SIX1 - SIX homeobox 1 Gene

Homo sapiens

Also known as BOS3; TIP39; DFNA23

Gene ID: 6495 | Gene type: protein coding

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	Reference	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	Reference	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	Reference	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 Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
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

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-138657	NCGC00378430	Inhibitor	99.58%	Unkown
HY-RS12958	SIX1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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