• Gene id: 343505

Gene Summary

• Gene Symbol: NBPF7   Gene   UCSC   Ensembl
• Gene name: NBPF member 7
• Alternate names: putative neuroblastoma breakpoint family member 7, neuroblastoma breakpoint family member 7,
• Gene location: 1p12 (119844879: 119833729)     Exons: 9     NC_000001.11
• Gene summary(Entrez): This gene is a member of the neuroblastoma breakpoint family (NBPF) which consists of dozens of recently duplicated genes primarily located in segmental duplications on human chromosome 1. This gene family has experienced its greatest expansion within the

Protein Summary

• Protein general information: P0C2Y1  
  • Name: Putative neuroblastoma breakpoint family member 7
  • Length: 421  
  • Mass: 48090
• Sequence:

  MCLRFFSPVPGSTSSATNVTMVVSAGPWSSEKAEMNILEINEKLRPQLAENKQQFRNMKQKFLVTQMAGFLANQQ
  NKYKYEECKDLIKSMLREELQFKEEKLAEQLKQAEELRQYKVLVHSQERELIQLREKLREGRDASHSLNQHLQAL
  LTPDKHDNSQGQDFREQLAEGCRLARHLVHKLSPENDTDEDENDKTKELDKVQESPAPREEQKAEEKEVPEDSLE
  ECAITYSNSHGPSDSNPPHKNIKITSEEDKVNSILVVDSESSQDEWQDALNILLENQNDDEEEEGKAPVPPQVTL
  WICGLKLQESEEKEVLQDSPEERVTTSCSDHDVSQSYQPCEGTFLALVEQKVCSAQDVASEHSNSKGEETPLGFP
  DTKYCWKDEKDERMSQKVAFLLDEKNYNSKPSSIPNTTLQGSFTED

• Structural information:
  • Protein Domains: (190..27-)
    (/note="Olduvai-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00647-)
    (280..39-)
    (/note="Olduvai-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00647"-)
  • Interpro: IPR010630  
  • Prosite: PS51316
• Other Databases: GeneCards:  NBPF7  Malacards:  NBPF7

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component

Diseases

Associated diseases	References
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray