• Gene id: 84939

Gene Summary

• Gene Symbol: PWWP3A   Gene   UCSC   Ensembl
• Aliases: EXPAND1, HSPC211, MUM-1, MUM1
• Gene name: PWWP domain containing 3A, DNA repair factor
• Alternate names: PWWP domain-containing DNA repair factor 3A, PWWP domain-containing protein MUM1, melanoma associated antigen (mutated) 1, melanoma ubiquitous mutated protein, mutated melanoma-associated antigen 1, protein expandere,
• Gene location: 19p13.3 (1354958: 1378428)     Exons: 20     NC_000019.10
• OMIM: 611078

Protein Summary

• Protein general information: Q2TAK8  
  • Name: PWWP domain containing DNA repair factor 3A (PWWP3A) (Mutated melanoma associated antigen 1) (MUM 1) (PWWP domain containing protein MUM1) (Protein expandere)
  • Length: 710  
  • Mass: 78636
• Sequence:

  MADAKYVLCRWEKRLWPAKVLARTATSTKNKRRKEYFLAVQILSLEEKIKVKSTEVEILEKSQIEAIASSLASQN
  EVPAAPLEELAYRRSLRVALDVLSEGSIWSQESSAGTGRADRSLRGKPMEHVSSPCDSNSSSLPRGDVLGSSRPH
  RRRPCVQQSLSSSFTCEKDPECKVDHKKGLRKSENPRGPLVLPAGGGAQDESGSRIHHKNWTLASKRGGNSAQKA
  SLCLNGSSLSEDDTERDMGSKGGSWAAPSLPSGVREDDPCANAEGHDPGLPLGSLTAPPAPEPSACSEPGECPAK
  KRPRLDGSQRPPAVQLEPMAAGAAPSPGPGPGPRESVTPRSTARLGPPPSHASADATRCLPCPDSQKLEKECQSS
  EESMGSNSMRSILEEDEEDEEPPRVLLYHEPRSFEVGMLVWHKHKKYPFWPAVVKSVRQRDKKASVLYIEGHMNP
  KMKGFTVSLKSLKHFDCKEKQTLLNQAREDFNQDIGWCVSLITDYRVRLGCGSFAGSFLEYYAADISYPVRKSIQ
  QDVLGTKLPQLSKGSPEEPVVGCPLGQRQPCRKMLPDRSRAARDRANQKLVEYIVKAKGAESHLRAILKSRKPSR
  WLQTFLSSSQYVTCVETYLEDEGQLDLVVKYLQGVYQEVGAKVLQRTNGDRIRFILDVLLPEAIICAISAVDEVD
  YKTAEEKYIKGPSLSYREKEIFDNQLLEERNRRRR

• Structural information:
  • Protein Domains: (411..47-)
    (/note="PWWP"-)
  • Interpro: IPR033368  IPR035504  IPR040263  
  • CDD: cd06080
  • PDB: 3PMI
  • PDBsum: 3PMI
  • STRING: ENSP00000467083
• Other Databases: GeneCards:  PWWP3A  Malacards:  PWWP3A

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005829	cytosol	IBA	cellular component
GO:0006281	DNA repair	IBA	biological process
GO:0006325	chromatin organization	IBA	biological process
GO:0005634	nucleus	IBA	cellular component
GO:0031491	nucleosome binding	IBA	molecular function
GO:0031491	nucleosome binding	IDA	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0006325	chromatin organization	IMP	biological process
GO:0006281	DNA repair	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0006281	DNA repair	IEA	biological process
GO:0006325	chromatin organization	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0031491	nucleosome binding	IEA	molecular function
GO:0006281	DNA repair	IEA	biological process
GO:0006974	cellular response to DNA damage stimulus	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R