TAL1 TAL bHLH transcription factor 1, erythroid differentiation factor [Homo sapiens (human)] - Gene

Summary

Official Symbol: TAL1provided by HGNC
Official Full Name: TAL bHLH transcription factor 1, erythroid differentiation factorprovided by HGNC
Primary source: HGNC:HGNC:11556
See related: Ensembl:ENSG00000162367 MIM:187040; AllianceGenome:HGNC:11556
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: SCL; TCL5; tal-1; bHLHa17
Summary: Enables several functions, including E-box binding activity; RNA polymerase II-specific DNA-binding transcription factor binding activity; and histone deacetylase binding activity. Involved in several processes, including myeloid cell differentiation; positive regulation of cellular component organization; and positive regulation of erythrocyte differentiation. Located in chromatin and nucleoplasm. Part of transcription regulator complex. Implicated in acute lymphoblastic leukemia. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Broad expression in bone marrow (RPKM 7.9), fat (RPKM 4.0) and 18 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1p33

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (47216290..47232335, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (47094699..47110742, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (47681962..47698007, complement)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Suppression of super-enhancer-driven TAL1 expression by KLF4 in T-cell acute lymphoblastic leukemia.
Title: Suppression of super-enhancer-driven TAL1 expression by KLF4 in T-cell acute lymphoblastic leukemia.
TAL1 activation in T-cell acute lymphoblastic leukemia: a novel oncogenic 3' neo-enhancer.
Title: TAL1 activation in T-cell acute lymphoblastic leukemia: a novel oncogenic 3' neo-enhancer.
Disruption of a GATA2-TAL1-ERG regulatory circuit promotes erythroid transition in healthy and leukemic stem cells.
Title: Disruption of a GATA2-TAL1-ERG regulatory circuit promotes erythroid transition in healthy and leukemic stem cells.
Integrative network analysis reveals USP7 haploinsufficiency inhibits E-protein activity in pediatric T-lineage acute lymphoblastic leukemia (T-ALL).
Title: Integrative network analysis reveals USP7 haploinsufficiency inhibits E-protein activity in pediatric T-lineage acute lymphoblastic leukemia (T-ALL).
MiR-7 Functions as a Tumor Suppressor by Targeting the Oncogenes TAL1 in T-Cell Acute Lymphoblastic Leukemia.
Title: MiR-7 Functions as a Tumor Suppressor by Targeting the Oncogenes TAL1 in T-Cell Acute Lymphoblastic Leukemia.
SIX6 is a TAL1-regulated transcription factor in T-ALL and associated with inferior outcome.
Title: SIX6 is a TAL1-regulated transcription factor in T-ALL and associated with inferior outcome.
Dengue virus infection impedes megakaryopoiesis in MEG-01 cells where the virus envelope protein interacts with the transcription factor TAL-1.
Title: Dengue virus infection impedes megakaryopoiesis in MEG-01 cells where the virus envelope protein interacts with the transcription factor TAL-1.
The transcription factor TAL1 and miR-17-92 create a regulatory loop in hematopoiesis.
Title: The transcription factor TAL1 and miR-17-92 create a regulatory loop in hematopoiesis.
The transcription factor NFE2 enhances expression of the hematopoietic master regulators SCL/TAL1 and GATA2.
Title: The transcription factor NFE2 enhances expression of the hematopoietic master regulators SCL/TAL1 and GATA2.
among the many factors wired within this complex regulatory network, ETV2, SCL and RUNX1 are the central components. All three factors are absolutely required for blood cell generation, each one controlling a precise step of specification from the mesoderm germ layer to fully functional blood progenitors
Title: Transcriptional control of blood cell emergence.

Submit: New GeneRIF Correction See all GeneRIFs (90)

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

Associated conditions

Description	Tests
Acute lymphoid leukemia MedGen: C0023449 OMIM: 613065 GeneReviews: Not available	not available

EBI GWAS Catalog

Description
Clozapine-induced agranulocytosis is associated with rare HLA-DQB1 and HLA-B alleles. EBI GWAS Catalog EBI GWAS CatalogPubMed

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

RH65838 (e-PCR)
- UniSTS:73219

SHGC-74795 (e-PCR)
- UniSTS:80905

D1S3714 (e-PCR)
- UniSTS:50964

G15927 (e-PCR)
- UniSTS:50965

SGC35290 (e-PCR)
- UniSTS:59244

NoName (e-PCR)
- UniSTS:481932

NoName (e-PCR)
- UniSTS:494808

SHGC-74785 (e-PCR)
- UniSTS:53477

KS609 (e-PCR)
- UniSTS:253180

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA-binding transcription factor activity	IDA Inferred from Direct Assay more info	PubMed
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 E-box binding	IDA Inferred from Direct Assay more info	PubMed
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables RNA polymerase II-specific DNA-binding transcription factor binding	IPI Inferred from Physical Interaction more info	PubMed
enables chromatin binding	IDA Inferred from Direct Assay more info	PubMed
enables enzyme binding	IPI Inferred from Physical Interaction more info	PubMed
enables histone deacetylase binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein dimerization activity	IEA Inferred from Electronic Annotation more info
enables transcription cis-regulatory region binding	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in angiogenesis	IEA Inferred from Electronic Annotation more info
involved_in astrocyte fate commitment	IEA Inferred from Electronic Annotation more info
involved_in basophil differentiation	IEP Inferred from Expression Pattern more info	PubMed
involved_in cell fate commitment	ISS Inferred from Sequence or Structural Similarity more info
involved_in definitive hemopoiesis	IEA Inferred from Electronic Annotation more info
involved_in embryonic hemopoiesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in erythrocyte differentiation	IEP Inferred from Expression Pattern more info	PubMed
involved_in erythrocyte differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in erythrocyte maturation	IEA Inferred from Electronic Annotation more info
involved_in hemangioblast cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in hematopoietic stem cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in hemopoiesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in locomotory behavior	IEA Inferred from Electronic Annotation more info
involved_in megakaryocyte development	IEA Inferred from Electronic Annotation more info
involved_in megakaryocyte differentiation	IEP Inferred from Expression Pattern more info	PubMed
involved_in negative regulation of transcription by RNA polymerase II	IEA Inferred from Electronic Annotation more info
involved_in platelet formation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of cell division	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of chromatin organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of erythrocyte differentiation	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of erythrocyte differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of mitotic cell cycle	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of protein-containing complex assembly	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of cell population proliferation	IEA Inferred from Electronic Annotation more info
involved_in regulation of mast cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in regulation of somatic stem cell population maintenance	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
involved_in regulation of transcription by RNA polymerase II	ISS Inferred from Sequence or Structural Similarity more info
involved_in spinal cord association neuron differentiation	IEA Inferred from Electronic Annotation more info
involved_in transcription by RNA polymerase II	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in chromatin	IDA Inferred from Direct Assay more info	PubMed
located_in chromatin	ISA Inferred from Sequence Alignment more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleoplasm	TAS Traceable Author Statement more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
part_of transcription regulator complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: T-cell acute lymphocytic leukemia protein 1

Names: T-cell acute lymphocytic leukemia 1; T-cell leukemia/lymphoma protein 5; class A basic helix-loop-helix protein 17; stem cell protein; tal-1 product

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.

mRNA and Protein(s)

NM_001287347.2 → NP_001274276.1 T-cell acute lymphocytic leukemia protein 1 isoform 1

See identical proteins and their annotated locations for NP_001274276.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Variants 1, 2, 3, 4 and 5 encode the same isoform 1.

Source sequence(s)

AL135960, BQ186967, KF495937, S53245

Consensus CDS

CCDS547.1

UniProtKB/Swiss-Prot

D3DQ24, P17542

UniProtKB/TrEMBL

Q16509

Related

ENSP00000360951.1, ENST00000371884.6

Conserved Domains (1) summary

smart00353
Location:193 → 243

HLH; helix loop helix domain
NM_001290403.2 → NP_001277332.1 T-cell acute lymphocytic leukemia protein 1 isoform 1

See identical proteins and their annotated locations for NP_001277332.1

Status: VALIDATED

Description

Transcript Variant: This variant (3) lacks an internal exon in the 5' UTR, compared to variant 1. Variants 1, 2, 3, 4 and 5 encode the same isoform 1.

Source sequence(s)

AL135960, KF495937

Consensus CDS

CCDS547.1

UniProtKB/Swiss-Prot

D3DQ24, P17542

UniProtKB/TrEMBL

Q16509

Related

ENSP00000510655.1, ENST00000691006.1

Conserved Domains (1) summary

smart00353
Location:193 → 243

HLH; helix loop helix domain
NM_001290404.1 → NP_001277333.1 T-cell acute lymphocytic leukemia protein 1 isoform 1

See identical proteins and their annotated locations for NP_001277333.1

Status: VALIDATED

Description

Transcript Variant: This variant (4) differs in the 5' UTR, compared to variant 1. Variants 1, 2, 3, 4 and 5 encode the same isoform 1.

Source sequence(s)

AL135960, BQ186967, M61108

Consensus CDS

CCDS547.1

UniProtKB/Swiss-Prot

D3DQ24, P17542

UniProtKB/TrEMBL

Q16509

Conserved Domains (1) summary

smart00353
Location:193 → 243

HLH; helix loop helix domain
NM_001290405.1 → NP_001277334.1 T-cell acute lymphocytic leukemia protein 1 isoform 1

See identical proteins and their annotated locations for NP_001277334.1

Status: VALIDATED

Description

Transcript Variant: This variant (5) differs in the 5' UTR, compared to variant 1. Variants 1, 2, 3, 4 and 5 encode the same isoform 1.

Source sequence(s)

AL135960, BQ186967, M61108

Consensus CDS

CCDS547.1

UniProtKB/Swiss-Prot

D3DQ24, P17542

UniProtKB/TrEMBL

Q16509

Related

ENSP00000294339.3, ENST00000294339.3

Conserved Domains (1) summary

smart00353
Location:193 → 243

HLH; helix loop helix domain
NM_001290406.2 → NP_001277335.1 T-cell acute lymphocytic leukemia protein 1 isoform 2

See identical proteins and their annotated locations for NP_001277335.1

Status: VALIDATED

Description

Transcript Variant: This variant (6) lacks three consecutive internal exons in the 5' region and uses a downstream translation start codon, compared to variant 1. The resulting isoform (2) has a shorter N-terminus, compared to isoform 1.

Source sequence(s)

AL135960, BQ186967, M61108, S53678

UniProtKB/Swiss-Prot

P17542

Conserved Domains (1) summary

smart00353
Location:34 → 84

HLH; helix loop helix domain
NM_003189.5 → NP_003180.1 T-cell acute lymphocytic leukemia protein 1 isoform 1

See identical proteins and their annotated locations for NP_003180.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1). Variants 1, 2, 3, 4 and 5 encode the same isoform 1.

Source sequence(s)

AL135960, BQ186967, M61108

Consensus CDS

CCDS547.1

UniProtKB/Swiss-Prot

D3DQ24, P17542

UniProtKB/TrEMBL

Q16509

Conserved Domains (1) summary

smart00353
Location:193 → 243

HLH; helix loop helix 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_000001.11 Reference GRCh38.p14 Primary Assembly

Range

47216290..47232335 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017002191.2 → XP_016857680.1 T-cell acute lymphocytic leukemia protein 1 isoform X2

UniProtKB/Swiss-Prot

D3DQ24, P17542

UniProtKB/TrEMBL

Q16509

Conserved Domains (1) summary

smart00353
Location:193 → 243

HLH; helix loop helix domain
XM_047429046.1 → XP_047285002.1 T-cell acute lymphocytic leukemia protein 1 isoform X1
XM_047429045.1 → XP_047285001.1 T-cell acute lymphocytic leukemia protein 1 isoform X1
XM_047429047.1 → XP_047285003.1 T-cell acute lymphocytic leukemia protein 1 isoform X3

Alternate T2T-CHM13v2.0

Genomic

NC_060925.1 Alternate T2T-CHM13v2.0

Range

47094699..47110742 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054338496.1 → XP_054194471.1 T-cell acute lymphocytic leukemia protein 1 isoform X2

UniProtKB/Swiss-Prot

D3DQ24, P17542
XM_054338495.1 → XP_054194470.1 T-cell acute lymphocytic leukemia protein 1 isoform X1
XM_054338494.1 → XP_054194469.1 T-cell acute lymphocytic leukemia protein 1 isoform X1
XM_054338497.1 → XP_054194472.1 T-cell acute lymphocytic leukemia protein 1 isoform X3