• Gene id: 253714

Gene Summary

• Gene Symbol: MMS22L   Gene   UCSC   Ensembl
• Aliases: C6orf167, dJ39B17.2
• Gene name: MMS22 like, DNA repair protein
• Alternate names: protein MMS22-like,
• Gene location: 6q16.1 (97283436: 97142160)     Exons: 31     NC_000006.12
• Gene summary(Entrez): The protein encoded by this gene forms a complex with tonsoku-like, DNA repair protein (TONSL), and this complex recognizes and repairs DNA double-strand breaks at sites of stalled or collapsed replication forks. The encoded protein also can bind with the
• OMIM: 194553

Protein Summary

• Protein general information: Q6ZRQ5  
  • Name: Protein MMS22 like (Methyl methanesulfonate sensitivity protein 22 like)
  • Length: 1243  
  • Mass: 142321
• Sequence:

  MENCSAASTFLTDSLELELGTEWCKPPYFSCAVDNRGGGKHFSGESYLCSGALKRLILNLDPLPTNFEEDTLEIF
  GIQWVTETALVNSSRELFHLFRQQLYNLETLLQSSCDFGKVSTLHCKADNIRQQCVLFLHYVKVFIFRYLKVQNA
  ESHVPVHPYEALEAQLPSVLIDELHGLLLYIGHLSELPSVNIGAFVNQNQIKLFPPSWHLLHLHLDIHWLVLEIL
  YMLGEKLKQVVYGHQFMNLASDNLTNISLFEEHCETLLCDLISLSLNRYDKVRSSESLMSDQCPCLCIKELWVLL
  IHLLDHRSKWFVSESFWNWLNKLLKTLLEKSSDRRRSSMPVIQSRDPLGFSWWIITHVASFYKFDRHGVPDEMRK
  VESNWNFVEELLKKSISVQGVILEEQLRMYLHCCLTLCDFWEPNIAIVTILWEYYSKNLNSSFSISWLPFKGLAN
  TMKSPLSMLEMVKTCCCDKQDQELYKSSSSYTIFLCILAKVVKKAMKSNGPHPWKQVKGRIYSKFHQKRMEELTE
  VGLQNFFSLFLLLAAVAEVEDVASHVLDLLNFLKPAFVTSQRALIWKGHMAFLLMYAQKNLDIGVLAEKFSCAFR
  EKAKEFLVSKNEEMVQRQTIWTLLSIYIDGVQEVFETSYCLYPSHEKLLNDGFSMLLRACRESELRTVLSFLQAV
  LARIRSMHQQLCQELQRDNVDLFVQSSLSAKERHLAAVASALWRHFFSFLKSQRMSQVVPFSQLADAAADFTLLA
  MDMPSTAPSDFQPQPVISIIQLFGWDDIICPQVVARYLSHVLQNSTLCEALSHSGYVSFQALTVRSWIRCVLQMY
  IKNLSGPDDLLIDKNLEEAVEKEYMKQLVKLTRLLFNLSEVKSIFSKAQVEYLSISEDPKKALVRFFEAVGVTYG
  NVQTLSDKSAMVTKSLEYLGEVLKYIKPYLGKKVFSAGLQLTYGMMGILVKSWAQIFATSKAQKLLFRIIDCLLL
  PHAVLQQEKELPAPMLSAIQKSLPLYLQGMCIVCCQSQNPNAYLNQLLGNVIEQYIGRFLPASPYVSDLGQHPVL
  LALRNTATIPPISSLKKCIVQVIRKSYLEYKGSSPPPRLASILAFILQLFKETNTDIYEVELLLPGILKCLVLVS
  EPQVKRLATENLQYMVKACQVGSEEEPSSQLTSVFRQFIQDYGMRYYYQVYSILETVATLDQQVVIHLISTLTQS
  LKDSEQKWGLGRNIAQREAYSKLLSHLGQMGQDEMQRLENDNT

• Structural information:
  • Interpro: IPR042320  IPR029424  IPR029425  
  • STRING: ENSP00000275053
• Other Databases: GeneCards:  MMS22L  Malacards:  MMS22L

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0031297	replication fork processing	IBA	biological process
GO:0043596	nuclear replication fork	IBA	cellular component
GO:0000724	double-strand break repair via homologous recombination	IBA	biological process
GO:0042555	MCM complex	IBA	colocalizes with
GO:0043596	nuclear replication fork	IDA	cellular component
GO:0043596	nuclear replication fork	IDA	cellular component
GO:0035101	FACT complex	IDA	colocalizes with
GO:0042555	MCM complex	IDA	colocalizes with
GO:0031297	replication fork processing	IMP	biological process
GO:0031297	replication fork processing	IMP	biological process
GO:0031297	replication fork processing	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:0000724	double-strand break repair via homologous recombination	IMP	biological process
GO:0000724	double-strand break repair via homologous recombination	IMP	biological process
GO:0000724	double-strand break repair via homologous recombination	IMP	biological process
GO:0031297	replication fork processing	IEA	biological process
GO:0000724	double-strand break repair via homologous recombination	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:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0031297	replication fork processing	IBA	biological process
GO:0043596	nuclear replication fork	IBA	cellular component
GO:0000724	double-strand break repair via homologous recombination	IBA	biological process
GO:0042555	MCM complex	IBA	colocalizes with
GO:0043596	nuclear replication fork	IDA	cellular component
GO:0043596	nuclear replication fork	IDA	cellular component
GO:0035101	FACT complex	IDA	colocalizes with
GO:0042555	MCM complex	IDA	colocalizes with
GO:0031297	replication fork processing	IMP	biological process
GO:0031297	replication fork processing	IMP	biological process
GO:0031297	replication fork processing	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:0000724	double-strand break repair via homologous recombination	IMP	biological process
GO:0000724	double-strand break repair via homologous recombination	IMP	biological process
GO:0000724	double-strand break repair via homologous recombination	IMP	biological process
GO:0031297	replication fork processing	IEA	biological process
GO:0000724	double-strand break repair via homologous recombination	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:0005515	protein binding	IPI	molecular function
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

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