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    TTC27 tetratricopeptide repeat domain 27 [ Homo sapiens (human) ]

    Gene ID: 55622, updated on 5-Mar-2024

    Summary

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    Official Symbol
    TTC27provided by HGNC
    Official Full Name
    tetratricopeptide repeat domain 27provided by HGNC
    Primary source
    HGNC:HGNC:25986
    See related
    Ensembl:ENSG00000018699 AllianceGenome:HGNC:25986
    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
    Expression
    Ubiquitous expression in testis (RPKM 8.0), thyroid (RPKM 6.7) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    2p22.3
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (32628050..32821051)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (32676701..32869813)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (32853117..33046118)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene baculoviral IAP repeat containing 6 Neighboring gene BIRC6 antisense RNA 2 Neighboring gene uncharacterized LOC124905985 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:32852317-32852978 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:32852979-32853638 Neighboring gene microRNA 4765 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr2:32962230-32963429 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15561 Neighboring gene Sharpr-MPRA regulatory region 12694 Neighboring gene long intergenic non-protein coding RNA 486 Neighboring gene Sharpr-MPRA regulatory region 6729 Neighboring gene uncharacterized LOC105374453 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:33111152-33111352

    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. Multiple loci influencing hippocampal degeneration identified by genome scan. Melville SA, et al. Ann Neurol, 2012 Jul. PMID 22745009, Free PMC Article
    2. FBXL12-Mediated Degradation of ALDH3 is Essential for Trophoblast Differentiation During Placental Development. Nishiyama M, et al. Stem Cells, 2015 Nov. PMID 26124079
    3. SUMO-specific protease 2 (SENP2) suppresses keratinocyte migration by targeting NDR1 for de-SUMOylation. Xiao N, et al. FASEB J, 2019 Jan. PMID 29969578
    4. CTDP1 regulates breast cancer survival and DNA repair through BRCT-specific interactions with FANCI. Hu WF, et al. Cell Death Discov, 2019. PMID 31240132, Free PMC Article
    5. Tumor-derived neomorphic mutations in ASXL1 impairs the BAP1-ASXL1-FOXK1/K2 transcription network. Xia YK, et al. Protein Cell, 2021 Jul. PMID 32683582, Free PMC Article

    See all (54) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    Submit: New GeneRIF Correction

    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

    EBI GWAS Catalog

    Description
    Multiple loci influencing hippocampal degeneration identified by genome scan.
    EBI GWAS Catalog

    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

    • FLJ20272

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables molecular_function ND
    No biological Data available
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in biological_process ND
    No biological Data available
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cellular_component ND
    No biological Data available
    more info
    		  

    General protein information

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    Preferred Names
    tetratricopeptide repeat protein 27
    Names
    TPR repeat protein 27

    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_001193509.2 → NP_001180438.1  tetratricopeptide repeat protein 27 isoform 2

      See identical proteins and their annotated locations for NP_001180438.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses a different splice site in its first exon, which results in the use of a downstream, in-frame, start codon, compared to variant 1. The resulting protein (isoform 2) has a shorter N-terminus when it is compared to isoform 1.
      Source sequence(s)
      AL121656, AL133246
      UniProtKB/TrEMBL
      B4DRC7
      Conserved Domains (3) summary
      sd00006
      Location:477 → 505
      TPR; TPR repeat [structural motif]
      pfam07719
      Location:513 → 544
      TPR_2; Tetratricopeptide repeat
      pfam13414
      Location:513 → 575
      TPR_11; TPR repeat

    2. NM_017735.5 → NP_060205.3  tetratricopeptide repeat protein 27 isoform 1

      See identical proteins and their annotated locations for NP_060205.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and it encodes the longer protein (isoform 1).
      Source sequence(s)
      AL121656, AL133246
      Consensus CDS
      CCDS33176.1
      UniProtKB/Swiss-Prot
      A6NKJ0, Q6P3X3, Q96SS5, Q9BVF1, Q9NWR4, Q9NXG4
      Related
      ENSP00000313953.4, ENST00000317907.9
      Conserved Domains (2) summary
      COG0457
      Location:475 → 631
      TPR; Tetratricopeptide (TPR) repeat [General function prediction only]
      sd00006
      Location:527 → 555
      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_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      32628050..32821051
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011532958.3 → XP_011531260.1  tetratricopeptide repeat protein 27 isoform X1

      Conserved Domains (2) summary
      sd00006
      Location:527 → 555
      TPR; TPR repeat [structural motif]
      pfam13414
      Location:526 → 592
      TPR_11; TPR repeat

    2. XM_005264416.3 → XP_005264473.1  tetratricopeptide repeat protein 27 isoform X2

      Conserved Domains (3) summary
      sd00006
      Location:486 → 514
      TPR; TPR repeat [structural motif]
      pfam07719
      Location:522 → 553
      TPR_2; Tetratricopeptide repeat
      pfam13414
      Location:522 → 584
      TPR_11; TPR repeat

    3. XM_047444937.1 → XP_047300893.1  tetratricopeptide repeat protein 27 isoform X3

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      32676701..32869813
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054342863.1 → XP_054198838.1  tetratricopeptide repeat protein 27 isoform X1

    2. XM_054342864.1 → XP_054198839.1  tetratricopeptide repeat protein 27 isoform X2

    3. XM_054342865.1 → XP_054198840.1  tetratricopeptide repeat protein 27 isoform X3

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6P3X3.1 GenPept UniProtKB/Swiss-Prot:Q6P3X3

    Gene LinkOut

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

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