U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from MedGen

    • Showing Current items.

    TTC5 tetratricopeptide repeat domain 5 [ Homo sapiens (human) ]

    Gene ID: 91875, updated on 5-Mar-2024

    Summary

    Official Symbol
    TTC5provided by HGNC
    Official Full Name
    tetratricopeptide repeat domain 5provided by HGNC
    Primary source
    HGNC:HGNC:19274
    See related
    Ensembl:ENSG00000136319 MIM:619014; AllianceGenome:HGNC:19274
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    Strap; NEDCAFD
    Summary
    Predicted to enable DNA binding activity and chromatin binding activity. Predicted to be involved in DNA repair. Predicted to act upstream of or within positive regulation of transcription by RNA polymerase II. Located in nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in testis (RPKM 7.6), thyroid (RPKM 6.4) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See TTC5 in Genome Data Viewer
    Location:
    14q11.2
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (20286227..20305951, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (14483002..14502708, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (20754386..20774110, complement)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene olfactory receptor family 11 subfamily H member 4 Neighboring gene uncharacterized LOC124903279 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr14:20763215-20764414 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8067 Neighboring gene MPRA-validated peak2110 silencer Neighboring gene cyclin B1 interacting protein 1 Neighboring gene small nucleolar RNA, H/ACA box 79B Neighboring gene small nucleolar RNA, C/D box 126

    Genomic regions, transcripts, and products

    Expression

    • 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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables chromatin binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables ribosome binding IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in DNA damage response ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in DNA repair IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to starvation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of mRNA catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in cytoplasmic vesicle ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in mitochondrial matrix IEA
    Inferred from Electronic Annotation
    more info
     
    located_in mitochondrion ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    tetratricopeptide repeat protein 5
    Names
    TPR repeat protein 5
    protein Strap
    stress-responsive activator of p300

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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.

    mRNA and Protein(s)

    1. NM_138376.3NP_612385.2  tetratricopeptide repeat protein 5

      See identical proteins and their annotated locations for NP_612385.2

      Status: VALIDATED

      Source sequence(s)
      AL356019, BC030822, BM998414, BX248066, DB051711
      Consensus CDS
      CCDS9546.1
      UniProtKB/Swiss-Prot
      A8MQ18, Q8N0Z6, Q96HF9
      UniProtKB/TrEMBL
      Q86T04
      Related
      ENSP00000258821.3, ENST00000258821.8
      Conserved Domains (3) summary
      COG0457
      Location:38279
      TPR; Tetratricopeptide (TPR) repeat [General function prediction only]
      sd00006
      Location:6897
      TPR; TPR repeat [structural motif]
      pfam16669
      Location:318432
      TTC5_OB; Tetratricopeptide repeat protein 5 OB fold domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    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
      20286227..20305951 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_025791796.1 Reference GRCh38.p14 PATCHES

      Range
      488908..508632 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      14483002..14502708 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)