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SIX1 (SIX homeobox 1)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
6495
Gene nameGene Name - the full gene name approved by the HGNC.
SIX homeobox 1
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
SIX1
SynonymsGene synonyms aliases
BOS3, DFNA23, TIP39
ChromosomeChromosome number
14
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
14q23.1
SummarySummary 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
miRNAmiRNA 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 regulatory region sequence-specific DNA binding IDA 16670092
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA 21873635
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA 15141091
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
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
Sequence
MSMLPSFGFTQEQVACVCEVLQQGGNLERLGRFLWSLPACDHLHKNESVLKAKAVVAFHR
GNFRELYKILESHQFSPHNHPKLQQLWLKAHYVEAEKLRGRPLGAVGKYRVRRKFPLPR
T
IWDGEETSYCFKEKSRGVLREWYAHNPYPSPREKRELAEATGLTTTQVSNWFKNRRQRDR
A
AEAKERENTENNNSSSNKQNQLSPLEGGKPLMSSSEEEFSPPQSPDQNSVLLLQGNMGH
ARSSNYSLPGLTASQPSHGLQTHQHQLQDSLLGPLTSSLVDLGS
Sequence length 284
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
 
KEGG
 
  Transcriptional misregulation in cancer  
Associated diseases
Causal
Disease name Disease term dbSNP ID References
Anterior segment anomalies ANTERIOR SEGMENT ANOMALIES WITH OR WITHOUT CATARACT rs121909197 15141091
Branchiooculofacial syndrome Branchio-Oculo-Facial Syndrome rs121909196, rs121909574, rs121909575, rs267607108, rs151344525, rs793888540, rs793888541, rs151344530, rs1554110735, rs1554110673, rs1554110994, rs151344531, rs151344528, rs1554111717, rs1554111734, rs1554111751, rs1554112492, rs1554111749, rs1581262652, rs151344527
Branchiootic syndrome BRANCHIOOTIC SYNDROME 3 (disorder), BRANCHIOOTIC SYNDROME 1, Branchiootic syndrome rs121909196, rs121909202, rs606231356, rs104894478, rs80356459, rs80356460, rs121909770, rs863223330, rs797044960, rs1064794308, rs1131691667, rs1563630117, rs397517917, rs1816289467 15141091, 18330911, 19497856, 9770533, 17637804, 10777717, 21280147, 23435380, 15141091
Branchiootorenal syndrome Branchio-Oto-Renal Syndrome, Branchiootorenal Syndrome 2 rs80356463 19389353, 24164807, 15141091, 9770533, 19497856, 12874121, 21254961, 21700001, 18330911, 29500469, 17637804
Unknown
Disease name Disease term dbSNP ID References
Bor syndrome BOR syndrome
Branchial clefts-congenital disorder Branchial Clefts-Congenital disorder
Branchioma Branchioma
Cholesteatoma Cholesteatoma rs121918685, rs754529382, rs1843064220

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