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C6orf89 Gene

protein-coding   GIFtS: 43
GCID: GC06P036839

Chromosome 6 Open Reading Frame 89

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(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
Chromosome 6 Open Reading Frame 891 2
BRAP2 3
Bombesin Receptor Activated Protein1
amfion2
Bombesin Receptor-Activated Protein C6orf892
Amfion3

External Ids:    HGNC: 211141   Entrez Gene: 2214772   Ensembl: ENSG000001986637   UniProtKB: Q6UWU43   

Export aliases for C6orf89 gene to outside databases

Previous GC identifers: GC06P036842 GC06P036886 GC06P036961 GC06P036571


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for C6orf89 Gene:
C6orf89 (chromosome 6 open reading frame 89) is a protein-coding gene.

UniProtKB/Swiss-Prot: CF089_HUMAN, Q6UWU4
Function: Exhibits histone deacetylase (HDAC) enhancer properties. May play a role in cell cycle progression and
wound repair of bronchial epithelial cells

Gene Wiki entry for C6orf89 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_000006.11  NT_007592.16  NC_018917.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the C6orf89 gene promoter:
         TBP   NCX/Ncx   AP-2gamma   Ik-3   c-Ets-1   Pax-3   TFIID   AP-2beta   AP-2alpha   AP-2alphaA   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidC6orf89 promoter sequence
   Search Chromatin IP Primers for C6orf89

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat C6orf89


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

Entrez Gene cytogenetic band: 6p21.2   Ensembl cytogenetic band:  6p21.2   HGNC cytogenetic band: 6p21.31

C6orf89 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C6orf89 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06P036839:  view genomic region     (about GC identifiers)

Start:
36,839,646 bp from pter      End:
36,896,740 bp from pter
Size:
57,095 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., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: CF089_HUMAN, Q6UWU4 (See protein sequence)
Recommended Name: Bombesin receptor-activated protein C6orf89  
Size: 347 amino acids; 39870 Da
Subunit: Interacts with BRS3
Sequence caution: Sequence=AAH23605.2; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Sequence=CAD98021.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Secondary accessions: B4DTT1 F4NAR0 F4NAR1 Q6ZMG5 Q7Z356 Q8IZ35
Alternative splicing: 2 isoforms:  Q6UWU4-1   Q6UWU4-2   

Explore the universe of human proteins at neXtProt for C6orf89: NX_Q6UWU4

Explore proteomics data for C6orf89 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys165, Lys262
  • Modification sites at PhosphoSitePlus

  • See C6orf89 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (4 alternative transcripts): 
    NP_001273564.1  NP_001273565.1  NP_001273566.1  NP_689947.2  

    ENSEMBL proteins: 
     ENSP00000352316   ENSP00000475947   ENSP00000347322   ENSP00000362789   ENSP00000445655  

    C6orf89 Human Recombinant Protein Products:

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    antibodies-online peptides for C6orf89

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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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    ProtoNet protein and cluster: Q6UWU4


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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: CF089_HUMAN, Q6UWU4
    Function: Exhibits histone deacetylase (HDAC) enhancer properties. May play a role in cell cycle progression and
    wound repair of bronchial epithelial cells

    Phenotypes:
         1 GenomeRNAi human phenotype for C6orf89:

     Decreased circadian period len 

         1 MGI mutant phenotype (inferred from 1 allele(MGI details for BC004004):
     normal 

    Find genes that share phenotypes with C6orf89           About GenesLikeMe

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for C6orf89

    miRNA
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    miRTarBase miRNAs that target C6orf89:
    hsa-mir-124-3p (MIRT022490)

    Block miRNA regulation of human, mouse, rat C6orf89 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate C6orf89 (see all 60):
    hsa-miR-411* hsa-miR-548j hsa-miR-323-3p hsa-miR-4291 hsa-miR-100* hsa-miR-607 hsa-miR-3938 hsa-miR-642a
    Browse SwitchGear 3'UTR luciferase reporter plasmids
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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
    CF089_HUMAN, Q6UWU4: Isoform 1: Golgi apparatus membrane; Single-pass type II membrane protein. Midbody
    CF089_HUMAN, Q6UWU4: Isoform 2: Cytoplasm. Nucleus, nucleolus. Note=Retained in nucleolar organiser regions
    (NORs) in mitotic cells
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    golgi apparatus5
    nucleus5
    plasma membrane5
    cytosol2
    peroxisome1

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000139Golgi membrane IEA--
    GO:0005730nucleolus IEA--
    GO:0005737cytoplasm IDA--
    GO:0005886plasma membrane IDA--
    GO:0016021integral component of membrane IEA--

    Find genes that share ontologies with C6orf89           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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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for C6orf89
    Interactions:

        Search GeneGlobe Interaction Network for C6orf89

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    1 Interacting protein for C6orf89 (ENSP000003473224) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    UBCENSP000003448184STRING: ENSP00000344818
    About this table

    Gene Ontology (GO): 3 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0042060wound healing IDA--
    GO:0045787positive regulation of cell cycle IDA--
    GO:0050673epithelial cell proliferation IDA--

    Find genes that share ontologies with C6orf89           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
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for C6orf89 (CF089)



    (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 C6orf89 gene (4 alternative transcripts): 
    NM_001286635.1  NM_001286636.1  NM_001286637.1  NM_152734.3  

    Unigene Cluster for C6orf89:

    Chromosome 6 open reading frame 89
    Hs.433381  [show with all ESTs]
    Unigene Representative Sequence: NM_152734
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000359359(uc003omv.3 uc003omw.3 uc003omx.3 uc011dtr.2)
    ENST00000480824 ENST00000355190 ENST00000373685 ENST00000510325
    miRNA
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    Block miRNA regulation of human, mouse, rat C6orf89 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate C6orf89 (see all 60):
    hsa-miR-411* hsa-miR-548j hsa-miR-323-3p hsa-miR-4291 hsa-miR-100* hsa-miR-607 hsa-miR-3938 hsa-miR-642a
    Browse SwitchGear 3'UTR luciferase reporter plasmids
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      QuantiFast Probe-based Assays in human, mouse, rat C6orf89

    Additional mRNA sequence: 

    AJ420498.1 AJ420511.1 AK001957.1 AK025213.1 AK057109.1 AK172780.1 AK300351.1 AK315984.1 
    AL833755.1 BC009380.2 BC021804.1 BC023605.2 BC032796.1 BC050582.1 BC105946.1 BC105947.1 
    BC107489.1 BX538108.1 DQ487761.1 FR832871.1 FR832872.1 

    14 DOTS entries:

    DT.95248037  DT.112746  DT.75115772  DT.112396  DT.121337697  DT.100824896  DT.113683  DT.95267645 
    DT.121337695  DT.95248047  DT.100028595  DT.121337742  DT.121337737  DT.97778516 

    Selected AceView cDNA sequences (see all 444):

    BX647220 AW243744 BU160485 AA399414 AI399788 BQ420836 CB125244 BP368793 
    AI300054 AW958288 BX094563 BM764655 BM786455 BM852047 BX952102 AW848185 
    CR610311 BM681644 BQ057057 AI868079 BX351419 BM764928 BM797850 BE382450 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for C6orf89    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10
    SP1:              -                       -                           
    SP2:                                                                  
    SP3:                                                                  


    ECgene alternative splicing isoforms for C6orf89

    (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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    C6orf89 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    C6orf89 Expression
    About this image


    C6orf89 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Ovary (Reproductive System)
             Primary Oocyte Primary Follicle
     
     Gonad
             Primary Oocyte Primary Follicle
    C6orf89 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    C6orf89 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.433381
        Custom PCR Arrays for C6orf89
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C6orf89

    (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 C6orf89 gene from Selected species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia BC0040041 , 5 cDNA sequence BC0040041, 5 85.21(n)1
    83.57(a)1
      17 (15.17 cM)5
    807481  NM_030561.31  NP_085038.31 
     292687885 
    chicken
    (Gallus gallus)
    Aves C26H6ORF891 chromosome 26 open reading frame, human C6orf89 62.36(n)
    53.54(a)
      419817  NM_001012548.1  NP_001012566.1 
    lizard
    (Anolis carolinensis)
    Reptilia C6orf896
    chromosome 6 open reading frame 89
    49(a)
    1 ↔ 1
    4(123598638-123626900)
    zebrafish
    (Danio rerio)
    Actinopterygii zgc:1622551 zgc:162255 47.4(n)
    35.88(a)
      100037321  NM_001089477.1  NP_001082946.1 


    ENSEMBL Gene Tree for C6orf89 (if available)
    TreeFam Gene Tree for C6orf89 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    (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 C6orf89 (see all 1079)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1381263551,2
    --36851642(+) AATTCC/TCCTTT 1 -- us2k10--------
    rs69128911,2
    C,F,A,H--36851764(+) cgggcG/Ttgatg 1 -- us2k17Minor allele frequency- T:0.29NA WA EA 366
    rs69130471,2
    C,F,A,H--36851830(+) gtcagG/Aagttt 1 -- us2k12Minor allele frequency- A:0.50NA 4
    rs1874098761,2
    C--36851831(+) TCAGGA/GGTTTG 1 -- us2k10--------
    rs1441406081,2
    --36851906(+) GGTGGC/TAGGTG 1 -- us2k10--------
    rs1918273701,2
    --36851996(+) TCGCCA/GCTGCA 1 -- us2k10--------
    rs770071681,2
    C--36852213(+) CGCCCA/GATAAT 1 -- us2k10--------
    rs1809699291,2
    --36852251(+) TATTCG/TCTCAA 1 -- us2k10--------
    rs1161133371,2
    F--36852293(+) ACAACG/ATCAAA 1 -- us2k11Minor allele frequency- A:0.02WA 118
    rs1119635211,2
    F--36852322(+) AATAAG/CAAAAA 1 -- us2k12Minor allele frequency- C:0.50CSA 4

    HapMap Linkage Disequilibrium report for C6orf89 (36839646 - 36896740 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for C6orf89:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2651912CNV Deletion19546169

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing C6orf89
    DNA2.0 Custom Variant and Variant Library Synthesis for C6orf89

    (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.)
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    (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 C6orf89 gene, integrated from 10 sources (see all 17):
    (articles sorted by number of sources associating them with C6orf89)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. C6orf89 encodes three distinct HDAC enhancers that function in the nucleolus, the Golgi and the midbody. (PubMed id 23460338)1, 2, 3 Lalioti V.S....Sandoval I.V. (J. Cell. Physiol. 2013)
    2. Cloning of a novel protein interacting with BRS-3 and its effects in wound repair of bronchial epithelial cells. (PubMed id 21857995)1, 2, 3 Liu H.J.... Qin X.Q. (PLoS ONE 2011)
    3. 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)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    5. The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)1, 2 Mungall A.J.... Beck S. (Nature 2003)
    6. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PubMed id 12975309)1, 2 Clark H.F.... Gray A.M. (Genome Res. 2003)
    7. Role of bombesin receptor activated protein in the antigen presentation by human bronchial epithelial cells. (PubMed id 22930588)1 Qu X....Qin X.Q. (J. Cell. Biochem. 2013)
    8. Proteomic identification of common SCF ubiquitin ligase FBXO6-interacting glycoproteins in three kinds of cells. (PubMed id 22268729)1 Liu B....Wang L.S. (J. Proteome Res. 2012)
    9. A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (amp 2011)
    10. Systematic and quantitative assessment of the ubiquitin-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (Mol. Cell 2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 221477 HGNC: 21114 AceView: C6orf89 Ensembl:ENSG00000198663 euGenes: HUgn221477
    ECgene: C6orf89 H-InvDB: C6orf89

    (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 C6orf89 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 C6orf89 gene:
    Search GeneIP for patents involving C6orf89

    GeneCards and IP:
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