Format

Send to:

Choose Destination

Links from OMIM

    • Showing Current items.

    TRPS1 transcriptional repressor GATA binding 1 [ Homo sapiens (human) ]

    Gene ID: 7227, updated on 8-May-2017
    Official Symbol
    TRPS1provided by HGNC
    Official Full Name
    transcriptional repressor GATA binding 1provided by HGNC
    Primary source
    HGNC:HGNC:12340
    See related
    Ensembl:ENSG00000104447 MIM:604386; Vega:OTTHUMG00000142829
    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
    GC79; LGCR
    Summary
    This gene encodes a transcription factor that represses GATA-regulated genes and binds to a dynein light chain protein. Binding of the encoded protein to the dynein light chain protein affects binding to GATA consensus sequences and suppresses its transcriptional activity. Defects in this gene are a cause of tricho-rhino-phalangeal syndrome (TRPS) types I-III. [provided by RefSeq, Jul 2008]
    Orthologs
    Location:
    8q23.3
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 8 NC_000008.11 (115408496..115669633, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (116420724..116713299, complement)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene cysteinyl-tRNA synthetase pseudogene 2 Neighboring gene uncharacterized LOC107986901 Neighboring gene uncharacterized LOC107986967 Neighboring gene uncharacterized LOC107986968

    • Project title: 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Trichorhinophalangeal dysplasia type I
    MedGen: C0432233 OMIM: 190350 GeneReviews: Not available
    Compare labs
    Trichorhinophalangeal syndrome type 3
    MedGen: C1860823 OMIM: 190351 GeneReviews: Not available
    Compare labs

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated (2012-01-12)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated (2012-01-12)

    ClinGen Genome Curation PagePubMed

    NHGRI GWAS Catalog

    Description
    A genome-wide association study (GWAS) for bronchopulmonary dysplasia.
    NHGRI GWA Catalog
    A mega-analysis of genome-wide association studies for major depressive disorder.
    NHGRI GWA Catalog
    Biological, clinical and population relevance of 95 loci for blood lipids.
    NHGRI GWA Catalog
    Discovery and refinement of loci associated with lipid levels.
    NHGRI GWA Catalog
    Genome-wide association analysis of eating disorder-related symptoms, behaviors, and personality traits.
    NHGRI GWA Catalog
    Genome-wide association study identifies new susceptibility loci for posttraumatic stress disorder.
    NHGRI GWA Catalog
    Genome-wide association study of periodontal pathogen colonization.
    NHGRI GWA Catalog

    Protein interactions

    Protein Gene Interaction Pubs
    retropepsin gag-pol HIV-1 PR is identified to have a physical interaction with trichorhinophalangeal syndrome I (TRPS1) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses PubMed

    Go to the HIV-1, Human Interaction Database

    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • MGC134928

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    RNA polymerase II regulatory region sequence-specific DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    RNA polymerase II transcription factor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    chromatin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein domain specific binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    transcription factor activity, sequence-specific DNA binding TAS
    Traceable Author Statement
    more info
    PubMed 
    transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    zinc ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    NLS-bearing protein import into nucleus TAS
    Traceable Author Statement
    more info
    PubMed 
    cell differentiation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    negative regulation of transcription from RNA polymerase II promoter IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of transcription from RNA polymerase II promoter IEA
    Inferred from Electronic Annotation
    more info
     
    protein heterooligomerization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of chondrocyte differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    skeletal system development TAS
    Traceable Author Statement
    more info
    PubMed 
    transcription from RNA polymerase II promoter TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    nuclear chromatin IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein complex IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    transcription factor complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Preferred Names
    zinc finger transcription factor Trps1
    Names
    tricho-rhino-phalangeal syndrome type I protein
    trichorhinophalangeal syndrome I
    zinc finger protein GC79

    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_012383.3 RefSeqGene

      Range
      4974..265506
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001282902.2NP_001269831.1  zinc finger transcription factor Trps1 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate 5' structure which results in the use of an alternate start codon, compared to variant 1. The encoded isoform (2) is shorter and has a distinct N-terminus, compared to isoform 1.
      Source sequence(s)
      AF178030, AF183810, AK304046, DC339831, KC877306, KF454923
      Consensus CDS
      CCDS64957.1
      UniProtKB/Swiss-Prot
      Q9UHF7
      Related
      ENSP00000428680.1, OTTHUMP00000227887, ENST00000520276.5, OTTHUMT00000380905
      Conserved Domains (2) summary
      smart00401
      Location:895938
      ZnF_GATA; zinc finger binding to DNA consensus sequence [AT]GATA[AG]
      cd00202
      Location:899955
      ZnF_GATA; Zinc finger DNA binding domain; binds specifically to DNA consensus sequence [AT]GATA[AG] promoter elements; a subset of family members may also bind protein; zinc-finger consensus topology is C-X(2)-C-X(17)-C-X(2)-C
    2. NM_001282903.2NP_001269832.1  zinc finger transcription factor Trps1 isoform 3

      See identical proteins and their annotated locations for NP_001269832.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate splice in the coding region which results in the use of an alternate start codon, compared to variant 1. The encoded isoform (3) is shorter and has a distinct N-terminus, compared to isoform 1.
      Source sequence(s)
      AF178030, BC125020, KC877306, KF454923
      UniProtKB/Swiss-Prot
      Q9UHF7
      Conserved Domains (2) summary
      smart00401
      Location:897940
      ZnF_GATA; zinc finger binding to DNA consensus sequence [AT]GATA[AG]
      cd00202
      Location:901957
      ZnF_GATA; Zinc finger DNA binding domain; binds specifically to DNA consensus sequence [AT]GATA[AG] promoter elements; a subset of family members may also bind protein; zinc-finger consensus topology is C-X(2)-C-X(17)-C-X(2)-C
    3. NM_001330599.1NP_001317528.1  zinc finger transcription factor Trps1 isoform 4

      Status: REVIEWED

      Source sequence(s)
      AF178030, AF183810, AF264784, KC877306, KF454923
      Consensus CDS
      CCDS83316.1
      UniProtKB/Swiss-Prot
      Q9UHF7
    4. NM_014112.4NP_054831.2  zinc finger transcription factor Trps1 isoform 1

      See identical proteins and their annotated locations for NP_054831.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AF178030, AF183810, KC877306, KF454923
      Consensus CDS
      CCDS6318.2
      UniProtKB/Swiss-Prot
      Q9UHF7
      Related
      ENSP00000379065.3, OTTHUMP00000183498, ENST00000395715.7, OTTHUMT00000286435
      Conserved Domains (2) summary
      smart00401
      Location:904947
      ZnF_GATA; zinc finger binding to DNA consensus sequence [AT]GATA[AG]
      cd00202
      Location:908964
      ZnF_GATA; Zinc finger DNA binding domain; binds specifically to DNA consensus sequence [AT]GATA[AG] promoter elements; a subset of family members may also bind protein; zinc-finger consensus topology is C-X(2)-C-X(17)-C-X(2)-C

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p7 Primary Assembly

      Range
      115408496..115669633 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011517266.2XP_011515568.1  zinc finger transcription factor Trps1 isoform X2

      See identical proteins and their annotated locations for XP_011515568.1

      UniProtKB/Swiss-Prot
      Q9UHF7
      Conserved Domains (2) summary
      smart00401
      Location:904947
      ZnF_GATA; zinc finger binding to DNA consensus sequence [AT]GATA[AG]
      cd00202
      Location:908964
      ZnF_GATA; Zinc finger DNA binding domain; binds specifically to DNA consensus sequence [AT]GATA[AG] promoter elements; a subset of family members may also bind protein; zinc-finger consensus topology is C-X(2)-C-X(17)-C-X(2)-C
    2. XM_005251049.2XP_005251106.1  zinc finger transcription factor Trps1 isoform X4

      Related
      ENSP00000220888.5, OTTHUMP00000183499, ENST00000220888.9, OTTHUMT00000286436
      Conserved Domains (2) summary
      smart00401
      Location:891934
      ZnF_GATA; zinc finger binding to DNA consensus sequence [AT]GATA[AG]
      cd00202
      Location:895951
      ZnF_GATA; Zinc finger DNA binding domain; binds specifically to DNA consensus sequence [AT]GATA[AG] promoter elements; a subset of family members may also bind protein; zinc-finger consensus topology is C-X(2)-C-X(17)-C-X(2)-C
    3. XM_011517268.1XP_011515570.1  zinc finger transcription factor Trps1 isoform X4

      See identical proteins and their annotated locations for XP_011515570.1

      UniProtKB/Swiss-Prot
      Q9UHF7
      Conserved Domains (2) summary
      smart00401
      Location:891934
      ZnF_GATA; zinc finger binding to DNA consensus sequence [AT]GATA[AG]
      cd00202
      Location:895951
      ZnF_GATA; Zinc finger DNA binding domain; binds specifically to DNA consensus sequence [AT]GATA[AG] promoter elements; a subset of family members may also bind protein; zinc-finger consensus topology is C-X(2)-C-X(17)-C-X(2)-C
    4. XM_011517264.1XP_011515566.1  zinc finger transcription factor Trps1 isoform X2

      See identical proteins and their annotated locations for XP_011515566.1

      UniProtKB/Swiss-Prot
      Q9UHF7
      Conserved Domains (2) summary
      smart00401
      Location:904947
      ZnF_GATA; zinc finger binding to DNA consensus sequence [AT]GATA[AG]
      cd00202
      Location:908964
      ZnF_GATA; Zinc finger DNA binding domain; binds specifically to DNA consensus sequence [AT]GATA[AG] promoter elements; a subset of family members may also bind protein; zinc-finger consensus topology is C-X(2)-C-X(17)-C-X(2)-C
    5. XM_011517267.1XP_011515569.1  zinc finger transcription factor Trps1 isoform X3

      See identical proteins and their annotated locations for XP_011515569.1

      Conserved Domains (2) summary
      smart00401
      Location:897940
      ZnF_GATA; zinc finger binding to DNA consensus sequence [AT]GATA[AG]
      cd00202
      Location:901957
      ZnF_GATA; Zinc finger DNA binding domain; binds specifically to DNA consensus sequence [AT]GATA[AG] promoter elements; a subset of family members may also bind protein; zinc-finger consensus topology is C-X(2)-C-X(17)-C-X(2)-C
    6. XM_006716625.1XP_006716688.1  zinc finger transcription factor Trps1 isoform X2

      See identical proteins and their annotated locations for XP_006716688.1

      UniProtKB/Swiss-Prot
      Q9UHF7
      Conserved Domains (2) summary
      smart00401
      Location:904947
      ZnF_GATA; zinc finger binding to DNA consensus sequence [AT]GATA[AG]
      cd00202
      Location:908964
      ZnF_GATA; Zinc finger DNA binding domain; binds specifically to DNA consensus sequence [AT]GATA[AG] promoter elements; a subset of family members may also bind protein; zinc-finger consensus topology is C-X(2)-C-X(17)-C-X(2)-C
    7. XM_017013801.1XP_016869290.1  zinc finger transcription factor Trps1 isoform X1

    Alternate CHM1_1.1

    Genomic

    1. NC_018919.2 Alternate CHM1_1.1

      Range
      116461345..116721886 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Support Center