044 - SH3-domain

ModBase Predicted Comparative 3D Structure on Q9NZQ3
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details Gene Details  
Gene SorterGene Sorter Gene Sorter  
 RGDEnsembl   
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0008092 cytoskeletal protein binding
GO:0017124 SH3 domain binding

Biological Process:
GO:0006607 NLS-bearing protein import into nucleus
GO:0007010 cytoskeleton organization
GO:0007165 signal transduction
GO:0010976 positive regulation of neuron projection development
GO:0038096 Fc-gamma receptor signaling pathway involved in phagocytosis

Cellular Component:
GO:0005634 nucleus
GO:0005829 cytosol
GO:0005882 intermediate filament
GO:0008180 COP9 signalosome


-  Descriptions from all associated GenBank mRNAs
  AJ242655 - Homo sapiens mRNA for a putative intermediate filaments interacting protein.
AY453794 - Homo sapiens wasp-interacting SH3 protein isoform B mRNA, complete cds.
LF208640 - JP 2014500723-A/16143: Polycomb-Associated Non-Coding RNAs.
BC016052 - Homo sapiens NCK interacting protein with SH3 domain, mRNA (cDNA clone MGC:22962 IMAGE:4862348), complete cds.
AF303581 - Homo sapiens SPIN90 mRNA, complete cds.
AF178432 - Homo sapiens SH3 protein (AF3P21) mRNA, complete cds.
LF378615 - JP 2014500723-A/186118: Polycomb-Associated Non-Coding RNAs.
BC026280 - Homo sapiens NCK interacting protein with SH3 domain, mRNA (cDNA clone MGC:23891 IMAGE:4730420), complete cds.
JD373511 - Sequence 354535 from Patent EP1572962.
JD086567 - Sequence 67591 from Patent EP1572962.
JD085713 - Sequence 66737 from Patent EP1572962.
JD477752 - Sequence 458776 from Patent EP1572962.
JD487869 - Sequence 468893 from Patent EP1572962.
JD271544 - Sequence 252568 from Patent EP1572962.
JD148457 - Sequence 129481 from Patent EP1572962.
JD073247 - Sequence 54271 from Patent EP1572962.
JD115563 - Sequence 96587 from Patent EP1572962.
JD369848 - Sequence 350872 from Patent EP1572962.
JD115907 - Sequence 96931 from Patent EP1572962.
JD470346 - Sequence 451370 from Patent EP1572962.
JD470345 - Sequence 451369 from Patent EP1572962.
JD524077 - Sequence 505101 from Patent EP1572962.
JD132487 - Sequence 113511 from Patent EP1572962.
JD088976 - Sequence 70000 from Patent EP1572962.
JD488369 - Sequence 469393 from Patent EP1572962.
JD294534 - Sequence 275558 from Patent EP1572962.
JD207947 - Sequence 188971 from Patent EP1572962.
JD099679 - Sequence 80703 from Patent EP1572962.
JD186021 - Sequence 167045 from Patent EP1572962.
JD498330 - Sequence 479354 from Patent EP1572962.
JD551310 - Sequence 532334 from Patent EP1572962.
JD432317 - Sequence 413341 from Patent EP1572962.
JD492817 - Sequence 473841 from Patent EP1572962.
JD227071 - Sequence 208095 from Patent EP1572962.
JD485380 - Sequence 466404 from Patent EP1572962.
JD546500 - Sequence 527524 from Patent EP1572962.
JF432321 - Synthetic construct Homo sapiens clone IMAGE:100073507 NCK interacting protein with SH3 domain (NCKIPSD) gene, encodes complete protein.
KJ893928 - Synthetic construct Homo sapiens clone ccsbBroadEn_03322 NCKIPSD gene, encodes complete protein.
AB384897 - Synthetic construct DNA, clone: pF1KB4102, Homo sapiens NCKIPSD gene for SH3 adapter protein SPIN90, complete cds, without stop codon, in Flexi system.
AK294151 - Homo sapiens cDNA FLJ57353 complete cds, highly similar to SH3 adapter protein SPIN90.
LF378610 - JP 2014500723-A/186113: Polycomb-Associated Non-Coding RNAs.
LF378609 - JP 2014500723-A/186112: Polycomb-Associated Non-Coding RNAs.
BC006255 - Homo sapiens NCK interacting protein with SH3 domain, mRNA (cDNA clone IMAGE:3952639), partial cds.
CU677561 - Synthetic construct Homo sapiens gateway clone IMAGE:100020420 5' read NCKIPSD mRNA.
JD163761 - Sequence 144785 from Patent EP1572962.
MA444217 - JP 2018138019-A/16143: Polycomb-Associated Non-Coding RNAs.
MA614192 - JP 2018138019-A/186118: Polycomb-Associated Non-Coding RNAs.
MA614187 - JP 2018138019-A/186113: Polycomb-Associated Non-Coding RNAs.
MA614186 - JP 2018138019-A/186112: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q9NZQ3 (Reactome details) participates in the following event(s):

R-HSA-2197691 Activation of WASP/N-WASP by WIP family and SH3 domain proteins
R-HSA-2197698 Phosphorylation of WASP/N-WASP
R-HSA-442592 WASPs or WAVEs activate the ARP2/3 complex
R-HSA-2197690 Detachment of WASP/WAVE
R-HSA-2029466 Attachment of preexisting mother filament and initiation of branching
R-HSA-2029482 Regulation of actin dynamics for phagocytic cup formation
R-HSA-5663213 RHO GTPases Activate WASPs and WAVEs
R-HSA-2029480 Fcgamma receptor (FCGR) dependent phagocytosis
R-HSA-195258 RHO GTPase Effectors
R-HSA-168249 Innate Immune System
R-HSA-194315 Signaling by Rho GTPases
R-HSA-168256 Immune System
R-HSA-162582 Signal Transduction

-  Other Names for This Gene
  Alternate Gene Symbols: AF3P21, B4DFL5, ENST00000294129.1, ENST00000294129.2, ENST00000294129.3, ENST00000294129.4, ENST00000294129.5, ENST00000294129.6, NM_016453, Q6GU34, Q6SPF3, Q8TC10, Q9NZQ3, Q9UGM8, SPIN90, SPN90_HUMAN, uc317lga.1, uc317lga.2
UCSC ID: ENST00000294129.7_11
RefSeq Accession: NM_016453.4
Protein: Q9NZQ3 (aka SPN90_HUMAN or SP90_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.