1. Gene
  2. TRIP11 - thyroid hormone receptor interactor 11 Gene

TRIP11 - thyroid hormone receptor interactor 11 Gene

中文名称:甲状腺激素受体相互作用因子 11

种属: Homo sapiens

同用名: ODCD; ACG1A; CEV14; ODCD1; GMAP210; TRIP-11; TRIP230; GMAP-210

基因 ID: 9321 | 基因类型: protein coding

关于 TRIP11

Cytogenetic location: 14q32.12 Genomic coordinates (GRCh38): 14:91,965,991-92,040,059 (from NCBI)

This gene has 5 transcripts (splice variants), 214 orthologues and is associated with 86 phenotypes. Ubiquitous expression in thyroid (RPKM 9.3), kidney (RPKM 6.5) and 25 other tissues.

功能概要

该基因是根据其蛋白质产物与甲状腺激素受体 β 的相互作用而确定的。这种蛋白质与高尔基体有关。蛋白质的 N 端区域结合高尔基体膜,C 端区域结合微管的负端;因此,该蛋白质被认为在中心体周围的高尔基带结构的组装和维持中发挥作用。该基因的突变导致 IA 型软骨发育不全。[RefSeq 提供,2010 年 3 月]

This gene was identified based on the interaction of its protein product with Thyroid Hormone Receptor beta. This protein is associated with the Golgi apparatus. The N-terminal region of the protein binds Golgi membranes and the C-terminal region binds the minus ends of microtubules; thus, the protein is thought to play a role in assembly and maintenance of the Golgi ribbon structure around the centrosome. Mutations in this gene cause achondrogenesis type IA.[provided by RefSeq, Mar 2010]

TRIP11 基因产物(2)

mRNA Protein Name
NM_001321851.1 NP_001308780.1 thyroid receptor-interacting protein 11 isoform 2
NM_004239.4 NP_004230.2 thyroid receptor-interacting protein 11 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 protein binding IPI
IPI: 通过物理相互作用推断
17438371 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in Golgi ribbon formation IMP
IMP: 通过突变表型推断
25473115 GOA
involved in cartilage development IMP
IMP: 通过突变表型推断
30728324 GOA
involved in vesicle tethering to Golgi IMP
IMP: 通过突变表型推断
25473115 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in endoplasmic reticulum-Golgi intermediate compartment IDA
IDA: 通过直接分析推断
25473115 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
蛋白主名 其他名称

thyroid receptor-interacting protein 11

Golgi-microtubule-associated protein of 210 kDa

TRIP11 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
TRIP11 Q15643 HNRNPCL2 Homo sapiens B2RXH8 30021884
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
Odontochondrodysplasia 1

Goldblatt Syndrome

Odcd

Spondylometaphyseal Dysplasia With Dentinogenesis Imperfecta

Odontochondrodysplasia

ODCD1

Goldblatt Chondrodysplasia

Chondrodysplasia-Dentinogenesis Imperfecta-Joint Laxity Syndrome

Hypertension, Goldblatt

Achondrogenesis, Type Ia

Achondrogenesis Type Ia

Achondrogenesis Type 1a

ACG1A

Achondrogenesis, Houston-Harris Type

Achondrogenesis Houston-Harris Type

Achondrogenesis 1a

Acg-Ia

Connective Tissue Disease

Connective Tissue Diseases

Connective Tissue Disorder

Abnormality Of Connective Tissue

Disorder Of Connective Tissue

Connective Tissue Disorders

Achondrogenesis

Achondrogenesis Syndrome

Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly

SRTD10

Short-Rib Thoracic Dysplasia 10 Without Polydactyly

Short Rib-Polydactyly Syndrome

Spondyloepiphyseal Dysplasia Tarda, X-Linked

Spondyloepiphyseal Dysplasia Tarda

X-Linked Spondyloepiphyseal Dysplasia Tarda

SEDT

Sed Tarda, X-Linked

Spondyloepiphyseal Dysplasia, Late

Spondyloepiphyseal Dysplasia Tarda X-Linked

Sed

X Linked Spondyloepiphyseal Dysplasia Tarda

X-Linked Spondyloepiphyseal Dysplasia

Late Onset Spondyloepiphyseal Dysplasia

Sed Tarda

X-Linked Sed

X-Linked Sedt

Dysplasia, Spondyloepiphyseal, Tarda

Spondyloepiphyseal Dysplasia

Schneckenbecken Dysplasia

SHNKND

Chondrodysplasia, Lethal Neonatal, With Snail-Like Pelvis

Chondrodysplasia Lethal Neonatal With Snail Like Pelvis

Chondrodysplasia With Snail-Like Pelvis

Slc35d1-Cdg

Dysplasia, Schneckenbecken

Dentinogenesis Imperfecta

Hereditary Opalescent Dentin

Dentinogenesis Imperfecta Without Osteogenesis Imperfecta

Dgi

Capdepont Teeth

Dgi Without Oi

Di

Non-Syndromic Dgi

Non-Syndromic Dentinogenesis Imperfecta

Opalescent Teeth Without Oi

Opalescent Teeth Without Osteogenesis Imperfecta

Opalescent Dentin

Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type

Spondyloepimetaphyseal Dysplasia-Short Limb-Abnormal Calcification Syndrome

Smed-Sl

Smed-Sl/Ac

Smed Short Limb-Abnormal Calcification Type

Smed Short Limb-Hand Type

Spondylometaepiphyseal Dysplasia Short Limb-Hand Type

Smed, Type Ii

Smed Type 2

Spondylometaepiphyseal Dysplasia Short Limb-Abnormal Calcification Type

Smed, Short Limb-Hand Type

Spondylometaepiphyseal Dysplasia, Short Limb-Abnormal Calcification Type

Smed, Short Limb-Abnormal Calcification Type

Spondyloepimetaphyseal Dysplasia - Short Limb - Abnormal Calcification

Spondyloepimetaphyseal Dysplasia, Short Limb-Hand Type

SEMD-SL

Smed Type Ii

Dysplasia, Spondylometaepiphyseal, Short Limb-Hand Type

Greenberg Dysplasia

Hem Dysplasia

Greenberg Skeletal Dysplasia

Hem Skeletal Dysplasia

GRBGD

Hydrops-Ectopic Calcification-Moth-Eaten Skeletal Dysplasia

Moth-Eaten Skeletal Dysplasia

Chondrodystrophy, Hydropic And Prenatally Lethal Type

Hydrops-Ectopic Calcification-Motheaten Syndrome

Skeletal Dysplasia, Greenberg Type

Autosomal Recessive Lethal Chondrodystrophy With Congenital Hydrops

Hydrops, Ectopic Calcification, Moth-Eaten Skeletal Dysplasia

Hem

Hem/Greenberg Dysplasia

Hydrops - Ectopic Calcification - Moth-Eaten Skeletal Dysplasia

Cellular Congenital Mesoblastic Nephroma
Achondrogenesis, Type Ib

ACG1B

Achondrogenesis Type Ib

Achondrogenesis Type 1b

Achondrogenesis Ib

Achondrogenesis Fraccaro Type

Achondrogenesis, Fraccaro Type

Achondrogenesis, Parenti-Fraccaro Type

Achondrogenesis 1b

Acg-Ib

Fraccaro Achondrogenesis

Spondylocarpotarsal Synostosis Syndrome

SCT

Spondylocarpotarsal Syndrome

Vertebral Fusion With Carpal Coalition

Congenital Scoliosis With Unilateral Unsegmented Bar

Congenital Synspondylism

Spondylocarpotarsal Synostosis

Synspondylism, Congenital

Scoliosis, Congenital, With Unilateral Unsegmented Bar

Scoliosis, Congenital With Unilateral Unsegmented Bar

Synspondylism Congenital

Sct Syndrome

Synspondylism

Geroderma Osteodysplasticum

Gerodermia Osteodysplastica

Geroderma Osteodysplastica

GO

Walt Disney Dwarfism

Type Of Gerodermia Osteodysplastica

Boomerang Dysplasia

BOOMD

Boomerang-Like Skeletal Dysplasia

Dwarfism With Short, Bowed, Rigid Limbs And Characteristic Facies

Piepkorn Dysplasia

Dysplasia, Boomerang

Fibrochondrogenesis

Fbcg1

Fbcg2

Fibrochondrogenesis-1

Fibrochondrogenesis-2

Fibrochondrogenesis 1

Fibrochondrogenesis 2

Hypochondroplasia

HCH

Hypochondrodysplasia

Chondrogenesis Imperfecta

Hypochondroplastic Dwarfism

Hypochondroplastic Short Stature

Brachydactyly
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly

Asphyxiating Thoracic Dystrophy 3

Saldino-Noonan Syndrome

SRTD3

Atd3

Srps1

Srps3

Verma-Naumoff Syndrome

Srps2b

Short Rib-Polydactyly Syndrome, Verma-Naumoff Type

Short Rib-Polydactyly Syndrome, Type I

Polydactyly With Neonatal Chondrodystrophy, Type I

Polydactyly With Neonatal Chondrodystrophy, Type Iii

Short Rib-Polydactyly Syndrome, Type Iib

Short Rib-Polydactyly Syndrome Type 3

Polydactyly With Neonatal Chondrodystrophy Type Iii

Short Rib-Polydactyly Syndrome Type Iii

Short Rib-Polydactyly Syndrome Type 1

Short Rib-Polydactyly Syndrome, Saldino-Noonan Type

Majewski Syndrome

Short Rib-Polydactyly Syndrome, Type Iii

Type I Short Rib Polydactyly Syndrome

Srps Type 3

Short Rib Polydactyly Syndrome Verma Naumoff Type

Verma Naumoff Syndrome

Polydactyly With Neonatal Chondrodystrophy Type 1

Srps Type 1

Short Rib-Polydactyly Syndrome Saldino-Noonan Type

Jatd

Jeune Asphyxiating Thoracic Dystrophy

Jeune Syndrome 3

Polydactyly With Neonatal Chondrodystrophy Type I

Short Rib-Polydactyly Syndrome Type I

Short Rib-Polydactyly Syndrome Type Iib

Srps Type Iib

Srps Type Iii

Seckel Syndrome 1

SCKL1

Nanocephalic Dwarfism

Microcephalic Primordial Dwarfism I

Seckel-Type Dwarfism

Bird-Headed Dwarfism

Sckl

Seckel Syndrome, Type 1

Seckel Syndrome

Pelger-Huet Anomaly

PHA

Pelger-Huët Anomaly

Ovoid Neutrophil Nuclei, Developmental Delay, Epilepsy And Skeletal Abnormalities

Pelger Huet Anomaly

Pelger-Huet Nuclear Anomaly

Dyggve-Melchior-Clausen Disease

Dyggve-Melchior-Clausen Syndrome

DMC

Dmc Disease

Pseudo-Morquio Disease Type I

Dmc Syndrome

Larsen Syndrome

LRS

Larsen Syndrome, Dominant Type

Dominant Larsen Syndrome

Autosomal Dominant Larsen Syndrome

Larsens Syndrome

Spondyloepiphyseal Dysplasia Congenita

SEDC

Sed Congenita

Spondyloepiphyseal Dysplasia, Congenital Type

Late Spondyloepiphyseal Dysplasia

Sed, Congenital Type

Congenital Spondyloepiphyseal Dysplasia

Spranger-Wiedemann Disease

Spondyloepiphyseal Dysplasia Congenital Type

Dysplasia, Spondyloepiphyseal, Congenita

Spondyloepiphyseal Dysplasia, Congenita

Spondyloepiphyseal Dysplasia Tarda, X-Linked

Autoimmune Lymphoproliferative Syndrome

ALPS

Canale-Smith Syndrome

Autoimmune Lymphoproliferative Syndrome, Type Ia

Autoimmune Lymphoproliferative Syndrome, Type Ib

Autoimmune Lymphoproliferative Syndrome Type 1, Autosomal Dominant

Css

Autoimmune Lymphoproliferative Syndrome, Type 1b

Autoimmune Lymphoproliferative Syndrome, Type 1a

Autoimmune Lymphoproliferative Syndrome, Type I, Autosomal Dominant

Fas Deficiency

Autoimmune Lymphoproliferative Syndrome 1a

ALPS1A

Autoimmune Lymphoproliferative Syndrome Type Ia

Autoimmune Lymphoproliferative Syndrome 1b

ALPS1B

Autoimmune Lymphoproliferative Syndrome Type Ib

Osteochondrodysplasia

Skeletal Dysplasia

Chondrodystrophy

Congenital Anomaly Of Cartilage

Osteochondrodysplasias

Cartilage Development Disorder

Osteochondrodysplasia Syndrome

Dysplasia, Skeletal

Mucopolysaccharidosis Iv

Scoliosis
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
Macaca mulatta TRIP11 VGNC VGNC:78647
Felis catus TRIP11 VGNC VGNC:66559
Rattus norvegicus TRIP11 RGD RGD:1586166
Bos taurus TRIP11 VGNC VGNC:106999
Canis familiaris TRIP11 VGNC VGNC:51692
Mus musculus TRIP11 MGD MGI:1924393