TLX1 T cell leukemia homeobox 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: TLX1provided by HGNC
Official Full Name: T cell leukemia homeobox 1provided by HGNC
Primary source: HGNC:HGNC:5056
See related: Ensembl:ENSG00000107807 MIM:186770; AllianceGenome:HGNC:5056
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: TCL3; HOX11
Summary: This gene encodes a nuclear transcription factor that belongs to the NK-linked or NK-like (NKL) subfamily of homeobox genes. The encoded protein is required for normal development of the spleen during embryogenesis. This protein is also involved in specification of neuronal cell fates. Ectopic expression of this gene due to chromosomal translocations is associated with certain T-cell acute lymphoblastic leukemias. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2010]
Expression: Biased expression in spleen (RPKM 14.4) and salivary gland (RPKM 3.2) See more
Orthologs: mouse all
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Genomic context

Location:: 10q24.31

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	10	NC_000010.11 (101131300..101137789)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	10	NC_060934.1 (102014685..102021174)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	10	NC_000010.10 (102891057..102897546)

Chromosome 10 - NC_000010.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

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Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Association of TLX1 gene polymorphisms with the risk of acute lymphoblastic leukemia and B lineage acute lymphoblastic leukemia in Han Chinese children.
Title: Association of TLX1 gene polymorphisms with the risk of acute lymphoblastic leukemia and B lineage acute lymphoblastic leukemia in Han Chinese children.
Data show that among all long non-coding RNAs (lncRNAs), 82 are differentially regulated upon T cell leukemia homeobox 1 protein (TLX1) knockdown, of which 30 are directly bound by TLX1.
Title: A comprehensive inventory of TLX1 controlled long non-coding RNAs in T-cell acute lymphoblastic leukemia through polyA+ and total RNA sequencing.
oncogenic kinase NUP214-ABL1, through its downstream effector STAT5, directly cooperates with TLX1 at the transcriptional level.
Title: Cooperative Enhancer Activation by TLX1 and STAT5 Drives Development of NUP214-ABL1/TLX1-Positive T Cell Acute Lymphoblastic Leukemia.
High TLX1 expression is associated with castration-resistant prostate cancer.
Title: Orphan nuclear receptor TLX contributes to androgen insensitivity in castration-resistant prostate cancer via its repression of androgen receptor transcription.
Our data suggest that loss of DLX5, TLX1 and HOXA10 expression in late gestation is required for proper placental differentiation and function.
Title: Increased methylation and decreased expression of homeobox genes TLX1, HOXA10 and DLX5 in human placenta are associated with trophoblast differentiation.
TLX1 hypermethylation is associated with colorectal cancer.
Title: Genome-wide methylation analysis identifies a core set of hypermethylated genes in CIMP-H colorectal cancer.
The occurrence of G-quadruplex structures at the HOX11 breakpoint region explain its fragility during the t(10;14) translocation.
Title: G-quadruplex structures formed at the HOX11 breakpoint region contribute to its fragility during t(10;14) translocation in T-cell leukemia.
these results place TLX1 and TLX3 at the top of an oncogenic transcriptional network controlling leukemia development, and identify RUNX1 as a tumor-suppressor gene in T-ALL
Title: Reverse engineering of TLX oncogenic transcriptional networks identifies RUNX1 as tumor suppressor in T-ALL.
The cortical thymic maturation arrest in T-lineage Acute lymphoblastic leukemias (ALLs) that overexpress TLX1 or TLX3 is due to binding of TLX1/TLX3 to ETS1.
Title: TLX homeodomain oncogenes mediate T cell maturation arrest in T-ALL via interaction with ETS1 and suppression of TCRα gene expression.
Suppression of TLX1 expression slowed the growth of TLX1 tumor cell lines. Suppression of TLX1 in vivo also transiently delayed leukemia progression.
Title: Transient responses to NOTCH and TLX1/HOX11 inhibition in T-cell acute lymphoblastic leukemia/lymphoma.

Submit: New GeneRIF Correction See all GeneRIFs (29)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Tlx1 (e-PCR), detects polymorphism
- UniSTS:274200

GDB:193866 (e-PCR)
- UniSTS:155774

RH17718 (e-PCR)
- UniSTS:28358

D10S2182 (e-PCR)
- UniSTS:15576

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IEA Inferred from Electronic Annotation more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	ISA Inferred from Sequence Alignment more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in animal organ development	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of transcription by RNA polymerase II	IEA Inferred from Electronic Annotation more info
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in chromatin	ISA Inferred from Sequence Alignment more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: T-cell leukemia homeobox protein 1

Names: T-cell leukemia/lymphoma protein 3; homeo box-11 (T-cell leukemia-3 associated breakpoint, homologous to Drosophila Notch); homeobox protein Hox-11; proto-oncogene TCL-3

NCBI Reference Sequences (RefSeq)

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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.

Genomic

NG_027826.1 RefSeqGene

Range

4997..11486

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001195517.2 → NP_001182446.1 T-cell leukemia homeobox protein 1 isoform 2

See identical proteins and their annotated locations for NP_001182446.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses an alternate splice site in the 3' coding region, compared to variant 1. It encodes isoform 2, which has a shorter C-terminus, compared to isoform 1.

Source sequence(s)

AL357395, BC130530, BF514683

Consensus CDS

CCDS55725.1

UniProtKB/Swiss-Prot

P31314

Related

ENSP00000434914.2, ENST00000467928.2

Conserved Domains (1) summary

pfam00046
Location:204 → 257

Homeobox; Homeobox domain
NM_005521.4 → NP_005512.1 T-cell leukemia homeobox protein 1 isoform 1

See identical proteins and their annotated locations for NP_005512.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longest isoform (1).

Source sequence(s)

AL357395, BC130530, BF514683, M62626, S38742

Consensus CDS

CCDS7510.1

UniProtKB/Swiss-Prot

A1L4G3, O75699, P31314, Q5VXP2, Q9HCA0, Q9UD59

Related

ENSP00000359215.6, ENST00000370196.11

Conserved Domains (1) summary

pfam00046
Location:204 → 257

Homeobox; Homeobox domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000010.11 Reference GRCh38.p14 Primary Assembly

Range

101131300..101137789

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011539744.4 → XP_011538046.1 T-cell leukemia homeobox protein 1 isoform X1

Conserved Domains (1) summary

pfam00046
Location:216 → 269

Homeobox; Homeobox domain