• Gene id: 64210

Gene Summary

• Gene Symbol: MMS19   Gene   UCSC   Ensembl
• Aliases: CIAO4, MET18, MMS19L, hMMS19
• Gene name: MMS19 homolog, cytosolic iron-sulfur assembly component
• Alternate names: MMS19 nucleotide excision repair protein homolog, MET18 homolog, MMS19 cytosolic iron-sulfur assembly component, MMS19 nucleotide excision repair homolog, MMS19-like (MET18 homolog, S. cerevisiae), MMS19-like protein, homolog of yeast MMS19,
• Gene location: 10q24.1 (97498793: 97458323)     Exons: 33     NC_000010.11
• OMIM: 172450

Protein Summary

• Protein general information: Q96T76  
  • Name: MMS19 nucleotide excision repair protein homolog (hMMS19) (MET18 homolog) (MMS19 like protein)
  • Length: 1030  
  • Mass: 113290
  • Tissue specificity: Ubiquitously expressed with higher expression in testis. {ECO
• Sequence:

  MAAAAAVEAAAPMGALWGLVHDFVVGQQEGPADQVAADVKSGNYTVLQVVEALGSSLENPEPRTRARAIQLLSQV
  LLHCHTLLLEKEVVHLILFYENRLKDHHLVIPSVLQGLKALSLCVALPPGLAVSVLKAIFQEVHVQSLPQVDRHT
  VYNIITNFMRTREEELKSLGADFTFGFIQVMDGEKDPRNLLVAFRIVHDLISRDYSLGPFVEELFEVTSCYFPID
  FTPPPNDPHGIQREDLILSLRAVLASTPRFAEFLLPLLIEKVDSEVLSAKLDSLQTLNACCAVYGQKELKDFLPS
  LWASIRREVFQTASERVEAEGLAALHSLTACLSRSVLRADAEDLLDSFLSNILQDCRHHLCEPDMKLVWPSAKLL
  QAAAGASARACDSVTSNVLPLLLEQFHKHSQSSQRRTILEMLLGFLKLQQKWSYEDKDQRPLNGFKDQLCSLVFM
  ALTDPSTQLQLVGIRTLTVLGAQPDLLSYEDLELAVGHLYRLSFLKEDSQSCRVAALEASGTLAALYPVAFSSHL
  VPKLAEELRVGESNLTNGDEPTQCSRHLCCLQALSAVSTHPSIVKETLPLLLQHLWQVNRGNMVAQSSDVIAVCQ
  SLRQMAEKCQQDPESCWYFHQTAIPCLLALAVQASMPEKEPSVLRKVLLEDEVLAAMVSVIGTATTHLSPELAAQ
  SVTHIVPLFLDGNVSFLPENSFPSRFQPFQDGSSGQRRLIALLMAFVCSLPRNVEIPQLNQLMRELLELSCCHSC
  PFSSTAAAKCFAGLLNKHPAGQQLDEFLQLAVDKVEAGLGSGPCRSQAFTLLLWVTKALVLRYHPLSSCLTARLM
  GLLSDPELGPAAADGFSLLMSDCTDVLTRAGHAEVRIMFRQRFFTDNVPALVQGFHAAPQDVKPNYLKGLSHVLN
  RLPKPVLLPELPTLLSLLLEALSCPDCVVQLSTLSCLQPLLLEAPQVMSLHVDTLVTKFLNLSSSPSMAVRIAAL
  QCMHALTRLPTPVLLPYKPQVIRALAKPLDDKKRLVRKEAVSARGEWFLLGSPGS

• Structural information:
  • Interpro: IPR011989  IPR016024  IPR039920  IPR024687  IPR029240  
  • STRING: ENSP00000412698
• Other Databases: GeneCards:  MMS19  Malacards:  MMS19

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0097428	protein maturation by iron-sulfur cluster transfer	IBA	biological process
GO:0097361	CIA complex	IBA	cellular component
GO:0016226	iron-sulfur cluster assembly	IBA	biological process
GO:0071817	MMXD complex	IBA	cellular component
GO:0097361	CIA complex	IDA	cellular component
GO:0097428	protein maturation by iron-sulfur cluster transfer	IDA	biological process
GO:1905168	positive regulation of double-strand break repair via homologous recombination	IDA	biological process
GO:0097361	CIA complex	IDA	cellular component
GO:0097361	CIA complex	IDA	cellular component
GO:0071817	MMXD complex	IDA	cellular component
GO:0005819	spindle	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0016226	iron-sulfur cluster assembly	IMP	biological process
GO:0016226	iron-sulfur cluster assembly	IMP	biological process
GO:0006281	DNA repair	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0007059	chromosome segregation	IMP	biological process
GO:0006974	cellular response to DNA damage stimulus	IMP	biological process
GO:0006259	DNA metabolic process	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0097428	protein maturation by iron-sulfur cluster transfer	IEA	biological process
GO:0006281	DNA repair	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0006974	cellular response to DNA damage stimulus	IEA	biological process
GO:0007059	chromosome segregation	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005856	cytoskeleton	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:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0019899	enzyme binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005819	spindle	IEA	cellular component
GO:0005815	microtubule organizing center	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0030674	protein-macromolecule adaptor activity	NAS	molecular function
GO:0030331	estrogen receptor binding	IPI	molecular function
GO:0009725	response to hormone	NAS	biological process
GO:0006351	transcription, DNA-templated	NAS	biological process
GO:0005634	nucleus	TAS	cellular component
GO:0045893	positive regulation of transcription, DNA-templated	IMP	biological process
GO:0006289	nucleotide-excision repair	TAS	biological process
GO:0006289	nucleotide-excision repair	NAS	biological process
GO:0016020	membrane	HDA	cellular component
GO:0030331	estrogen receptor binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0003713	transcription coactivator activity	IMP	molecular function
GO:0000160	phosphorelay signal transduction system	NAS	biological process
GO:0030159	signaling receptor complex adaptor activity	NAS	molecular function
GO:0005675	transcription factor TFIIH holo complex	NAS	cellular component

Diseases

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

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