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

Gene ID: 6886, updated on 5-Jan-2022

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
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 DNA-binding transcription factor activity; E-box 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 2021]
Expression
Broad expression in bone marrow (RPKM 7.9), fat (RPKM 4.0) and 18 other tissues See more
Orthologs
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Genomic context

See TAL1 in Genome Data Viewer
Location:
1p33
Exon count:
9
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (47216290..47232389, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (47681962..47698007, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 12212 Neighboring gene PDZK1 interacting protein 1 Neighboring gene STIL centriolar assembly protein Neighboring gene cytidine/uridine monophosphate kinase 1

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

Associated conditions

Description Tests
Acute lymphoid leukemia
MedGen: C0023449 OMIM: 613065 GeneReviews: Not available
Compare labs
Clozapine-induced agranulocytosis is associated with rare HLA-DQB1 and HLA-B alleles.
GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in activation of transmembrane receptor protein tyrosine kinase activity IEA
Inferred from Electronic Annotation
more info
 
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 cell division IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of chromatin assembly or disassembly 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 positive regulation of transcription, DNA-templated 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 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
PubMed 
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

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)

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_001287347.2NP_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
    P17542
    UniProtKB/TrEMBL
    Q16509
    Related
    ENSP00000360951.1, ENST00000371884.6
    Conserved Domains (1) summary
    smart00353
    Location:193243
    HLH; helix loop helix domain
  2. NM_001290403.2NP_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
    P17542
    Related
    ENSP00000510655.1, ENST00000691006.1
    Conserved Domains (1) summary
    smart00353
    Location:193243
    HLH; helix loop helix domain
  3. NM_001290404.1NP_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
    P17542
    Conserved Domains (1) summary
    smart00353
    Location:193243
    HLH; helix loop helix domain
  4. NM_001290405.1NP_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
    P17542
    Related
    ENSP00000294339.3, ENST00000294339.3
    Conserved Domains (1) summary
    smart00353
    Location:193243
    HLH; helix loop helix domain
  5. NM_001290406.2NP_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:3484
    HLH; helix loop helix domain
  6. NM_003189.5NP_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
    P17542
    Conserved Domains (1) summary
    smart00353
    Location:193243
    HLH; helix loop helix domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    47216290..47232389 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017002189.1XP_016857678.1  T-cell acute lymphocytic leukemia protein 1 isoform X1

    UniProtKB/Swiss-Prot
    P17542
    Conserved Domains (1) summary
    smart00353
    Location:193243
    HLH; helix loop helix domain
  2. XM_017002193.1XP_016857682.1  T-cell acute lymphocytic leukemia protein 1 isoform X3

    Conserved Domains (1) summary
    smart00353
    Location:3484
    HLH; helix loop helix domain
  3. XM_017002191.1XP_016857680.1  T-cell acute lymphocytic leukemia protein 1 isoform X1

    UniProtKB/Swiss-Prot
    P17542
    Conserved Domains (1) summary
    smart00353
    Location:193243
    HLH; helix loop helix domain
  4. XM_017002190.1XP_016857679.1  T-cell acute lymphocytic leukemia protein 1 isoform X1

    UniProtKB/Swiss-Prot
    P17542
    Conserved Domains (1) summary
    smart00353
    Location:193243
    HLH; helix loop helix domain
  5. XM_017002188.1XP_016857677.1  T-cell acute lymphocytic leukemia protein 1 isoform X1

    UniProtKB/Swiss-Prot
    P17542
    Conserved Domains (1) summary
    smart00353
    Location:193243
    HLH; helix loop helix domain
  6. XM_017002187.1XP_016857676.1  T-cell acute lymphocytic leukemia protein 1 isoform X1

    UniProtKB/Swiss-Prot
    P17542
    Conserved Domains (1) summary
    smart00353
    Location:193243
    HLH; helix loop helix domain
  7. XM_005271160.4XP_005271217.1  T-cell acute lymphocytic leukemia protein 1 isoform X1

    See identical proteins and their annotated locations for XP_005271217.1

    UniProtKB/Swiss-Prot
    P17542
    Conserved Domains (1) summary
    smart00353
    Location:193243
    HLH; helix loop helix domain
  8. XM_017002192.1XP_016857681.1  T-cell acute lymphocytic leukemia protein 1 isoform X2

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