Entity Details

Primary name SIX1
Entity type gene
Source Source Link

Details

PrimaryID6495
RefseqGeneNG_008231
SymbolSIX1
NameSIX homeobox 1
Chromosome14
Location14q23.1
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1996-06-26
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsSIX1_HUMAN

GO terms

Show/Hide Table
GOName
GO:0000122 negative regulation of transcription by RNA polymerase II
GO:0000785 chromatin
GO:0000976 transcription cis-regulatory region binding
GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific
GO:0001223 transcription coactivator binding
GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific
GO:0001657 ureteric bud development
GO:0001658 branching involved in ureteric bud morphogenesis
GO:0001759 organ induction
GO:0001822 kidney development
GO:0003151 outflow tract morphogenesis
GO:0003677 DNA binding
GO:0003682 chromatin binding
GO:0003700 DNA-binding transcription factor activity
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005667 transcription regulator complex
GO:0005730 nucleolus
GO:0005737 cytoplasm
GO:0006355 regulation of transcription, DNA-templated
GO:0006357 regulation of transcription by RNA polymerase II
GO:0006915 apoptotic process
GO:0007389 pattern specification process
GO:0007519 skeletal muscle tissue development
GO:0007605 sensory perception of sound
GO:0008582 regulation of synaptic assembly at neuromuscular junction
GO:0014842 regulation of skeletal muscle satellite cell proliferation
GO:0014857 regulation of skeletal muscle cell proliferation
GO:0021610 facial nerve morphogenesis
GO:0030855 epithelial cell differentiation
GO:0030878 thyroid gland development
GO:0030910 olfactory placode formation
GO:0032880 regulation of protein localization
GO:0034504 protein localization to nucleus
GO:0035909 aorta morphogenesis
GO:0042472 inner ear morphogenesis
GO:0042474 middle ear morphogenesis
GO:0043524 negative regulation of neuron apoptotic process
GO:0043565 sequence-specific DNA binding
GO:0045664 regulation of neuron differentiation
GO:0045893 positive regulation of transcription, DNA-templated
GO:0045944 positive regulation of transcription by RNA polymerase II
GO:0048538 thymus development
GO:0048665 neuron fate specification
GO:0048699 generation of neurons
GO:0048701 embryonic cranial skeleton morphogenesis
GO:0048704 embryonic skeletal system morphogenesis
GO:0048741 skeletal muscle fiber development
GO:0048839 inner ear development
GO:0050678 regulation of epithelial cell proliferation
GO:0051451 myoblast migration
GO:0060037 pharyngeal system development
GO:0061055 myotome development
GO:0061197 fungiform papilla morphogenesis
GO:0061551 trigeminal ganglion development
GO:0071599 otic vesicle development
GO:0072075 metanephric mesenchyme development
GO:0072095 regulation of branch elongation involved in ureteric bud branching
GO:0072107 positive regulation of ureteric bud formation
GO:0072172 mesonephric tubule formation
GO:0072193 ureter smooth muscle cell differentiation
GO:0072513 positive regulation of secondary heart field cardioblast proliferation
GO:0090103 cochlea morphogenesis
GO:0090190 positive regulation of branching involved in ureteric bud morphogenesis
GO:0090336 positive regulation of brown fat cell differentiation
GO:1905243 cellular response to 3,3',5-triiodo-L-thyronine
GO:1990837 sequence-specific double-stranded DNA binding
GO:2000729 positive regulation of mesenchymal cell proliferation involved in ureter development
GO:2001014 regulation of skeletal muscle cell differentiation

Diseases

Show/Hide Table
Disease IDSourceNameDescription
608389 OMIMBranchiootic syndrome 3 (BOS3)A syndrome characterized by usually bilateral branchial cleft fistulas or cysts, sensorineural and/or conductive hearing loss, pre-auricular pits, and structural defects of the outer, middle or inner ear. Otic defects include malformed and hypoplastic pinnae, a narrowed external ear canal, bulbous internal auditory canal, stapes fixation, malformed and hypoplastic cochlea. Branchial and otic anomalies overlap with those seen in individuals with the branchiootorenal syndrome. However renal anomalies are absent in branchiootic syndrome patients. The disease is caused by variants affecting the gene represented in this entry.
605192 OMIMDeafness, autosomal dominant, 23 (DFNA23)A form of non-syndromic deafness characterized by prelingual, bilateral, symmetric hearing loss with a conductive component present in some but not all patients. The disease is caused by variants affecting the gene represented in this entry.