SIX1 - SIX homeobox 1 Gene

Also Known as BOS3; TIP39; DFNA23

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 6495

About SIX1

Cytogenetic location: 14q23.1 Genomic coordinates (GRCh38): 14:60,643,421-60,649,477 (from NCBI)

This gene has 5 transcripts (splice variants), 213 orthologues, 6 paralogues and is associated with 56 phenotypes. Biased expression in salivary gland (RPKM 12.9), prostate (RPKM 9.2) and 6 other tissues.

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]

SIX1 Products (1)

mRNA	Protein	Name
NM_005982.4	NP_005973.1	homeobox protein SIX1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Verweise	Source
enables DNA binding	IDA IDA: Inferred from direct assay	19497856	GOA
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IDA IDA: Inferred from direct assay	15141091	GOA
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IMP IMP: Inferred from mutant phenotype	15141091	GOA
enables DNA-binding transcription factor activity	IDA IDA: Inferred from direct assay	19497856	GOA
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA IDA: Inferred from direct assay	15141091	GOA
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IMP IMP: Inferred from mutant phenotype	15141091	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	15141091	GOA
enables sequence-specific DNA binding	IDA IDA: Inferred from direct assay	15141091	GOA
enables sequence-specific double-stranded DNA binding	IDA IDA: Inferred from direct assay	28473536	GOA
enables transcription cis-regulatory region binding	IDA IDA: Inferred from direct assay	16670092	GOA

Biological Process GO Annotation	Evidence	Verweise	Source
involved in positive regulation of DNA-templated transcription	IMP IMP: Inferred from mutant phenotype	27923061	GOA
involved in positive regulation of transcription by RNA polymerase II	IDA IDA: Inferred from direct assay	15141091	GOA
involved in positive regulation of transcription by RNA polymerase II	IMP IMP: Inferred from mutant phenotype	15141091	GOA
involved in protein localization to nucleus	IDA IDA: Inferred from direct assay	19497856	GOA

Cellular Component GO Annotation	Evidence	Verweise	Source
located in nucleus	IDA IDA: Inferred from direct assay	16670092	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SIX1 Protein Structure

Homeobox

0
100
200
284 a.a.

Protein Preferred Names	Protein Names
homeobox protein SIX1	sine oculis homeobox homolog 1

SIX1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Verweise
Intra	SIX1	Q15475	REL	Homo sapiens	Q04864-2	Y2H Array	32296183
Intra	SIX1	Q15475	REL	Homo sapiens	Q04864-2	Y2H Prey Pooling	32296183
Intra	SIX1	Q15475	TLE5	Homo sapiens	Q08117-2	Y2H Bait-Prey Pool	25910212
Intra	SIX1	Q15475	TLE5	Homo sapiens	Q08117-2	Y2H Array	32296183
Intra	SIX1	Q15475	TLE5	Homo sapiens	Q08117-2	Validated Y2H	25910212
Intra	SIX1	Q15475	TLE5	Homo sapiens	Q08117-2	Y2H Array	25910212
Intra	SIX1	Q15475	TLE5	Homo sapiens	Q08117-2	Y2H Prey Pooling	32296183
Intra	SIX1	Q15475	TLE3	Homo sapiens	Q04726-4	Y2H Prey Pooling	32296183
Intra	SIX1	Q15475	TLE3	Homo sapiens	Q04726-4	Y2H Array	32296183
Intra	SIX1	Q15475	POU6F2	Homo sapiens	P78424	Y2H Array	32296183
Intra	SIX1	Q15475	POU6F2	Homo sapiens	P78424	Y2H Prey Pooling	32296183
Intra	SIX1	Q15475	EYA1	Homo sapiens	Q99502	Anti Tag CoIP	33961781
Intra	SIX1	Q15475	EYA1	Homo sapiens	Q99502	Y2H Prey Pooling	32296183
Intra	SIX1	Q15475	EYA1	Homo sapiens	Q99502	Anti Tag CoIP	28514442
Intra	SIX1	Q15475	EYA1	Homo sapiens	Q99502	Validated Y2H	32296183
Intra	SIX1	Q15475	EYA1	Homo sapiens	Q99502	Y2H Array	32296183
Intra	SIX1	Q15475	EYA2	Homo sapiens	O00167-2	Y2H Array	32296183
Intra	SIX1	Q15475	EYA2	Homo sapiens	O00167-2	Y2H Prey Pooling	32296183
Intra	SIX1	Q15475	H2AP	Homo sapiens	O75409	Y2H Prey Pooling	32296183
Intra	SIX1	Q15475	H2AP	Homo sapiens	O75409	Y2H Array	32296183
Intra	SIX1	Q15475	TLE5	Homo sapiens	Q08117	Y2H Prey Pooling	25416956
Intra	SIX1	Q15475	MDFI	Homo sapiens	Q99750	Pull Down	16189514
Intra	SIX1	Q15475	EYA2	Homo sapiens	O00167	GMS	19497856
Intra	SIX1	Q15475	PLEKHG4	Homo sapiens	Q58EX7	Validated Y2H	32296183
Intra	SIX1	Q15475	PLEKHG4	Homo sapiens	Q58EX7	Y2H Array	32296183
Intra	SIX1	Q15475	PLEKHG4	Homo sapiens	Q58EX7	Y2H Prey Pooling	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Branchiootic Syndrome 3	BOS3 Bo Syndrome 3 Branchio-Otic Dysplasia 3 Branchio-Otic Syndrome 3 Branchiootic Syndrome, Type 3
Deafness, Autosomal Dominant 23	DFNA23 Autosomal Dominant Nonsyndromic Deafness 23 Autosomal Dominant Deafness 23 Deafness, Autosomal Dominant, 23 Deafness, Autosomal Dominant, Type 23
Branchiootorenal Syndrome 1	Melnick-Fraser Syndrome BOR1 Branchiootorenal Dysplasia Branchiootorenal Syndrome 1, With Or Without Cataracts Bor Syndrome 1 Branchiootorenal Dysplasia 1 Branchio-Oto-Renal Dysplasia 1 Branchio-Oto-Renal Syndrome Type 1 Branchiootorenal Syndrome, With/Without Cataract, Type 1 Branchio-Oto-Renal Syndrome
Branchiootic Syndrome 1	Anterior Segment Anomalies With Or Without Cataract BOS1 Bo Syndrome 1 Branchiootic Dysplasia ASA Branchio-Otic Dysplasia 1 Branchio-Otic Syndrome 1 Branchiootic Syndrome, Type 1
Branchiootorenal Syndrome	Branchio-Oto-Renal Syndrome Bor Syndrome Branchiootorenal Dysplasia Melnick-Fraser Syndrome Branchiootorenal Spectrum Disorders Branchio-Otorenal Dysplasia Branchio Oto Renal Syndrome Branchiootorenal/Branchiootic Syndrome Bo Syndrome Bor Bos Branchio-Otorenal Syndrome Branchiootic Syndrome Branchiootorenal Syndrome Branchiootic Syndrome 1
Branchiootic Syndrome	Bo Syndrome Branchiootic Dysplasia Bor Bo Syndrome 1 Bos1 Branchiootic Syndrome 1
Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna	Autosomal Dominant Isolated Neurosensory Deafness Type Dfna Autosomal Dominant Isolated Neurosensory Hearing Loss Type Dfna Autosomal Dominant Isolated Sensorineural Deafness Type Dfna Autosomal Dominant Isolated Sensorineural Hearing Loss Type Dfna Autosomal Dominant Non-Syndromic Neurosensory Deafness Type Dfna Autosomal Dominant Non-Syndromic Neurosensory Hearing Loss Type Dfna Autosomal Dominant Non-Syndromic Sensorineural Hearing Loss Type Dfna
Deafness, Unilateral	Unilateral Deafness
Urinary System Disease	Abnormality Of The Urinary System Non-Neoplastic Urinary Tract Disease Urinary Tract Disease Urinary Tract Diseases Urinary Tract Anomaly Urologic Diseases Non-Neoplastic Urinary System Disorder Congenital Malformation Of The Urinary System
Papillorenal Syndrome	Renal Coloboma Syndrome Coloboma Of Optic Nerve With Renal Disease Renal-Coloboma Syndrome Optic Nerve Coloboma With Renal Disease Optic Coloboma, Vesicoureteral Reflux, And Renal Anomalies Renal-Coloboma Syndrome With Macular Abnormalities Congenital Anomalies Of The Kidney And Urinary Tract With Or Without Ocular Abnormalities Cakut With Or Without Ocular Abnormalities PAPRS Optic Coloboma, Vesicoureteral Reflux And Renal Anomalies Papillo-Renal Syndrome, Optic Nerve Coloboma With Renal Disease Coloboma-Ureteral-Renal Syndrome Oncr Optic Nerve Coloboma Renal Syndrome Rcs Papillo-Renal Syndrome Optic Coloboma Vesicoureteral Reflux And Renal Anomalies
Fraser Syndrome 1	Fraser Syndrome Cryptophthalmos With Other Malformations Cryptophthalmos Syndrome FRASRS1 Cryptophthalmos-Syndactyly Syndrome Fraser-Francois Syndrome Cyclopism Meyer-Schwickerath'S Syndrome Ulrich-Feichtiger Syndrome Cryptophthalmos Syndactyly Syndrome Fraser'S Syndrome Meyer-Schwickerath Syndrome Ullrich-Feichtiger Syndrome
Deafness, Autosomal Dominant 10	DFNA10 Autosomal Dominant Nonsyndromic Deafness 10 Autosomal Dominant Deafness 10 Deafness, Autosomal Dominant, 10 Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 10 Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 10 Deafness, Autosomal Dominant, Type 10
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type	Wilson-Turner Syndrome WTS Mrxs6 X-Linked Intellectual Disability-Gynecomastia-Obesity Syndrome Mrxswt Wilson-Turner X-Linked Mental Retardation Syndrome Mental Retardation, X-Linked, Syndromic 6 Mental Retardation, X-Linked, With Gynecomastia And Obesity Intellectual Disability, X-Linked, Syndromic 6 Intellectual Disability, X-Linked, With Gynecomastia And Obesity Wilson Turner Intellectual Disability Syndrome X-Linked Intellectual Disability - Gynecomastia - Obesity
Patulous Eustachian Tube	Pet
Townes-Brocks Syndrome	Townes Syndrome Renal-Ear-Anal-Radial Syndrome Anus, Imperforate, With Hand, Foot And Ear Anomalies Imperforate Anus-Hand, Foot And Ear Anomalies Syndrome Rear Syndrome Sensorineural Deafness With Imperforate Anus And Hypoplastic Thumbs Tbs Deafness, Sensorineural, With Imperforate Anus And Hypoplastic Thumbs Imperforate Anus With Hand, Foot And Ear Anomalies Anal-Ear-Renal-Radial Malformation Syndrome Deafness-Imperforate Anus-Hypoplastic Thumbs Syndrome Imperforate Anus-Hand And Foot Anomalies Syndrome Sensorineural Deafness-Imperforate Anus-Hypoplastic Thumbs Syndrome Sensorineural Hearing Loss With Imperforate Anus And Hypoplastic Thumbs
Renal Hypoplasia
Renal Hypodysplasia/Aplasia 1	Renal Agenesis Renal Adysplasia Renal Aplasia RHDA1 Hereditary Renal Aplasia Hra Hereditary Urogenital Adysplasia Hypodysplasia/Aplasia, Renal, Type 1 Congenital Absence Of Kidneys Syndrome Congenital Absence Of Kidney Aplastic Kidney
Glaucoma, Primary Open Angle	Glaucoma 1, Open Angle, E Primary Open Angle Glaucoma POAG Adult-Onset Primary Open Angle Glaucoma Chronic Simple Glaucoma GLC1E Primary Open Angle Glaucoma 1e Glaucoma, Open Angle, Primary
Kidney Disease	Renal Failure Kidney Failure Kidney Diseases Nephropathy Abnormality Of The Kidney Impaired Renal Function Disease Renal Anomaly Kidney Dysfunction Renal Disease Nephropathies Renal Failure Adverse Event Abnormal Renal Function
Glaucoma, Normal Tension	Low Tension Glaucoma Glaucoma, Normal Tension, Susceptibility To Normal Tension Glaucoma Ntg Glaucoma, Normal Pressure NPG Glaucoma, Normal Pressure, Susceptibility To Poag/Npg - [Normal Pressure Primary Open-Angle Glaucoma]
Lung Cancer	Lung Carcinoma Non-Small Cell Lung Carcinoma Lung Cancer, Susceptibility To Lung Cancer, Protection Against Adenocarcinoma Of Lung, Somatic Adenocarcinoma Of Lung, Response To Tyrosine Kinase Inhibitor In Nonsmall Cell Lung Cancer Lung Neoplasm Carcinoma Of Lung Lung Non-Small Cell Carcinoma Non-Small Cell Lung Cancer Nsclc Lung Neoplasms Malignant Neoplasm Of Lung Alveolar Cell Carcinoma Nonsmall Cell Lung Cancer, Somatic Nonsmall Cell Lung Cancer, Response To Tyrosine Kinase Inhibitor In Nonsmall Cell Lung Cancer, Susceptibility To Lung Cancer, Somatic Lung Cancer, Resistance To Cancer Of Lung Cancer Of Bronchus Cancer Of The Lung Lung Malignancies Lung Malignant Tumors Malignant Lung Tumor Malignant Tumor Of Lung Pulmonary Cancer Pulmonary Carcinoma Pulmonary Neoplasms Respiratory Carcinoma LNCR Adenocarcinoma Of Lung Neoplasm Of Lung Cancer Lung Carcinoma Non-Small Cell Lung Carcinoma, Non-Small-Cell Lung Lung Cancers Lung Carcinomas Cancer, Lung Cancer, Lung, Non-Small Cell Primary Malignant Neoplasm Of Lung Bronchioloalveolar Adenocarcinoma
Cakut	Renal Or Urinary Tract Malformation Congenital Anomalies Of Kidney And Urinary Tract Congenital Anomaly Of Kidney And Urinary Tract Congenital Anomalies Of The Kidney And Urinary Tract Kidney And Urinary Tract, Anomalies, Congenital Renal Hypodysplasia, Nonsyndromic, 1
Syndromic X-Linked Intellectual Disability	X-Linked Syndromic Intellectual Disability
Vesicoureteral Reflux	Vesico-Ureteral Reflux
Wilms Tumor 1	Nephroblastoma Wilms Tumor WT1 Wilms' Tumor Bilateral Wilms Tumor Wilms Tumor, Type 1 Wilms Tumor, Somatic Adult Nephroblastoma Wt1 Disorder Renal Embryonic Tumor Adult Kidney Wilms Tumor Childhood Kidney Wilms Tumor Nonanaplastic Kidney Wilms Tumor
Syndromic Intellectual Disability
Autosomal Dominant Nonsyndromic Deafness	Autosomal Dominant Deafness

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (4)

Art. -Nr.	Produktname	Wirkung	Reinheit	Rare Diseases
HY-138657	NCGC00378430	Inhibitor	98.07%	Unkown
HY-RS12958	SIX1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS17696	Six1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS24158	Six1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	SIX1	RGD	RGD:620906
Felis catus	SIX1	VGNC	VGNC:65163
Bos taurus	SIX1	VGNC	VGNC:54483
Mus musculus	SIX1	MGD	MGI:102780
Canis familiaris	SIX1	VGNC	VGNC:46190
Others	SIX1	NCBI