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

Gene ID: 6886, updated on 3-Jun-2018
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; Vega:OTTHUMG00000007847
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
Expression
Broad expression in bone marrow (RPKM 7.9), fat (RPKM 4.0) and 18 other tissues See more
Orthologs
See TAL1 in Genome Data Viewer
Location:
1p33
Exon count:
8
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 1 NC_000001.11 (47216290..47232389, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (47681962..47697938, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene GATA motif-containing MPRA enhancer 229 Neighboring gene PDZK1 interacting protein 1 Neighboring gene STIL, centriolar assembly protein Neighboring gene cytidine/uridine monophosphate kinase 1

  • 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 Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Acute lymphoid leukemia
MedGen: C0023449 OMIM: 613065 GeneReviews: Not available
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NHGRI GWAS Catalog

Description
Clozapine-induced agranulocytosis is associated with rare HLA-DQB1 and HLA-B alleles.
NHGRI GWA Catalog
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA-binding transcription factor activity IDA
Inferred from Direct Assay
more info
PubMed 
E-box binding IDA
Inferred from Direct Assay
more info
PubMed 
RNA polymerase II distal enhancer sequence-specific DNA binding IEA
Inferred from Electronic Annotation
more info
 
RNA polymerase II regulatory region sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
RNA polymerase II transcription factor activity, sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
RNA polymerase II transcription factor activity, sequence-specific DNA binding ISA
Inferred from Sequence Alignment
more info
 
RNA polymerase II transcription factor activity, sequence-specific DNA binding ISM
Inferred from Sequence Model
more info
PubMed 
RNA polymerase II transcription factor binding IPI
Inferred from Physical Interaction
more info
PubMed 
chromatin binding IDA
Inferred from Direct Assay
more info
PubMed 
enzyme binding IPI
Inferred from Physical Interaction
more info
PubMed 
histone deacetylase binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein heterodimerization activity IEA
Inferred from Electronic Annotation
more info
 
transcription regulatory region DNA binding ISS
Inferred from Sequence or Structural Similarity
more info
 
Process Evidence Code Pubs
angiogenesis IEA
Inferred from Electronic Annotation
more info
 
astrocyte fate commitment IEA
Inferred from Electronic Annotation
more info
 
basophil differentiation IEP
Inferred from Expression Pattern
more info
PubMed 
cell fate commitment ISS
Inferred from Sequence or Structural Similarity
more info
 
definitive hemopoiesis IEA
Inferred from Electronic Annotation
more info
 
embryonic hemopoiesis ISS
Inferred from Sequence or Structural Similarity
more info
 
erythrocyte differentiation IEP
Inferred from Expression Pattern
more info
PubMed 
erythrocyte differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
erythrocyte maturation IEA
Inferred from Electronic Annotation
more info
 
hemangioblast cell differentiation IEA
Inferred from Electronic Annotation
more info
 
hematopoietic stem cell differentiation IEA
Inferred from Electronic Annotation
more info
 
hemopoiesis ISS
Inferred from Sequence or Structural Similarity
more info
 
locomotory behavior IEA
Inferred from Electronic Annotation
more info
 
megakaryocyte development IEA
Inferred from Electronic Annotation
more info
 
megakaryocyte differentiation IEP
Inferred from Expression Pattern
more info
PubMed 
negative regulation of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
 
platelet formation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of cell division IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of chromatin assembly or disassembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of erythrocyte differentiation IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of erythrocyte differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of mitotic cell cycle IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of protein complex assembly IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of transcription, DNA-templated IDA
Inferred from Direct Assay
more info
PubMed 
regulation of cell proliferation IEA
Inferred from Electronic Annotation
more info
 
regulation of hematopoietic stem cell differentiation TAS
Traceable Author Statement
more info
 
regulation of mast cell differentiation IEA
Inferred from Electronic Annotation
more info
 
regulation of stem cell population maintenance IEA
Inferred from Electronic Annotation
more info
 
regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of transcription by RNA polymerase II ISS
Inferred from Sequence or Structural Similarity
more info
 
spinal cord association neuron differentiation IEA
Inferred from Electronic Annotation
more info
 
transcription, DNA-templated IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
colocalizes_with Lsd1/2 complex IDA
Inferred from Direct Assay
more info
PubMed 
colocalizes_with histone deacetylase complex IDA
Inferred from Direct Assay
more info
PubMed 
nuclear chromatin IDA
Inferred from Direct Assay
more info
PubMed 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
transcription factor complex IDA
Inferred from Direct Assay
more info
PubMed 
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

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, OTTHUMP00000009563, ENST00000371884.6, OTTHUMT00000021639
    Conserved Domains (1) summary
    smart00353
    Location:193243
    HLH; helix loop helix domain
  2. NM_001290403.1NP_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, BQ186967, M61108
    Consensus CDS
    CCDS547.1
    UniProtKB/Swiss-Prot
    P17542
    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, OTTHUMP00000009564, ENST00000294339.3, OTTHUMT00000021640
    Conserved Domains (1) summary
    smart00353
    Location:193243
    HLH; helix loop helix domain
  5. NM_001290406.1NP_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 Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p12 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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