Human Gene TRIP11 (uc001xzy.3) Description and Page Index
Description: Homo sapiens thyroid hormone receptor interactor 11 (TRIP11), mRNA. RefSeq Summary (NM_004239): 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]. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1803617.136121.1, SRR1660803.248776.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000267622.8/ ENSP00000267622.4 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Transcript (Including UTRs) Position: hg19 chr14:92,434,243-92,506,403 Size: 72,161 Total Exon Count: 21 Strand: - Coding Region Position: hg19 chr14:92,436,017-92,506,029 Size: 70,013 Coding Exon Count: 21
ID:TRIPB_HUMAN DESCRIPTION: RecName: Full=Thyroid receptor-interacting protein 11; Short=TR-interacting protein 11; Short=TRIP-11; AltName: Full=Clonal evolution-related gene on chromosome 14 protein; AltName: Full=Golgi-associated microtubule-binding protein 210; Short=GMAP-210; AltName: Full=Trip230; FUNCTION: Binds the ligand binding domain of the thyroid receptor (THRB) in the presence of triiodothyronine and enhances THRB- modulated transcription. Golgi auto-antigen; probably involved in maintaining cis-Golgi structure. SUBUNIT: Binds RB1. SUBCELLULAR LOCATION: Golgi apparatus, cis-Golgi network membrane; Peripheral membrane protein. Cytoplasm, cytoskeleton. Note=Associates with the ends of centrosome-nucleated microtubules. 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. DOMAIN: Extended rod-like protein with coiled-coil domains. DISEASE: 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. DISEASE: Defects in TRIP11 are the cause of achondrogenesis type 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. SIMILARITY: Contains 1 GRIP domain. SEQUENCE CAUTION: Sequence=AAB84386.1; Type=Frameshift; Positions=1932, 1955; WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/CEV14.html";
Genetic Association Studies of Complex Diseases and Disorders
Genetic Association Database (archive): TRIP11 CDC HuGE Published Literature: TRIP11 Positive Disease Associations: Body Height
, height Related Studies:
Body Height Guillaume Lettre et al. Nature genetics 2008, Identification of ten loci associated with height highlights new biological pathways in human growth., Nature genetics.
height Gudbjartsson ,et al. 2008, Many sequence variants affecting diversity of adult human height, Nature genetics 2008 40- 5 : 609-15.
height Lettre ,et al. 2008, Identification of ten loci associated with height highlights new biological pathways in human growth, Nature genetics 2008 40- 5 : 584-91.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q15643
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.
Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Biological Process: GO:0003281 ventricular septum development GO:0003413 chondrocyte differentiation involved in endochondral bone morphogenesis GO:0006366 transcription from RNA polymerase II promoter GO:0006486 protein glycosylation GO:0007030 Golgi organization GO:0035735 intraciliary transport involved in cilium assembly GO:0060122 inner ear receptor stereocilium organization GO:0060348 bone development