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

Aliases for KHDRBS1 Gene

Aliases for KHDRBS1 Gene

  • KH Domain Containing, RNA Binding, Signal Transduction Associated 1 2 3 5
  • GAP-Associated Tyrosine Phosphoprotein P62 (Sam68) 2 3
  • P21 Ras GTPase-Activating Protein-Associated P62 3 4
  • Src-Associated In Mitosis 68 KDa Protein 3 4
  • Sam68 3 4
  • P68 3 4
  • GAP-Associated Tyrosine Phosphoprotein P62 4
  • P62 3

External Ids for KHDRBS1 Gene

Previous GeneCards Identifiers for KHDRBS1 Gene

  • GC01P032294
  • GC01P031467
  • GC01P031906
  • GC01P032150
  • GC01P032479
  • GC01P030596

Summaries for KHDRBS1 Gene

Entrez Gene Summary for KHDRBS1 Gene

  • This gene encodes a member of the K homology domain-containing, RNA-binding, signal transduction-associated protein family. The encoded protein appears to have many functions and may be involved in a variety of cellular processes, including alternative splicing, cell cycle regulation, RNA 3'-end formation, tumorigenesis, and regulation of human immunodeficiency virus gene expression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012]

GeneCards Summary for KHDRBS1 Gene

KHDRBS1 (KH Domain Containing, RNA Binding, Signal Transduction Associated 1) is a Protein Coding gene. Among its related pathways are Signaling by GPCR and Prolactin Signaling Pathway. GO annotations related to this gene include nucleic acid binding and identical protein binding. An important paralog of this gene is QKI.

UniProtKB/Swiss-Prot for KHDRBS1 Gene

  • Recruited and tyrosine phosphorylated by several receptor systems, for example the T-cell, leptin and insulin receptors. Once phosphorylated, functions as an adapter protein in signal transduction cascades by binding to SH2 and SH3 domain-containing proteins. Role in G2-M progression in the cell cycle. Represses CBP-dependent transcriptional activation apparently by competing with other nuclear factors for binding to CBP. Also acts as a putative regulator of mRNA stability and/or translation rates and mediates mRNA nuclear export. Positively regulates the association of constitutive transport element (CTE)-containing mRNA with large polyribosomes and translation initiation. According to some authors, is not involved in the nucleocytoplasmic export of unspliced (CTE)-containing RNA species according to (PubMed:22253824).

  • Isoform 3, which is expressed in growth-arrested cells only, inhibits S phase.

Gene Wiki entry for KHDRBS1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KHDRBS1 Gene

Genomics for KHDRBS1 Gene

Regulatory Elements for KHDRBS1 Gene

Promoters for KHDRBS1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around KHDRBS1 on UCSC Golden Path with GeneCards custom track

Genomic Location for KHDRBS1 Gene

Chromosome:
1
Start:
32,013,694 bp from pter
End:
32,060,859 bp from pter
Size:
47,166 bases
Orientation:
Plus strand

Genomic View for KHDRBS1 Gene

Genes around KHDRBS1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KHDRBS1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KHDRBS1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KHDRBS1 Gene

Proteins for KHDRBS1 Gene

  • Protein details for KHDRBS1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q07666-KHDR1_HUMAN
    Recommended name:
    KH domain-containing, RNA-binding, signal transduction-associated protein 1
    Protein Accession:
    Q07666
    Secondary Accessions:
    • D3DPP3
    • Q6PJX7
    • Q8NB97
    • Q99760

    Protein attributes for KHDRBS1 Gene

    Size:
    443 amino acids
    Molecular mass:
    48227 Da
    Quaternary structure:
    • Self-associates to form homooligomers when bound to RNA, oligomerization appears to be limited when binding to proteins. Interacts with CBL, KHDRBS3, LCK, GRB2, JAK3, PIK3R1, PLCG1, PTPN6, RASA1, RBMY1A1 and STAT3. Interacts with PRMT1. Binds the WW domains of WBP4/FBP21, FNBP4/FBP30 and the SH3 domain of FYN through the Arg/Gly-rich-flanked Pro-rich regions (By similarity). Forms a complex with ILF2, ILF3, YLPM1, RBMX, NCOA5 and PPP1CA. Interacts with PTK6 (via SH3 and SH2 domains). Does not interact with TPR.
    SequenceCaution:
    • Sequence=AAH10132.1; Type=Miscellaneous discrepancy; Note=Intron retention.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for KHDRBS1 Gene

    Alternative splice isoforms for KHDRBS1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for KHDRBS1 Gene

Proteomics data for KHDRBS1 Gene at MOPED

Post-translational modifications for KHDRBS1 Gene

  • Acetylated. Positively correlates with ability to bind RNA.
  • Arginine methylation is required for nuclear localization. Also can affect interaction with other proteins. Inhibits interaction with Src-like SH3 domains, but not interaction with WW domains of WBP4/FBP21 AND FNBP4/FBP30.
  • Tyrosine phosphorylated by several non-receptor tyrosine kinases, LCK, FYN and JAK3. Negatively correlates with ability to bind RNA but required for many interactions with proteins. Phosphorylation by PTK6 negatively regulates its RNA binding ability. Phosphorylation by PTK6 at Tyr-440 dictates the nulear localization of KHDRBS1.
  • Ubiquitination at Lys 185 and Lys 432
  • Modification sites at PhosphoSitePlus

Other Protein References for KHDRBS1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for KHDRBS1 (KHDRBS1)
  • Cloud-Clone Corp. Antibodies for KHDRBS1

No data available for DME Specific Peptides for KHDRBS1 Gene

Domains & Families for KHDRBS1 Gene

Suggested Antigen Peptide Sequences for KHDRBS1 Gene

Graphical View of Domain Structure for InterPro Entry

Q07666

UniProtKB/Swiss-Prot:

KHDR1_HUMAN :
  • The KH domain is required for binding to RNA.
  • Belongs to the KHDRBS family.
Domain:
  • The KH domain is required for binding to RNA.
  • The Pro-rich domains are flanked by Arg/Gly-rich motifs which can be asymmetric dimethylated on arginine residues to give the DMA/Gly-rich regions. Selective methylation on these motifs can modulate protein-protein interactions (By similarity).
  • Contains 1 KH domain.
Family:
  • Belongs to the KHDRBS family.
genes like me logo Genes that share domains with KHDRBS1: view

No data available for Gene Families for KHDRBS1 Gene

Function for KHDRBS1 Gene

Molecular function for KHDRBS1 Gene

UniProtKB/Swiss-Prot Function:
Recruited and tyrosine phosphorylated by several receptor systems, for example the T-cell, leptin and insulin receptors. Once phosphorylated, functions as an adapter protein in signal transduction cascades by binding to SH2 and SH3 domain-containing proteins. Role in G2-M progression in the cell cycle. Represses CBP-dependent transcriptional activation apparently by competing with other nuclear factors for binding to CBP. Also acts as a putative regulator of mRNA stability and/or translation rates and mediates mRNA nuclear export. Positively regulates the association of constitutive transport element (CTE)-containing mRNA with large polyribosomes and translation initiation. According to some authors, is not involved in the nucleocytoplasmic export of unspliced (CTE)-containing RNA species according to (PubMed:22253824).
UniProtKB/Swiss-Prot Function:
Isoform 3, which is expressed in growth-arrested cells only, inhibits S phase.

Gene Ontology (GO) - Molecular Function for KHDRBS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003676 nucleic acid binding IEA --
GO:0003677 DNA binding TAS 1374686
GO:0005515 protein binding IPI 7537265
GO:0008143 poly(A) binding IDA 21984414
GO:0042802 identical protein binding IPI 20186123
genes like me logo Genes that share ontologies with KHDRBS1: view
genes like me logo Genes that share phenotypes with KHDRBS1: view

Animal Models for KHDRBS1 Gene

MGI Knock Outs for KHDRBS1:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for KHDRBS1 Gene

Localization for KHDRBS1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KHDRBS1 Gene

Nucleus. Membrane.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for KHDRBS1 Gene COMPARTMENTS Subcellular localization image for KHDRBS1 gene
Compartment Confidence
nucleus 5
plasma membrane 3
cytosol 2
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for KHDRBS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with KHDRBS1: view

Pathways & Interactions for KHDRBS1 Gene

genes like me logo Genes that share pathways with KHDRBS1: view

Pathways by source for KHDRBS1 Gene

1 BioSystems pathway for KHDRBS1 Gene

SIGNOR curated interactions for KHDRBS1 Gene

Is activated by:
Other effect:

Gene Ontology (GO) - Biological Process for KHDRBS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000086 G2/M transition of mitotic cell cycle ISS --
GO:0006397 mRNA processing TAS 1374686
GO:0007165 signal transduction TAS 9013542
GO:0045948 positive regulation of translational initiation IDA 21613532
GO:0046831 regulation of RNA export from nucleus ISS --
genes like me logo Genes that share ontologies with KHDRBS1: view

Drugs & Compounds for KHDRBS1 Gene

(9) Drugs for KHDRBS1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(3) Additional Compounds for KHDRBS1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with KHDRBS1: view

Transcripts for KHDRBS1 Gene

Unigene Clusters for KHDRBS1 Gene

KH domain containing, RNA binding, signal transduction associated 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for KHDRBS1 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9a · 9b · 9c · 9d · 9e ^ 10 ^ 11
SP1: - - -
SP2: -
SP3:
SP4: - -
SP5: - - - - -

Relevant External Links for KHDRBS1 Gene

GeneLoc Exon Structure for
KHDRBS1
ECgene alternative splicing isoforms for
KHDRBS1

Expression for KHDRBS1 Gene

mRNA expression in normal human tissues for KHDRBS1 Gene

Protein differential expression in normal tissues from HIPED for KHDRBS1 Gene

This gene is overexpressed in Lymph node (6.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for KHDRBS1 Gene



SOURCE GeneReport for Unigene cluster for KHDRBS1 Gene Hs.445893

mRNA Expression by UniProt/SwissProt for KHDRBS1 Gene

Q07666-KHDR1_HUMAN
Tissue specificity: Ubiquitously expressed in all tissue examined. Isoform 1 is expressed at lower levels in brain, skeletal muscle, and liver whereas isoform 3 is intensified in skeletal muscle and in liver.
genes like me logo Genes that share expression patterns with KHDRBS1: view

Protein tissue co-expression partners for KHDRBS1 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for KHDRBS1 Gene

Orthologs for KHDRBS1 Gene

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

Orthologs for KHDRBS1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia KHDRBS1 35
  • 94.66 (n)
  • 99.55 (a)
KHDRBS1 36
  • 100 (a)
OneToOne
dog
(Canis familiaris)
Mammalia KHDRBS1 35
  • 94.88 (n)
  • 99.76 (a)
KHDRBS1 36
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Khdrbs1 35
  • 90.52 (n)
  • 94.36 (a)
Khdrbs1 16
Khdrbs1 36
  • 94 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia KHDRBS1 35
  • 99.92 (n)
  • 100 (a)
KHDRBS1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Khdrbs1 35
  • 90.59 (n)
  • 94.36 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 90 (a)
OneToMany
-- 36
  • 90 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia KHDRBS1 36
  • 78 (a)
OneToOne
chicken
(Gallus gallus)
Aves KHDRBS1 35
  • 78.3 (n)
  • 87.66 (a)
KHDRBS1 36
  • 84 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia KHDRBS1 36
  • 86 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia khdrbs1 35
  • 72.25 (n)
  • 79.19 (a)
Str.20538 35
African clawed frog
(Xenopus laevis)
Amphibia LOC398660 35
zebrafish
(Danio rerio)
Actinopterygii -- 35
khdrbs1b 35
  • 65.11 (n)
  • 67.64 (a)
khdrbs1a 36
  • 61 (a)
OneToMany
khdrbs1b 36
  • 66 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG10384 37
  • 59 (a)
CG3875 37
  • 41 (a)
CG3927 37
  • 43 (a)
CG4021 37
  • 40 (a)
qkr54B 37
  • 51 (a)
qkr58E-1 37
  • 48 (a)
qkr58E-2 37
  • 36 (a)
qkr58E-3 37
  • 41 (a)
CG10384 36
  • 22 (a)
ManyToMany
CG3927 36
  • 34 (a)
ManyToMany
CG4021 36
  • 30 (a)
ManyToMany
nsr 36
  • 29 (a)
ManyToMany
qkr54B 36
  • 34 (a)
ManyToMany
qkr58E-1 36
  • 33 (a)
ManyToMany
qkr58E-2 36
  • 28 (a)
ManyToMany
qkr58E-3 36
  • 31 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea B0280.17 36
  • 18 (a)
ManyToMany
F54D1.1 36
  • 20 (a)
ManyToMany
K07H8.9 36
  • 25 (a)
ManyToMany
Y57G11C.36 36
  • 21 (a)
ManyToMany
Y69A2AR.32 36
  • 23 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MSL5 36
  • 15 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.11338 36
  • 35 (a)
OneToMany
Species with no ortholog for KHDRBS1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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 KHDRBS1 Gene

ENSEMBL:
Gene Tree for KHDRBS1 (if available)
TreeFam:
Gene Tree for KHDRBS1 (if available)

Paralogs for KHDRBS1 Gene

Paralogs for KHDRBS1 Gene

(2) SIMAP similar genes for KHDRBS1 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with KHDRBS1: view

Variants for KHDRBS1 Gene

Sequence variations from dbSNP and Humsavar for KHDRBS1 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs482923 -- 32,040,591(+) TAACC(A/C/G/T)AACCT intron-variant
rs508433 -- 32,021,313(+) TAGCC(A/C)ATATT intron-variant
rs550411 -- 32,046,164(-) GATAA(A/G)GGaca intron-variant
rs514219 -- 32,049,322(-) atccc(A/C)aactt intron-variant
rs601152 -- 32,049,227(-) aatac(A/C)aaaat intron-variant

Structural Variations from Database of Genomic Variants (DGV) for KHDRBS1 Gene

Variant ID Type Subtype PubMed ID
nsv834591 CNV Loss 17160897

Variation tolerance for KHDRBS1 Gene

Residual Variation Intolerance Score: 18.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.53; 11.41% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for KHDRBS1 Gene

HapMap Linkage Disequilibrium report
KHDRBS1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KHDRBS1 Gene

Disorders for KHDRBS1 Gene

Relevant External Links for KHDRBS1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KHDRBS1

No disorders were found for KHDRBS1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for KHDRBS1 Gene

Publications for KHDRBS1 Gene

  1. Molecular cloning and nucleic acid binding properties of the GAP- associated tyrosine phosphoprotein p62. (PMID: 1374686) Wong G. … McCormick F. (Cell 1992) 2 3 4 23 67
  2. Alternative splicing of the cyclin D1 proto-oncogene is regulated by the RNA-binding protein Sam68. (PMID: 20028857) Paronetto M.P. … Sette C. (Cancer Res. 2010) 3 23
  3. The splicing regulator Sam68 binds to a novel exonic splicing silencer and functions in SMN2 alternative splicing in spinal muscular atrophy. (PMID: 20186123) Pedrotti S. … Sette C. (EMBO J. 2010) 3 23
  4. Sam68 sequestration and partial loss of function are associated with splicing alterations in FXTAS patients. (PMID: 20186122) Sellier C. … Charlet-Berguerand N. (EMBO J. 2010) 3 23
  5. Mapping of determinants involved in the stimulation of HIV-1 expression by Sam68. (PMID: 19091369) McLaren M. … Cochrane A. (Virology 2009) 3 23

Products for KHDRBS1 Gene

Sources for KHDRBS1 Gene

Back to Top

Content