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    SIX5 SIX homeobox 5 [ Homo sapiens (human) ]

    Gene ID: 147912, updated on 9-Jun-2016
    Official Symbol
    SIX5provided by HGNC
    Official Full Name
    SIX homeobox 5provided by HGNC
    Primary source
    HGNC:HGNC:10891
    See related
    Ensembl:ENSG00000177045 HPRD:09024; MIM:600963; Vega:OTTHUMG00000172208
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    BOR2; DMAHP
    Summary
    The protein encoded by this gene is a homeodomain-containing transcription factor that appears to function in the regulation of organogenesis. This gene is located downstream of the dystrophia myotonica-protein kinase gene. Mutations in this gene are a cause of branchiootorenal syndrome type 2. [provided by RefSeq, Jul 2009]
    Orthologs
    Location:
    19q13.32
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 19 NC_000019.10 (45764785..45769239, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (46268043..46272497, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene F-box protein 46 Neighboring gene basic helix-loop-helix and HMG-box containing 1 Neighboring gene dystrophia myotonica protein kinase Neighboring gene dystrophia myotonica, WD repeat containing

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    RNA polymerase II core promoter proximal region sequence-specific DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    lens development in camera-type eye IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of skeletal muscle satellite cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of transcription, DNA-templated IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of transcription from RNA polymerase II promoter IEA
    Inferred from Electronic Annotation
    more info
     
    spermatid development IEA
    Inferred from Electronic Annotation
    more info
     
    transcription, DNA-templated IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    Golgi apparatus IDA
    Inferred from Direct Assay
    more info
     
    cytoplasm IDA
    Inferred from Direct Assay
    more info
     
    intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
     
    nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    Preferred Names
    homeobox protein SIX5
    Names
    DM locus-associated homeodomain protein
    dystrophia myotonica-associated homeodomain protein
    sine oculis homeobox homolog 5

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_012745.1 RefSeqGene

      Range
      5001..9455
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_175875.4NP_787071.2  homeobox protein SIX5

      See identical proteins and their annotated locations for NP_787071.2

      Status: REVIEWED

      Source sequence(s)
      AC074212, AK074826, BC033204
      Consensus CDS
      CCDS12673.1
      UniProtKB/Swiss-Prot
      Q8N196
      Related
      ENSP00000316842, OTTHUMP00000247865, ENST00000317578, OTTHUMT00000417341
      Conserved Domains (1) summary
      cd00086
      Location:206257
      homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p7 Primary Assembly

      Range
      45764785..45769239 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018930.2 Alternate CHM1_1.1

      Range
      46271557..46276011 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)