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 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr14:92,434,243-92,506,403)mRNA (may differ from genome)Protein (1979 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHPRDLynxMGI
neXtProtOMIMPubMedReactomeStanford SOURCETreefam
UniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  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:
  1. 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. [PubMed 18391950]
  2. height
    Gudbjartsson ,et al. 2008, Many sequence variants affecting diversity of adult human height, Nature genetics 2008 40- 5 : 609-15. [PubMed 18391951]
  3. 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. [PubMed 18391950]
           more ... click here to view the complete list

-  MalaCards Disease Associations
  MalaCards Gene Search: TRIP11
Diseases sorted by gene-association score: achondrogenesis, type ia* (1369), achondrogenesis (20)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 6.33 RPKM in Cells - Transformed fibroblasts
Total median expression: 200.68 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -143.74374-0.384 Picture PostScript Text
3' UTR -443.281774-0.250 Picture PostScript Text

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.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR000237 - GRIP

ModBase Predicted Comparative 3D Structure on Q15643
FrontTopSide
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.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologGenome BrowserGenome BrowserNo orthologNo ortholog
Gene Details  Gene Details  
Gene Sorter  Gene Sorter  
  EnsemblFlyBase  
  Protein SequenceProtein Sequence  
  AlignmentAlignment  

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003713 transcription coactivator activity
GO:0005515 protein binding

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

Cellular Component:
GO:0000139 Golgi membrane
GO:0002079 inner acrosomal membrane
GO:0002080 acrosomal membrane
GO:0002081 outer acrosomal membrane
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005794 Golgi apparatus
GO:0005801 cis-Golgi network
GO:0005856 cytoskeleton
GO:0005929 cilium
GO:0016020 membrane
GO:0016607 nuclear speck
GO:0030133 transport vesicle


-  Descriptions from all associated GenBank mRNAs
  BX641024 - Homo sapiens mRNA; cDNA DKFZp686C06243 (from clone DKFZp686C06243).
L40380 - Homo sapiens thyroid receptor interactor (TRIP11) mRNA, 3' end of cds.
AF011368 - Homo sapiens CEV14 mRNA, partial cds.
Y12490 - Homo sapiens mRNA for Golgi-associated microtubule-binding protein (GMAP-210).
AF007217 - Homo sapiens Trip230 mRNA, complete cds.
BC146845 - Homo sapiens thyroid hormone receptor interactor 11, mRNA (cDNA clone MGC:181948 IMAGE:9056773), complete cds.
AK307489 - Homo sapiens cDNA, FLJ97437.
BC002656 - Homo sapiens thyroid hormone receptor interactor 11, mRNA (cDNA clone IMAGE:3606164).
BC069008 - Homo sapiens cDNA clone IMAGE:4878071.
KJ901963 - Synthetic construct Homo sapiens clone ccsbBroadEn_11357 TRIP11 gene, encodes complete protein.
BC142956 - Homo sapiens cDNA clone IMAGE:8860355, with apparent retained intron.
JD228572 - Sequence 209596 from Patent EP1572962.
JD210517 - Sequence 191541 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q15643 (Reactome details) participates in the following event(s):

R-HSA-5617828 TRIP11:IFT20 dissociates
R-HSA-8847875 ARF1:GTP binds Golgin TRIP11
R-HSA-5620924 Intraflagellar transport
R-HSA-5617833 Cilium Assembly
R-HSA-6811438 Intra-Golgi traffic
R-HSA-1852241 Organelle biogenesis and maintenance
R-HSA-6811442 Intra-Golgi and retrograde Golgi-to-ER traffic
R-HSA-199991 Membrane Trafficking
R-HSA-5653656 Vesicle-mediated transport

-  Other Names for This Gene
  Alternate Gene Symbols: CEV14, NM_004239, NP_004230, O14689, O15154, O95949, Q15643, TRIPB_HUMAN
UCSC ID: uc001xzy.3
RefSeq Accession: NM_004239
Protein: Q15643 (aka TRIPB_HUMAN)
CCDS: CCDS9899.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_004239.3
exon count: 21CDS single in 3' UTR: no RNA size: 8106
ORF size: 5940CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 9146.00frame shift in genome: no % Coverage: 99.78
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.