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    TCL1A TCL1 family AKT coactivator A [ Homo sapiens (human) ]

    Gene ID: 8115, updated on 11-Apr-2024

    Summary

    Official Symbol
    TCL1Aprovided by HGNC
    Official Full Name
    TCL1 family AKT coactivator Aprovided by HGNC
    Primary source
    HGNC:HGNC:11648
    See related
    Ensembl:ENSG00000100721 MIM:186960; AllianceGenome:HGNC:11648
    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
    TCL1
    Summary
    Overexpression of the TCL1 gene in humans has been implicated in the development of mature T cell leukemia, in which chromosomal rearrangements bring the TCL1 gene in close proximity to the T-cell antigen receptor (TCR)-alpha (MIM 186880) or TCR-beta (MIM 186930) regulatory elements (summarized by Virgilio et al., 1998 [PubMed 9520462]). In normal T cells TCL1 is expressed in CD4-/CD8- cells, but not in cells at later stages of differentiation. TCL1 functions as a coactivator of the cell survival kinase AKT (MIM 164730) (Laine et al., 2000 [PubMed 10983986]).[supplied by OMIM, Jul 2010]
    Expression
    Biased expression in lymph node (RPKM 72.1), spleen (RPKM 19.8) and 2 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    Location:
    14q32.13
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (95709947..95714125, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (89941532..89945710, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (96176284..96180462, complement)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene TCL1 family AKT coactivator B Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8969 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8970 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8971 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8972 Neighboring gene uncharacterized LOC124903373 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8973 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8974 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8975 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8976 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6050 Neighboring gene uncharacterized LOC107984703 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8977 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8978 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8979 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8980 Neighboring gene ReSE screen-validated silencer GRCh37_chr14:96237254-96237437 Neighboring gene uncharacterized LOC105370644

    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

    EBI GWAS Catalog

    Description
    Genome-wide associations and functional genomic studies of musculoskeletal adverse events in women receiving aromatase inhibitors.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables identical protein binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein kinase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein serine/threonine kinase activator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables protein serine/threonine kinase activator activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein serine/threonine kinase activator activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in intracellular signal transduction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     

    General protein information

    Preferred Names
    T-cell leukemia/lymphoma protein 1A
    Names
    T cell leukemia/lymphoma 1A
    T-cell lymphoma-1
    oncogene TCL-1
    oncogene TCL1
    protein p14 TCL1

    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_001098725.2NP_001092195.1  T-cell leukemia/lymphoma protein 1A

      See identical proteins and their annotated locations for NP_001092195.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site in the 3' UTR, compared to variant 1. Variants 1 and 2 encode the same protein.
      Source sequence(s)
      AL139020, BC014024, BG718395, X82240
      Consensus CDS
      CCDS9941.1
      UniProtKB/Swiss-Prot
      P56279, Q6IBK7
      Related
      ENSP00000451506.1, ENST00000554012.5
      Conserved Domains (1) summary
      pfam01840
      Location:1112
      TCL1_MTCP1; TCL1/MTCP1 family
    2. NM_021966.3NP_068801.1  T-cell leukemia/lymphoma protein 1A

      See identical proteins and their annotated locations for NP_068801.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) and variant 2 encode the same protein.
      Source sequence(s)
      AL139020, BC014024, BG718395, X82240
      Consensus CDS
      CCDS9941.1
      UniProtKB/Swiss-Prot
      P56279, Q6IBK7
      Related
      ENSP00000385036.1, ENST00000402399.6
      Conserved Domains (1) summary
      pfam01840
      Location:1112
      TCL1_MTCP1; TCL1/MTCP1 family

    RNA

    1. NR_049726.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) includes an alternate internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AL139020, BU602054, X82240

    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_000014.9 Reference GRCh38.p14 Primary Assembly

      Range
      95709947..95714125 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      89941532..89945710 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)