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  2. SIX1 - SIX homeobox 1 Gene

SIX1 - SIX homeobox 1 Gene

中文名称:六个同源框 1

种属: Homo sapiens

同用名: BOS3; TIP39; DFNA23

基因 ID: 6495 | 基因类型: protein coding

关于 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.

功能概要

该基因编码的蛋白质是一种同源框蛋白,类似于果蝇“sine oculis”基因产物。该基因存在于 14 号染色体上的一组相关基因中,被认为与肢体发育有关。该基因的缺陷是导致 23 型常染色体显性耳聋 (DFNA23) 和 3 型鳃炎综合征 (BOS3) 的原因。[RefSeq 提供,2008 年 7 月]

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 基因产物(1)

mRNA Protein Name
NM_005982.4 NP_005973.1 homeobox protein SIX1
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in positive regulation of DNA-templated transcription IMP
IMP: 通过突变表型推断
27923061 GOA
involved in positive regulation of transcription by RNA polymerase II IDA
IDA: 通过直接分析推断
15141091 GOA
involved in positive regulation of transcription by RNA polymerase II IMP
IMP: 通过突变表型推断
15141091 GOA
involved in protein localization to nucleus IDA
IDA: 通过直接分析推断
19497856 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in nucleus IDA
IDA: 通过直接分析推断
16670092 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

SIX1 蛋白结构

Homeobox

Homeobox: Homeobox domain (131 - 180)

  • 0
  • 100
  • 200
  • 284 a.a.
蛋白主名 其他名称

homeobox protein SIX1

sine oculis homeobox homolog 1

SIX1 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
SIX1 Q15475 REL Homo sapiens Q04864-2 32296183
种属内
SIX1 Q15475 REL Homo sapiens Q04864-2 32296183
种属内
SIX1 Q15475 TLE5 Homo sapiens Q08117-2 25910212
种属内
SIX1 Q15475 TLE5 Homo sapiens Q08117-2 32296183
种属内
SIX1 Q15475 TLE5 Homo sapiens Q08117-2 25910212
种属内
SIX1 Q15475 TLE5 Homo sapiens Q08117-2 25910212
种属内
SIX1 Q15475 TLE5 Homo sapiens Q08117-2 32296183
种属内
SIX1 Q15475 TLE3 Homo sapiens Q04726-4 32296183
种属内
SIX1 Q15475 TLE3 Homo sapiens Q04726-4 32296183
种属内
SIX1 Q15475 POU6F2 Homo sapiens P78424 32296183
种属内
SIX1 Q15475 POU6F2 Homo sapiens P78424 32296183
种属内
SIX1 Q15475 EYA1 Homo sapiens Q99502 33961781
种属内
SIX1 Q15475 EYA1 Homo sapiens Q99502 32296183
种属内
SIX1 Q15475 EYA1 Homo sapiens Q99502 28514442
种属内
SIX1 Q15475 EYA1 Homo sapiens Q99502 32296183
种属内
SIX1 Q15475 EYA1 Homo sapiens Q99502 32296183
种属内
SIX1 Q15475 EYA2 Homo sapiens O00167-2 32296183
种属内
SIX1 Q15475 EYA2 Homo sapiens O00167-2 32296183
种属内
SIX1 Q15475 H2AP Homo sapiens O75409 32296183
种属内
SIX1 Q15475 H2AP Homo sapiens O75409 32296183
种属内
SIX1 Q15475 TLE5 Homo sapiens Q08117 25416956
种属内
SIX1 Q15475 MDFI Homo sapiens Q99750 16189514
种属内
SIX1 Q15475 EYA2 Homo sapiens O00167
GMS
19497856
种属内
SIX1 Q15475 PLEKHG4 Homo sapiens Q58EX7 32296183
种属内
SIX1 Q15475 PLEKHG4 Homo sapiens Q58EX7 32296183
种属内
SIX1 Q15475 PLEKHG4 Homo sapiens Q58EX7 32296183
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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