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

    Gene ID: 151613, updated on 10-Dec-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, Dec 2024]
    Expression
    Ubiquitous expression in lymph node (RPKM 14.0), thyroid (RPKM 12.2) and 25 other tissues See more
    Orthologs
    mouse all
    NEW
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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
    • 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)

    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

      UniProtKB/TrEMBL
      Q69YS0

    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

      UniProtKB/TrEMBL
      Q69YS0

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

      UniProtKB/TrEMBL
      Q69YS0

    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

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

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