• Gene id: 55672

Gene Summary

• Gene Symbol: NBPF1   Gene   UCSC   Ensembl
• Aliases: AB13, AB14, AB23, AD2, NBG, NBPF
• Gene name: NBPF member 1
• Alternate names: neuroblastoma breakpoint family member 1,
• Gene location: 1p36.13 (16613563: 16562322)     Exons: 28     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
• OMIM: 610501

Protein Summary

• Protein general information: Q3BBV0  
  • Name: Neuroblastoma breakpoint family member 1
  • Length: 1214  
  • Mass: 139258
  • Tissue specificity: Widely expressed. The only tissue which shows a weak expression is kidney. {ECO
• Sequence:

  MVVSAGPWSSEKAETNILEINEKLRPQLAENKQQFRNLKEKCFVTQLAGFLANRQKKYKYEECKDLIKFMLRNER
  QFKEEKLAEQLKQAEELRQYKVLVHSQERELTQLREKLREGRDASRSLNQHLQALLTPDKPDKSQGQDLQEQLAE
  GCRLAQQLFQKLSPENDEDEDEDVQVEEAEKVLESSAPREVQKAEESKVPEDSLEECAITCSNSHSPCDSNQPHK
  NINITFEEDKVNSTLVVDRESSHDECQDAVNILPVPGPTSSATNVSMVVSAGPLSSEKAEMNILEINEKLHPQLA
  EKKQQFRNLKEKCFVTQLACFLANQQNKYKYEECKDLIKSMLRNERQFKEEKLAEQLKQAEELRQYKVLVHSQER
  ELTQLREKLREGRDASRSLNQHLQALLTPDKPDKSQGQDLQEQLAEGCRLAQQLFQKLSPENDEDEDEDVQVEEA
  EKVLESSAPREVQKAEESKVPEDSLEECAITCSNSHGPCDSNQPHKNINITFEEDKVNSALVVDRESSHDECQDA
  VNILPVPGPTSSATNVSMVVSAGPLSSEKAEMNILEINEKLHPQLAEKKQQFRNLKEKCFVTQLACFLANQQNKY
  KNEECKDLIKSMLRNERQFKEEKLAEQLKQAEELRQYKVLVHSQERELTQLREKLREGRDASCSLNQHLQALLTP
  DEPDKSQGQDLQEQLAEGCRLAQHLVQKLSPENDNDDDEDVQVEVAEKVQKSSAPREMPKAEEKEVPEDSLEECA
  ITCSNSHGPYDSNQPHRKTKITFEEDKVDSTLIGSSSHVEWEDAVHIIPENESDDEEEEEKGPVSPRNLQESEEE
  EVPQESWDEGYSTLSIPPEMLASYKSYSGTFHSLEEQQVCMAVDIGGHRWDQVKKEDQEATGPRLSRELLDEKGP
  EVLQDSLDRCYSTPSGYLELTDSCQPYRSAFYILEQQRVGWALDMDEIEKYQEVEEDQDPSCPRLSRELLDEKEP
  EVLQDSLDRCYSTPSGYLELPDLGQPYRSAVYSLEEQYLGLALDVDRIKKDQEEEEDQGPPCPRLSRELLEAVEP
  EVLQDSLDRCYSTPSSCLEQPDSCLPYGSSFYALEEKHVGFSLDVGEIEKKGKGKKRRGRRSTKKRRRRGRKEGE
  EDQNPPCPRLSGMLMEVEEPEVLQDSLDRCYSTPSMYFELPDSFQHYRSVFYSFEEQHISFALDVDNRFLTLMGT
  SLHLVFQMGVIFPQ

• Structural information:
  • Protein Domains: (165..25-)
    (/note="Olduvai-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00647-)
    (436..53-)
    (/note="Olduvai-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00647-)
    (707..79-)
    (/note="Olduvai-3)
    (/evidence="ECO:0000255|PROSITE-ProRule:PR-)
  • Interpro: IPR010630  
  • Prosite: PS51316
  • STRING: ENSP00000474456
• Other Databases: GeneCards:  NBPF1  Malacards:  NBPF1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005737	cytoplasm	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005737	cytoplasm	IEA	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)