Human Gene KHDRBS3 (uc003yuv.3)
  Description: Homo sapiens KH domain containing, RNA binding, signal transduction associated 3 (KHDRBS3), mRNA.
Transcript (Including UTRs)
   Position: hg19 chr8:136,469,716-136,659,848 Size: 190,133 Total Exon Count: 9 Strand: +
Coding Region
   Position: hg19 chr8:136,470,110-136,659,327 Size: 189,218 Coding Exon Count: 9 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsMalaCards
CTDGene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein Structure
Other SpeciesGO AnnotationsmRNA DescriptionsPathwaysOther NamesModel Information
Methods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr8:136,469,716-136,659,848)mRNA (may differ from genome)Protein (346 aa)
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-  Comments and Description Text from UniProtKB
  ID: KHDR3_HUMAN
DESCRIPTION: RecName: Full=KH domain-containing, RNA-binding, signal transduction-associated protein 3; AltName: Full=RNA-binding protein T-Star; AltName: Full=Sam68-like mammalian protein 2; Short=SLM-2; AltName: Full=Sam68-like phosphotyrosine protein;
FUNCTION: RNA-binding protein that plays a role in the regulation of alternative splicing and influences mRNA splice site selection and exon inclusion. May play a role as a negative regulator of cell growth. Inhibits cell proliferation. Involved in splice site selection of vascular endothelial growth factor. Induces an increased concentration-dependent incorporation of exon in CD44 pre-mRNA by direct binding to purine-rich exonic enhancer. RNA- binding abilities are down-regulated by tyrosine kinase PTK6. Involved in post-transcriptional regulation of HIV-1 gene expression. Binds preferentially to the 5'-[AU]UAAA-3' motif in vitro.
SUBUNIT: Self-associates to form homooligomers. Interacts with the splicing regulatory proteins SFRS9, SAFB and YTHDC1. Interacts also with HNRPL and SLM1/KHDRBS2 (By similarity). Interacts with KHDRBS1, RBMX, RBMY1A1 and with p85 subunit of PI3-kinase. Interacts also with SIAH1 which promotes targeting for degradation.
INTERACTION: Q8WX92:COBRA1; NbExp=2; IntAct=EBI-722504, EBI-347721;
SUBCELLULAR LOCATION: Nucleus. Note=Localized in a compartment adjacent to the nucleolus, but distinct from the peri-nucleolar one.
TISSUE SPECIFICITY: Ubiquitous with higher expression in testis, skeletal muscle and brain. Expressed in the kidney only in podocytes, the glomerular epithelial cells of the kidney. Strongly expressed after meiosis.
INDUCTION: Induced in proteinuric diseases. Down-regulated in immortalized fibroblasts isolated after a proliferative crisis accompanied with massive cell death.
DOMAIN: The proline-rich site binds the SH3 domain of the p85 subunit of PI3-kinase.
PTM: Phosphorylated on tyrosine residues. Isoform 1 C-terminal region is tyrosine-rich, but isoform 2 lacking this C-terminal region is also tyrosine-phosphorylated.
SIMILARITY: Belongs to the KHDRBS family.
SIMILARITY: Contains 1 KH domain.

-  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


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): KHDRBS3
CDC HuGE Published Literature: KHDRBS3

-  MalaCards Disease Associations
  MalaCards Gene Search: KHDRBS3
Diseases sorted by gene-association score: transvestism (3), fetishism (3), childhood absence epilepsy (3), extratemporal epilepsy (2), hypophosphatasia, adult (2), paraphilia disorder (1)

-  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: 55.30 RPKM in Testis
Total median expression: 322.47 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 -248.40394-0.630 Picture PostScript Text
3' UTR -102.46521-0.197 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
IPR004087 - KH_dom

Pfam Domains:
PF00013 - KH domain
PF16274 - Qua1 domain
PF16568 - Tyrosine-rich domain of Sam68

SCOP Domains:
54791 - Eukaryotic type KH-domain (KH-domain type I)

ModBase Predicted Comparative 3D Structure on O75525
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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 orthologGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
 Protein Sequence    
 Alignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003676 nucleic acid binding
GO:0003723 RNA binding
GO:0005515 protein binding
GO:0017124 SH3 domain binding
GO:0019904 protein domain specific binding
GO:0042802 identical protein binding

Biological Process:
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006397 mRNA processing
GO:0048024 regulation of mRNA splicing, via spliceosome
GO:0051259 protein oligomerization

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm


-  Descriptions from all associated GenBank mRNAs
  BC068536 - Homo sapiens KH domain containing, RNA binding, signal transduction associated 3, mRNA (cDNA clone MGC:87377 IMAGE:5299218), complete cds.
BC032606 - Homo sapiens KH domain containing, RNA binding, signal transduction associated 3, mRNA (cDNA clone MGC:45200 IMAGE:5537585), complete cds.
AF051321 - Homo sapiens Sam68-like phosphotyrosine protein alpha (SALP) mRNA, complete cds.
AF069681 - Homo sapiens T-Star (T-Star) mRNA, complete cds.
AB463818 - Synthetic construct DNA, clone: pF1KB8230, Homo sapiens KHDRBS3 gene for KH domain containing, RNA binding, signal transduction associated 3, without stop codon, in Flexi system.
DQ890886 - Synthetic construct clone IMAGE:100003516; FLH166802.01X; RZPDo839D0688D KH domain containing, RNA binding, signal transduction associated 3 (KHDRBS3) gene, encodes complete protein.
DQ894041 - Synthetic construct Homo sapiens clone IMAGE:100008501; FLH166800.01L; RZPDo839D0687D KH domain containing, RNA binding, signal transduction associated 3 (KHDRBS3) gene, encodes complete protein.
AF051322 - Homo sapiens Sam68-like phosphotyrosine protein beta (SALP) mRNA, partial cds.
JD222389 - Sequence 203413 from Patent EP1572962.
JD396818 - Sequence 377842 from Patent EP1572962.
JD478180 - Sequence 459204 from Patent EP1572962.
JD458360 - Sequence 439384 from Patent EP1572962.
JD116136 - Sequence 97160 from Patent EP1572962.
BX537666 - Homo sapiens mRNA; cDNA DKFZp686N0494 (from clone DKFZp686N0494).
JD548715 - Sequence 529739 from Patent EP1572962.
JD539231 - Sequence 520255 from Patent EP1572962.
JD506724 - Sequence 487748 from Patent EP1572962.
JD261661 - Sequence 242685 from Patent EP1572962.

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

Protein O75525 (Reactome details) participates in the following event(s):

R-HSA-8849042 PTK6 phosphorylates KHDRBS3
R-HSA-8849468 PTK6 Regulates Proteins Involved in RNA Processing
R-HSA-8848021 Signaling by PTK6
R-HSA-9006927 Signaling by Non-Receptor Tyrosine Kinases
R-HSA-162582 Signal Transduction

-  Other Names for This Gene
  Alternate Gene Symbols: KHDR3_HUMAN, NM_006558, NP_006549, O75525, Q6NUL8, Q9UPA8, SALP, SLM2
UCSC ID: uc003yuv.3
RefSeq Accession: NM_006558
Protein: O75525 (aka KHDR3_HUMAN)
CCDS: CCDS6374.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_006558.1
exon count: 9CDS single in 3' UTR: no RNA size: 1963
ORF size: 1041CDS single in intron: no Alignment % ID: 99.90
txCdsPredict score: 2194.00frame shift in genome: no % Coverage: 99.64
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# 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.