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    TEKT5 tektin 5 [ Homo sapiens (human) ]

    Gene ID: 146279, updated on 27-Nov-2024

    Summary

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    Official Symbol
    TEKT5provided by HGNC
    Official Full Name
    tektin 5provided by HGNC
    Primary source
    HGNC:HGNC:26554
    See related
    Ensembl:ENSG00000153060 MIM:618686; AllianceGenome:HGNC:26554
    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
    CT149
    Summary
    Predicted to be involved in cilium assembly and flagellated sperm motility. Located in nucleus. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Restricted expression toward testis (RPKM 3.8) See more
    Orthologs
    mouse all
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    Genomic context

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    See TEKT5 in Genome Data Viewer
    Location:
    16p13.13
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (10627501..10694930, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (10663431..10730854, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (10721358..10788787, complement)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 1290 Neighboring gene Sharpr-MPRA regulatory region 3744 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10381 Neighboring gene epithelial membrane protein 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10382 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:10658085-10658281 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:10672481-10673058 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7193 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:10677994-10679193 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:10688146-10688662 Neighboring gene Sharpr-MPRA regulatory region 2211 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10383 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:10715105-10715806 Neighboring gene Sharpr-MPRA regulatory region 10228 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10384 Neighboring gene uncharacterized LOC105371079 Neighboring gene MT-CYB pseudogene 33 Neighboring gene MT-ND6 pseudogene 33 Neighboring gene MT-ND5 pseudogene 33

    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. Exome sequencing supports a de novo mutational paradigm for schizophrenia. Xu B, et al. Nat Genet, 2011 Aug 7. PMID 21822266, Free PMC Article
    2. Genetic variants associated with disordered eating. Wade TD, et al. Int J Eat Disord, 2013 Sep. PMID 23568457, Free PMC Article
    3. Isoform-specific GSK3A activity is negatively correlated with human sperm motility. Freitas MJ, et al. Mol Hum Reprod, 2019 Apr 1. PMID 30824926, Free PMC Article
    4. Systematic interactome mapping of acute lymphoblastic leukemia cancer gene products reveals EXT-1 tumor suppressor as a Notch1 and FBWX7 common interactor. Daakour S, et al. BMC Cancer, 2016 May 26. PMID 27229929, Free PMC Article
    5. E3 ubiquitin ligase RNF123 targets lamin B1 and lamin-binding proteins. Khanna R, et al. FEBS J, 2018 Jun. PMID 29676528

    See all (14) 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
    Genetic variants associated with disordered eating.
    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ32871, MGC163208, MGC163210

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cilium assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cilium movement involved in cell motility IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in flagellated sperm motility ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    is_active_in axonemal A tubule inner sheath ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    is_active_in microtubule cytoskeleton IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus HDA PubMed 
    is_active_in sperm flagellum IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in sperm flagellum ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    tektin-5

    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_144674.2 → NP_653275.1  tektin-5

      Status: VALIDATED

      Source sequence(s)
      AC007595, AK057433
      Consensus CDS
      CCDS10542.1
      UniProtKB/Swiss-Prot
      A1L3Z3, Q96M29
      Related
      ENSP00000283025.2, ENST00000283025.7
      Conserved Domains (1) summary
      pfam03148
      Location:94 → 473
      Tektin; Tektin family

    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_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      10627501..10694930 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      10663431..10730854 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96M29.1 GenPept UniProtKB/Swiss-Prot:Q96M29

    Gene LinkOut

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

    Chemical Information
    Molecular Biology Databases
    Research Materials
    Tools