• Gene id: 5455

Gene Summary

• Gene Symbol: POU3F3   Gene   UCSC   Ensembl
• Aliases: BRN1, OTF8, SNIBFIS, brain-1, oct-8
• Gene name: POU class 3 homeobox 3
• Alternate names: POU domain, class 3, transcription factor 3, brain-specific homeobox/POU domain protein 1, octamer-binding protein 8, octamer-binding transcription factor 8,
• Gene location: 2q12.1 (104854114: 104858573)     Exons: 1     NC_000002.12
• Gene summary(Entrez): This gene encodes a POU-domain containing protein that functions as a transcription factor. The encoded protein recognizes an octamer sequence in the DNA of target genes. This protein may play a role in development of the nervous system. [provided by RefS
• OMIM: 602480

Protein Summary

• Protein general information: P20264  
  • Name: POU domain, class 3, transcription factor 3 (Brain specific homeobox/POU domain protein 1) (Brain 1) (Brn 1) (Octamer binding protein 8) (Oct 8) (Octamer binding transcription factor 8) (OTF 8)
  • Length: 500  
  • Mass: 50327
  • Tissue specificity: Brain. {ECO
• Sequence:

  MATAASNPYLPGNSLLAAGSIVHSDAAGAGGGGGGGGGGGGGGAGGGGGGMQPGSAAVTSGAYRGDPSSVKMVQS
  DFMQGAMAASNGGHMLSHAHQWVTALPHAAAAAAAAAAAAVEASSPWSGSAVGMAGSPQQPPQPPPPPPQGPDVK
  GGAGRDDLHAGTALHHRGPPHLGPPPPPPHQGHPGGWGAAAAAAAAAAAAAAAAHLPSMAGGQQPPPQSLLYSQP
  GGFTVNGMLSAPPGPGGGGGGAGGGAQSLVHPGLVRGDTPELAEHHHHHHHHAHPHPPHPHHAQGPPHHGGGGGG
  AGPGLNSHDPHSDEDTPTSDDLEQFAKQFKQRRIKLGFTQADVGLALGTLYGNVFSQTTICRFEALQLSFKNMCK
  LKPLLNKWLEEADSSTGSPTSIDKIAAQGRKRKKRTSIEVSVKGALESHFLKCPKPSAQEITNLADSLQLEKEVV
  RVWFCNRRQKEKRMTPPGIQQQTPDDVYSQVGTVSADTPPPHHGLQTSVQ

• Structural information:
  • Protein Domains: (314..38-)
    (/note="POU-specific-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00530"-)
  • Interpro: IPR009057  IPR017970  IPR001356  IPR010982  IPR013847   IPR000327  IPR016362  
  • Prosite: PS00027 PS50071 PS00035 PS00465 PS51179
  • CDD: cd00086
  • STRING: ENSP00000355001
• Other Databases: GeneCards:  POU3F3  Malacards:  POU3F3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM	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:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0042803	protein homodimerization activity	IDA	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0003700	DNA-binding transcription factor activity	IEA	molecular function
GO:0006357	regulation of transcription by RNA polymerase II	IEA	biological process
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0007420	brain development	IEA	biological process
GO:0007275	multicellular organism development	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0007399	nervous system development	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0003700	DNA-binding transcription factor activity	TAS	molecular function
GO:0007417	central nervous system development	TAS	biological process
GO:0001822	kidney development	IEA	biological process
GO:0007588	excretion	IEA	biological process
GO:0008284	positive regulation of cell population proliferation	IEA	biological process
GO:0021799	cerebral cortex radially oriented cell migration	IEA	biological process
GO:0043066	negative regulation of apoptotic process	IEA	biological process
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0045892	negative regulation of transcription, DNA-templated	IEA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IEA	biological process
GO:0071837	HMG box domain binding	IEA	molecular function
GO:0072218	metanephric ascending thin limb development	IEA	biological process
GO:0072240	metanephric DCT cell differentiation	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0021869	forebrain ventricular zone progenitor cell division	IEA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0048878	chemical homeostasis	IEA	biological process
GO:0072227	metanephric macula densa development	IEA	biological process
GO:0072233	metanephric thick ascending limb development	IEA	biological process
GO:0072236	metanephric loop of Henle development	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0072218	metanephric ascending thin limb development	ISS	biological process
GO:0045893	positive regulation of transcription, DNA-templated	ISS	biological process
GO:0045893	positive regulation of transcription, DNA-templated	ISS	biological process
GO:0045892	negative regulation of transcription, DNA-templated	ISS	biological process
GO:0010628	positive regulation of gene expression	ISS	biological process
GO:0008284	positive regulation of cell population proliferation	ISS	biological process
GO:0072236	metanephric loop of Henle development	ISS	biological process
GO:0072233	metanephric thick ascending limb development	ISS	biological process
GO:0072227	metanephric macula densa development	ISS	biological process
GO:0005634	nucleus	ISS	cellular component
GO:0072240	metanephric DCT cell differentiation	ISS	biological process
GO:0043565	sequence-specific DNA binding	ISS	molecular function
GO:0043066	negative regulation of apoptotic process	ISS	biological process

Diseases

Associated diseases	References
Snijders Blok-Fisher syndrome	KEGG:H02387
Snijders Blok-Fisher syndrome	KEGG:H02387
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)