1. Gene
  2. TRPS1 - transcriptional repressor GATA binding 1 Gene

TRPS1 - transcriptional repressor GATA binding 1 Gene

中文名称:转录抑制因子 GATA 结合 1

种属: Homo sapiens

同用名: GC79; LGCR

基因 ID: 7227 | 基因类型: protein coding

关于 TRPS1

Cytogenetic location: 8q23.3 Genomic coordinates (GRCh38): 8:115,408,496-115,668,975 (from NCBI)

This gene has 12 transcripts (splice variants), 211 orthologues, 7 paralogues and is associated with 6 phenotypes. Ubiquitous expression in esophagus (RPKM 4.1), gall bladder (RPKM 3.6) and 24 other tissues.

功能概要

该基因编码的转录因子可抑制 GATA 调节基因并与动力蛋白轻链蛋白结合。编码蛋白与动力蛋白轻链蛋白的结合会影响与 GATA 共有序列的结合并抑制其转录活性。该基因的缺陷是导致 I-III 型毛-鼻-指骨综合征 (TRPS) 的原因。[RefSeq 提供,2008 年 7 月]

This gene encodes a transcription factor that represses GATA-regulated genes and binds to a dynein LIGHT chain protein. Binding of the encoded protein to the dynein LIGHT chain protein affects binding to GATA consensus sequences and suppresses its transcriptional activity. Defects in this gene are a cause of tricho-rhino-phalangeal syndrome (TRPS) types I-III. [provided by RefSeq, Jul 2008]

TRPS1 基因产物(4)

mRNA Protein Name
NM_001282902.3 NP_001269831.1 zinc finger transcription factor Trps1 isoform 2
NM_001282903.3 NP_001269832.1 zinc finger transcription factor Trps1 isoform 3
NM_001330599.2 NP_001317528.1 zinc finger transcription factor Trps1 isoform 4
NM_014112.5 NP_054831.2 zinc finger transcription factor Trps1 isoform 1
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables DNA-binding transcription repressor activity, RNA polymerase II-specific IDA
IDA: 通过直接分析推断
14680804 GOA
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding IDA
IDA: 通过直接分析推断
14680804 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
12885770 GOA
enables protein domain specific binding IPI
IPI: 通过物理相互作用推断
15491138 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in negative regulation of transcription by RNA polymerase II IDA
IDA: 通过直接分析推断
12885770 GOA
involved in skeletal system development IMP
IMP: 通过突变表型推断
10615131 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in chromatin IDA
IDA: 通过直接分析推断
21673316 GOA
located in nucleus IDA
IDA: 通过直接分析推断
12885770 GOA
part of protein-containing complex IMP
IMP: 通过突变表型推断
15491138 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

TRPS1 蛋白结构

GATA

GATA: GATA zinc finger (896 - 929)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1000
  • 1200
  • 1281 a.a.
蛋白主名 其他名称

zinc finger transcription factor Trps1

tricho-rhino-phalangeal syndrome type I protein

关联疾病

疾病名称 别名
Trichorhinophalangeal Syndrome, Type I

Trichorhinophalangeal Dysplasia Type I

TRPS1

Trichorhinophalangeal Syndrome Type I

Trps I

Trichorhinophalangeal Syndrome Type 1

Type I Trichorhinophalangeal Syndrome

Giedion Syndrome

Trp Syndrome

Tricho-Rhino-Phalangeal Syndrome 1

Trichorhinophalangeal Syndrome, Type Iii

Trichorhinophalangeal Syndrome, Type Iii

Trichorhinophalangeal Syndrome Type Iii

TRPS3

Sugio-Kajii Syndrome

Trichorhinophalangeal Syndrome Type 3

Trps 3

Tricho-Rhino-Phalangeal Syndrome 3

Trichorhinophalangeal Syndrome Type 1 And 3

Trichorhinophalangeal Syndrome Type I Or Iii

Trichorhinophalangeal Syndrome

Tricho-Rhino-Phalangeal Syndrome

Trps

Trichorhinophalangeal Syndrome, Type Ii

Langer-Giedion Syndrome

Lgs

Trichorhinophalangeal Syndrome Type Ii

Trichorhinophalangeal Syndrome Type 2

TRPS2

Monosomy 8q24.1

Chromosome 8q24.1 Deletion Syndrome

Deletion 8q24.1

Giedion-Langer Syndrome

Trichorhinophalangeal Dysplasia Type Ii

Langer Giedion Syndrome

Trps 2

Tricho-Rhino-Phalangeal Syndrome Type Ii

Trichorhinophalangeal Syndrome With Exostosis

Trps Ii

Tricho-Rhino-Phalangeal Syndrome 2

8q24.1 Microdeletion Syndrome

8q24.1 Deletion Syndrome

Brachydactyly
Alopecia Areata

Aa

Alopecia Celsi

Alopecia Circumscripta

Cazenave'S Vitiligo

Celsus' Vitiligo

Diffuse Alopecia

Jonston'S Alopecia

Marginal Alopecia

Pseudopelade

Circumscribed Alopecia

Alopecia Cicatrisata

Patchy Alopecia

Alopecia

Aa - [Alopecia Areata]

Pelade

Orthostatic Intolerance

Mitral Valve Prolapse

Neurocirculatory Asthenia

Mitral Valve Prolapse Syndrome

Irritable Heart

Systolic Click-Murmur Syndrome

Soldiers Heart

Cardiovascular Malfunction Arising From Mental Factors

Cardiovascular Neurosis

Da Costa'S Syndrome

Krishaber'S Disease

Barlow'S Syndrome

Floppy Mitral Valve

Mitral Leaflet Syndrome

Myxomatous Mitral Valve Prolapse

Postural Orthostatic Tachycardia Syndrome Due To Net Deficiency

Familial Orthostatic Tachycardia Due To Norepinephrine Transporter Deficiency

Orthostatic Intolerance Due To Net Deficiency

Pots Due To Net Deficiency

OI

Intolerance, Orthostatic

Mitral Valve Prolapse, Familial, X-Linked

Ballooning Mitral Valve

Barlow Syndrome

Flail Mitral Leaflet

Myxomatous Mitral Valve

Mitral Valve Prolapse-Click Syndrome

Prolapsing Mitral Valve Leaflet Syndrome

Billowing Mitral Valve Leaflet

Posterior Mitral Leaflet Deformity

Ballooning Posterior Leaflet Syndrome

Blue Valve Syndrome

Floppy Mitral Valve Syndrome

Mitral Valvular Prolapse

Systolic Click Syndrome

Craniosynostosis

Premature Closure Of Cranial Sutures

Craniostenosis

Craniosynostosis Syndrome

Cso

Craniosynostoses

Congenital Ossification Of Cranial Sutures

Congenital Ossification Of Sutures Of Skull

Craniostosis

Imperfect Fusion Of Skull

Congenital Imperfect Closure Skull

Imperfect Closure Skull

Premature Closure Cranium Sutures

Deficiency Of Craniofacial Axis

Hereditary Multiple Exostoses

Multiple Congenital Exostosis

Hereditary Multiple Exostoses 1

Hereditary Multiple Exostoses 2

Hereditary Multiple Exostoses 3

Multiple Exostosis Syndromes

Multiple Ostechondromas

Osteochondromatosis Syndrome

Exostoses Multiple Hereditary

Exostoses, Multiple Hereditary

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

Hypertrichosis
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects

Cornelia De Lange Syndrome 4

CDLS4

Cornelia De Lange Syndrome, Type 4

Hypertrichosis Universalis Congenita, Ambras Type

Ambras Syndrome

Hypertrichosis, Congenital Generalized

HTC1

HTC2

Chromosome Xq27.1 Interchromosomal Insertion Syndrome

Cgh

Hcg

Ambras Type Hypertrichosis Universalis Congenita

X-Linked Congenital Generalized Hypertrichosis

Congenital Generalized Hypertrichosis, Macias-Flores Type

Macias Flores-Garcia Cruz-Rivera Syndrome

Htc 1

Hypertrichosis Universalis Congenita Ambras Type

Hypertrichosis Congenital Generalized X-Linked

Macias-Flores Garcia-Cruz Rivera Syndrome

Congenital Generalized Hypertrichosis, Ambras Type

Pseudohypoparathyroidism

Familial Pseudohypoparathyroidism

Parathyroid Hormone Resistant Hypoparathyroidism

Php - [Pseudohypoparathyroidism]

Constitutional Chronic Hypocalcaemia

Hypertension And Brachydactyly Syndrome

Brachydactyly With Hypertension

Bilginturan Syndrome

HTNB

Brachydactyly-Arterial Hypertension Syndrome

Brachydactyly, Type E, With Short Stature And Hypertension

Bilginturan Brachydactyly

Brachydactyly Type E With Short Stature And Hypertension

Type E Brachydactyly With Short Stature And Hypertension

Brachydactyly Type E, With Short Stature And Hypertension

Hypertension With Brachydactyly

Prostate Cancer

Prostate Carcinoma

Prostate Cancer, Familial

Prostate Neoplasm

Prostate Cancer, Somatic

Prostate Cancer, Susceptibility To

Prostatic Cancer

Prostatic Neoplasms

Hereditary Prostate Cancer

Prostatic Neoplasm

Cancer Of Prostate

Carcinoma Of Prostate

Familial Prostate Cancer

Familial Prostate Carcinoma

Malignant Tumor Of Prostate

Malignant Neoplasm Of Prostate

Prostate Cancer, Familial, Susceptibility To

Malignant Tumor Of The Prostate

Ngp - New Growth Of Prostate

Tumor Of The Prostate

Prostate Cancer, Hereditary

Cancer Of The Prostate

Malignant Neoplasm Of The Prostate

Prostatic Carcinoma

PC

Prca

Cancer, Prostate

Malignant Prostatic Tumour

Malignant Tumour Of Prostate

Primary Prostate Cancer

Primary Malignant Neoplasm Of Prostate

Prostate Gland Cancer

Retinitis Pigmentosa 56

RP56

Maculopathy, Impg2-Related

MACLP-IMPG2

Retinitis Pigmentosa, Type 56

Neonatal Respiratory Failure

Respiratory Failure Of Newborn

Inadequate Pulmonary Ventilation Of Newborn

Newborn Lung Insufficiency

Newborn Pulmonary Function Inadequate

Newborn Pulmonary Insufficiency

Newborn Respiration Failure

Newborn Respiratory Insufficiency

Respiratory Insufficiency Syndrome Of Newborn

Cornelia De Lange Syndrome

De Lange Syndrome

Brachmann De Lange Syndrome

Brachmann-De Lange Syndrome

Cdls

Bdls

Typus Degenerativus Amstelodamensis

Osteochondrodysplasia

Skeletal Dysplasia

Chondrodystrophy

Congenital Anomaly Of Cartilage

Osteochondrodysplasias

Cartilage Development Disorder

Osteochondrodysplasia Syndrome

Dysplasia, Skeletal

Mucopolysaccharidosis Iv

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
Felis catus TRPS1 VGNC VGNC:66593
Bos taurus TRPS1 VGNC VGNC:36395
Mus musculus TRPS1 MGD MGI:1927616
Macaca mulatta TRPS1 VGNC VGNC:78656
Canis familiaris TRPS1 VGNC VGNC:47880
Rattus norvegicus TRPS1 RGD RGD:1311883