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    TTC6 tetratricopeptide repeat domain 6 [ Homo sapiens (human) ]

    Gene ID: 319089, updated on 7-Apr-2024

    Summary

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    Official Symbol
    TTC6provided by HGNC
    Official Full Name
    tetratricopeptide repeat domain 6provided by HGNC
    Primary source
    HGNC:HGNC:19739
    See related
    Ensembl:ENSG00000139865 AllianceGenome:HGNC:19739
    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
    C14orf25; NCRNA00291
    Expression
    Biased expression in prostate (RPKM 2.5), testis (RPKM 2.0) and 3 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    14q21.1
    Exon count:
    43
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (37595629..37842717)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (31784758..32031773)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (38064834..38311922)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene mirror-image polydactyly 1 Neighboring gene FOXA motif-containing MPRA enhancer 271 Neighboring gene RNA, U6 small nuclear 886, pseudogene Neighboring gene Sharpr-MPRA regulatory region 2445 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:38057104-38057944 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:38060408-38060957 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr14:38064763-38065962 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:38069061-38069730 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:38068389-38069060 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr14:38124049-38125248 Neighboring gene forkhead box A1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:38255187-38255688 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:38255689-38256188 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:38304329-38304828 Neighboring gene RNA, U6 small nuclear 1277, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5683 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr14:38363413-38364243 Neighboring gene long intergenic non-protein coding RNA 517 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:38463923-38464596 Neighboring gene uncharacterized LOC105370456 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr14:38473631-38474167

    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. A genome-wide association meta-analysis of self-reported allergy identifies shared and allergy-specific susceptibility loci. Hinds DA, et al. Nat Genet, 2013 Aug. PMID 23817569, Free PMC Article
    2. NudCL2 regulates cell migration by stabilizing both myosin-9 and LIS1 with Hsp90. Chen W, et al. Cell Death Dis, 2020 Jul 14. PMID 32665550, Free PMC Article
    3. Genetic susceptibility to distinct bladder cancer subphenotypes. Guey LT, et al. Eur Urol, 2010 Feb. PMID 19692168, Free PMC Article
    4. The sequence of the human genome. Venter JC, et al. Science, 2001 Feb 16. PMID 11181995
    5. Cell cycle-dependent phosphorylation regulates RECQL4 pathway choice and ubiquitination in DNA double-strand break repair. Lu H, et al. Nat Commun, 2017 Dec 11. PMID 29229926, Free PMC Article

    See all (9) 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.
    2. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic susceptibility to distinct bladder cancer subphenotypes.
    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
    A genome-wide association meta-analysis of self-reported allergy identifies shared and allergy-specific susceptibility loci.
    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

    • MGC119358, MGC119360, MGC119361

    General protein information

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    Preferred Names
    tetratricopeptide repeat protein 6
    Names
    TPR repeat protein 6

    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_001310135.5 → NP_001297064.2  tetratricopeptide repeat protein 6 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AL121790, AL136296, AL163151
      Consensus CDS
      CCDS91870.1
      UniProtKB/TrEMBL
      G3V3A5
      Related
      ENSP00000451131.1, ENST00000553443.6
      Conserved Domains (4) summary
      smart00028
      Location:1816 → 1849
      TPR; Tetratricopeptide repeats
      COG5010
      Location:1831 → 1879
      TadD; Flp pilus assembly protein TadD, contains TPR repeats [Intracellular trafficking, secretion, and vesicular transport, Extracellular structures]
      TIGR02917
      Location:924 → 1808
      PEP_TPR_lipo; putative PEP-CTERM system TPR-repeat lipoprotein
      sd00006
      Location:1750 → 1776
      TPR; TPR repeat [structural motif]

    2. NM_001368142.2 → NP_001355071.1  tetratricopeptide repeat protein 6 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AL136296, AL163151
      Consensus CDS
      CCDS91871.1
      UniProtKB/Swiss-Prot
      Q3SY88, Q86TZ1, Q96CE6
      Related
      ENSP00000417788.1, ENST00000476979.5

    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
      37595629..37842717
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017021254.2 → XP_016876743.1  tetratricopeptide repeat protein 6 isoform X2

    2. XM_017021255.2 → XP_016876744.1  tetratricopeptide repeat protein 6 isoform X3

    3. XM_047431335.1 → XP_047287291.1  tetratricopeptide repeat protein 6 isoform X5

    4. XM_047431337.1 → XP_047287293.1  tetratricopeptide repeat protein 6 isoform X9

    5. XM_011537432.3 → XP_011535734.1  tetratricopeptide repeat protein 6 isoform X7

      See identical proteins and their annotated locations for XP_011535734.1

      Conserved Domains (3) summary
      COG0457
      Location:888 → 1153
      TPR; Tetratricopeptide (TPR) repeat [General function prediction only]
      sd00006
      Location:1069 → 1096
      TPR; TPR repeat [structural motif]
      pfam00515
      Location:933 → 964
      TPR_1; Tetratricopeptide repeat

    6. XM_017021257.2 → XP_016876746.1  tetratricopeptide repeat protein 6 isoform X10

    7. XM_047431332.1 → XP_047287288.1  tetratricopeptide repeat protein 6 isoform X1

    8. XM_047431333.1 → XP_047287289.1  tetratricopeptide repeat protein 6 isoform X1

    9. XM_047431334.1 → XP_047287290.1  tetratricopeptide repeat protein 6 isoform X4

    10. XM_017021256.2 → XP_016876745.1  tetratricopeptide repeat protein 6 isoform X4

    11. XM_011537431.3 → XP_011535733.1  tetratricopeptide repeat protein 6 isoform X6

      Conserved Domains (5) summary
      smart00028
      Location:1253 → 1286
      TPR; Tetratricopeptide repeats
      TIGR02917
      Location:353 → 1245
      PEP_TPR_lipo; putative PEP-CTERM system TPR-repeat lipoprotein
      sd00006
      Location:1187 → 1213
      TPR; TPR repeat [structural motif]
      pfam00515
      Location:346 → 377
      TPR_1; Tetratricopeptide repeat
      pfam13414
      Location:1253 → 1317
      TPR_11; TPR repeat

    12. XM_047431336.1 → XP_047287292.1  tetratricopeptide repeat protein 6 isoform X8

    RNA

    1. XR_007064009.1 RNA Sequence

    2. XR_001750287.2 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      31784758..32031773
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054375963.1 → XP_054231938.1  tetratricopeptide repeat protein 6 isoform X2

    2. XM_054375965.1 → XP_054231940.1  tetratricopeptide repeat protein 6 isoform X3

    3. XM_054375968.1 → XP_054231943.1  tetratricopeptide repeat protein 6 isoform X5

    4. XM_054375972.1 → XP_054231947.1  tetratricopeptide repeat protein 6 isoform X9

    5. XM_054375970.1 → XP_054231945.1  tetratricopeptide repeat protein 6 isoform X7

    6. XM_054375973.1 → XP_054231948.1  tetratricopeptide repeat protein 6 isoform X10

    7. XM_054375964.1 → XP_054231939.1  tetratricopeptide repeat protein 6 isoform X1

    8. XM_054375962.1 → XP_054231937.1  tetratricopeptide repeat protein 6 isoform X1

    9. XM_054375967.1 → XP_054231942.1  tetratricopeptide repeat protein 6 isoform X4

    10. XM_054375966.1 → XP_054231941.1  tetratricopeptide repeat protein 6 isoform X4

    11. XM_054375969.1 → XP_054231944.1  tetratricopeptide repeat protein 6 isoform X6

    12. XM_054375971.1 → XP_054231946.1  tetratricopeptide repeat protein 6 isoform X8

    RNA

    1. XR_008488860.1 RNA Sequence

    2. XR_008488861.1 RNA Sequence

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001007795.1: Suppressed sequence

      Description
      NM_001007795.1: This RefSeq was permanently suppressed because the CDS was partial.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q86TZ1.1 GenPept UniProtKB/Swiss-Prot:Q86TZ1

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