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Aliases for KHDRBS3 Gene

Aliases for KHDRBS3 Gene

  • KH Domain Containing, RNA Binding, Signal Transduction Associated 3 2 3
  • SALP 3 4 6
  • SLM2 3 4 6
  • Sam68-Like Mammalian Protein 2 3 4
  • RNA-Binding Protein T-Star 3 4
  • Etoile 3 6
  • TSTAR 3 6
  • SLM-2 3 4
  • KH Domain-Containing, RNA-Binding, Signal Transduction-Associated Protein 3 3
  • Sam68-Like Phosphotyrosine Protein, T-STAR 3
  • Sam68-Like Phosphotyrosine Protein 4
  • T-STAR 3
  • Etle 3

External Ids for KHDRBS3 Gene

Summaries for KHDRBS3 Gene

GeneCards Summary for KHDRBS3 Gene

KHDRBS3 (KH Domain Containing, RNA Binding, Signal Transduction Associated 3) is a Protein Coding gene. Diseases associated with KHDRBS3 include transvestism and extratemporal epilepsy. GO annotations related to this gene include RNA binding and SH3 domain binding. An important paralog of this gene is KHDRBS1.

UniProtKB/Swiss-Prot for KHDRBS3 Gene

  • 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.

Gene Wiki entry for KHDRBS3 Gene

No data available for Entrez Gene Summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KHDRBS3 Gene

Genomics for KHDRBS3 Gene

Genomic Location for KHDRBS3 Gene

Start:
135,457,457 bp from pter
End:
135,656,722 bp from pter
Size:
199,266 bases
Orientation:
Plus strand

Genomic View for KHDRBS3 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for KHDRBS3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KHDRBS3 Gene

Regulatory Elements for KHDRBS3 Gene

Proteins for KHDRBS3 Gene

  • Protein details for KHDRBS3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O75525-KHDR3_HUMAN
    Recommended name:
    KH domain-containing, RNA-binding, signal transduction-associated protein 3
    Protein Accession:
    O75525
    Secondary Accessions:
    • Q6NUL8
    • Q9UPA8

    Protein attributes for KHDRBS3 Gene

    Size:
    346 amino acids
    Molecular mass:
    38800 Da
    Quaternary structure:
    • 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.

    Alternative splice isoforms for KHDRBS3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for KHDRBS3 Gene

Proteomics data for KHDRBS3 Gene at MOPED

Post-translational modifications for KHDRBS3 Gene

  • Phosphorylated on tyrosine residues. Isoform 1 C-terminal region is tyrosine-rich, but isoform 2 lacking this C-terminal region is also tyrosine-phosphorylated.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for KHDRBS3 Gene

No data available for DME Specific Peptides for KHDRBS3 Gene

Domains for KHDRBS3 Gene

Protein Domains for KHDRBS3 Gene

InterPro:
ProtoNet:

UniProtKB/Swiss-Prot:

KHDR3_HUMAN
Domain:
  • The proline-rich site binds the SH3 domain of the p85 subunit of PI3-kinase.:
    • O75525
  • Contains 1 KH domain.:
    • O75525
Family:
  • Belongs to the KHDRBS family.:
    • O75525
genes like me logo Genes that share domains with KHDRBS3: view

No data available for Gene Families for KHDRBS3 Gene

Function for KHDRBS3 Gene

Molecular function for KHDRBS3 Gene

UniProtKB/Swiss-Prot 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.
UniProtKB/Swiss-Prot Induction: Induced in proteinuric diseases. Down-regulated in immortalized fibroblasts isolated after a proliferative crisis accompanied with massive cell death.

Gene Ontology (GO) - Molecular Function for KHDRBS3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003676 nucleic acid binding --
GO:0003723 RNA binding IDA 19561594
GO:0005515 protein binding IPI 16189514
GO:0017124 SH3 domain binding IEA --
GO:0044822 poly(A) RNA binding IDA 22681889
genes like me logo Genes that share ontologies with KHDRBS3: view
genes like me logo Genes that share phenotypes with KHDRBS3: view

Animal Models for KHDRBS3 Gene

MGI Knock Outs for KHDRBS3:

miRNA for KHDRBS3 Gene

miRTarBase miRNAs that target KHDRBS3

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for KHDRBS3 Gene

Localization for KHDRBS3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KHDRBS3 Gene

Nucleus. Note=Localized in a compartment adjacent to the nucleolus, but distinct from the peri-nucleolar one.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for KHDRBS3 Gene COMPARTMENTS Subcellular localization image for KHDRBS3 gene
Compartment Confidence
nucleus 5
extracellular 1

Gene Ontology (GO) - Cellular Components for KHDRBS3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus TAS 10332027
GO:0005654 nucleoplasm IDA --
genes like me logo Genes that share ontologies with KHDRBS3: view

Pathways for KHDRBS3 Gene

SuperPathways for KHDRBS3 Gene

No Data Available

Gene Ontology (GO) - Biological Process for KHDRBS3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0007283 spermatogenesis TAS 10332027
genes like me logo Genes that share ontologies with KHDRBS3: view

No data available for Pathways by source for KHDRBS3 Gene

Compounds for KHDRBS3 Gene

(6) Novoseek inferred chemical compound relationships for KHDRBS3 Gene

Compound -log(P) Hits PubMed IDs
deoxypyridinoline 50.2 1
hydroxyproline 36.5 1
triiodothyronine 33.5 1
calcium 8.35 3
alanine 7.64 2
genes like me logo Genes that share compounds with KHDRBS3: view

Transcripts for KHDRBS3 Gene

Unigene Clusters for KHDRBS3 Gene

KH domain containing, RNA binding, signal transduction associated 3:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for KHDRBS3 Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9a · 9b
SP1: - -
SP2: - - -
SP3: -
SP4:

Relevant External Links for KHDRBS3 Gene

GeneLoc Exon Structure for
KHDRBS3
ECgene alternative splicing isoforms for
KHDRBS3

Expression for KHDRBS3 Gene

mRNA expression in normal human tissues for KHDRBS3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for KHDRBS3 Gene

This gene is overexpressed in Testis (5.1) and Brain - Frontal Cortex (BA9) (4.2).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for KHDRBS3 Gene

SOURCE GeneReport for Unigene cluster for KHDRBS3 Gene Hs.444558

mRNA Expression by UniProt/SwissProt for KHDRBS3 Gene

O75525-KHDR3_HUMAN
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.
genes like me logo Genes that share expressions with KHDRBS3: view

Orthologs for KHDRBS3 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for KHDRBS3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KHDRBS3 36
  • 100 (n)
  • 100 (a)
KHDRBS3 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia KHDRBS3 36
  • 92.58 (n)
  • 97.69 (a)
KHDRBS3 37
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia KHDRBS3 36
  • 91.91 (n)
  • 93.93 (a)
KHDRBS3 37
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Khdrbs3 36
  • 89.4 (n)
  • 97.11 (a)
Khdrbs3 16
Khdrbs3 37
  • 97 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia KHDRBS3 37
  • 94 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KHDRBS3 37
  • 87 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Khdrbs3 36
  • 89.79 (n)
  • 95.95 (a)
chicken
(Gallus gallus)
Aves KHDRBS3 36
  • 82.17 (n)
  • 90.7 (a)
KHDRBS3 37
  • 81 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia KHDRBS3 37
  • 86 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia khdrbs3 36
  • 73.31 (n)
  • 79.47 (a)
Str.11350 36
zebrafish
(Danio rerio)
Actinopterygii khdrbs3 36
  • 67.88 (n)
  • 74.45 (a)
khdrbs3 37
  • 73 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG10384 37
  • 22 (a)
ManyToMany
CG3927 37
  • 35 (a)
ManyToMany
CG4021 37
  • 31 (a)
ManyToMany
nsr 37
  • 30 (a)
ManyToMany
qkr54B 37
  • 33 (a)
ManyToMany
qkr58E-1 36
  • 54.69 (n)
  • 53.29 (a)
qkr58E-1 37
  • 30 (a)
ManyToMany
qkr58E-2 37
  • 28 (a)
ManyToMany
qkr58E-3 37
  • 33 (a)
ManyToMany
CG10384 38
  • 62 (a)
qkr54B 38
  • 43 (a)
qkr58E-3 38
  • 48 (a)
CG3927 38
  • 48 (a)
CG3875 38
  • 46 (a)
qkr58E-1 38
  • 52 (a)
qkr58E-2 38
  • 52 (a)
CG4021 38
  • 45 (a)
worm
(Caenorhabditis elegans)
Secernentea B0280.17 37
  • 19 (a)
ManyToMany
F54D1.1 37
  • 21 (a)
ManyToMany
K07H8.9 37
  • 22 (a)
ManyToMany
Y57G11C.36 37
  • 22 (a)
ManyToMany
Y69A2AR.32 37
  • 22 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MSL5 37
  • 13 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.11338 37
  • 35 (a)
OneToMany
Species with no ortholog for KHDRBS3:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for KHDRBS3 Gene

ENSEMBL:
Gene Tree for KHDRBS3 (if available)
TreeFam:
Gene Tree for KHDRBS3 (if available)

Paralogs for KHDRBS3 Gene

Paralogs for KHDRBS3 Gene

Selected SIMAP similar genes for KHDRBS3 Gene using alignment to 9 proteins:

genes like me logo Genes that share paralogs with KHDRBS3: view

Variants for KHDRBS3 Gene

Sequence variations from dbSNP and Humsavar for KHDRBS3 Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type MAF
rs737062 -- 135,471,816(-) ACACA(C/G)AGAGC intron-variant
rs897411 -- 135,465,025(+) TGCGT(A/G)CCATA intron-variant
rs960730 -- 135,495,449(+) GGACT(C/T)AGAGG intron-variant
rs1011472 -- 135,497,056(+) GAGTC(C/T)AGACT intron-variant
rs1128066 -- 135,647,245(+) GGGCA(A/G)AAAAA utr-variant-3-prime, intron-variant, nc-transcript-variant

Structural Variations from Database of Genomic Variants (DGV) for KHDRBS3 Gene

Variant ID Type Subtype PubMed ID
esv29654 CNV Loss 19812545
nsv6412 CNV Insertion 18451855
esv2737635 CNV Deletion 23290073
esv2389682 CNV Deletion 18987734
dgv1274e201 CNV Deletion 23290073
nsv524132 CNV Loss 19592680
esv2737638 CNV Deletion 23290073
esv2737639 CNV Deletion 23290073
esv2737641 CNV Deletion 23290073
esv2737642 CNV Deletion 23290073
esv2737643 CNV Deletion 23290073
esv2737644 CNV Deletion 23290073
esv29678 CNV Loss 19812545
esv2663629 CNV Deletion 23128226
nsv831469 CNV Gain 17160897
esv2421926 CNV Deletion 20811451
nsv442124 CNV CNV 18776908
nsv515070 CNV Loss 21397061
esv7328 CNV Gain 19470904
esv2737645 CNV Deletion 23290073

Relevant External Links for KHDRBS3 Gene

HapMap Linkage Disequilibrium report
KHDRBS3

Disorders for KHDRBS3 Gene

(3) University of Copenhagen DISEASES for KHDRBS3 Gene

(2) Novoseek inferred disease relationships for KHDRBS3 Gene

Disease -log(P) Hits PubMed IDs
osteosarcoma 26.3 3
liver diseases 23 2

Relevant External Links for KHDRBS3

Genetic Association Database (GAD)
KHDRBS3
Human Genome Epidemiology (HuGE) Navigator
KHDRBS3
genes like me logo Genes that share disorders with KHDRBS3: view

No data available for UniProtKB/Swiss-Prot for KHDRBS3 Gene

Publications for KHDRBS3 Gene

  1. A role for KH domain proteins (Sam68-like mammalian proteins and quaking proteins) in the post-transcriptional regulation of HIV replication. (PMID: 11741900) Reddy T.R. … Wong-Staal F. (J. Biol. Chem. 2002) 3 4 23
  2. Characterization of Sam68-like mammalian proteins SLM-1 and SLM-2: SLM-1 is a Src substrate during mitosis. (PMID: 10077576) Di Fruscio M. … Richard S. (Proc. Natl. Acad. Sci. U.S.A. 1999) 3 4 23
  3. Sam68-like mammalian protein 2, identified by digital differential display as expressed by podocytes, is induced in proteinuria and involved in splice site selection of vascular endothelial growth factor. (PMID: 15901763) Cohen C.D. … Kretzler M. (J. Am. Soc. Nephrol. 2005) 3 4 23
  4. T-STAR/ETOILE: a novel relative of SAM68 that interacts with an RNA- binding protein implicated in spermatogenesis. (PMID: 10332027) Venables J.P. … Eperon I.C. (Hum. Mol. Genet. 1999) 2 3 4
  5. Salpalpha and Salpbeta, growth-arresting homologs of Sam68. (PMID: 10564820) Lee J.-S. … Burr J.G. (Gene 1999) 2 3 4

Products for KHDRBS3 Gene

Sources for KHDRBS3 Gene

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