Free for academic non-profit institutions. Other users need a Commercial license

Aliases for KHDRBS3 Gene

Aliases for KHDRBS3 Gene

  • KH Domain Containing, RNA Binding, Signal Transduction Associated 3 2 3 5
  • Sam68-Like Mammalian Protein 2 3 4
  • RNA-Binding Protein T-Star 3 4
  • SLM-2 3 4
  • SALP 3 4
  • SLM2 3 4
  • Sam68-Like Phosphotyrosine Protein, T-STAR 3
  • Sam68-Like Phosphotyrosine Protein 4
  • T-STAR 3
  • Etoile 3
  • TSTAR 3
  • Etle 3

External Ids for KHDRBS3 Gene

Previous GeneCards Identifiers for KHDRBS3 Gene

  • GC08P135242
  • GC08P136579
  • GC08P136154
  • GC08P136440
  • GC08P136538
  • GC08P131785

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 Childhood Absence Epilepsy and Transvestism. Among its related pathways are Signaling by PTK6 and Signaling by GPCR. GO annotations related to this gene include nucleic acid binding and RNA 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

Regulatory Elements for KHDRBS3 Gene

Enhancers for KHDRBS3 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around KHDRBS3 on UCSC Golden Path with GeneCards custom track

Promoters for KHDRBS3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around KHDRBS3 on UCSC Golden Path with GeneCards custom track

Genomic Location for KHDRBS3 Gene

Chromosome:
8
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

Genes around KHDRBS3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KHDRBS3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KHDRBS3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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.

    Three dimensional structures from OCA and Proteopedia for KHDRBS3 Gene

    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 & Families for KHDRBS3 Gene

Protein Domains for KHDRBS3 Gene

Suggested Antigen Peptide Sequences for KHDRBS3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O75525

UniProtKB/Swiss-Prot:

KHDR3_HUMAN :
  • The proline-rich site binds the SH3 domain of the p85 subunit of PI3-kinase.
  • Belongs to the KHDRBS family.
Domain:
  • The proline-rich site binds the SH3 domain of the p85 subunit of PI3-kinase.
  • Contains 1 KH domain.
Family:
  • Belongs to the KHDRBS family.
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: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:

Animal Model Products

CRISPR Products

miRNA for KHDRBS3 Gene

miRTarBase miRNAs that target KHDRBS3

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets 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

No data available for Gene Ontology (GO) - Cellular Components for KHDRBS3 Gene

Pathways & Interactions for KHDRBS3 Gene

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

Pathways by source for KHDRBS3 Gene

Gene Ontology (GO) - Biological Process for KHDRBS3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007283 spermatogenesis TAS 10332027
genes like me logo Genes that share ontologies with KHDRBS3: view

No data available for SIGNOR curated interactions for KHDRBS3 Gene

Drugs & Compounds for KHDRBS3 Gene

(5) Drugs for KHDRBS3 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(1) Additional Compounds for KHDRBS3 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
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 differential expression in normal tissues according to GTEx for KHDRBS3 Gene

This gene is overexpressed in Testis (x5.1) and Brain - Frontal Cortex (BA9) (x4.2).

Protein differential expression in normal tissues from HIPED for KHDRBS3 Gene

This gene is overexpressed in Fetal Brain (25.3), Retina (7.2), Cervix (7.1), and Breast (6.3).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with KHDRBS3: view

Protein tissue co-expression partners for KHDRBS3 Gene

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for KHDRBS3 Gene

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
cow
(Bos Taurus)
Mammalia KHDRBS3 35
  • 92.58 (n)
  • 97.69 (a)
KHDRBS3 36
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia KHDRBS3 35
  • 91.91 (n)
  • 93.93 (a)
KHDRBS3 36
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Khdrbs3 35
  • 89.4 (n)
  • 97.11 (a)
Khdrbs3 16
Khdrbs3 36
  • 97 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia KHDRBS3 35
  • 100 (n)
  • 100 (a)
KHDRBS3 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Khdrbs3 35
  • 89.79 (n)
  • 95.95 (a)
oppossum
(Monodelphis domestica)
Mammalia KHDRBS3 36
  • 94 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KHDRBS3 36
  • 87 (a)
OneToOne
chicken
(Gallus gallus)
Aves KHDRBS3 35
  • 82.17 (n)
  • 90.7 (a)
KHDRBS3 36
  • 81 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia KHDRBS3 36
  • 86 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia khdrbs3 35
  • 73.31 (n)
  • 79.47 (a)
Str.11350 35
zebrafish
(Danio rerio)
Actinopterygii khdrbs3 35
  • 67.88 (n)
  • 74.45 (a)
khdrbs3 36
  • 73 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG10384 37
  • 62 (a)
CG3875 37
  • 46 (a)
CG3927 37
  • 48 (a)
CG4021 37
  • 45 (a)
qkr54B 37
  • 43 (a)
qkr58E-1 37
  • 52 (a)
qkr58E-2 37
  • 52 (a)
qkr58E-3 37
  • 48 (a)
qkr58E-1 35
  • 54.69 (n)
  • 53.29 (a)
CG10384 36
  • 22 (a)
ManyToMany
CG3927 36
  • 35 (a)
ManyToMany
CG4021 36
  • 31 (a)
ManyToMany
nsr 36
  • 30 (a)
ManyToMany
qkr54B 36
  • 33 (a)
ManyToMany
qkr58E-1 36
  • 30 (a)
ManyToMany
qkr58E-2 36
  • 28 (a)
ManyToMany
qkr58E-3 36
  • 33 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea B0280.17 36
  • 19 (a)
ManyToMany
F54D1.1 36
  • 21 (a)
ManyToMany
K07H8.9 36
  • 22 (a)
ManyToMany
Y57G11C.36 36
  • 22 (a)
ManyToMany
Y69A2AR.32 36
  • 22 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MSL5 36
  • 13 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.11338 36
  • 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

(3) 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
rs2317205 -- 135,571,316(+) GCTCT(C/G)TCTTC intron-variant
rs2317266 -- 135,473,703(+) GGAGC(A/T)TAGGG intron-variant
rs2317267 -- 135,473,854(+) TACTG(A/C)AGGAA intron-variant
rs2317268 -- 135,481,647(+) AGAAG(G/T)TGAAT intron-variant
rs2317269 -- 135,495,694(+) AATTC(C/G)TAAAG intron-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

Variation tolerance for KHDRBS3 Gene

Residual Variation Intolerance Score: 29% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.31; 6.80% of all genes are more intolerant (likely to be disease-causing)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links for KHDRBS3 Gene

Disorders for KHDRBS3 Gene

MalaCards: The human disease database

(4) MalaCards diseases for KHDRBS3 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
childhood absence epilepsy
  • absence seizure
transvestism
  • cross dresser
fetishism
extratemporal epilepsy
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for KHDRBS3

Genetic Association Database (GAD)
KHDRBS3
Human Genome Epidemiology (HuGE) Navigator
KHDRBS3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KHDRBS3
genes like me logo Genes that share disorders with KHDRBS3: view

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

Publications for KHDRBS3 Gene

  1. Salpalpha and Salpbeta, growth-arresting homologs of Sam68. (PMID: 10564820) Lee J.-S. … Burr J.G. (Gene 1999) 2 3 4 67
  2. 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 23
  3. 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 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
  5. 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 23

Products for KHDRBS3 Gene

Sources for KHDRBS3 Gene

Content