• Gene id: 400818

Gene Summary

• Gene Symbol: NBPF9   Gene   UCSC   Ensembl
• Aliases: AE01
• Gene name: NBPF member 9
• Alternate names: neuroblastoma breakpoint family member 9,
• Gene location: 1q21.2 (149082310: 149054032)     Exons: 25     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: P0DPF3  
  • Name: Neuroblastoma breakpoint family member 9
  • Length: 1111  
  • Mass: 127756
  • Tissue specificity: Expressed in a neuroblastoma cell line. {ECO
• Sequence:

  MVVSAGPWSSEKAEMNILEINEKLRPQLAENKQQFGNLKERCFLTQLAGFLANRQKKYKYEECKDLIKFMLRNER
  QFKEEKLAEQLKQAEELRQYKVLVHSQERELTQLKEKLREGRDASRSLNEHLQALLTPDEPDKSQGQDLQEQLAE
  GCRLAQHLVQKLSPENDEDEDEDVQVEEDEKVLESSAPREVQKAEESKVAEDSLEECAITCSNSHGPCDSNQPHK
  NIKITFEEDEVNSTLVVDRESSHDECQDALNILPVPGPTSSATNVSMVVSAGPLSSEKAEMNILEINEKLRPQLA
  EKKQQFRNLKEKCFLTQLAGFLANQQNKYKYEECKDLIKFMLRNERQFKEEKLAEQLKQAEELRQYKVLVHAQER
  ELTQLREKLREGRDASRSLNEHLQALLTPDEPDKSQGQDLQEQLAEGCRLAQHLVQKLSPENDNDDDEDVQIEVA
  EKVQKSSAPREMQKAEEKEVPEDSLEECAITYSNSHGPYDSNQPHRKTKITFEEDKVDSTLIGSSSHVEREDAVH
  IIPENESDDEEEEEKGPVSPRNLQESEEEEVPQESWDEGYSTPSIPPEMLASYKSYSSTFHSLEEQQVCMAVDIG
  RHRWDQVKKEDQEATGPRLSRELLDEKGPEVLQDSLDRCYSTPSGCLELTDSCQPYRSAFYVLEQQRVGLAVDMD
  EIEKYQEVEEDQDPSCPRLSRELLDEKEPEVLQDSLGRWYSTPSGYLELPDLGQPYSSAVYSLEEQYLGLALDLD
  RIKKDQEEEEDQGPPCPRLSRELLEVVEPEVLQDSLDRCYSTPSSCLEQPDSCQPYGSSFYALEEKHVGFSLDVG
  EIEKKGKGKKRRGRRSKKKRRRGRKEGEENQNPPCPRLSRELLDEKEPEVLQDSLDRCYSTPSGYLELPDLGQPY
  SSAVYSLEEQYLGLALDVDRIKKDQEEEEDQGPPCPRLSRELLEVVEPEVLQDSLDRCYSTPSSCLEQPDSCQPY
  GSSFYALEEKHVGFSLDVGEIEKKGKGKKRRGRRSKKERRRGRKEGEEDQNPPCPRLNGVLMEVEEPEVLQDSLD
  GCYSTPSMYFELPDSFQHYRSVFYSFEEQHISFALYVDNRFFTLTVTSLHLVFQMEVIFPQ

• Structural information:
  • Protein Domains: (165..25-)
    (/note="Olduvai-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00647-)
    (436..52-)
    (/note="Olduvai-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00647-)
    (529..60-)
    (/note="Olduvai-3)
    (/evidence="ECO:0000255|PROSITE-ProRule:PR-)
  • Interpro: IPR010630  
  • Prosite: PS51316
• Other Databases: GeneCards:  NBPF9  Malacards:  NBPF9

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