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 str... See more...

Aliases for TRIP11 Gene

Aliases for TRIP11 Gene

  • Thyroid Hormone Receptor Interactor 11 2 3 5
  • Clonal Evolution-Related Gene On Chromosome 14 Protein 3 4
  • Golgi-Associated Microtubule-Binding Protein 210 3 4
  • Thyroid Receptor-Interacting Protein 11 3 4
  • TR-Interacting Protein 11 3 4
  • GMAP-210 3 4
  • TRIP-11 3 4
  • CEV14 3 4
  • Golgi-Microtubule-Associated Protein Of 210 KDa 3
  • Golgi-Microtubule-Associated-Protein Of 210 KDa 2
  • GMAP210 3
  • TRIP230 3
  • Trip230 4
  • ACG1A 3
  • ODCD 3

External Ids for TRIP11 Gene

Previous GeneCards Identifiers for TRIP11 Gene

  • GC14M089942
  • GC14M086251
  • GC14M090423
  • GC14M090425
  • GC14M091505
  • GC14M092435
  • GC14M072615

Summaries for TRIP11 Gene

Entrez Gene Summary for TRIP11 Gene

  • 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]

GeneCards Summary for TRIP11 Gene

TRIP11 (Thyroid Hormone Receptor Interactor 11) is a Protein Coding gene. Diseases associated with TRIP11 include Odontochondrodysplasia and Achondrogenesis, Type Ia. Among its related pathways are Intra-Golgi traffic and Vesicle-mediated transport. Gene Ontology (GO) annotations related to this gene include transcription coactivator activity and structural constituent of ribosome.

UniProtKB/Swiss-Prot Summary for TRIP11 Gene

  • Is a membrane tether required for vesicle tethering to Golgi. Has an essential role in the maintenance of Golgi structure and function (PubMed:25473115, PubMed:30728324). It is required for efficient anterograde and retrograde trafficking in the early secretory pathway, functioning at both the ER-to-Golgi intermediate compartment (ERGIC) and Golgi complex (PubMed:25717001). Binds the ligand binding domain of the thyroid receptor (THRB) in the presence of triiodothyronine and enhances THRB-modulated transcription.

Gene Wiki entry for TRIP11 Gene

Additional gene information for TRIP11 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TRIP11 Gene

Genomics for TRIP11 Gene

GeneHancer (GH) Regulatory Elements for TRIP11 Gene

Promoters and enhancers for TRIP11 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TRIP11 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TRIP11

Top Transcription factor binding sites by QIAGEN in the TRIP11 gene promoter:
  • C/EBPbeta
  • CP2
  • FOXD1
  • HOXA3
  • Ik-2
  • Pax-2
  • Pax-2a
  • Pax-5
  • STAT3

Genomic Locations for TRIP11 Gene

Genomic Locations for TRIP11 Gene
chr14:91,965,991-92,040,896
(GRCh38/hg38)
Size:
74,906 bases
Orientation:
Minus strand
chr14:92,432,335-92,507,240
(GRCh37/hg19)
Size:
74,906 bases
Orientation:
Minus strand

Genomic View for TRIP11 Gene

Genes around TRIP11 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TRIP11 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TRIP11 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TRIP11 Gene

Proteins for TRIP11 Gene

  • Protein details for TRIP11 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q15643-TRIPB_HUMAN
    Recommended name:
    Thyroid receptor-interacting protein 11
    Protein Accession:
    Q15643
    Secondary Accessions:
    • B2RUT2
    • O14689
    • O15154
    • O95949
    • Q6MZL5

    Protein attributes for TRIP11 Gene

    Size:
    1979 amino acids
    Molecular mass:
    227586 Da
    Quaternary structure:
    • Interacts with the active form of RAB2A (PubMed:25473115). Interacts with IFT20 (PubMed:19112494). Binds RB1.
    SequenceCaution:
    • Sequence=AAB84386.1; Type=Frameshift; Evidence={ECO:0000305};

    Alternative splice isoforms for TRIP11 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TRIP11 Gene

Post-translational modifications for TRIP11 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for TRIP11 Gene

No data available for DME Specific Peptides for TRIP11 Gene

Domains & Families for TRIP11 Gene

Gene Families for TRIP11 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for TRIP11 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for TRIP11 Gene

GenScript: Design optimal peptide antigens:
  • Thyroid hormone receptor interactor 11 (B2RUT2_HUMAN)
  • Trip230 (TRIPB_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q15643

UniProtKB/Swiss-Prot:

TRIPB_HUMAN :
  • Extended rod-like protein with coiled-coil domains.
Domain:
  • Extended rod-like protein with coiled-coil domains.
  • The C-terminus is required for recruitment to the Golgi apparatus and endoplasmic reticulum-Golgi intermediate compartment.
genes like me logo Genes that share domains with TRIP11: view

Function for TRIP11 Gene

Molecular function for TRIP11 Gene

UniProtKB/Swiss-Prot Function:
Is a membrane tether required for vesicle tethering to Golgi. Has an essential role in the maintenance of Golgi structure and function (PubMed:25473115, PubMed:30728324). It is required for efficient anterograde and retrograde trafficking in the early secretory pathway, functioning at both the ER-to-Golgi intermediate compartment (ERGIC) and Golgi complex (PubMed:25717001). Binds the ligand binding domain of the thyroid receptor (THRB) in the presence of triiodothyronine and enhances THRB-modulated transcription.
GENATLAS Biochemistry:
thyroid receptor interacting protein 11,expressed in a wide range of tissues,negatively regulated by the retinoblastoma protein

Phenotypes From GWAS Catalog for TRIP11 Gene

Gene Ontology (GO) - Molecular Function for TRIP11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003713 transcription coactivator activity TAS 9256431
GO:0005515 protein binding IPI 17438371
genes like me logo Genes that share ontologies with TRIP11: view
genes like me logo Genes that share phenotypes with TRIP11: view

Human Phenotype Ontology for TRIP11 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for TRIP11 Gene

MGI Knock Outs for TRIP11:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TRIP11

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for TRIP11 Gene

Localization for TRIP11 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TRIP11 Gene

Golgi apparatus, cis-Golgi network membrane; Peripheral membrane protein. Cytoplasm, cytoskeleton. Endoplasmic reticulum-Golgi intermediate compartment membrane. Note=Associates with the ends of centrosome-nucleated microtubules.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TRIP11 gene
Compartment Confidence
nucleus 5
golgi apparatus 5
cytoskeleton 4
endoplasmic reticulum 2
endosome 2
cytosol 2
plasma membrane 1
extracellular 1
mitochondrion 1
peroxisome 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (4)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for TRIP11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
GO:0002079 inner acrosomal membrane IEA --
GO:0002080 acrosomal membrane IEA --
GO:0002081 outer acrosomal membrane IEA --
GO:0005623 cell IEA --
genes like me logo Genes that share ontologies with TRIP11: view

Pathways & Interactions for TRIP11 Gene

genes like me logo Genes that share pathways with TRIP11: view

SIGNOR curated interactions for TRIP11 Gene

Activates:
Is inactivated by:

Gene Ontology (GO) - Biological Process for TRIP11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003281 ventricular septum development IEA --
GO:0003413 chondrocyte differentiation involved in endochondral bone morphogenesis IEA --
GO:0006366 transcription by RNA polymerase II TAS 9256431
GO:0006486 protein glycosylation IEA --
GO:0007030 Golgi organization IEA --
genes like me logo Genes that share ontologies with TRIP11: view

Drugs & Compounds for TRIP11 Gene

No Compound Related Data Available

Transcripts for TRIP11 Gene

mRNA/cDNA for TRIP11 Gene

2 REFSEQ mRNAs :
16 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TRIP11

Alternative Splicing Database (ASD) splice patterns (SP) for TRIP11 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17a · 17b ^ 18 ^ 19 ^ 20 ^ 21a · 21b ^ 22a ·
SP1: -
SP2: -
SP3: - - - - -
SP4:

ExUns: 22b · 22c
SP1:
SP2:
SP3:
SP4:

Relevant External Links for TRIP11 Gene

GeneLoc Exon Structure for
TRIP11

Expression for TRIP11 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for TRIP11 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for TRIP11 Gene

This gene is overexpressed in Platelet (45.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for TRIP11 Gene



Protein tissue co-expression partners for TRIP11 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TRIP11

SOURCE GeneReport for Unigene cluster for TRIP11 Gene:

Hs.632339

mRNA Expression by UniProt/SwissProt for TRIP11 Gene:

Q15643-TRIPB_HUMAN
Tissue specificity: Highly expressed in pancreas, muscle, heart, testis, peripheral blood leukocytes, and in several leukemia cell lines. Detected at intermediate levels in placenta and kidney, and at low levels in brain and lung. Isoform 1 and isoform 2 are expressed in articular chondrocytes (PubMed:30728324).

Evidence on tissue expression from TISSUES for TRIP11 Gene

  • Nervous system(4.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for TRIP11 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • chin
  • ear
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • skull
Thorax:
  • chest wall
  • clavicle
  • heart
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • abdominal wall
  • intestine
  • kidney
  • liver
Pelvis:
  • pelvis
  • placenta
  • uterus
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with TRIP11: view

No data available for mRNA differential expression in normal tissues for TRIP11 Gene

Orthologs for TRIP11 Gene

This gene was present in the common ancestor of animals.

Orthologs for TRIP11 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TRIP11 31 30
  • 99.66 (n)
OneToOne
dog
(Canis familiaris)
Mammalia TRIP11 31 30
  • 88.16 (n)
OneToOne
cow
(Bos Taurus)
Mammalia TRIP11 31 30
  • 88.06 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Trip11 17 31 30
  • 82.97 (n)
rat
(Rattus norvegicus)
Mammalia Trip11 30
  • 82.4 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia TRIP11 31
  • 74 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TRIP11 31
  • 73 (a)
OneToOne
chicken
(Gallus gallus)
Aves TRIP11 31 30
  • 72.18 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TRIP11 31
  • 63 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii trip11 31 30
  • 58.42 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Gmap 31
  • 21 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea sql-1 31
  • 21 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 35 (a)
OneToOne
Species where no ortholog for TRIP11 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for TRIP11 Gene

ENSEMBL:
Gene Tree for TRIP11 (if available)
TreeFam:
Gene Tree for TRIP11 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for TRIP11: view image

Paralogs for TRIP11 Gene

(1) SIMAP similar genes for TRIP11 Gene using alignment to 5 proteins:

  • TRIPB_HUMAN
  • B2RUT2_HUMAN
  • G3V4R7_HUMAN
  • H0YJ97_HUMAN
  • H0YJI2_HUMAN
genes like me logo Genes that share paralogs with TRIP11: view

No data available for Paralogs for TRIP11 Gene

Variants for TRIP11 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TRIP11 Gene

SNP ID Clinical significance and condition Chr 14 pos Variation AA Info Type
567703 Uncertain Significance: Achondrogenesis, type IA 92,011,035(-) A/G MISSENSE_VARIANT
571660 Uncertain Significance: Achondrogenesis, type IA 92,011,029(-) A/C MISSENSE_VARIANT
572495 Pathogenic: Achondrogenesis, type IA 92,011,020(-) A/T NONSENSE
579866 Uncertain Significance: Achondrogenesis, type IA 92,005,838(-) G/T MISSENSE_VARIANT
580662 Uncertain Significance: Achondrogenesis, type IA 91,993,820(-) T/A MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for TRIP11 Gene

Structural Variations from Database of Genomic Variants (DGV) for TRIP11 Gene

Variant ID Type Subtype PubMed ID
nsv1045760 CNV gain 25217958
nsv1134398 CNV deletion 24896259
nsv456395 CNV loss 19166990
nsv523854 CNV gain 19592680
nsv527458 CNV loss 19592680
nsv565519 CNV loss 21841781
nsv977498 CNV duplication 23825009

Variation tolerance for TRIP11 Gene

Residual Variation Intolerance Score: 91.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 13.54; 95.57% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TRIP11 Gene

Human Gene Mutation Database (HGMD)
TRIP11
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TRIP11

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TRIP11 Gene

Disorders for TRIP11 Gene

MalaCards: The human disease database

(11) MalaCards diseases for TRIP11 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
odontochondrodysplasia
  • odcd
achondrogenesis, type ia
  • acg1a
achondrogenesis
  • achondrogenesis syndrome
schneckenbecken dysplasia
  • shnknd
boomerang dysplasia
  • boomd
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

TRIPB_HUMAN
  • Note=A chromosomal aberration involving TRIP11 may be a cause of acute myelogenous leukemia. Translocation t(5;14)(q33;q32) with PDGFRB. The fusion protein may be involved in clonal evolution of leukemia and eosinophilia. {ECO:0000269 PubMed:9373237}.
  • Achondrogenesis 1A (ACG1A) [MIM:200600]: A form of achondrogenesis type 1, a lethal form of chondrodysplasia characterized by deficient ossification in the lumbar vertebrae and absent ossification in the sacral, pubic and ischial bones and clinically by stillbirth or early death. In addition to severe micromelia, there is a disproportionately large cranium due to marked edema of soft tissues. {ECO:0000269 PubMed:20089971, ECO:0000269 PubMed:30728324}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Odontochondrodysplasia (ODCD) [MIM:184260]: An autosomal recessive disorder of skeletal and dental development characterized by mesomelic shortening of tubular bones, ligamentous laxity, scoliosis, and dentinogenesis imperfecta involving both primary and secondary dentition. Radiologic features include trident pelvis, posteriorly flattened vertebrae, and brachydactyly with cone-shaped epiphyses. {ECO:0000269 PubMed:30728324}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for TRIP11

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with TRIP11: view

No data available for Genatlas for TRIP11 Gene

Publications for TRIP11 Gene

  1. Fusion of the platelet-derived growth factor receptor beta to a novel gene CEV14 in acute myelogenous leukemia after clonal evolution. (PMID: 9373237) Abe A … Saito H (Blood 1997) 2 3 4 23 54
  2. Lethal skeletal dysplasia in mice and humans lacking the golgin GMAP-210. (PMID: 20089971) Smits P … Beier DR (The New England journal of medicine 2010) 3 4 23 54
  3. GMAP-210, A cis-Golgi network-associated protein, is a minus end microtubule-binding protein. (PMID: 10189370) Infante C … Rios RM (The Journal of cell biology 1999) 3 4 23 54
  4. Two classes of proteins dependent on either the presence or absence of thyroid hormone for interaction with the thyroid hormone receptor. (PMID: 7776974) Lee JW … Moore DD (Molecular endocrinology (Baltimore, Md.) 1995) 2 3 4 54
  5. Hypomorphic mutations of TRIP11 cause odontochondrodysplasia. (PMID: 30728324) Wehrle A … Lausch E (JCI insight 2019) 3 4 54

Products for TRIP11 Gene

Sources for TRIP11 Gene