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RBAK Gene

protein-coding   GIFtS: 50
GCID: GC07P005085

RB-Associated KRAB Zinc Finger

  See related diseases
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
RB-Associated KRAB Zinc Finger1 2
Zinc Finger Protein 7692 3
ZNF7692 3
RB-Associated KRAB Repressor2 3
RB-Associated KRAB Zinc Finger Protein2
hRBaK3

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 GC07P005023


(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 RBAK Gene:
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)

GeneCards Summary for RBAK Gene:
RBAK (RB-associated KRAB zinc finger) is a protein-coding gene. Diseases associated with RBAK include familial hyperaldosteronism, and hyperaldosteronism. GO annotations related to this gene include nucleic acid binding. An important paralog of this gene is ZNF334.

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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000007.14  NC_018918.2  NT_007819.18  
Regulatory elements:
   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 Chromatin IP Primers for RBAK

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 GC07P005085:  view genomic region     (about GC identifiers)

Start:
5,085,452 bp from pter      End:
5,109,119 bp from pter
Size:
23,668 bases      Orientation:
plus strand

1 alternative location:
Chr7+,CRA_TCAG 5,131,807-5,155,474     

(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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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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
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

Explore proteomics data for RBAK at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

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

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

    ENSEMBL proteins: 
     ENSP00000275423   ENSP00000380120  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    ZNF: Zinc fingers, C2H2-type

    4 InterPro protein domains:
     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 domains:
    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


    RBAK for domains           About GeneDecksing


    (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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

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

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003676nucleic acid binding IEA--
    GO:0008270zinc ion binding NAS10702291
    GO:0046872metal ion binding ----
         
    RBAK for ontologies           About GeneDecksing


    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for RBAK
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    miRNA
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    hsa-mir-378a-3p (MIRT043869), hsa-mir-615-3p (MIRT040111), hsa-mir-155-5p (MIRT020857), hsa-mir-125a-5p (MIRT021316)

    Block miRNA regulation of human, mouse, rat RBAK using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate RBAK (see all 29):
    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
    SwitchGear 3'UTR luciferase reporter plasmidRBAK 3' UTR sequence
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    (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
    RBAK_HUMAN, Q9NYW8: Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol2

    Gene Ontology (GO): 2 cellular component terms:    About this table

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

    RBAK for ontologies           About GeneDecksing


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

        GeneGlobe Interaction 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:    About this table

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

    RBAK for ontologies           About GeneDecksing



    (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
       Browse drugs & compounds from Enzo Life Sciences
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    Browse Tocris compounds for RBAK



    (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,
    Conferences by KenesGroup, 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, Primers from OriGene, and/or QIAGEN )
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    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
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000353796 ENST00000476992 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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      QuantiFast Probe-based Assays in human, mouse, rat RBAK

    Additional mRNA 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 

    Selected AceView cDNA sequences (see all 329):

    AA278262 BQ212689 AA746299 AA627128 AI376562 BG941068 BX097482 AI024759 
    BF055141 AI468075 AA804883 BU187037 NM_021163 CR619754 BU785403 AI018503 
    AA912708 AI024605 BG254095 CK429258 CA436370 AI380539 BE303029 NM_203393 

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

    RBAK Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    RBAK Protein Expression

    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)
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    This gene was present in the common ancestor of chordates.

    Orthologs for RBAK gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Rbak1 , 5 RB-associated KRAB repressor1, 5 79.31(n)1
    79.69(a)1
      5 (81.98 cM)5
    577821  NM_001045482.21  NP_001038947.11 
     1431721865 
    chicken
    (Gallus gallus)
    Aves --
    Uncharacterized protein
    33(a)
    1 → many
    2(350396-358052)
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    (see all 30)
    Uncharacterized protein
    (see all 30)
    50(a)
    49(a)
    (see all 30)
    many ↔ many
    many ↔ many
    (see all 30)
    GL343571.1(481776-483191)
    GL343733.1(218282-219890)
    zebrafish
    (Danio rerio)
    Actinopterygii BX572103.56
    CR388095.26
    (see all 15)
    Uncharacterized protein
    (see all 15)
    45(a)
    43(a)
    (see all 15)
    many ↔ many
    many ↔ many
    (see all 15)
    Zv9_scaffold3530(784950-801038) ENSDARG00000095658
    4(30081231-30117139) ENSDARG00000092149


    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)
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    Paralogs for RBAK gene
    ZNF3342  ZNF4202  ZNF780A2  ZNF6652  ZNF72  ZNF232  ZNF33A2  ZNF7172  
    ZNF302  ZNF5732  ZNF33B2  ZNF5402  ZNF2512  ZNF6052  ZNF842  ZNF1892  
    ZNF5712  ZNF6302  ZNF3372  ZNF2832  ZNF4042  ZNF1352  ZNF4842  ZNF122  
    ZNF3452  ZNF1842  ZNF6992  ZNF412  ZNF6152  ZNF4702  ZNF5692  
    Selected SIMAP similar genes for RBAK using alignment to 2 protein entries:     RBAK_HUMAN (see all proteins) (see all similar genes):
    ZNF12    HZF11    ZNF32    ZNF702P    ZNF852    ZNF323
    ZNF768    ZFS-1    ZKSCAN8    ZNF146    ZNF502    ZNF708
    DKFZp686B16128    ZNF678    ZNF696    ZNF835    ZNF883    ZSCAN29

    RBAK for paralogs           About GeneDecksing


    2 Pseudogenes.org Pseudogenes for RBAK
    PGOHUM00000258252 PGOHUM00000258255


    (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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    1 SNPs for RBAK    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs353527381,2,4
    ----see VAR_0384382 mis40--------

    HapMap Linkage Disequilibrium report for RBAK (5085452 - 5109119 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for RBAK:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv436904CNV Insertion17901297
    nsv8033CNV Loss18304495

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing RBAK
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 608191    OMIM disorders: --

    3 diseases for RBAK:    
    About MalaCards
    familial hyperaldosteronism    hyperaldosteronism    retinoblastoma


    RBAK for disorders           About GeneDecksing

    Genetic Association Database (GAD): RBAK
    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)
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    PubMed articles for RBAK gene, integrated from 10 sources (see all 18):
    (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. (J. Biol. Chem. 2000)
    2. Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling. (PubMed id 19240061)1, 4 Trynka G....Wijmenga C. (Gut 2009)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    4. 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. (J. Mol. Endocrinol. 2003)
    5. Pathway Analysis of ChIP-Seq-Based NRF1 Target Genes Suggests a Logical Hypothesis of their Involvement in the Pathogenesis of Neurodegenerative Diseases. (PubMed id 24250222)1 Satoh J....Yamamoto Y. (Gene Regul Syst Bio 2013)
    6. Maintenance of silent chromatin through replication requires SWI/SNF- like chromatin remodeler SMARCAD1. (PubMed id 21549307)1 Rowbotham S.P.... Mermoud J.E. (Mol. Cell 2011)
    7. [Review for the regulatory functions of KRAB zinc finger proteins in embryonic development and tumorgenesis of higher vertebrates]. (PubMed id 20466629)1 Ma Z.F....Jiang Y. (Yi Chuan 2010)
    8. Systematic analysis of human protein complexes identifies chromosome segregation proteins. (PubMed id 20360068)1 Hutchins J.R.... Peters J.M. (Science 2010)
    9. Identification of candidate genes for human pituitary development by EST analysis. (PubMed id 19284880)1 Ma Y....Hao X. (BMC Genomics 2009)
    10. Examination of chromosome 7p22 candidate genes RBaK, PMS2 and GNA12 in familial hyperaldosteronism type II. (PubMed id 18307725)1 Jeske Y.W....Stowasser M. (amp 2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
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      Query String
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    OMIM
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      (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: 57786 HGNC: 17680 AceView: RBAK Ensembl:ENSG00000146587 euGenes: HUgn57786
    ECgene: RBAK H-InvDB: RBAK

    (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 RBAK Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    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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