• Gene id: 4664

Gene Summary

• Gene Symbol: NAB1   Gene   UCSC   Ensembl
• Gene name: NGFI-A binding protein 1
• Alternate names: NGFI-A-binding protein 1, EGR-1-binding protein 1, EGR1 binding protein 1, transcriptional regulatory protein p54,
• Gene location: 2q32.2 (190648859: 190692765)     Exons: 13     NC_000002.12
• OMIM: 600800

Protein Summary

• Protein general information: Q13506  
  • Name: NGFI A binding protein 1 (EGR 1 binding protein 1) (Transcriptional regulatory protein p54)
  • Length: 487  
  • Mass: 54401
  • Tissue specificity: Isoform Short is found in myeloid leukemia cell line KG-1.
• Sequence:

  MAAALPRTLGELQLYRILQKANLLSYFDAFIQQGGDDVQQLCEAGEEEFLEIMALVGMASKPLHVRRLQKALRDW
  VTNPGLFNQPLTSLPVSSIPIYKLPEGSPTWLGISCSSYERSSNAREPHLKIPKCAATTCVQSLGQGKSDVVGSL
  ALQSVGESRLWQGHHATESEHSLSPADLGSPASPKESSEALDAAAALSVAECVERMAPTLPKSDLNEVKELLKTN
  KKLAKMIGHIFEMNDDDPHKEEEIRKYSAIYGRFDSKRKDGKHLTLHELTVNEAAAQLCVKDNALLTRRDELFAL
  ARQISREVTYKYTYRTTKSKCGERDELSPKRIKVEDGFPDFQDSVQTLFQQARAKSEELAALSSQQPEKVMAKQM
  EFLCNQAGYERLQHAERRLSAGLYRQSSEEHSPNGLTSDNSDGQGERPLNLRMPNLQNRQPHHFVVDGELSRLYP
  SEAKSHSSESLGILKDYPHSAFTLEKKVIKTEPEDSR

• Structural information:
  • Interpro: IPR006986  IPR006989  IPR039040  IPR006988  IPR038398  
  • PDB: 2YUF
  • PDBsum: 2YUF
  • STRING: ENSP00000336894
• Other Databases: GeneCards:  NAB1  Malacards:  NAB1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005634	nucleus	IBA	cellular component
GO:0006355	regulation of transcription, DNA-templated	IBA	biological process
GO:0045892	negative regulation of transcription, DNA-templated	IEA	biological process
GO:0003712	transcription coregulator activity	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0045682	regulation of epidermis development	IEA	biological process
GO:0042552	myelination	IEA	biological process
GO:0001958	endochondral ossification	IEA	biological process
GO:0014037	Schwann cell differentiation	IEA	biological process
GO:0008134	transcription factor binding	IEA	molecular function
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	NAS	cellular component
GO:0045892	negative regulation of transcription, DNA-templated	NAS	biological process
GO:0006355	regulation of transcription, DNA-templated	NAS	biological process

Diseases

Associated diseases	References
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)