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    TIMELESS timeless circadian clock [ Homo sapiens (human) ]

    Gene ID: 8914, updated on 22-Apr-2017
    Official Symbol
    TIMELESSprovided by HGNC
    Official Full Name
    timeless circadian clockprovided by HGNC
    Primary source
    HGNC:HGNC:11813
    See related
    Ensembl:ENSG00000111602 MIM:603887; Vega:OTTHUMG00000170600
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    TIM; TIM1; hTIM
    Summary
    The protein encoded by this gene is highly conserved and is involved in cell survival after damage or stress, increase in DNA polymerase epsilon activity, maintenance of telomere length, and epithelial cell morphogenesis. The encoded protein also plays a role in the circadian rhythm autoregulatory loop, interacting with the PERIOD genes (PER1, PER2, and PER3) and others to downregulate activation of PER1 by CLOCK/ARNTL. Changes in this gene or its expression may promote prostate cancer, lung cancer, breast cancer, and mental disorders. [provided by RefSeq, Feb 2014]
    Orthologs
    Location:
    12q13.3
    Exon count:
    29
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 12 NC_000012.12 (56416373..56449416, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (56810157..56843200, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene apolipoprotein F pseudogene Neighboring gene TBCC domain containing 1 pseudogene Neighboring gene major intrinsic protein of lens fiber Neighboring gene SPRY domain containing 4 Neighboring gene glutaminase 2

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    NHGRI GWAS Catalog

    Description
    Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.
    NHGRI GWA Catalog
    Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error.
    NHGRI GWA Catalog
    • Circadian rhythm pathway, organism-specific biosystem (from Pathway Interaction Database)
      Circadian rhythm pathway, organism-specific biosystem
      Circadian rhythm pathway
    • Circadian rythm related genes, organism-specific biosystem (from WikiPathways)
      Circadian rythm related genes, organism-specific biosystemThis is currently not a pathway but a list of circadian rhythm related genes and proteins. The source for this information is the gene ontology. The genes and proteins were filtered for "circadian rh...
    • DNA Double-Strand Break Repair, organism-specific biosystem (from REACTOME)
      DNA Double-Strand Break Repair, organism-specific biosystemNumerous types of DNA damage can occur within a cell due to the endogenous production of oxygen free radicals, normal alkylation reactions, or exposure to exogenous radiations and chemicals. Double-s...
    • DNA Repair, organism-specific biosystem (from REACTOME)
      DNA Repair, organism-specific biosystemDNA repair is a phenomenal multi-enzyme, multi-pathway system required to ensure the integrity of the cellular genome. Living organisms are constantly exposed to harmful metabolic by-products, enviro...
    • HDR through Homologous Recombination (HR) or Single Strand Annealing (SSA), organism-specific biosystem (from REACTOME)
      HDR through Homologous Recombination (HR) or Single Strand Annealing (SSA), organism-specific biosystemHomology directed repair (HDR) of replication-independent DNA double strand breaks (DSBs) via homologous recombination repair (HRR) or single strand annealing (SSA) requires the activation of ATM fol...
    • Homology Directed Repair, organism-specific biosystem (from REACTOME)
      Homology Directed Repair, organism-specific biosystemHomology directed repair (HDR) of DNA double strand breaks (DSBs) requires resection of DNA DSB ends. Resection creates 3'-ssDNA overhangs which then anneal with a homologous DNA sequence. This homol...
    • Processing of DNA double-strand break ends, organism-specific biosystem (from REACTOME)
      Processing of DNA double-strand break ends, organism-specific biosystemHomology directed repair (HDR) through homologous recombination (HRR) or single strand annealing (SSA) requires extensive resection of DNA double strand break (DSB) ends (Thompson and Limoli 2003, Ci...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ12640, FLJ20714

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein heterodimerization activity IEA
    Inferred from Electronic Annotation
    more info
     
    protein homodimerization activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    DNA replication TAS
    Traceable Author Statement
    more info
     
    branching morphogenesis of an epithelial tube IEA
    Inferred from Electronic Annotation
    more info
     
    cell cycle phase transition IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cell division IEA
    Inferred from Electronic Annotation
    more info
     
    cellular response to DNA damage stimulus IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cellular response to DNA damage stimulus ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cellular response to bleomycin IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cellular response to cisplatin IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cellular response to hydroxyurea IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    circadian rhythm ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    detection of abiotic stimulus TAS
    Traceable Author Statement
    more info
    PubMed 
    lung development IEA
    Inferred from Electronic Annotation
    more info
     
    morphogenesis of an epithelium ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    negative regulation of transcription from RNA polymerase II promoter IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of transcription, DNA-templated IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of double-strand break repair IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    NOT regulation of cell proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of circadian rhythm IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    response to abiotic stimulus TAS
    Traceable Author Statement
    more info
    PubMed 
    transcription, DNA-templated IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    nuclear chromatin IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleoplasm TAS
    Traceable Author Statement
    more info
     
    nucleus IC
    Inferred by Curator
    more info
    PubMed 
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    protein timeless homolog
    Names
    Tof1 homolog
    timeless circadian clock 1
    timeless homolog

    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_001330295.1NP_001317224.1  protein timeless homolog isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region compared to variant 1. The encoded isoform (2) has the same N- and C-termini, but is one amino acid shorter than isoform 1.
      Source sequence(s)
      AF098162, AK000721, BC031514, BC039842, BE503292, HY040179
      Consensus CDS
      CCDS81699.1
      UniProtKB/Swiss-Prot
      Q9UNS1
      Conserved Domains (2) summary
      pfam05029
      Location:7271199
      TIMELESS_C; Timeless protein C terminal region
      pfam04821
      Location:25283
      TIMELESS; Timeless protein
    2. NM_003920.4NP_003911.2  protein timeless homolog isoform 1

      See identical proteins and their annotated locations for NP_003911.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1).
      Source sequence(s)
      AF098162, AK000721, BC031514, BE503292, HY040179
      Consensus CDS
      CCDS8918.1
      UniProtKB/Swiss-Prot
      Q9UNS1
      Related
      ENSP00000450607.1, OTTHUMP00000244115, ENST00000553532.5, OTTHUMT00000409771
      Conserved Domains (2) summary
      pfam05029
      Location:7281200
      TIMELESS_C; Timeless protein C terminal region
      pfam04821
      Location:25284
      TIMELESS; Timeless protein

    RNA

    1. NR_138471.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) contains an alternate splice site in an internal exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AF098162, AK000721, BC031514, BE503292, BX640990, HY040179

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p7 Primary Assembly

      Range
      56416373..56449416 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011538939.2XP_011537241.1  protein timeless homolog isoform X1

      Related
      ENSP00000229201.4, OTTHUMP00000244116, ENST00000229201.4, OTTHUMT00000409772
      Conserved Domains (2) summary
      pfam05029
      Location:7271199
      TIMELESS_C; Timeless protein C terminal region
      pfam04821
      Location:25283
      TIMELESS; Timeless protein

    RNA

    1. XR_001748911.1 RNA Sequence

    Alternate CHM1_1.1

    Genomic

    1. NC_018923.2 Alternate CHM1_1.1

      Range
      56777536..56810809 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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