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

RBAK Gene

protein-coding   GIFtS: 47
GCID: GC07P005023

RB-associated KRAB zinc finger

 Explore 3 diseases affiliated with
RBAK via our new
 Human Malady Compendium 
Biological research products
for RBAK
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
RB-Associated KRAB Zinc Finger1 2
ZNF7691 2 3
Zinc Finger Protein 7692 3
RB-Associated KRAB Repressor2 3
RB-Associated KRAB Zinc Finger Protein2
HRBaK1

External Ids:    HGNC: 176801   Entrez Gene: 577862   Ensembl: ENSG000001465877   OMIM: 6081915   UniProtKB: Q9NYW83   

Export aliases for RBAK gene to outside databases

Previous GC identifers: GC07P004729 GC07P004829 GC07P004858 GC07P005052 GC07P004990 GC07P004994


(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 RBAK:
This gene encodes a nuclear protein which interacts with the tumor suppressor retinoblastoma 1. The two interacting
proteins are thought to act as a transcriptional repressor for promoters which are activated by the E2F1 transcription
factor. This protein contains a Kruppel-associated box (KRAB), which is a transcriptional repressor motif.
Read-through transcripts that include exons from the downstream gene LOC389458 are expressed from this locus.
(provided by RefSeq, Mar 2011)

UniProtKB/Swiss-Prot: RBAK_HUMAN, Q9NYW8
Function: May repress E2F-dependent transcription. May promote AR-dependent transcription




(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_000007.13  NC_018918.1  NT_007819.17  NT_079592.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the RBAK gene promoter:
         GR   GR-beta   SREBP-1c   C/EBPalpha   SREBP-1b   NRF-2   SREBP-1a   c-Myb   GR-alpha   Pax-4a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidRBAK promoter sequence
   Search SABiosciences Chromatin IP Primers for RBAK

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat RBAK


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

Entrez Gene cytogenetic band: 7p22.1   Ensembl cytogenetic band:  7p22.1   HGNC cytogenetic band: 7p22.1

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

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07P005023:  view genomic region     (about GC identifiers)

Start:
5,023,349 bp from pter      End:
5,112,854 bp from pter
Size:
89,506 bases      Orientation:
plus strand

1 alternative location:
Chr7+,CRA_TCAG 5,131,908-5,155,474     

(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: RBAK_HUMAN, Q9NYW8 (See protein sequence)
Recommended Name: RB-associated KRAB zinc finger protein  
Size: 714 amino acids; 82995 Da
Subunit: Interacts with AR and RB1. May also interact with other nuclear hormone receptors such as NR3C1/GR
Subcellular location: Nucleus
Secondary accessions: A6NDF2 A8KAK4 B2RN44 B9EGS1 F8W6M7
Alternative splicing: 2 isoforms:  Q9NYW8-1   Q9NYW8-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for RBAK: NX_Q9NYW8

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9NYW8

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

    REFSEQ proteins (2 alternative transcripts): 
    NP_001191385.1  NP_066986.1  

    ENSEMBL proteins: 
     ENSP00000385560   ENSP00000275423   ENSP00000380112   ENSP00000380120  

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    Uscn Proteins for RBAK

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular ----
    GO:0005634nucleus TAS10702291


    RBAK for ontologies           About GeneDecksing



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

    RBAK for domains           About GeneDecksing

    4 InterPro domains/families:
     IPR001909 Krueppel-associated_box
     IPR015880 Znf_C2H2-like
     IPR013087 Znf_C2H2/integrase_DNA-bd
     IPR007087 Znf_C2H2

    Graphical View of Domain Structure for InterPro Entry Q9NYW8

    ProtoNet protein and cluster: Q9NYW8

    2 Blocks protein families:
    IPB001909 KRAB box
    IPB007086 C2H2-type zinc finger signature


    UniProtKB/Swiss-Prot: RBAK_HUMAN, Q9NYW8
    Similarity: Belongs to the krueppel C2H2-type zinc-finger protein family
    Similarity: Contains 16 C2H2-type zinc fingers
    Similarity: Contains 1 KRAB domain


    (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: RBAK_HUMAN, Q9NYW8
    Function: May repress E2F-dependent transcription. May promote AR-dependent transcription

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    Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003676nucleic acid binding IEA--
    GO:0008270zinc ion binding NAS10702291


    RBAK for ontologies           About GeneDecksing



    (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



    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for RBAK

    STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

    4 Interacting proteins for RBAK (Q9NYW83 ENSP000002754234) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ARP102753, ENSP000003638224I2D: score=1 STRING: ENSP00000363822
    RB1P064003, ENSP000002671634I2D: score=1 STRING: ENSP00000267163
    SUMO1P631653, ENSP000003760764I2D: score=1 STRING: ENSP00000376076
    SMARCAD1ENSP000003519474STRING: ENSP00000351947
    About this table

    Gene Ontology (GO): 3 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006351transcription, DNA-dependent IEA--
    GO:0006355regulation of transcription, DNA-dependent TAS10702291
    GO:0045892negative regulation of transcription, DNA-dependent TAS10702291


    RBAK for ontologies           About GeneDecksing



    (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
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for RBAK
    Search CenterWatch for drugs/clinical trials and news about RBAK 

    (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 RBAK gene (2 alternative transcripts): 
    NM_001204456.1  NM_021163.3  

    Unigene Cluster for RBAK:

    RB-associated KRAB zinc finger
    Hs.396178  [show with all ESTs]
    Unigene Representative Sequence: NM_021163
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000407184(uc003snr.3) ENST00000353796 ENST00000396904(uc021zzc.1)
    ENST00000476992 ENST00000498308(uc010kst.3) ENST00000396912(uc010kss.1 uc003sns.1)


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    hsa-miR-448 hsa-miR-125a-5p hsa-miR-181c hsa-miR-519a hsa-miR-103a hsa-miR-3692 hsa-miR-483-3p hsa-miR-125b
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    Inhib. RNA
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    Additional cDNA sequence: 

    AK093275.1 AK293069.1 BC136675.1 BC136676.1 

    8 DOTS entries:

    DT.413956  DT.445470  DT.95219963  DT.121112553  DT.95110506  DT.412874  DT.97862726  DT.95222906 

    24/329 AceView cDNA sequences (see all 329):

    CK429258 AA746299 CA436370 BG941068 BE303029 AA627128 AA732600 BF055141 
    F11246 AI024759 AI018503 AA912708 AI024605 CR619754 F08909 AI468075 
    BU785403 AA804908 AK093275 BE350347 NM_203393 BM817557 AI380539 BU187037 

    GeneLoc Exon Structure


    (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

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

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

    About this image
    See RBAK Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for RBAK

    SOURCE GeneReport for Unigene cluster: Hs.396178

    UniProtKB/Swiss-Prot: RBAK_HUMAN, Q9NYW8
    Tissue specificity: Expressed in bone, brain, heart, kidney, liver, lung, pancreas and placenta

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    In Situ
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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)
    About This Section
      --

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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for RBAK gene
    ZNF3342  ENSG000002673602  ZNF7822  ZNF122  ZNF5102  ZNF5672  ZNF33A2  ZNF7172  
    ZNF487P2  ZNF37A2  ZNF2482  ZNF33B2  ZNF3822  
    18/407 SIMAP similar genes for RBAK using alignment to 3 protein entries:     RBAK_HUMAN (see all proteins) (see all similar genes):
    POM121C    PMS2P3    ZNF300P1    MGC12518    ZNF12    HZF11
    ZNF32    ZNF702P    ZNF81    ZNF789    ZNF852    ZNF101
    ZNF323    ZNF66    ZNF768    ZNF283    ZNF420    ZFS-1

    RBAK for paralogs           About GeneDecksing


    2 Pseudogenes.org Pseudogenes for RBAK
    PGOHUM00000258252 PGOHUM00000258255


    (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

    10/577 NCBI SNPs in RBAK are shown (see all 577    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1146502341,2
    F,--5083468(+) GGACTC/TCCCTG 2 -- us2k11Minor allele frequency- T:0.03WA 118
    rs126729381,2
    C,F,A,H,--5083475(+) CCTGTC/TGGCCA 2 -- us2k17Minor allele frequency- T:0.29WA NA CSA EA 365
    rs345444761,2
    C,F,--5083483(+) CCAGCA/GAGATC 2 -- us2k17Minor allele frequency- G:0.17NA WA EA 366
    rs1149837451,2
    --5083522(+) TCATGA/TTGGGA 2 -- us2k10--------
    rs1997103481,2
    --5083522(+) TCATG-/ATGGGA 2 -- us2k10--------
    rs1166450771,2
    --5083523(+) CATGAG/TGGGAA 2 -- us2k10--------
    rs1864003671,2
    --5083560(+) ACTCTC/TCTCCC 3 -- us2k10--------
    rs1389554861,2
    --5083650(+) GTAAGA/GTACCC 3 -- us2k10--------
    rs1908147061,2
    --5083657(+) ACCCAA/GCTCCA 3 -- us2k10--------
    rs46409711,2
    C,F,H,--5083741(+) TATTTT/GCTTTG 3 -- us2k115Minor allele frequency- G:0.07NS EA NA 2214

    HapMap Linkage Disequilibrium report for RBAK (5023349 - 5112854 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for RBAK: --

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    RBAK for disorders           About GeneDecksing

    OMIM gene information: 608191    OMIM disorders: --

    3 diseases for RBAK:    About MalaCards
    retinoblastoma    hyperaldosteronism    familial hyperaldosteronism

    Human Genome Epidemiology (HuGE) Navigator: RBAK (1 document)

    Export disorders for RBAK 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)
    About This Section

    PubMed articles for RBAK gene, integrated from 9 sources (see all 17):
    (articles sorted by number of sources associating them with RBAK)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning and characterization of a novel Kruppel-associated box family transcriptional repressor that interacts with the retinoblastoma gene product, RB. (PubMed id 10702291)1, 2, 9 Skapek S.X....Lee E.Y.-H.P. (2000)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    3. The retinoblastoma protein-associated transcription repressor RBaK interacts with the androgen receptor and enhances its transcriptional activity. (PubMed id 14664718)1, 2 Hofman K.... Heyns W. (2003)
    4. Maintenance of silent chromatin through replication r equires SWI/SNF-like chromatin remodeler SMARCAD1. (PubMed id 21549307)1 Rowbotham S.P....Mermoud J.E. (2011)
    5. Systematic analysis of human protein complexes identi fies chromosome segregation proteins. (PubMed id 20360068)1 Hutchins J.R....Peters J.M. (2010)
    6. [Review for the regulatory functions of KRAB zinc fin ger proteins in embryonic development and tumorgenesis of higher vertebrates] (PubMed id 20466629)1 Ma Z.F....Jiang Y. (2010)
    7. Identification of candidate genes for human pituitary development by EST analysis. (PubMed id 19284880)1 Ma Y....Hao X. (2009)
    8. Coeliac disease associated risk variants in TNFAIP3 and REL implicate altered NF-{kappa}B signalling. (PubMed id 19240061)1 Trynka G....Wijmenga C. (2009)
    9. Examination of chromosome 7p22 candidate genes RBaK, PMS2 and GNA12 in familial hyperaldosteronism type II. (PubMed id 18307725)1 Jeske Y.W....Stowasser M. (2008)
    10. No evidence for coding region mutations in the retinoblastoma-associated Kruppel-associated box protein gene (RBaK) causing familial hyperaldosteronism type II. (PubMed id 17121540)1 So A....Stowasser M. (2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    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)
    About This Section
    Entrez Gene: 57786 HGNC: 17680 AceView: RBAK Ensembl:ENSG00000146587 euGenes: HUgn57786
    ECgene: RBAK H-InvDB: RBAK

    (According to HUGE)
    About This Section
      --

    (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 RBAK Pharmacogenomics, SNPs, Pathways

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

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



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    In Situ Hybridization Assays from
    Advanced Cell Diagnostics
    About This Section

     
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    GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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    VWF
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    von Willebrand factor
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