• Gene id: 7469

Gene Summary

• Gene Symbol: NELFA   Gene   UCSC   Ensembl
• Aliases: NELF-A, P/OKcl.15, WHSC2
• Gene name: negative elongation factor complex member A
• Alternate names: negative elongation factor A, wolf-Hirschhorn syndrome candidate 2 protein,
• Gene location: 4p16.3 (2041913: 1982716)     Exons: 15     NC_000004.12
• Gene summary(Entrez): This gene is expressed ubiquitously with higher levels in fetal than in adult tissues. It encodes a protein sharing 93% sequence identity with the mouse protein. Wolf-Hirschhorn syndrome (WHS) is a malformation syndrome associated with a hemizygous deleti
• OMIM: 606026

Protein Summary

• Protein general information: Q9H3P2  
  • Name: Negative elongation factor A (NELF A) (Wolf Hirschhorn syndrome candidate 2 protein)
  • Length: 528  
  • Mass: 57277
  • Tissue specificity: Ubiquitous. Expressed in heart, brain, placenta, liver, skeletal muscle, kidney and pancreas. Expressed at lower level in adult lung. Expressed in fetal brain, lung, liver and kidney. {ECO
• Sequence:

  MASMRESDTGLWLHNKLGATDELWAPPSIASLLTAAVIDNIRLCFHGLSSAVKLKLLLGTLHLPRRTVDEMKGAL
  MEIIQLASLDSDPWVLMVADILKSFPDTGSLNLELEEQNPNVQDILGELREKVGECEASAMLPLECQYLNKNALT
  TLAGPLTPPVKHFQLKRKPKSATLRAELLQKSTETAQQLKRSAGVPFHAKGRGLLRKMDTTTPLKGIPKQAPFRS
  PTAPSVFSPTGNRTPIPPSRTLLRKERGVKLLDISELDMVGAGREAKRRRKTLDAEVVEKPAKEETVVENATPDY
  AAGLVSTQKLGSLNNEPALPSTSYLPSTPSVVPASSYIPSSETPPAPSSREASRPPEEPSAPSPTLPAQFKQRAP
  MYNSGLSPATPTPAAPTSPLTPTTPPAVAPTTQTPPVAMVAPQTQAPAQQQPKKNLSLTREQMFAAQEMFKTANK
  VTRPEKALILGFMAGSRENPCQEQGDVIQIKLSEHTEDLPKADGQGSTTMLVDTVFEMNYATGQWTRFKKYKPMT
  NVS

• Structural information:
  • Protein Domains: (89..24-)
    (/note="HDAg-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01183"-)
  • Interpro: IPR037517  IPR026305  
  • Prosite: PS51838
  • PDB: 5L3X 6GML
  • PDBsum: 5L3X 6GML
  • DIP: 48478
  • STRING: ENSP00000372335
• Other Databases: GeneCards:  NELFA  Malacards:  NELFA

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0032021	NELF complex	IBA	cellular component
GO:0034244	negative regulation of transcription elongation from RNA polymerase II promoter	IBA	biological process
GO:0032021	NELF complex	IDA	cellular component
GO:0032021	NELF complex	IEA	cellular component
GO:0034244	negative regulation of transcription elongation from RNA polymerase II promoter	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0007275	multicellular organism development	TAS	biological process
GO:0006368	transcription elongation from RNA polymerase II promoter	TAS	biological process
GO:0006368	transcription elongation from RNA polymerase II promoter	TAS	biological process
GO:0006368	transcription elongation from RNA polymerase II promoter	TAS	biological process
GO:0050434	positive regulation of viral transcription	TAS	biological process
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: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:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0006366	transcription by RNA polymerase II	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: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:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0016604	nuclear body	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component

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)