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SIX1 SIX homeobox 1 [Homo sapiens (human)]


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_005982 Homo sapiens SIX homeobox 1 (SIX1), mRNA. GenEZ ORF Cloning On-demand $449.00 14

*Business Day

Related Services

Gene Symbol SIX1
Entrez Gene ID 6495
Full Name SIX homeobox 1
Synonyms BOS3, DFNA23, TIP39
General protein information
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

14

14q23.1

Summary The protein encoded by this gene is a homeobox protein that is similar to the Drosophila 'sine oculis' gene product. This gene is found in a cluster of related genes on chromosome 14 and is thought to be involved in limb development. Defects in this gene are a cause of autosomal dominant deafness type 23 (DFNA23) and branchiootic syndrome type 3 (BOS3). [provided by RefSeq, Jul 2008].
Disorder

MIM: 601205

Brachiootic syndrome 3, 608389 (3); Deafness, autosomal dominant 23,

mRNA Protein Product Sequence Price Select
NM_005982, 186928837 NP_005973, 5174681 homeobox protein SIX1 ORF Sequence $300.00
KEGG
hsa05202Transcriptional misregulation in cancer
Homo sapiens (human)SIX1NP_005973.1
Pan troglodytes (chimpanzee)SIX1XP_509988.2
Macaca mulatta (Rhesus monkey)SIX1XP_001096585.1
Canis lupus familiaris (dog)SIX1XP_547841.3
Bos taurus (cattle)SIX1XP_002691065.3
Mus musculus (house mouse)Six1NP_033215.2
Rattus norvegicus (Norway rat)Six1NP_446211.1
Gallus gallus (chicken)SIX1NP_001038150.1
Danio rerio (zebrafish)six1bNP_996978.1
Drosophila melanogaster (fruit fly)soNP_476733.1
Xenopus (Silurana) tropicalis (western clawed frog)six1NP_001093693.1
Process
IDNameEvidence
GO:0000122negative regulation of transcription from RNA polymerase II promoterIEA
GO:0001657ureteric bud developmentISS
GO:0001658branching involved in ureteric bud morphogenesisISS
GO:0001759organ inductionISS
GO:0001822kidney developmentISS
GO:0003151outflow tract morphogenesisIEA
GO:0006351transcription, DNA-templatedIEA
GO:0006355regulation of transcription, DNA-templatedISS
GO:0006915apoptotic processIEA
GO:0007389pattern specification processISS
GO:0007519skeletal muscle tissue developmentISS
GO:0007605sensory perception of soundIEA
GO:0008582regulation of synaptic growth at neuromuscular junctionIEA
GO:0021610facial nerve morphogenesisIEA
GO:0030855epithelial cell differentiationISS
GO:0030878thyroid gland developmentISS
GO:0032880regulation of protein localizationIEA
GO:0034504protein localization to nucleusIDA
GO:0035909aorta morphogenesisIEA
GO:0042472inner ear morphogenesisISS
GO:0042474middle ear morphogenesisIEA
GO:0043524negative regulation of neuron apoptotic processISS
GO:0045664regulation of neuron differentiationISS
GO:0045893positive regulation of transcription, DNA-templatedISS
GO:0045944positive regulation of transcription from RNA polymerase II promoterIDA
GO:0048538thymus developmentISS
GO:0048665neuron fate specificationIEA
GO:0048699generation of neuronsISS
GO:0048701embryonic cranial skeleton morphogenesisISS
GO:0048704embryonic skeletal system morphogenesisISS
GO:0048839inner ear developmentISS
GO:0051451myoblast migrationISS
GO:0060037pharyngeal system developmentIEA
GO:0071599otic vesicle developmentIEA
GO:0072075metanephric mesenchyme developmentISS
GO:0072095regulation of branch elongation involved in ureteric bud branchingISS
GO:0072107positive regulation of ureteric bud formationISS
GO:0072172mesonephric tubule formationISS
GO:0072193ureter smooth muscle cell differentiationIEA
GO:0072513positive regulation of secondary heart field cardioblast proliferationIEA
GO:0090103cochlea morphogenesisIEA
GO:0090190positive regulation of branching involved in ureteric bud morphogenesisISS
GO:0090191negative regulation of branching involved in ureteric bud morphogenesisIEA
GO:2000729positive regulation of mesenchymal cell proliferation involved in ureter developmentIEA
Component
IDNameEvidence
GO:0005634nucleusIDA
GO:0005667transcription factor complexISS
GO:0005730nucleolusIDA
GO:0005737cytoplasmIEA
Function
IDNameEvidence
GO:0003677DNA bindingIDA
GO:0003682chromatin bindingIEA
GO:0003700sequence-specific DNA binding transcription factor activityIDA
GO:0003700sequence-specific DNA binding transcription factor activityISS
GO:0005515protein bindingIPI
GO:0043565sequence-specific DNA bindingIDA
GO:0044212transcription regulatory region DNA bindingIDA
GeneCards SIX1
PDB 4EGC
UniProt Q15475
MIM 601205
HGNC 10887
HPRD 03125

GeneRIFs: Gene References Into Functions What's a GeneRIF?

What is the normal function of the SIX1 gene?

The SIX1 gene is part of a group of similar genes known as the SIX gene family. Genes in this family provide instructions for making proteins that bind to DNA and control the activity of other genes. Based on this role, SIX proteins are called transcription factors.

The SIX1 protein interacts with several other proteins, including the EYA1 protein, to regulate the activity of genes that are important for normal development. Before birth, these protein interactions appear to be essential for the normal formation of many tissues, including the second branchial arch (a structure that gives rise to tissues in the front and side of the neck), the ears, the kidneys, the nose, an immune system gland called the thymus, and muscles used for movement (skeletal muscles).

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