TRIP11 - thyroid hormone receptor interactor 11 Gene

Also Known as ODCD; ACG1A; CEV14; ODCD1; GMAP210; TRIP-11; TRIP230; GMAP-210

生物種: Homo sapiens

遺伝子タイプ: protein coding
遺伝子ID: 9321

About 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.

Summary

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 Products (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
Molecular Function GO Annotation Evidence 参考文献 由来
enables protein binding IPI
IPI: Inferred from physical interaction
17438371 GOA
Biological Process GO Annotation Evidence 参考文献 由来
involved in Golgi ribbon formation IMP
IMP: Inferred from mutant phenotype
25473115 GOA
involved in cartilage development IMP
IMP: Inferred from mutant phenotype
30728324 GOA
involved in vesicle tethering to Golgi IMP
IMP: Inferred from mutant phenotype
25473115 GOA
Cellular Component GO Annotation Evidence 参考文献 由来
located in endoplasmic reticulum-Golgi intermediate compartment IDA
IDA: Inferred from direct assay
25473115 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
Protein Preferred Names Protein Names

thyroid receptor-interacting protein 11

  • Golgi-microtubule-associated protein of 210 kDa

TRIP11 Protein-protein interaction Information

Type
タンパク質名 Protein ID Interactor Interactor Species Interactor ID Detection Method 参考文献
Intra
TRIP11 Q15643 HNRNPCL2 Homo sapiens B2RXH8 30021884
Cross: Cross-species interaction Intra: Intraspecies interaction

関連疾患

Diseases Alias
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
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

Orthologs Information

生物種 Symbol 由来 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
Others TRIP11 NCBI