Format

Send to:

Choose Destination

SIX5 SIX homeobox 5 [ Homo sapiens (human) ]

Gene ID: 147912, updated on 3-Jun-2018
Official Symbol
SIX5provided by HGNC
Official Full Name
SIX homeobox 5provided by HGNC
Primary source
HGNC:HGNC:10891
See related
Ensembl:ENSG00000177045 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]
Expression
Ubiquitous expression in ovary (RPKM 8.6), prostate (RPKM 7.4) and 24 other tissues See more
Orthologs
See SIX5 in Genome Data Viewer
Location:
19q13.32
Exon count:
3
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 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 origin of replication in DMPK trinucleotide repeat region Neighboring gene dystrophia myotonica protein kinase repeat instability region Neighboring gene DM1 locus antisense RNA Neighboring gene DM1 protein kinase Neighboring gene DM1 locus, WD repeat containing

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
anatomical structure development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of transcription, DNA-templated IEA
Inferred from Electronic Annotation
more info
 
positive regulation of transcription by RNA polymerase II 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
cytoplasm IEA
Inferred from Electronic Annotation
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus IEA
Inferred from Electronic Annotation
more info
 
transcription factor complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
    ENSP00000316842.4, OTTHUMP00000247865, ENST00000317578.6, OTTHUMT00000417341
    Conserved Domains (2) 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.
    pfam16878
    Location:86195
    SIX1_SD; Transcriptional regulator, SIX1, N-terminal SD domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p12 Primary Assembly

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