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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
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Genomic context

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See TTC38 in Genome Data Viewer
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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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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