• Gene id: 2551

Gene Summary

• Gene Symbol: GABPA   Gene   UCSC   Ensembl
• Aliases: E4TF1-60, E4TF1A, NFT2, NRF2, NRF2A, RCH04A07
• Gene name: GA binding protein transcription factor subunit alpha
• Alternate names: GA-binding protein alpha chain, GA binding protein transcription factor alpha subunit 60kDa, GABP subunit alpha, human nuclear respiratory factor-2 subunit alpha, nuclear respiratory factor 2 alpha subunit, nuclear respiratory factor 2 subunit alpha, transcript,
• Gene location: 21q21.3 (25734971: 25772459)     Exons: 13     NC_000021.9
• Gene summary(Entrez): This gene encodes one of three GA-binding protein transcription factor subunits which functions as a DNA-binding subunit. Since this subunit shares identity with a subunit encoding the nuclear respiratory factor 2 gene, it is likely involved in activation
• OMIM: 611994

Protein Summary

• Protein general information: Q06546  
  • Name: GA binding protein alpha chain (GABP subunit alpha) (Nuclear respiratory factor 2 subunit alpha) (Transcription factor E4TF1 60)
  • Length: 454  
  • Mass: 51295
• Sequence:

  MTKREAEELIEIEIDGTEKAECTEESIVEQTYAPAECVSQAIDINEPIGNLKKLLEPRLQCSLDAHEICLQDIQL
  DPERSLFDQGVKTDGTVQLSVQVISYQGIEPKLNILEIVKPADTVEVVIDPDAHHAESEAHLVEEAQVITLDGTK
  HITTISDETSEQVTRWAAALEGYRKEQERLGIPYDPIQWSTDQVLHWVVWVMKEFSMTDIDLTTLNISGRELCSL
  NQEDFFQRVPRGEILWSHLELLRKYVLASQEQQMNEIVTIDQPVQIIPASVQSATPTTIKVINSSAKAAKVQRAP
  RISGEDRSSPGNRTGNNGQIQLWQFLLELLTDKDARDCISWVGDEGEFKLNQPELVAQKWGQRKNKPTMNYEKLS
  RALRYYYDGDMICKVQGKRFVYKFVCDLKTLIGYSAAELNRLVTECEQKKLAKMQLHGIAQPVTAVALATASLQT
  EKDN

• Structural information:
  • Protein Domains: (168..25-)
    (/note="PNT-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00762"-)
  • Interpro: IPR000418  IPR024668  IPR003118  IPR013761  IPR016312   IPR029071  IPR036388  IPR036390  
  • Prosite: PS00345 PS00346 PS50061 PS51433
  • DIP: 33980
  • STRING: ENSP00000346886
• Other Databases: GeneCards:  GABPA  Malacards:  GABPA

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:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IDA	molecular function
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA	molecular function
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA	biological process
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:0006357	regulation of transcription by RNA polymerase II	IBA	biological process
GO:0005634	nucleus	IBA	cellular component
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA	molecular function
GO:0003700	DNA-binding transcription factor activity	IEA	molecular function
GO:0042025	host cell nucleus	IEA	cellular component
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0003700	DNA-binding transcription factor activity	TAS	molecular function
GO:0005634	nucleus	TAS	cellular component
GO:0000976	transcription regulatory region sequence-specific DNA binding	IDA	molecular function
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0007005	mitochondrion organization	TAS	biological process
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:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA	molecular function
GO:0001825	blastocyst formation	IEA	biological process
GO:0003682	chromatin binding	IEA	molecular function
GO:0006357	regulation of transcription by RNA polymerase II	IEA	biological process
GO:0045653	negative regulation of megakaryocyte differentiation	IEA	biological process
GO:0000122	negative regulation of transcription by RNA polymerase II	IEA	biological process
GO:0001701	in utero embryonic development	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA	molecular function
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IDA	molecular function
GO:0000790	nuclear chromatin	IDA	cellular component
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:1903351	cellular response to dopamine	IMP	biological process
GO:0010628	positive regulation of gene expression	IMP	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA	biological process
GO:0033613	activating transcription factor binding	IPI	molecular function

Diseases

Associated diseases	References
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