Human Gene NCKIPSD (uc010hkh.2)
  Description: Homo sapiens NCK interacting protein with SH3 domain (NCKIPSD), transcript variant 1, mRNA.
RefSeq Summary (NM_016453): 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].
Transcript (Including UTRs)
   Position: hg19 chr3:48,718,626-48,723,334 Size: 4,709 Total Exon Count: 5 Strand: -
Coding Region
   Position: hg19 chr3:48,718,627-48,723,240 Size: 4,614 Coding Exon Count: 5 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
mRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr3:48,718,626-48,723,334)mRNA (may differ from genome)Protein (395 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCLynxMalacardsMGI
OMIMPubMedUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: C9JSC3_HUMAN
DESCRIPTION: SubName: Full=NCK-interacting protein with SH3 domain; Flags: Fragment;
SIMILARITY: Contains 1 SH3 domain.
CAUTION: The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data.

-  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 -39.2094-0.417 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
IPR001452 - SH3_domain

Pfam Domains:
PF00018 - SH3 domain
PF07653 - Variant SH3 domain
PF14604 - Variant SH3 domain

SCOP Domains:
50044 - SH3-domain

ModBase Predicted Comparative 3D Structure on C9JSC3
FrontTopSide
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 Details     
Gene Sorter     
      
      
      

-  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.
BC026280 - Homo sapiens NCK interacting protein with SH3 domain, mRNA (cDNA clone MGC:23891 IMAGE:4730420), complete cds.
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.
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.

-  Other Names for This Gene
  Alternate Gene Symbols: BC006255, C9JSC3, C9JSC3_HUMAN, NM_016453, NP_057537
UCSC ID: uc010hkh.2
RefSeq Accession: NM_016453
Protein: C9JSC3

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: BC006255.2
exon count: 5CDS single in 3' UTR: no RNA size: 1276
ORF size: 1185CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 2418.00frame shift in genome: no % Coverage: 95.14
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: no retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 94# strange splices: 0
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.