• Gene id: 3195

Gene Summary

• Gene Symbol: TLX1   Gene   UCSC   Ensembl
• Aliases: HOX11, TCL3
• Gene name: T cell leukemia homeobox 1
• Alternate names: T-cell leukemia homeobox protein 1, 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,
• Gene location: 10q24.31 (101130772: 101137788)     Exons: 4     NC_000010.11
• Gene summary(Entrez): 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 specif

Protein Summary

• Protein general information: P31314  
  • Name: T cell leukemia homeobox protein 1 (Homeobox protein Hox 11) (Proto oncogene TCL 3) (T cell leukemia/lymphoma protein 3)
  • Length: 330  
  • Mass: 34365
• Sequence:

  MEHLGPHHLHPGHAEPISFGIDQILNSPDQGGCMGPASRLQDGEYGLGCLVGGAYTYGGGGSAAATGAGGAGAYG
  TGGPGGPGGPAGGGGACSMGPLTGSYNVNMALAGGPGPGGGGGSSGGAGALSAAGVIRVPAHRPLAGAVAHPQPL
  ATGLPTVPSVPAMPGVNNLTGLTFPWMESNRRYTKDRFTGHPYQNRTPPKKKKPRTSFTRLQICELEKRFHRQKY
  LASAERAALAKALKMTDAQVKTWFQNRRTKWRRQTAEEREAERQQANRILLQLQQEAFQKSLAQPLPADPLCVHN
  SSLFALQNLQPWSDDSTKITSVTSVASACE

• Structural information:
  • Interpro: IPR009057  IPR017970  IPR001356  IPR020479  IPR042247  
  • Prosite: PS00027 PS50071
  • CDD: cd00086
  • DIP: 155
  • STRING: ENSP00000359215
• Other Databases: GeneCards:  TLX1  Malacards:  TLX1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000790	nuclear chromatin	ISA	cellular component
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM	molecular function
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA	molecular function
GO:0048513	animal organ development	IBA	biological process
GO:0006357	regulation of transcription by RNA polymerase II	IBA	biological process
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IBA	molecular function
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0003700	DNA-binding transcription factor activity	IEA	molecular function
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0007275	multicellular organism development	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA	molecular function
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process

KEGG pathways

Pathway id	Pathway name
hsa05202	Transcriptional misregulation in cancer

Diseases

Associated diseases	References
T-cell acute lymphoblastic leukemia	KEGG:H00002
T-cell acute lymphoblastic leukemia	KEGG:H00002
Adult T-cell leukemia	PMID:1683261
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray