• Gene id: 79663

Gene Summary

• Gene Symbol: HSPBAP1   Gene   UCSC   Ensembl
• Aliases: PASS1
• Gene name: HSPB1 associated protein 1
• Alternate names: HSPB1-associated protein 1, 27 kDa heat shock protein-associated protein 1, HSPB (heat shock 27kDa) associated protein 1, protein associating with small stress protein PASS1,
• Gene location: 3q21.1 (122793830: 122739996)     Exons: 13     NC_000003.12
• Gene summary(Entrez): This gene encodes a protein that binds to one of the small heat shock proteins, specifically hsp27. Hsp27 is involved with cell growth and differentiation. This encoded protein was found to be abnormally expressed in patients with intractable epilepsy, al
• OMIM: 608263

Protein Summary

• Protein general information: Q96EW2  
  • Name: HSPB1 associated protein 1 (27 kDa heat shock protein associated protein 1) (Protein associated with small stress protein 1)
  • Length: 488  
  • Mass: 55167
  • Tissue specificity: Widely expressed. {ECO
• Sequence:

  MAAGSEATTPVIVAAGAGGEEGEHVKPFKPEKAKEIIMSLQQPAIFCNMVFDWPARHWNAKYLSQVLHGKQIRFR
  MGMKSMSTVPQFETTCNYVEATLEEFLTWNCDQSSISGPFRDYDHSKFWAYADYKYFVSLFEDKTDLFQDVKWSD
  FGFPGRNGQESTLWIGSLGAHTPCHLDSYGCNLVFQVQGRKRWHLFPPEDTPFLYPTRIPYEESSVFSKINVVNP
  DLKRFPQFRKAQRHAVTLSPGQVLFVPRHWWHYVESIDPVTVSINSWIELEEDHLARVEEAITRMLVCALKTAEN
  PQNTRAWLNPTEVEETSHAVNCCYLNAAVSAFFDRCRTSEVVEIQALRTDGEHMKKEELNVCNHMEVGQTGSQNL
  TTGTDKPEAASPFGPDLVPVAQRSEEPPSERGGIFGSDGKDFVDKDGEHFGKLHCAKRQQIMSNSENAIEEQIAS
  NTTTTPQTFISTDDLLDCLVNPQVTRIVAQLLIQGRSL

• Structural information:
  • Protein Domains: (124..28-)
    (/note="JmjC-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00538"-)
  • Interpro: IPR041667  IPR013296  IPR003347  
  • Prosite: PS51184
  • STRING: ENSP00000302562
• Other Databases: GeneCards:  HSPBAP1  Malacards:  HSPBAP1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0016706	2-oxoglutarate-dependent dioxygenase activity	IBA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0055114	oxidation-reduction process	IEA	biological process

Diseases

Associated diseases	References
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

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)
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray