• Gene id: 5463

Gene Summary

• Gene Symbol: POU6F1   Gene   UCSC   Ensembl
• Aliases: BRN5, MPOU, TCFB1
• Gene name: POU class 6 homeobox 1
• Alternate names: POU domain, class 6, transcription factor 1, brain-5, brain-specific homeobox/POU domain protein 5, mPOU homeobox protein,
• Gene location: 12q13.13 (51219874: 51186935)     Exons: 15     NC_000012.12
• OMIM: 602190

SNPs

rs3000811

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000001.11   g.227400755G>A
NC_000001.11   g.227400755G>C
NC_000001.10   g.227588456G>A
NC_000001.10   g.227588456G>C|SEQ=[G/A/C]|GENE=LINC01641

Protein Summary

• Protein general information: Q14863  
  • Name: POU domain, class 6, transcription factor 1 (Brain specific homeobox/POU domain protein 5) (Brain 5) (Brn 5) (mPOU homeobox protein)
  • Length: 301  
  • Mass: 32645
  • Tissue specificity: In the embryo, expressed exclusively in the developing brain, whereas in the adult its expression is restricted to brain, heart, skeletal muscle and lung. In the brain, the highest expression levels are found in specific cell layers of
• Sequence:

  MPGISSQILTNAQGQVIGTLPWVVNSASVAAPAPAQSLQVQAVTPQLLLNAQGQVIATLASSPLPPPVAVRKPST
  PESPAKSEVQPIQPTPTVPQPAVVIASPAPAAKPSASAPIPITCSETPTVSQLVSKPHTPSLDEDGINLEEIREF
  AKNFKIRRLSLGLTQTQVGQALTATEGPAYSQSAICRFEKLDITPKSAQKLKPVLEKWLNEAELRNQEGQQNLME
  FVGGEPSKKRKRRTSFTPQAIEALNAYFEKNPLPTGQEITEIAKELNYDREVVRVWFCNRRQTLKNTSKLNVFQI
  P

• Structural information:
  • Protein Domains: (139..21-)
    (/note="POU-specific-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00530"-)
  • Interpro: IPR009057  IPR001356  IPR010982  IPR013847  IPR000327  
  • Prosite: PS50071 PS00035 PS00465 PS51179
  • CDD: cd00086
  • PDB: 3D1N
  • PDBsum: 3D1N
  • STRING: ENSP00000373895
• Other Databases: GeneCards:  POU6F1  Malacards:  POU6F1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001227	DNA-binding transcription repressor activity, RNA polymerase II-specific	IDA	molecular function
GO:0000122	negative regulation of transcription by RNA polymerase II	IDA	biological process
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM	molecular function
GO:0043565	sequence-specific DNA binding	IDA	molecular function
GO:0000790	nuclear chromatin	ISA	cellular component
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA	molecular function
GO:0030154	cell differentiation	IBA	biological process
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IBA	molecular function
GO:0045944	positive regulation of transcription by RNA polymerase II	IBA	biological process
GO:0005634	nucleus	IBA	cellular component
GO:0003700	DNA-binding transcription factor activity	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:0005634	nucleus	IEA	cellular component
GO:0003700	DNA-binding transcription factor activity	TAS	molecular function
GO:0007420	brain development	TAS	biological process
GO:0007507	heart development	TAS	biological process
GO:0007517	muscle organ development	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IEA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881