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    TTC22 tetratricopeptide repeat domain 22 [ Homo sapiens (human) ]

    Gene ID: 55001, updated on 5-Mar-2024

    Summary

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    Official Symbol
    TTC22provided by HGNC
    Official Full Name
    tetratricopeptide repeat domain 22provided by HGNC
    Primary source
    HGNC:HGNC:26067
    See related
    Ensembl:ENSG00000006555 AllianceGenome:HGNC:26067
    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
    Summary
    This gene encodes a protein with seven tetratricopeptide (TPR) repeats. Tetratricopeptide repeat containing motifs are found in a variety of proteins and may mediate protein-protein interactions and chaperone activity. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jun 2011]
    Expression
    Biased expression in esophagus (RPKM 8.5), colon (RPKM 4.0) and 12 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    1p32.3
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (54779712..54801323, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (54659937..54681544, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (55245385..55266996, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene MROH7-TTC4 readthrough (NMD candidate) Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:55181271-55181772 Neighboring gene tetratricopeptide repeat domain 4 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:55229956-55230579 Neighboring gene prolyl-tRNA synthetase 2, mitochondrial Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:55246797-55247339 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:55247340-55247881 Neighboring gene uncharacterized LOC124904182 Neighboring gene Sharpr-MPRA regulatory region 10932 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:55261394-55261933 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:55261934-55262472 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 923 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 924 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:55266799-55267564 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1067 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:55277747-55278246 Neighboring gene ciliary microtubule associated protein 2 Neighboring gene uncharacterized LOC124904183 Neighboring gene MPRA-validated peak246 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:55316729-55317230 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:55317231-55317730 Neighboring gene 24-dehydrocholesterol reductase Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:55348920-55349489 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:55352395-55352896

    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. Revealing PACMA 31 as a new chemical type TrxR inhibitor to promote cancer cell apoptosis. Xu Q, et al. Biochim Biophys Acta Mol Cell Res, 2022 Oct. PMID 35793738
    2. miR663a‑TTC22V1 axis inhibits colon cancer metastasis. Tian W, et al. Oncol Rep, 2019 Mar. PMID 30664167, Free PMC Article
    3. The DNA sequence and biological annotation of human chromosome 1. Gregory SG, et al. Nature, 2006 May 18. PMID 16710414
    4. The midbody interactome reveals unexpected roles for PP1 phosphatases in cytokinesis. Capalbo L, et al. Nat Commun, 2019 Oct 4. PMID 31586073, Free PMC Article
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. Ota T, et al. Nat Genet, 2004 Jan. PMID 14702039

    See all (6) 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

    • FLJ20619

    General protein information

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    Preferred Names
    tetratricopeptide repeat protein 22
    Names
    TPR repeat protein 22

    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_029054.2 RefSeqGene

      Range
      5000..26611
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001114108.2 → NP_001107580.1  tetratricopeptide repeat protein 22 isoform 1

      See identical proteins and their annotated locations for NP_001107580.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AC096536, AL139244
      Consensus CDS
      CCDS44152.1
      UniProtKB/Swiss-Prot
      Q5TAA0, Q9NWT4
      Related
      ENSP00000360323.4, ENST00000371276.9
      Conserved Domains (1) summary
      sd00006
      Location:65 → 95
      TPR; TPR repeat [structural motif]

    2. NM_017904.4 → NP_060374.2  tetratricopeptide repeat protein 22 isoform 2

      See identical proteins and their annotated locations for NP_060374.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 3' UTR and has multiple coding region differences, compared to variant 1. The resulting protein (isoform 2) has a distinct C-terminus and is shorter than isoform 1.
      Source sequence(s)
      AC096536, AL139244
      Consensus CDS
      CCDS598.1
      UniProtKB/Swiss-Prot
      Q5TAA0
      Related
      ENSP00000360321.4, ENST00000371274.8
      Conserved Domains (1) summary
      sd00006
      Location:65 → 95
      TPR; TPR repeat [structural motif]

    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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      54779712..54801323 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011541671.3 → XP_011539973.1  tetratricopeptide repeat protein 22 isoform X1

      Conserved Domains (1) summary
      sd00006
      Location:294 → 324
      TPR; TPR repeat [structural motif]

    2. XM_017001582.2 → XP_016857071.1  tetratricopeptide repeat protein 22 isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      54659937..54681544 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054337293.1 → XP_054193268.1  tetratricopeptide repeat protein 22 isoform X1

    2. XM_054337294.1 → XP_054193269.1  tetratricopeptide repeat protein 22 isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5TAA0.1 GenPept UniProtKB/Swiss-Prot:Q5TAA0

    Gene LinkOut

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

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