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KHDRBS1 Gene

protein-coding   GIFtS: 60
GCID: GC01P032479

KH Domain Containing, RNA Binding, Signal Transduction Associated...

  Search for KHDRBS1
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
KH Domain Containing, RNA Binding, Signal Transduction Associated 11 2     p682 3
GAP-Associated Tyrosine Phosphoprotein P62 (Sam68)1 2     SAM683 5
Src-Associated In Mitosis 68 KDa Protein2 3     KH Domain-Containing, RNA-Binding, Signal Transduction-Associated Protein
12
Sam682 3     p622
P21 Ras GTPase-Activating Protein-Associated P622 3     GAP-Associated Tyrosine Phosphoprotein P623

External Ids:    HGNC: 181161   Entrez Gene: 106572   Ensembl: ENSG000001217747   OMIM: 6024895   UniProtKB: Q076663   

Export aliases for KHDRBS1 gene to outside databases

Previous GC identifers: GC01P032294 GC01P031467 GC01P031906 GC01P031981 GC01P032150 GC01P030596


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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. GO annotations related to this gene include RNA binding and protein complex binding. An important paralog of this gene is KHDRBS2.

UniProtKB/Swiss-Prot: KHDR1_HUMAN, Q07666
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)
Function: Isoform 3, which is expressed in growth-arrested cells only, inhibits S phase

Gene Wiki entry for KHDRBS1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000001.10  NC_018912.2  NT_032977.10  
Regulatory elements:
   Regulatory transcription factor binding sites in the KHDRBS1 gene promoter:
         N-Myc   c-Fos   STAT1   AP-1   Sp1   HFH-1   STAT3   c-Jun   FOXL1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): KHDRBS1 promoter sequence
   Search Chromatin IP Primers for KHDRBS1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat KHDRBS1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1p32   Ensembl cytogenetic band:  1p35.1   HGNC cytogenetic band: 1p32

KHDRBS1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KHDRBS1 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P032479:  view genomic region     (about GC identifiers)

Start:
32,479,430 bp from pter      End:
32,526,451 bp from pter
Size:
47,022 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: KHDR1_HUMAN, Q07666 (See protein sequence)
Recommended Name: KH domain-containing, RNA-binding, signal transduction-associated protein 1  
Size: 443 amino acids; 48227 Da
Subunit: 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
Developmental stage: Isoform 3 is only expressed in growth-arrested cells
Sequence caution: Sequence=AAH10132.1; Type=Miscellaneous discrepancy; Note=Intron retention;
2 PDB 3D structures from and Proteopedia for KHDRBS1:
2XA6 (3D)        3QHE (3D)    
Secondary accessions: D3DPP3 Q6PJX7 Q8NB97 Q99760
Alternative splicing: 3 isoforms:  Q07666-1   Q07666-2   Q07666-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for KHDRBS1: NX_Q07666

Explore proteomics data for KHDRBS1 at MOPED

Post-translational modifications: 

  • 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 KHDRBS11
  • Acetylated. Positively correlates with ability to bind RNA1
  • 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/FBP301
  • Arg-291, Arg-331 and Arg-346 are found to be also dimethylated, probably to asymmetric dimethylarginine1
  • Ubiquitination2 at Lys165, Lys169, Lys175, Lys185, Lys432
  • Modification sites at PhosphoSitePlus

  • See KHDRBS1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001258807.1  NP_006550.1  

    ENSEMBL proteins: 
     ENSP00000313829   ENSP00000417731  

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    Cloud-Clone Corp. Proteins for KHDRBS1

     
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    KHDRBS1 Assay Products:

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    Cloud-Clone Corp. ELISAs for KHDRBS1
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    Search eBioscience for ELISAs for KHDRBS1 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    2 InterPro protein domains:
     IPR004087 KH_dom
     IPR004088 KH_dom_type_1

    Graphical View of Domain Structure for InterPro Entry Q07666

    ProtoNet protein and cluster: Q07666

    3 Blocks protein domains:
    IPB000515 Binding-protein-dependent transport systems inner membrane component
    IPB004087 KH domain
    IPB004088 KH


    UniProtKB/Swiss-Prot: KHDR1_HUMAN, Q07666
    Domain: The KH domain is required for binding to RNA (By similarity)
    Domain: 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)
    Similarity: Belongs to the KHDRBS family
    Similarity: Contains 1 KH domain


    Find genes that share domains with KHDRBS1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: KHDR1_HUMAN, Q07666
    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)
    Function: Isoform 3, which is expressed in growth-arrested cells only, inhibits S phase

         Gene Ontology (GO): Selected molecular function terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding TAS1374686
    GO:0003723RNA binding IDA1374686
    GO:0005070SH3/SH2 adaptor activity IPI9045636
    GO:0005515protein binding IPI10913193
    GO:0008143poly(A) binding IDA--
         
    Find genes that share ontologies with KHDRBS1           About GenesLikeMe


    Phenotypes:
         8 MGI mutant phenotypes (inferred from 1 allele(MGI details for Khdrbs1):
     adipose tissue  behavior/neurological  growth/size/body  homeostasis/metabolism  mortality/aging 
     reproductive system  skeleton  tumorigenesis 

    Find genes that share phenotypes with KHDRBS1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Khdrbs1tm1Rchd for KHDRBS1

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for KHDRBS1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for KHDRBS1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for KHDRBS1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for KHDRBS1

    miRNA
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    miRTarBase miRNAs that target KHDRBS1:
    hsa-mir-18a-3p (MIRT040829), hsa-mir-27b-3p (MIRT046222), hsa-mir-34a-5p (MIRT047357), hsa-mir-92a-3p (MIRT049690), hsa-mir-615-3p (MIRT040001), hsa-mir-877-3p (MIRT037105)

    Block miRNA regulation of human, mouse, rat KHDRBS1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate KHDRBS1 (see all 31):
    hsa-miR-607 hsa-miR-185* hsa-miR-4288 hsa-miR-300 hsa-miR-632 hsa-miR-4275 hsa-miR-548m hsa-miR-204
    SwitchGear 3'UTR luciferase reporter plasmidKHDRBS1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat KHDRBS1

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KHDRBS1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    KHDR1_HUMAN, Q07666: Nucleus. Membrane
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol2
    plasma membrane2
    mitochondrion1
    peroxisome1

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm IEA--
    GO:0016020membrane IDA1374686
    GO:0070618Grb2-Sos complex IEA--

    Find genes that share ontologies with KHDRBS1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for KHDRBS1 About    
    See pathways by source

    SuperPathContained pathways About
    1Prolactin Signaling Pathway
    Leptin signaling pathway0.35
    2Translational Control
    Translational Control


    Find genes that share SuperPaths with KHDRBS1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Cell Signaling Technology (CST) Pathway for KHDRBS1
        Translational Control

    1 BioSystems Pathway for KHDRBS1
        Leptin signaling pathway



        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for KHDRBS1
    Interactions:

        GeneGlobe Interaction Network for KHDRBS1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for KHDRBS1 (Q076661, 2, 3 ENSP000003138294) via UniProtKB, MINT, STRING, and/or I2D (see all 971)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    VAV1P154981, 2, 3, ENSP000003022694EBI-1364,EBI-625518 MINT-7300651 MINT-7300587 MINT-7300628 I2D: score=1 STRING: ENSP00000302269
    HCKP086311, 2, 3, ENSP000003650124EBI-1364,EBI-346340 MINT-8374661 MINT-7051501 I2D: score=4 STRING: ENSP00000365012
    SMARCA2P515311, 2, 3, ENSP000002657734EBI-1364,EBI-679562 MINT-7945693 I2D: score=3 STRING: ENSP00000265773
    STAT3P407631, 2, 3, ENSP000002646574EBI-1364,EBI-518675 MINT-7947479 I2D: score=3 STRING: ENSP00000264657
    HNRNPKP619782, 3, ENSP000003654394MINT-7945693 MINT-8338740 MINT-7947479 I2D: score=3 STRING: ENSP00000365439
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 13):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000086G2/M transition of mitotic cell cycle ISS--
    GO:0006351transcription, DNA-templated IEA--
    GO:0006397mRNA processing TAS1374686
    GO:0007050cell cycle arrest TAS9013542
    GO:0007165signal transduction TAS9013542

    Find genes that share ontologies with KHDRBS1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Enzo Life Sciences drugs & compounds for KHDRBS1
      Browse compounds at ApexBio 

    Browse Tocris compounds for KHDRBS1 (KHDR1)

    Selected Novoseek inferred chemical compound relationships for KHDRBS1 gene (see all 12)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    ucs15a 85.3 2 11960376 (2)
    tyrosine 70.7 103 15619005 (5), 16045742 (4), 7530715 (4), 9201297 (3) (see all 45)
    olomoucine 56.9 2 9315091 (1)
    leptomycin b 54.7 1 10371501 (1)
    radicicol 54.5 1 7624124 (1)
    poly u 38.8 2 11748924 (1), 15021911 (1)
    arginine 35.2 11 17764653 (5), 16568089 (1), 1385407 (1), 1374686 (1) (see all 5)
    proline 27.4 7 10467411 (1), 16996007 (1)
    threonine 4.96 4 9315091 (3)
    atp 0 3 8007973 (1)



    Find genes that share compounds with KHDRBS1           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for KHDRBS1 gene (2 alternative transcripts): 
    NM_001271878.1  NM_006559.2  

    Unigene Cluster for KHDRBS1:

    KH domain containing, RNA binding, signal transduction associated 1
    Hs.445893  [show with all ESTs]
    Unigene Representative Sequence: NR_073498
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000327300(uc001bua.1 uc001bub.3) ENST00000307714 ENST00000492989
    ENST00000484270(uc001buc.1)
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    hsa-miR-607 hsa-miR-185* hsa-miR-4288 hsa-miR-300 hsa-miR-632 hsa-miR-4275 hsa-miR-548m hsa-miR-204
    SwitchGear 3'UTR luciferase reporter plasmidKHDRBS1 3' UTR sequence
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      QuantiTect SYBR Green Assays in human, mouse, rat KHDRBS1
      QuantiFast Probe-based Assays in human, mouse, rat KHDRBS1

    Additional mRNA sequence: 

    AK091346.1 AK293369.1 AK303218.1 AK312916.1 BC000717.1 BC010132.2 BC019109.2 M88108.1 
    NR_073498.1 NR_073499.1 U78971.1 

    20 DOTS entries:

    DT.97857075  DT.452318  DT.95172153  DT.100886780  DT.95172152  DT.100031356  DT.121374044  DT.95247176 
    DT.121374150  DT.92460167  DT.100886776  DT.95172151  DT.100886783  DT.100886790  DT.91865132  DT.100886777 
    DT.121374029  DT.121374041  DT.100886778  DT.86852827 

    Selected AceView cDNA sequences (see all 758):

    AU158138 BM458731 AW009936 BE858168 AA406229 AI734907 AA776486 AI433005 
    BU632073 U78971 AA431785 CR606103 BU076393 BM761313 BQ689138 AW157277 
    BQ883410 AL537904 BC019109 BX388035 AA995783 CA848956 BQ434555 BQ005760 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for KHDRBS1    About this scheme

    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:                                            -     -     -     -     -                                             


    ECgene alternative splicing isoforms for KHDRBS1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    KHDRBS1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGTAAGTCTG
    KHDRBS1 Expression
    About this image


    KHDRBS1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 17) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Ovarian Mesenchymal Stroma Cells Ovary Interstitium
             Oviduct
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Bone (Muscoskeletal System)
             Bone Marrow
    KHDRBS1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    KHDRBS1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.445893

    UniProtKB/Swiss-Prot: KHDR1_HUMAN, Q07666
    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

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for KHDRBS1 gene from Selected species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Khdrbs11 , 5 KH domain containing, RNA binding, signal transduction more1, 5 90.52(n)1
    94.36(a)1
      4 (63.34 cM)5
    202181  NM_011317.41  NP_035447.31 
     1297031645 
    chicken
    (Gallus gallus)
    Aves KHDRBS11 KH domain containing, RNA binding, signal transduction more 78.3(n)
    87.66(a)
      374071  NM_204230.1  NP_989561.1 
    lizard
    (Anolis carolinensis)
    Reptilia KHDRBS16
    KH domain containing, RNA binding, signal transduc...
    86(a)
    1 ↔ 1
    GL343308.1(1417713-1428628)
    African clawed frog
    (Xenopus laevis)
    Amphibia LOC3986602 KH domain RNA-binding protein Sam68 76.19(n)    AY260734.1 
    zebrafish
    (Danio rerio)
    Actinopterygii AF211852.12   -- 74.7(n)   30082  AF211852.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG103843   -- 59(a)
    (best of 8)
      58E2   --
    worm
    (Caenorhabditis elegans)
    Secernentea K07H8.96
    Y69A2AR.326
    (see all 5)
    Protein Y69A2AR.32, isoform a
    (see all 5)
    25(a)
    23(a)
    (see all 5)
    many ↔ many
    many ↔ many
    (see all 5)
    IV(8285175-8286470) WBGene00019509
    IV(2610422-2612442) WBGene00022101
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes MSL56
    Component of the commitment complex, which defines...
    15(a)
    1 → many
    XII(380822-382252) YLR116W


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for KHDRBS1 gene
    KHDRBS22  SF12  KHDRBS32  QKI2  
    2 SIMAP similar genes for KHDRBS1 using alignment to 2 protein entries:     KHDR1_HUMAN (see all proteins):
    KHDRBS2    KHDRBS3

    Find genes that share paralogs with KHDRBS1           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for KHDRBS1 (see all 923)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1849639051,2
    --32477306(+) CTTTCC/TTTCTT 4 -- us2k10--------
    rs1494865221,2
    --32477337(+) AGTCTC/TGCACT 4 -- us2k10--------
    rs776265041,2
    C,F--32477783(+) TCCAAA/GTAAAC 4 -- us2k11Minor allele frequency- G:0.03NA 120
    rs2009181411,2
    --32477827(+) GTCTC-/GCTCTG 4 -- us2k10--------
    rs66789851,2
    C,F,A--32477865(+) atctcG/Agctca 4 -- us2k11Minor allele frequency- A:0.50WA 2
    rs1893758721,2
    --32477957(+) CACCCA/GGCTAA 4 -- us2k10--------
    rs614229531,2
    --32478094(+) CCGGGC/TGGAAA 4 -- us2k10--------
    rs1809165911,2
    --32478240(+) GACTTC/TTGAAA 4 -- us2k10--------
    rs1415630691,2
    --32478391(+) GGACCA/TAAGGC 4 -- us2k10--------
    rs1461786261,2
    --32478455(+) CTATGA/TACCTT 4 -- us2k10--------

    HapMap Linkage Disequilibrium report for KHDRBS1 (32479430 - 32526451 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for KHDRBS1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv834591CNV Loss17160897

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing KHDRBS1
    DNA2.0 Custom Variant and Variant Library Synthesis for KHDRBS1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 602489    OMIM disorders: --


    Find genes that share disorders with KHDRBS1           About GenesLikeMe

    7 Novoseek inferred disease relationships for KHDRBS1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    immunodeficiency 24.1 3 11741900 (1), 11483766 (1), 10951562 (1)
    prostate cancer 8.89 9 17237817 (3), 20028857 (2)
    aids 0 1 10871864 (1)
    breast cancer 0 7 7501973 (2), 16179349 (2), 18781181 (1)
    tumors 0 15 8104427 (4), 7501973 (2), 16179349 (2), 15039213 (2) (see all 8)
    carcinoma 0 1 7501973 (1)
    cancer 0 13 15972854 (4), 17927519 (3), 10473643 (2), 18481990 (1) (see all 5)


    Export disorders for KHDRBS1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for KHDRBS1 gene, integrated from 10 sources (see all 250):
    (articles sorted by number of sources associating them with KHDRBS1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular cloning and nucleic acid binding properties of the GAP- associated tyrosine phosphoprotein p62. (PubMed id 1374686)1, 2, 3, 9 Wong G....McCormick F. (Cell 1992)
    2. Tyrosine phosphorylation of sam68 by breast tumor kinase regulates intranuclear localization and cell cycle progression. (PubMed id 16179349)1, 2, 9 Lukong K.E.... Richard S. (J. Biol. Chem. 2005)
    3. A role for Sam68 in cell cycle progression antagonized by a spliced variant within the KH domain. (PubMed id 9013542)1, 2, 9 Barlat I....Schweighoffer F. (J. Biol. Chem. 1997)
    4. The RNA binding protein Sam68 is acetylated in tumor cell lines, and its acetylation correlates with enhanced RNA binding activity. (PubMed id 15021911)1, 2, 9 Babic I.... Fujita D.J. (Oncogene 2004)
    5. Interaction between Sam68 and Src family tyrosine kinases, Fyn and Lck, in T cell receptor signaling. (PubMed id 9045636)1, 2, 9 Fusaki N.... Fujisawa J. (J. Biol. Chem. 1997)
    6. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (Nature 2006)
    7. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (Cell 2006)
    8. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    9. Identifying and quantifying in vivo methylation sites by heavy methyl SILAC. (PubMed id 15782174)1, 2 Ong S.E.... Mann M. (Nat. Methods 2004)
    10. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 10657 HGNC: 18116 AceView: KHDRBS1 Ensembl:ENSG00000121774 euGenes: HUgn10657
    ECgene: KHDRBS1 H-InvDB: KHDRBS1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for KHDRBS1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for KHDRBS1 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for KHDRBS1 gene:
    Search GeneIP for patents involving KHDRBS1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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