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Gene: SIX1 (SIX homeobox 1) Homo sapiens
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Symbol: SIX1
Name: SIX homeobox 1
Description: Exhibits DNA-binding transcription activator activity, RNA polymerase II-specific and RNA polymerase II proximal promoter sequence-specific DNA binding activity. Involved in positive regulation of transcription by RNA polymerase II and protein localization to nucleus. Localizes to the nucleolus and nucleoplasm. Implicated in autosomal dominant nonsyndromic deafness 23; branchiootorenal syndrome; and nephroblastoma. Biomarker of breast cancer; hepatocellular carcinoma; nephroblastoma; neurilemmoma; and ovarian carcinoma.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: BOS3; deafness, autosomal dominant 23; DFNA23; homeobox protein SIX1; sine oculis homeobox homolog 1; TIP39
Orthologs:
Mus musculus (house mouse) : Six1 (sine oculis-related homeobox 1)  MGI  Alliance
Rattus norvegicus (Norway rat) : Six1 (SIX homeobox 1)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Six1 (SIX homeobox 1)
Pan paniscus (bonobo/pygmy chimpanzee) : SIX1 (SIX homeobox 1)
Canis lupus familiaris (dog) : SIX1 (SIX homeobox 1)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Six1 (SIX homeobox 1)
Sus scrofa (pig) : SIX1 (SIX homeobox 1)
Chlorocebus sabaeus (African green monkey) : SIX1 (SIX homeobox 1)
Heterocephalus glaber (naked mole-rat) : Six1 (SIX homeobox 1)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38 Ensembl1460,643,421 - 60,658,259 (-)EnsemblGRCh38hg38GRCh38
GRCh381460,643,421 - 60,649,489 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371461,111,417 - 61,116,155 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361460,182,506 - 60,185,933 (-)NCBINCBI36hg18NCBI36
Build 341460,182,505 - 60,185,933NCBI
Celera1441,161,682 - 41,166,417 (-)NCBI
Cytogenetic Map14q23.1NCBI
HuRef1441,274,621 - 41,279,356 (-)NCBIHuRef
CHM1_11461,050,553 - 61,055,290 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Phenotype Annotations
References - curated
References - uncurated

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Expression

RNA-SEQ Expression

Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
Nomenclature History
 
More on SIX1
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

CRRD Object Information
CRRD ID: 731648
Created: 2004-01-12
Species: Homo sapiens
Last Modified: 2020-03-24
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.