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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
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Genomic context

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See TTC6 in Genome Data Viewer
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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