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    TRIP11 thyroid hormone receptor interactor 11 [ Homo sapiens (human) ]

    Gene ID: 9321, updated on 28-Oct-2024

    Summary

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    Official Symbol
    TRIP11provided by HGNC
    Official Full Name
    thyroid hormone receptor interactor 11provided by HGNC
    Primary source
    HGNC:HGNC:12305
    See related
    Ensembl:ENSG00000100815 MIM:604505; AllianceGenome:HGNC:12305
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ODCD; ACG1A; CEV14; ODCD1; GMAP210; TRIP-11; TRIP230; GMAP-210
    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]
    Expression
    Ubiquitous expression in thyroid (RPKM 9.3), kidney (RPKM 6.5) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TRIP11 in Genome Data Viewer
    Location:
    14q32.12
    Exon count:
    22
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (91965991..92040059, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (86195456..86269539, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (92432335..92506403, complement)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene tandem C2 domains, nuclear Neighboring gene uncharacterized LOC124903362 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8925 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:92363455-92363968 Neighboring gene fibulin 5 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:92392675-92393174 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:92506403-92507190 Neighboring gene uncharacterized LOC124903363 Neighboring gene MPRA-validated peak2235 silencer Neighboring gene MPRA-validated peak2236 silencer Neighboring gene prothymosin alpha pseudogene 7 Neighboring gene ataxin 3 repeat instability region Neighboring gene ataxin 3 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6031 Neighboring gene NANOG hESC enhancer GRCh37_chr14:92566141-92566677 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:92572215-92573149 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr14:92574354-92575164 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:92586481-92587470 Neighboring gene NADH:ubiquinone oxidoreductase subunit B1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Biallelic deep intronic variant c.5457+81T>A in TRIP11 causes loss of function and results in achondrogenesis 1A. Upadhyai P, et al. Hum Mutat, 2021 Aug. PMID 34057271
    2. Description of four patients with TRIP11 variants expand the clinical spectrum of odontochondroplasia (ODCD) and demonstrate the existence of common variants. Del Pino M, et al. Eur J Med Genet, 2021 May. PMID 33746040
    3. Asymmetric tethering of flat and curved lipid membranes by a golgin. Drin G, et al. Science, 2008 May 2. PMID 18451304
    4. Pathogenic variants in the TRIP11 gene cause a skeletal dysplasia spectrum from odontochondrodysplasia to achondrogenesis 1A. Medina CTN, et al. Am J Med Genet A, 2020 Apr. PMID 31903676
    5. Golgi localisation of GMAP210 requires two distinct cis-membrane binding mechanisms. Cardenas J, et al. BMC Biol, 2009 Aug 28. PMID 19715559, Free PMC Article

    See all (95) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Biallelic deep intronic variant c.5457+81T>A in TRIP11 causes loss of function and results in achondrogenesis 1A.
      Title: Biallelic deep intronic variant c.5457+81T>A in TRIP11 causes loss of function and results in achondrogenesis 1A.
    2. Description of four patients with TRIP11 variants expand the clinical spectrum of odontochondroplasia (ODCD) and demonstrate the existence of common variants.
      Title: Description of four patients with TRIP11 variants expand the clinical spectrum of odontochondroplasia (ODCD) and demonstrate the existence of common variants.
    3. Pathogenic variants in the TRIP11 gene cause a skeletal dysplasia spectrum from odontochondrodysplasia to achondrogenesis 1A.
      Title: Pathogenic variants in the TRIP11 gene cause a skeletal dysplasia spectrum from odontochondrodysplasia to achondrogenesis 1A.
    4. A common pathogenic mechanism in GMAP-210- and LBR-related diseases attributable to defective secretory trafficking at the Golgi apparatus.
      Title: A common pathomechanism in GMAP-210- and LBR-related diseases.
    5. Decreased expressions of TRIP11, THRA, and THRB correlated with poor survival of renal cell cancer patients. Expressions of TRIP11 and HIF-1beta correlated with tumor grades.
      Title: The significance of TRIP11 and T3 signalling pathway in renal cancer progression and survival of patients.
    6. The authors conclude that the Golgi uses GMAP-210 as a filter to select transport vesicles according to their size and bulk lipid composition.
      Title: A filter at the entrance of the Golgi that selects vesicles according to size and bulk lipid composition.
    7. role for GMAP-210 in several trafficking steps at the ER-Golgi interface
      Title: The golgin GMAP-210 is required for efficient membrane trafficking in the early secretory pathway.
    8. GMAP-210 has a role for membrane tethering in maintaining Golgi structure and a role for Rab2 binding in linking tethering with downstream docking and fusion events at the Golgi apparatus.
      Title: Coupling of vesicle tethering and Rab binding is required for in vivo functionality of the golgin GMAP-210.
    9. Rb is present in HIF1alpha-ARNT/HIF1beta transcriptional complexes associated with TRIP230 as determined by co-immuno-precipitation, GST-pull-down and ChIP assays
      Title: A TRIP230-retinoblastoma protein complex regulates hypoxia-inducible factor-1α-mediated transcription and cancer cell invasion.
    10. identification of a mutation affecting GMAP-210 in mice, and then in humans, as the cause of a lethal skeletal dysplasia
      Title: Lethal skeletal dysplasia in mice and humans lacking the golgin GMAP-210.
    Submit: New GeneRIF Correction See all GeneRIFs (15)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Achondrogenesis, type IA
    MedGen: C0265273 OMIM: 200600 GeneReviews: Not available
    		not available
    Odontochondrodysplasia 1
    MedGen: C5542277 OMIM: 184260 GeneReviews: Not available
    		not available

    EBI GWAS Catalog

    Description
    Hundreds of variants clustered in genomic loci and biological pathways affect human height.
    EBI GWAS Catalog
    Identification of ten loci associated with height highlights new biological pathways in human growth.
    EBI GWAS Catalog
    Many sequence variants affecting diversity of adult human height.
    EBI GWAS Catalog
    Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables small GTPase binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables transcription coactivator activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in Golgi organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in Golgi ribbon formation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in cartilage development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in chondrocyte differentiation involved in endochondral bone morphogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in endoplasmic reticulum to Golgi vesicle-mediated transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in inner ear receptor cell stereocilium organization IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of DNA-templated transcription IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in protein glycosylation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in protein transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in transcription by RNA polymerase II TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in ventricular septum development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in vesicle tethering to Golgi IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in Golgi apparatus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    		  
    located_in Golgi membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in cis-Golgi network IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in endoplasmic reticulum-Golgi intermediate compartment IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in endoplasmic reticulum-Golgi intermediate compartment membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in inner acrosomal membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in outer acrosomal membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in transport vesicle TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    thyroid receptor-interacting protein 11
    Names
    Golgi-microtubule-associated protein of 210 kDa
    TR-interacting protein 11
    clonal evolution-related gene on chromosome 14 protein
    golgi-associated microtubule-binding protein 210

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_016970.1 RefSeqGene

      Range
      5001..79069
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001321851.1 → NP_001308780.1  thyroid receptor-interacting protein 11 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AL049872
      UniProtKB/TrEMBL
      H0YJ97
      Conserved Domains (3) summary
      COG1196
      Location:305 → 1074
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      TIGR02168
      Location:907 → 1751
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      pfam15898
      Location:602 → 681
      PRKG1_interact; cGMP-dependent protein kinase interacting domain

    2. NM_004239.4 → NP_004230.2  thyroid receptor-interacting protein 11 isoform 1

      See identical proteins and their annotated locations for NP_004230.2

      Status: REVIEWED

      Source sequence(s)
      AL049872
      Consensus CDS
      CCDS9899.1
      UniProtKB/Swiss-Prot
      B2RUT2, O14689, O15154, O95949, Q15643, Q6MZL5
      UniProtKB/TrEMBL
      H0YJ97
      Related
      ENSP00000267622.4, ENST00000267622.8
      Conserved Domains (4) summary
      COG1196
      Location:306 → 1075
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      TIGR02168
      Location:908 → 1752
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      pfam10375
      Location:1774 → 1819
      GRAB; GRIP-related Arf-binding domain
      cl00081
      Location:64 → 123
      bHLH_SF; basic Helix Loop Helix (bHLH) domain superfamily

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000014.9 Reference GRCh38.p14 Primary Assembly

      Range
      91965991..92040059 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047431935.1 → XP_047287891.1  thyroid receptor-interacting protein 11 isoform X1

      Related
      ENSP00000451032.1, ENST00000554357.5

    RNA

    1. XR_943560.3 RNA Sequence

    2. XR_001750598.3 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      86195456..86269539 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054377022.1 → XP_054232997.1  thyroid receptor-interacting protein 11 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q15643.3 GenPept UniProtKB/Swiss-Prot:Q15643

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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