TCL1A T-cell leukemia/lymphoma 1A [Homo sapiens] - Gene

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Summary

Official Symbol: TCL1Aprovided by HGNC
Official Full Name: T-cell leukemia/lymphoma 1Aprovided by HGNC
Primary source: HGNC:11648
See related: Ensembl:ENSG00000100721; HPRD:01744; MIM:186960; Vega:OTTHUMG00000171390
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]

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Genomic context

Location :: 14q32.1

Sequence :: Chromosome: 14; NC_000014.8 (96176304..96180533, complement)

See TCL1A in Epigenomics, MapViewer

Chromosome 14 - NC_000014.8 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

CLL samples with high Tcl1 expression showed a decrease in DNA methylation compared with CLL samples with low Tcl1 expression
Title: Tcl1 protein functions as an inhibitor of de novo DNA methylation in B-cell chronic lymphocytic leukemia (CLL).
Using primary chronic lymphocytic leukemia cells we have shown an inverse relationship between TCL1 and PTPROt expression.
Title: AP-1 elements and TCL1 protein regulate expression of the gene encoding protein tyrosine phosphatase PTPROt in leukemia.
Data indicate an inverse correlation between miR-16-1, miR-181a, miR-181b, and level of expression of TCL-1 and BCL-2, which suggest that these miRNAs may implicate in negatively regulating target mRNA at transcriptional level.
Title: Aberrant microRNA expression in Chinese patients with chronic lymphocytic leukemia.
This study identified 4 single nucleotide polymorphisms related to TCL1A that, when present, were associated with musculoskeletal adverse effects to anastrozole or exemestane treatment in postmenopausal women with stage I to III breast cancer.
Title: Genome-wide case-control study of musculoskeletal adverse events and functional genomics in women receiving aromatase inhibitors: going beyond associations.
Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
Title: Genome-wide associations and functional genomic studies of musculoskeletal adverse events in women receiving aromatase inhibitors.
TCL1 is a diagnostic marker for intratubular germ cell neoplasia and classic seminoma.
Title: TCL1 is a diagnostic marker for intratubular germ cell neoplasia and classic seminoma.
TCL1 positivity was predominantly found in germinal center phenotype diffuse large B-cell lymphoma.
Title: T-cell leukemia 1 expression in nodal Epstein-Barr virus-negative diffuse large B-cell lymphoma and primary mediastinal B-cell lymphoma.
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.
CD5+CD23+ leukemic cell populations in TCL1 transgenic mice show significantly increased proliferation and Akt phosphorylation.
Title: CD5+CD23+ leukemic cell populations in TCL1 transgenic mice show significantly increased proliferation and Akt phosphorylation.
Immunohistochemical evaluation of TCL1 expression may be useful for substantiating a diagnosis of unclassified type of intratubular germ cell neoplasia or seminoma.
Title: TCL1 protein expression in testicular germ cell tumors.

Submit: New GeneRIF Correction See all (37)

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

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

Genome-wide case-control study of musculoskeletal adverse events and functional genomics in women receiving aromatase inhibitors: going beyond associations.

Products	Interactant	Other Gene	Source	Pubs	Description
NP_068801.1	NP_005154.1	AKT1	BIND	PubMed	TCL1 interacts with AKT1.
NP_068801.1	NP_001617.1	AKT2	BIND	PubMed	TCL1 interacts with AKT2
NP_068801.1	NP_005456.1	AKT3	BIND	PubMed	TCL1 interacts with Akt3.
P56279	P31749	AKT1	HPRD	PubMed
P56279	P31751	AKT2	HPRD	PubMed
P56279	Q9Y243	AKT3	HPRD	PubMed
P56279	NDP52	CALCOCO2	HPRD	PubMed
P56279	Q7L7L0	HIST3H2A	HPRD	PubMed
BioGRID:113783	BioGRID:106710	AKT1	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:113783	BioGRID:106711	AKT2	BioGRID	PubMed	Affinity Capture-Western; Two-hybrid
BioGRID:113783	BioGRID:115318	AKT3	BioGRID	PubMed	Affinity Capture-Western
BioGRID:113783	BioGRID:106962	ATM	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:113783	BioGRID:115535	CALCOCO2	BioGRID	PubMed	Two-hybrid
BioGRID:113783	BioGRID:124981	HIST3H2A	BioGRID	PubMed	Two-hybrid
BioGRID:113783	BioGRID:113783	TCL1A	BioGRID	PubMed	Affinity Capture-Western

Function	Evidence Code	Pubs
protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
multicellular organismal development	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
cytoplasm	IEA Inferred from Electronic Annotation more info
endoplasmic reticulum	IEA Inferred from Electronic Annotation more info
microsome	IEA Inferred from Electronic Annotation more info
nucleus	IEA Inferred from Electronic Annotation more info

General protein information

Preferred Names: T-cell leukemia/lymphoma protein 1A

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

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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)

NM_001098725.1 → NP_001092195.1 T-cell leukemia/lymphoma protein 1A

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

Related

ENSP00000451506, OTTHUMP00000245945, ENST00000554012, OTTHUMT00000413245

Conserved Domains (1) summary

pfam01840
Location:1 – 113
Blast Score: 322

TCL1_MTCP1; TCL1/MTCP1 family
NM_021966.2 → NP_068801.1 T-cell leukemia/lymphoma protein 1A

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

Related

ENSP00000385036, ENST00000402399

Conserved Domains (1) summary

pfam01840
Location:1 – 113
Blast Score: 322

TCL1_MTCP1; TCL1/MTCP1 family

RNA

NR_049726.1 RNA Sequence

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: Build 37.3

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

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000014.8 Reference GRCh37.p5 Primary Assembly

Range

96176304..96180533, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000146.1 Alternate HuRef

Range

76361876..76366105, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AL139020.5 (46570..50714)	None
genomic	CH471061.1	EAW81622.1
		EAW81623.1
genomic	X82241.1	None
mRNA	BC003574.1	AAH03574.1
mRNA	BC005831.2	AAH05831.1
mRNA	BC009502.2	None
mRNA	BC009891.2	None
mRNA	BC014024.1	AAH14024.1
mRNA	BG718395.1	None
mRNA	CR456796.1	CAG33077.1
mRNA	X82240.1	CAA57708.1
other-genetic	DQ892500.2	ABM83426.1
other-genetic	DQ895713.2	ABM86639.1