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TCL1A T cell leukemia/lymphoma 1A [ Homo sapiens (human) ]

Gene ID: 8115, updated on 9-Dec-2018

Summary

Official Symbol
TCL1Aprovided by HGNC
Official Full Name
T cell leukemia/lymphoma 1Aprovided by HGNC
Primary source
HGNC:HGNC:11648
See related
Ensembl:ENSG00000100721 MIM:186960
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

Genomic context

See TCL1A in Genome Data Viewer
Location:
14q32.13
Exon count:
6
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 14 NC_000014.9 (95694160..95714196, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (96176304..96180533, complement)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene T cell leukemia/lymphoma 6 Neighboring gene T cell leukemia/lymphoma 1B Neighboring gene uncharacterized LOC107984703 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 FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

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

Pathways from BioSystems

  • PI3K-Akt signaling pathway, organism-specific biosystem (from KEGG)
    PI3K-Akt signaling pathway, organism-specific biosystemThe phosphatidylinositol 3' -kinase(PI3K)-Akt signaling pathway is activated by many types of cellular stimuli or toxic insults and regulates fundamental cellular functions such as transcription, tra...
  • PI3K-Akt signaling pathway, conserved biosystem (from KEGG)
    PI3K-Akt signaling pathway, conserved biosystemThe phosphatidylinositol 3' -kinase(PI3K)-Akt signaling pathway is activated by many types of cellular stimuli or toxic insults and regulates fundamental cellular functions such as transcription, tra...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
identical protein binding IDA
Inferred from Direct Assay
more info
PubMed 
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein kinase binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein kinase binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein serine/threonine kinase activator activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein serine/threonine kinase activator activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
endoplasmic reticulum IEA
Inferred from Electronic Annotation
more info
 
nucleus IEA
Inferred from Electronic Annotation
more info
 
protein-containing complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein-containing complex IMP
Inferred from Mutant Phenotype
more info
PubMed 

General protein information

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

NCBI Reference Sequences (RefSeq)

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_001098725.1NP_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
    UniProtKB/TrEMBL
    A0A024R6G5
    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
    UniProtKB/TrEMBL
    A0A024R6G5
    Related
    ENSP00000385036.1, ENST00000402399.5
    Conserved Domains (1) summary
    pfam01840
    Location:1112
    TCL1_MTCP1; TCL1/MTCP1 family

RNA

  1. NR_049726.1 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, BG718395, BU602054, X82240

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p12 Primary Assembly

    Range
    95694160..95714196 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017021676.2XP_016877165.1  T-cell leukemia/lymphoma protein 1A isoform X1

    UniProtKB/Swiss-Prot
    P56279
    UniProtKB/TrEMBL
    A0A024R6G5
    Conserved Domains (1) summary
    pfam01840
    Location:1112
    TCL1_MTCP1; TCL1/MTCP1 family
  2. XM_017021677.2XP_016877166.1  T-cell leukemia/lymphoma protein 1A isoform X1

    UniProtKB/Swiss-Prot
    P56279
    UniProtKB/TrEMBL
    A0A024R6G5
    Related
    ENSP00000450496.1, ENST00000555202.1
    Conserved Domains (1) summary
    pfam01840
    Location:1112
    TCL1_MTCP1; TCL1/MTCP1 family
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