Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
6495
Gene name Gene Name - the full gene name approved by the HGNC.
SIX homeobox 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SIX1
Synonyms (NCBI Gene) Gene synonyms aliases
BOS3, DFNA23, TIP39
Chromosome Chromosome number
14
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
14q23.1
Summary Summary of gene provided in NCBI Entrez Gene.
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.
miRTarBase ID miRNA Experiments Reference
MIRT005550 hsa-miR-185-5p Luciferase reporter assay, qRT-PCR, Quantitative proteomic approach, Western blot 20603620
MIRT005550 hsa-miR-185-5p Luciferase reporter assay, qRT-PCR, Quantitative proteomic approach, Western 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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
601205 10887 ENSG00000126778
Protein
UniProt ID 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  
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Branchiootic syndrome Branchiootic syndrome 3 rs80356459, rs80356460, rs121909770, rs863223330, rs797044960, rs1064794308, rs104894478 N/A
Deafness Autosomal dominant nonsyndromic hearing loss 23 rs80356460, rs797044960, rs104894478 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
hearing impairment Hearing impairment N/A N/A ClinVar
Nonsyndromic Deafness Nonsyndromic Hearing Loss, Dominant N/A N/A ClinVar
Prostate cancer Prostate cancer N/A N/A GWAS
Associations from Text Mining Disease 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