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TTC14 tetratricopeptide repeat domain 14 [ Homo sapiens (human) ]

Gene ID: 151613, updated on 28-Oct-2024

Summary

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Official Symbol
TTC14provided by HGNC
Official Full Name
tetratricopeptide repeat domain 14provided by HGNC
Primary source
HGNC:HGNC:24697
See related
Ensembl:ENSG00000163728 AllianceGenome:HGNC:24697
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
DRDL5813; PRO19630
Summary
Predicted to enable nucleic acid binding activity. [provided by Alliance of Genome Resources, Oct 2024]
Expression
Ubiquitous expression in lymph node (RPKM 14.0), thyroid (RPKM 12.2) and 25 other tissues See more
Orthologs
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Genomic context

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See TTC14 in Genome Data Viewer
Location:
3q26.33
Exon count:
11
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (180602163..180618329)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (183404025..183420190)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (180319951..180336117)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene TTC14 divergent transcript Neighboring gene U8 small nucleolar RNA Neighboring gene RNA, U6 small nuclear 486, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20875 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:180323279-180323534 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14926 Neighboring gene coiled-coil domain 39 molecular ruler complex subunit Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20876 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20877 Neighboring gene CCDC39 antisense RNA 1 Neighboring gene uncharacterized LOC101928882 Neighboring gene VISTA enhancer hs258 Neighboring gene RNA, 7SL, cytoplasmic 229, pseudogene

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 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. Prediction of the coding sequences of unidentified human genes. XXII. The complete sequences of 50 new cDNA clones which code for large proteins. Nagase T, et al. DNA Res, 2001 Dec 31. PMID 11853319
  2. Dynamic protein-protein interaction wiring of the human spliceosome. Hegele A, et al. Mol Cell, 2012 Feb 24. PMID 22365833
  3. Comparative Host Interactomes of the SARS-CoV-2 Nonstructural Protein 3 and Human Coronavirus Homologs. Almasy KM, et al. Mol Cell Proteomics, 2021. PMID 34186245, Free PMC Article
  4. TRIM21 ameliorates hepatic glucose and lipid metabolic disorders in type 2 diabetes mellitus by ubiquitination of PEPCK1 and FASN. Zhang K, et al. Cell Mol Life Sci, 2023 May 30. PMID 37249651, Free PMC Article
  5. Pro-prion, as a membrane adaptor protein for E3 ligase c-Cbl, facilitates the ubiquitination of IGF-1R, promoting melanoma metastasis. Li H, et al. Cell Rep, 2022 Dec 20. PMID 36543142

See all (23) 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

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

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ00166, KIAA1980, DKFZp313M1015

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables nucleic acid binding IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
tetratricopeptide repeat protein 14
Names
TPR repeat protein 14

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_001042601.3 → NP_001036066.1  tetratricopeptide repeat protein 14 isoform b

    See identical proteins and their annotated locations for NP_001036066.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) retains two alternate introns compared to variant 1. The resulting isoform (b) has a shorter and distinct C-terminus compared to isoform a.
    Source sequence(s)
    AI742462, AI811067, AL832052, AL833086, BX474122
    Consensus CDS
    CCDS46963.1
    UniProtKB/TrEMBL
    Q69YS0
    Related
    ENSP00000413743.2, ENST00000412756.6
    Conserved Domains (4) summary
    smart00316
    Location:124 → 207
    S1; Ribosomal protein S1-like RNA-binding domain
    sd00006
    Location:307 → 335
    TPR; TPR repeat [structural motif]
    pfam00515
    Location:341 → 374
    TPR_1; Tetratricopeptide repeat
    pfam13414
    Location:307 → 372
    TPR_11; TPR repeat

  2. NM_001288582.2 → NP_001275511.1  tetratricopeptide repeat protein 14 isoform c

    See identical proteins and their annotated locations for NP_001275511.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 3' UTR and coding sequence compared to variant 1. The resulting isoform (c) has a shorter and distinct C-terminus compared to isoform a.
    Source sequence(s)
    AC068298, AI088990, AY358762, BU684626, BX474122
    Consensus CDS
    CCDS75055.1
    UniProtKB/Swiss-Prot
    Q96N46
    Related
    ENSP00000372027.4, ENST00000382584.8
    Conserved Domains (4) summary
    smart00316
    Location:124 → 207
    S1; Ribosomal protein S1-like RNA-binding domain
    sd00006
    Location:307 → 335
    TPR; TPR repeat [structural motif]
    pfam00515
    Location:341 → 374
    TPR_1; Tetratricopeptide repeat
    pfam13414
    Location:307 → 372
    TPR_11; TPR repeat

  3. NM_133462.4 → NP_597719.1  tetratricopeptide repeat protein 14 isoform a

    See identical proteins and their annotated locations for NP_597719.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (a).
    Source sequence(s)
    AB075860, AI742462, AI811067, AK055984, BX474122
    Consensus CDS
    CCDS3237.1
    UniProtKB/Swiss-Prot
    G5E9X0, Q6UWJ7, Q8TF22, Q96N46
    Related
    ENSP00000296015.4, ENST00000296015.9
    Conserved Domains (3) summary
    smart00316
    Location:124 → 207
    S1; Ribosomal protein S1-like RNA-binding domain
    COG0457
    Location:290 → 437
    TPR; Tetratricopeptide (TPR) repeat [General function prediction only]
    sd00006
    Location:307 → 335
    TPR; TPR repeat [structural motif]

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

    Range
    180602163..180618329
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017005739.3 → XP_016861228.1  tetratricopeptide repeat protein 14 isoform X1

  2. XM_017005740.2 → XP_016861229.1  tetratricopeptide repeat protein 14 isoform X3

    UniProtKB/TrEMBL
    Q69YS0

  3. XM_047447485.1 → XP_047303441.1  tetratricopeptide repeat protein 14 isoform X4

  4. XM_047447484.1 → XP_047303440.1  tetratricopeptide repeat protein 14 isoform X2

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    183404025..183420190
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054345318.1 → XP_054201293.1  tetratricopeptide repeat protein 14 isoform X1

  2. XM_054345320.1 → XP_054201295.1  tetratricopeptide repeat protein 14 isoform X3

  3. XM_054345321.1 → XP_054201296.1  tetratricopeptide repeat protein 14 isoform X4

  4. XM_054345319.1 → XP_054201294.1  tetratricopeptide repeat protein 14 isoform X2

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q96N46.1 GenPept UniProtKB/Swiss-Prot:Q96N46

Gene LinkOut

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