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

    Gene ID: 6886, updated on 3-Dec-2024

    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
    NEW
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    Genomic context

    See TAL1 in Genome Data Viewer
    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_000001.11Genomic Context describing neighboring genes Neighboring gene CYP4A22 antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:47644793-47645294 Neighboring gene GATA motif-containing MPRA enhancer 229 Neighboring gene Sharpr-MPRA regulatory region 12212 Neighboring gene long intergenic non-protein coding RNA 853 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:47657113-47658062 Neighboring gene PDZK1 interacting protein 1 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr1:47673792-47674378 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:47694003-47694964 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:47694965-47695926 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr1:47696119-47697092 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:47697093-47698066 Neighboring gene STIL centriolar assembly protein Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:47772177-47772742 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:47779829-47780558 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:47799401-47800204 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:47800205-47801008 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

    EBI GWAS Catalog

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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    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

    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
      D3DQ24, 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
      D3DQ24, P17542
      UniProtKB/TrEMBL
      Q16509
      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
      D3DQ24, P17542
      UniProtKB/TrEMBL
      Q16509
      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
      D3DQ24, P17542
      UniProtKB/TrEMBL
      Q16509
      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
      D3DQ24, P17542
      UniProtKB/TrEMBL
      Q16509
      Conserved Domains (1) summary
      smart00353
      Location:193243
      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

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      47216290..47232335 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017002191.2XP_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:193243
      HLH; helix loop helix domain
    2. XM_047429046.1XP_047285002.1  T-cell acute lymphocytic leukemia protein 1 isoform X1

      UniProtKB/TrEMBL
      Q16509
    3. XM_047429045.1XP_047285001.1  T-cell acute lymphocytic leukemia protein 1 isoform X1

      UniProtKB/TrEMBL
      Q16509
    4. XM_047429047.1XP_047285003.1  T-cell acute lymphocytic leukemia protein 1 isoform X3

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      47094699..47110742 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

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

      UniProtKB/Swiss-Prot
      D3DQ24, P17542
      UniProtKB/TrEMBL
      Q16509
    2. XM_054338495.1XP_054194470.1  T-cell acute lymphocytic leukemia protein 1 isoform X1

      UniProtKB/TrEMBL
      Q16509
    3. XM_054338494.1XP_054194469.1  T-cell acute lymphocytic leukemia protein 1 isoform X1

      UniProtKB/TrEMBL
      Q16509
    4. XM_054338497.1XP_054194472.1  T-cell acute lymphocytic leukemia protein 1 isoform X3