Gene Gene information from NCBI Gene database.
Entrez ID 6495
Gene name SIX homeobox 1
Gene symbol SIX1
Synonyms (NCBI Gene)
BOS3DFNA23TIP39
Chromosome 14
Chromosome location 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
miRNA miRNA information provided by mirtarbase database.
687
miRTarBase ID miRNA Experiments Reference
MIRT005550 hsa-miR-185-5p Luciferase reporter assayqRT-PCRQuantitative proteomic approachWestern blot 20603620
MIRT005550 hsa-miR-185-5p Luciferase reporter assayqRT-PCRQuantitative proteomic approachWestern blot 20603620
MIRT016461 hsa-miR-193b-3p Microarray 20304954
MIRT029669 hsa-miR-26b-5p Microarray 19088304
MIRT042949 hsa-miR-324-3p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
125
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IEA
GO:0000785 Component Chromatin ISA
GO:0000976 Function Transcription cis-regulatory region binding IDA 16670092
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA 15141091
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
601205 10887 ENSG00000126778
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q15475
Protein name Homeobox protein SIX1 (Sine oculis homeobox homolog 1)
Protein function Transcription factor that is involved in the regulation of cell proliferation, apoptosis and embryonic development (By similarity). Plays an important role in the development of several organs, including kidney, muscle and inner ear (By similari
PDB 4EGC
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF16878 SIX1_SD 9 119 Transcriptional regulator, SIX1, N-terminal SD domain Domain
PF00046 Homeodomain 127 181 Homeodomain Domain
Tissue specificity TISSUE SPECIFICITY: Specifically expressed in skeletal muscle.
Sequence
MSMLPSFGFTQEQVACVCEVLQQGGNLERLGRFLWSLPACDHLHKNESVLKAKAVVAFHR
GNFRELYKILESHQFSPHNHPKLQQLWLKAHYVEAEKLRGRPLGAVGKYRVRRKFPLPR
T
IWDGEETSYCFKEKSRGVLREWYAHNPYPSPREKRELAEATGLTTTQVSNWFKNRRQRDR
A
AEAKERENTENNNSSSNKQNQLSPLEGGKPLMSSSEEEFSPPQSPDQNSVLLLQGNMGH
ARSSNYSLPGLTASQPSHGLQTHQHQLQDSLLGPLTSSLVDLGS
Sequence length 284
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG 
  Transcriptional misregulation in cancer  
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
329
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Autosomal dominant nonsyndromic hearing loss Likely pathogenic rs2140241235 RCV001794854
Autosomal dominant nonsyndromic hearing loss 23 Pathogenic; Likely pathogenic rs1303947821, rs1064794308, rs797044960, rs104894478, rs80356459, rs80356460, rs2502644085, rs1895003578, rs1060499595 RCV004794547
RCV002027546
RCV000190433
RCV000679883
RCV002512919
RCV000008808
RCV003810275
RCV004585131
RCV000477918
Branchiootic syndrome Pathogenic rs104894478 RCV004719033
Branchiootic syndrome 3 Likely pathogenic; Pathogenic rs2140241235, rs1064794308, rs863223330, rs797044960, rs104894478, rs80356459, rs80356460, rs121909770, rs2502644174, rs2502643915, rs2502644085, rs761906849, rs2502639357, rs1060499595, rs1895001312 RCV001568419
RCV002027546
RCV000201277
RCV001852527
RCV000008806
RCV000008807
RCV000020636
RCV000008809
RCV003229777
RCV003229778
RCV003810275
RCV003991289
RCV003991933
RCV000477918
RCV003223408
RCV001250998
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Branchiootic syndrome 1 Conflicting classifications of pathogenicity rs104894478 RCV000857227
Branchiootorenal Spectrum Disorders Uncertain significance; Benign; Likely benign rs886050570, rs112733948, rs886050567, rs561797428, rs3832952, rs148821608, rs33943216, rs556041829, rs79926530 RCV000343348
RCV000297057
RCV000293322
RCV000281088
RCV000392941
RCV000361412
RCV000287712
RCV000395530
RCV000320000
RCV000306945
Hearing impairment Uncertain significance; Conflicting classifications of pathogenicity rs2140241207, rs2140241237, rs1051653507 RCV001375101
RCV001375100
RCV001375398
Nonsyndromic Hearing Loss, Dominant Uncertain significance; Benign; Likely benign rs886050570, rs112733948, rs886050567, rs561797428, rs3832952, rs148821608, rs33943216, rs556041829, rs79926530 RCV000283699
RCV000402316
RCV000348348
RCV000331491
RCV000363723
RCV000261020
RCV000347233
RCV000350876
RCV000260181
RCV000345183
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 32016974
Asthma Associate 32065213
Astrocytoma Associate 26497896
Atherosclerosis Associate 34894925
Branchio Oto Renal Syndrome Associate 15141091, 17357085, 18666230, 19215039, 19497856, 21280147, 23840632, 31595699, 35545373, 37479820
Branchiootic Syndrome 3 Associate 18666230
Breast Neoplasms Associate 21706047, 22286770, 26408179, 26773176, 29455928, 33299122, 34711117
Breast Neoplasms Stimulate 38031089
Cakut Associate 37499630
Capillary Malformation Arteriovenous Malformation Associate 31595699