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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

KHDRBS1 Gene

protein-coding   GIFtS: 59
GCID: GC01P032479

KH domain containing, RNA binding, signal transduction associated...
 Explore 19 diseases affiliated with
KHDRBS1 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for KHDRBS1    

Aliases
for KHDRBS1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
KH Domain Containing, RNA Binding, Signal Transduction Associated 11 2     FLJ340271
Sam681 2 3     GAP-Associated Tyrosine Phosphoprotein P62 (Sam68)2
P621     KH Domain-Containing, RNA-Binding, Signal Transduction-Associated Protein 12
Src-Associated In Mitosis 68 KDa Protein2 3     SAM683
P21 Ras GTPase-Activating Protein-Associated P622 3     GAP-Associated Tyrosine Phosphoprotein P623
P681     

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


Summaries
for KHDRBS1 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for KHDRBS1:
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)

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
Function: Isoform 3, which is expressed in growth-arrested cells only, inhibits S phase

Gene Wiki entry for KHDRBS1


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NC_018912.1  NT_032977.9  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for KHDRBS1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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

Proteins
for KHDRBS1 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
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 via with
PTK6 (via SH3 and SH2 domains)
Subcellular location: Nucleus. Membrane
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

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
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q07666

    • KHDRBS1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

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

    ENSEMBL proteins: 
     ENSP00000313829   ENSP00000417731  

    Human Recombinant Protein Products: 
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    Novus Biologicals KHDRBS1 Proteins
    Novus Biologicals KHDRBS1 Lysates
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    Uscn Proteins for KHDRBS1

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA1374686
    GO:0005737cytoplasm IEA--
    GO:0016020membrane IDA1374686
    GO:0070618Grb2-Sos complex IEA--


    KHDRBS1 for ontologies           About GeneDecksing



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    Abcam antibodies for KHDRBS1 
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    ThermoFisher Antibodies for KHDRBS1

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    Uscn ELISAs and CLIAs for KHDRBS1

    Protein Domains /
    Families
    for KHDRBS1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    KHDRBS1 for domains           About GeneDecksing

    2 InterPro domains/families:
     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 families:
    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


    Function
    for KHDRBS1 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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
    Function: Isoform 3, which is expressed in growth-arrested cells only, inhibits S phase

    miRNA
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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
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    Inhib. RNA
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    Gene Editing
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    Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6):    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 IPI--
    GO:0017124SH3 domain binding IEA--


    KHDRBS1 for ontologies           About GeneDecksing


    Animal Models:
         Mouse knock-out Khdrbs1tm1Rchd for KHDRBS1
         8 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Khdrbs1):
     adipose tissue  behavior/neurological  growth/size  homeostasis/metabolism  mortality/aging 
     reproductive system  skeleton  tumorigenesis 

    KHDRBS1 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for KHDRBS1 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Development_Prolactin receptor signaling
    		Leptin signaling pathway0.32


    1 BioSystems Pathway for KHDRBS1 
        Leptin signaling pathway


    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for KHDRBS1

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

    5/916 Interacting proteins for KHDRBS1 (Q076661, 2, 3 ENSP000003138294) via UniProtKB, MINT, STRING, and/or I2D (see all 916)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    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
    VAV1P154982, 3, ENSP000003022694MINT-7300651 MINT-7300587 MINT-7300628 I2D: score=1 STRING: ENSP00000302269
    About this table

    Gene Ontology (GO): 5/12 biological process terms (GO ID links to tree view) (see all 12):    About this table

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


    KHDRBS1 for ontologies           About GeneDecksing



    Drugs & Compounds
    for KHDRBS1 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    KHDRBS1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Enzo Life Sciences drugs & compounds for KHDRBS1

    Browse Tocris compounds for KHDRBS1
    10/12 Novoseek 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)

    Search CenterWatch for drugs/clinical trials and news about KHDRBS1 / KHDR1 

    Transcripts
    for KHDRBS1 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    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) ENST00000484270(uc001buc.1)
    ENST00000307714 ENST00000492989

    miRNA
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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 plasmid: KHDRBS1 3' UTR sequence
    Inhib. RNA
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    Additional cDNA 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 

    24/758 AceView cDNA sequences (see all 758):

    AI126618 CR616264 AI859813 AI973141 AW194187 BM458731 CA425838 AA339376 
    BG032520 AA741436 AW009936 BE676353 AA306628 BF724782 AL560232 BQ883410 
    BM449616 AI280059 AX746925 BU735237 CA308090 BQ439384 AA804629 CA419934 

    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

    Expression
    for KHDRBS1 gene

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    KHDRBS1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TGTAAGTCTG

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    KHDRBS1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    2 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    KidneyCap MesenchymeCap Mesenchyme CellsKidney
    LungLung BudLung
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See KHDRBS1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for KHDRBS1

    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
    for KHDRBS1 gene

    (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)
    About This Section
    This gene was present in the common ancestor of eukaryotes.

    Orthologs for KHDRBS1 gene from 7/24 species (see all 24)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves KHDRBS11 KH domain containing, RNA binding, signal transduction more 78.04(n)
    86.97(a)    		   374071  NM_204230.1  NP_989561.1 
    lizard
    (Anolis carolinensis)    		 Reptilia KHDRBS16
    		 --
    		 84(a)
    		 1 ↔ 1
    		 GL343308.1(1417713-1428528)
    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   --
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons AT2G386106
    AT3G086206
    (see all 5)    		 RNA-binding KH domain-containing protein
    (see all 5)    		 24(a)
    23(a)
    (see all 5)    		 many ↔ many
    many ↔ many
    (see all 5)    		 2(16147113-16149873)
    3(2617768-2620573)
    rice
    (Oryza sativa)    		 Liliopsida --
    --
    (see all 7)    		 KH domain containing protein, putative, expressed
    (see all 7)    		 25(a)
    23(a)
    (see all 7)    		 many ↔ many
    many ↔ many
    (see all 7)    		 3(34179264-34183709)
    7(7119724-7125463)


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

    Paralogs
    for KHDRBS1 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    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

    KHDRBS1 for paralogs           About GeneDecksing



    Genomic Variants
    for KHDRBS1 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/510 NCBI SNPs in KHDRBS1 are shown (see all 510)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 1 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs776265041,2
    		C,F,--32477783(+) TCCAAA/GTAAAC 1 -- us2k11Minor allele frequency- G:0.03NA 120
    rs2009181411,2
    		--32477827(+) GTCTC-/GCTCTG 1 -- us2k10--------
    rs66789851,2
    		C,A,--32477865(+) atctcG/Agctca 1 -- us2k11Minor allele frequency- A:0.50WA 2
    rs1893758721,2
    		--32477957(+) CACCCA/GGCTAA 1 -- us2k10--------
    rs614229531,2
    		--32478094(+) CCGGGC/TGGAAA 1 -- us2k10--------
    rs1809165911,2
    		--32478240(+) GACTTC/TTGAAA 1 -- us2k10--------
    rs1415630691,2
    		--32478391(+) GGACCA/TAAGGC 1 -- us2k10--------
    rs1461786261,2
    		--32478455(+) CTATGA/TACCTT 1 -- us2k10--------
    rs120767061,2
    		C,F,H,--32478537(+) AACCAA/GCGTGG 1 -- us2k116Minor allele frequency- G:0.02NS EA NA WA 1976
    rs1394285161,2
    		--32478572(+) CTTTTC/TGAAGG 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for KHDRBS1 (32479430 - 32526451 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for KHDRBS1: --

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    Disorders / Diseases
    for KHDRBS1 gene

    (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.)
    About This Section
    KHDRBS1 for disorders           About GeneDecksing

    OMIM gene information: 602489    OMIM disorders: --

    19 diseases for KHDRBS1:    About MalaCards
    spinal muscular atrophy    wiskott-aldrich syndrome    adenomatous polyposis coli    complex v
    muscular atrophy    squamous cell carcinoma of the head and neck    squamous cell carcinoma    renal cell carcinoma
    polyposis    prostate cancer    breast cancer    carcinoma
    immunodeficiency    pancreatic cancer    prostatitis    pancreatitis
    glioblastoma    malaria    neuronitis

    7 Novoseek 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

    Publications
    for KHDRBS1 gene

    (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)
    About This Section

    PubMed articles for KHDRBS1 gene, integrated from 9 sources (see all 235):
    (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. (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. (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. (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. (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. (1997)
    6. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (2006)
    7. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (2006)
    8. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    9. Identifying and quantifying in vivo methylation sites by heavy methyl SILAC. (PubMed id 15782174)1, 2 Ong S.E.... Mann M. (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. (2004)

    External Searches for KHDRBS1 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing KHDRBS1 gene

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

    Other Databases showing KHDRBS1 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing KHDRBS1 gene

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

    Intellectual Property
    for KHDRBS1 gene

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

    GeneCards and IP:
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