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    TIMELESS timeless circadian regulator [ Homo sapiens (human) ]

    Gene ID: 8914, updated on 7-Apr-2024

    Summary

    Official Symbol
    TIMELESSprovided by HGNC
    Official Full Name
    timeless circadian regulatorprovided by HGNC
    Primary source
    HGNC:HGNC:11813
    See related
    Ensembl:ENSG00000111602 MIM:603887; AllianceGenome:HGNC:11813
    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; FASPS4
    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]
    Expression
    Ubiquitous expression in lymph node (RPKM 8.6), bone marrow (RPKM 8.5) and 25 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See TIMELESS in Genome Data Viewer
    Location:
    12q13.3
    Exon count:
    29
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (56416363..56449426, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (56384058..56417137, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (56810147..56843210, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene TBCC domain containing 1 pseudogene Neighboring gene apolipoprotein N, pseudogene Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr12:56795121-56795653 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr12:56817170-56818369 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr12:56837017-56837650 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:56842091-56842611 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6496 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6497 Neighboring gene major intrinsic protein of lens fiber Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6498 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6499 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6500 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6501 Neighboring gene SPRY domain containing 4 Neighboring gene glutaminase 2

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Advance sleep phase syndrome, familial, 4
    MedGen: C5774204 OMIM: 620015 GeneReviews: Not available
    not available

    EBI GWAS Catalog

    Description
    Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.
    EBI GWAS Catalog
    Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ12640, FLJ20714

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables identical protein binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in DNA damage response IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in DNA damage response ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in DNA repair IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in DNA replication checkpoint signaling IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in branching morphogenesis of an epithelial tube IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cell cycle phase transition IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cell division IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to bleomycin IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cellular response to cisplatin IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cellular response to hydroxyurea IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in circadian rhythm ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in detection of abiotic stimulus TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in lung development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in morphogenesis of an epithelium ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of DNA-templated transcription IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of double-strand break repair IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of double-strand break repair via homologous recombination IDA
    Inferred from Direct Assay
    more info
    PubMed 
    NOT involved_in regulation of cell population proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of circadian rhythm IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in replication fork arrest IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    part_of chromatin IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    located_in nucleus IC
    Inferred by Curator
    more info
    PubMed 
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of replication fork protection complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in site of double-strand break IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    protein timeless homolog
    Names
    Tof1 homolog
    timeless circadian clock 1
    timeless homolog

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001330295.2NP_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)
      AC024884
      Consensus CDS
      CCDS81699.1
      UniProtKB/Swiss-Prot
      Q9UNS1
      Related
      ENSP00000229201.4, ENST00000229201.4
      Conserved Domains (2) summary
      pfam05029
      Location:7271199
      TIMELESS_C; Timeless protein C terminal region
      pfam04821
      Location:25283
      TIMELESS; Timeless protein
    2. NM_003920.5NP_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)
      AC024884
      Consensus CDS
      CCDS8918.1
      UniProtKB/Swiss-Prot
      B2ZAV0, O94802, Q86VM1, Q8IWH3, Q9UNS1
      Related
      ENSP00000450607.1, ENST00000553532.6
      Conserved Domains (2) summary
      pfam04821
      Location:25284
      TIMELESS; Timeless protein
      pfam05029
      Location:10061092
      TIMELESS_C; Timeless protein C terminal region

    RNA

    1. NR_138471.2 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)
      AC024884

    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_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      56416363..56449426 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      56384058..56417137 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)