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    TTC38 tetratricopeptide repeat domain 38 [ Homo sapiens (human) ]

    Gene ID: 55020, updated on 3-Apr-2024

    Summary

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    Official Symbol
    TTC38provided by HGNC
    Official Full Name
    tetratricopeptide repeat domain 38provided by HGNC
    Primary source
    HGNC:HGNC:26082
    See related
    Ensembl:ENSG00000075234 AllianceGenome:HGNC:26082
    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
    LL22NC03-5H6.5
    Summary
    Located in extracellular exosome. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Broad expression in kidney (RPKM 26.4), small intestine (RPKM 22.0) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    22q13.31
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (46268008..46294008)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (46752708..46778705)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (46663905..46689905)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13905 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:46645973-46646480 Neighboring gene cysteine rich DPF motif domain containing 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19233 Neighboring gene polycystin family receptor for egg jelly Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13907 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13908 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13909 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19234 Neighboring gene GTSE1 divergent transcript Neighboring gene G2 and S-phase expressed 1 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr22:46718535-46719734

    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
    • 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. New genes associated with rheumatoid arthritis identified by gene expression profiling. Wang H, et al. Int J Immunogenet, 2017 Jun. PMID 28371410
    2. A directed protein interaction network for investigating intracellular signal transduction. Vinayagam A, et al. Sci Signal, 2011 Sep 6. PMID 21900206
    3. The involvement of Parkin-dependent mitophagy in the anti-cancer activity of Ginsenoside. Sun X, et al. J Ginseng Res, 2022 Mar. PMID 35509820, Free PMC Article
    4. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. Lamesch P, et al. Genomics, 2007 Mar. PMID 17207965, Free PMC Article
    5. UFMylation maintains tumour suppressor p53 stability by antagonizing its ubiquitination. Liu J, et al. Nat Cell Biol, 2020 Sep. PMID 32807901

    See all (15) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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

    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

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ20699

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    located_in extracellular exosome HDA PubMed 

    General protein information

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    Preferred Names
    tetratricopeptide repeat protein 38
    Names
    TPR repeat protein 38

    NCBI Reference Sequences (RefSeq)

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    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_017931.4 → NP_060401.3  tetratricopeptide repeat protein 38

      Status: VALIDATED

      Source sequence(s)
      Z93024
      Consensus CDS
      CCDS43030.1
      UniProtKB/Swiss-Prot
      Q5R3I4, Q8WV27, Q9NWP8
      UniProtKB/TrEMBL
      B4DUE0
      Related
      ENSP00000370419.3, ENST00000381031.8
      Conserved Domains (1) summary
      cd05804
      Location:60 → 423
      StaR_like; a well-conserved protein found in bacteria, plants, and animals. A family member from Streptomyces toyocaensis, StaR is part of a gene cluster involved in the biosynthesis of glycopeptide antibiotics (GPAs), specifically A47934. It has been speculated ...

    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_000022.11 Reference GRCh38.p14 Primary Assembly

      Range
      46268008..46294008
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047441439.1 → XP_047297395.1  tetratricopeptide repeat protein 38 isoform X3

    2. XM_047441440.1 → XP_047297396.1  tetratricopeptide repeat protein 38 isoform X4

      Related
      ENSP00000406604.1, ENST00000422713.1

    3. XM_011530260.4 → XP_011528562.1  tetratricopeptide repeat protein 38 isoform X2

      UniProtKB/TrEMBL
      A9UJP8
      Related
      ENSP00000410095.1, ENST00000421359.5
      Conserved Domains (1) summary
      cd05804
      Location:60 → 206
      StaR_like; StaR_like; a well-conserved protein found in bacteria, plants, and animals. A family member from Streptomyces toyocaensis, StaR is part of a gene cluster involved in the biosynthesis of glycopeptide antibiotics (GPAs), specifically A47934. It has been ...

    4. XM_047441438.1 → XP_047297394.1  tetratricopeptide repeat protein 38 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060946.1 Alternate T2T-CHM13v2.0

      Range
      46752708..46778705
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054325772.1 → XP_054181747.1  tetratricopeptide repeat protein 38 isoform X3

    2. XM_054325773.1 → XP_054181748.1  tetratricopeptide repeat protein 38 isoform X4

    3. XM_054325771.1 → XP_054181746.1  tetratricopeptide repeat protein 38 isoform X2

    4. XM_054325770.1 → XP_054181745.1  tetratricopeptide repeat protein 38 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5R3I4.1 GenPept UniProtKB/Swiss-Prot:Q5R3I4

    Gene LinkOut

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