• Gene id: 23137

Gene Summary

• Gene Symbol: SMC5   Gene   UCSC   Ensembl
• Aliases: SMC5L1
• Gene name: structural maintenance of chromosomes 5
• Alternate names: structural maintenance of chromosomes protein 5, SMC protein 5, SMC-5, SMC5 structural maintenance of chromosomes 5-like 1, hSMC5,
• Gene location: 9q21.12 (101594968: 101591603)     Exons: 1     NC_000009.12
• OMIM: 609386

Protein Summary

• Protein general information: Q8IY18  
  • Name: Structural maintenance of chromosomes protein 5 (SMC protein 5) (SMC 5) (hSMC5)
  • Length: 1101  
  • Mass: 128806
  • Tissue specificity: Widely expressed (PubMed
• Sequence:

  MATPSKKTSTPSPQPSKRALPRDPSSEVPSKRKNSAPQLPLLQSSGPFVEGSIVRISMENFLTYDICEVSPGPHL
  NMIVGANGTGKSSIVCAICLGLAGKPAFMGRADKVGFFVKRGCSRGMVEIELFRASGNLVITREIDVAKNQSFWF
  INKKSTTQKIVEEKVAALNIQVGNLCQFLPQDKVGEFAKLSKIELLEATEKSIGPPEMHKYHCELKNLREKEKQL
  ETSCKEKTEYLQKMVQRNERYKQDVERFYERKRHLDLIEMLEAKRPWVEYENVRQEYEEVKLVRDRVKEEVRKLK
  EGQIPVTCRIEEMENERHNLEARIKEKATDIKEASQKCKQKQDVIERKDKHIEELQQALIVKQNEELDRQRRIGN
  TRKMIEDLQNELKTTENCENLQPQIDAITNDLRRIQDEKALCEGEIIDKRRERETLEKEKKSVDDHIVRFDNLMN
  QKEDKLRQRFRDTYDAVLWLRNNRDKFKQRVCEPIMLTINMKDNKNAKYIENHIPSNDLRAFVFESQEDMEVFLK
  EVRDNKKLRVNAVIAPKSSYADKAPSRSLNELKQYGFFSYLRELFDAPDPVMSYLCCQYHIHEVPVGTEKTRERI
  ERVIQETRLKQIYTAEEKYVVKTSFYSNKVISSNTSLKVAQFLTVTVDLEQRRHLEEQLKEIHRKLQAVDSGLIA
  LRETSKHLEHKDNELRQKKKELLERKTKKRQLEQKISSKLGSLKLMEQDTCNLEEEERKASTKIKEINVQKAKLV
  TELTNLIKICTSLHIQKVDLILQNTTVISEKNKLESDYMAASSQLRLTEQHFIELDENRQRLLQKCKELMKRARQ
  VCNLGAEQTLPQEYQTQVPTIPNGHNSSLPMVFQDLPNTLDEIDALLTEERSRASCFTGLNPTIVQEYTKREEEI
  EQLTEELKGKKVELDQYRENISQVKERWLNPLKELVEKINEKFSNFFSSMQCAGEVDLHTENEEDYDKYGIRIRV
  KFRSSTQLHELTPHHQSGGERSVSTMLYLMALQELNRCPFRVVDEINQGMDPINERRVFEMVVNTACKENTSQYF
  FITPKLLQNLPYSEKMTVLFVYNGPHMLEPNTWNLKAFQRRRRRITFTQPS

• Structural information:
  • Interpro: IPR027417  IPR003395  IPR027131  
  • STRING: ENSP00000354957
• Other Databases: GeneCards:  SMC5  Malacards:  SMC5

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0030915	Smc5-Smc6 complex	IDA	cellular component
GO:0000781	chromosome, telomeric region	IDA	cellular component
GO:0035061	interchromatin granule	IDA	cellular component
GO:0016605	PML body	IDA	cellular component
GO:0035861	site of double-strand break	IDA	cellular component
GO:0006974	cellular response to DNA damage stimulus	IDA	biological process
GO:0006974	cellular response to DNA damage stimulus	IDA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0006303	double-strand break repair via nonhomologous end joining	IMP	NOT|biological process
GO:0090398	cellular senescence	IMP	biological process
GO:0034184	positive regulation of maintenance of mitotic sister chromatid cohesion	IMP	biological process
GO:0005634	nucleus	ISS	cellular component
GO:0000724	double-strand break repair via homologous recombination	IMP	biological process
GO:0000722	telomere maintenance via recombination	IMP	biological process
GO:0051984	positive regulation of chromosome segregation	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0000803	sex chromosome	ISS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0006281	DNA repair	IEA	biological process
GO:0007062	sister chromatid cohesion	IEA	biological process
GO:0030915	Smc5-Smc6 complex	IEA	cellular component
GO:0000724	double-strand break repair via homologous recombination	IEA	biological process
GO:0051301	cell division	IEA	biological process
GO:0006281	DNA repair	IEA	biological process
GO:0000781	chromosome, telomeric region	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0007049	cell cycle	IEA	biological process
GO:0005694	chromosome	IEA	cellular component
GO:0006974	cellular response to DNA damage stimulus	IEA	biological process
GO:0006310	DNA recombination	IEA	biological process
GO:0005524	ATP binding	IEA	molecular function
GO:0005654	nucleoplasm	TAS	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:0000781	chromosome, telomeric region	IEA	cellular component
GO:0000803	sex chromosome	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0016605	PML body	IEA	cellular component
GO:0016605	PML body	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005694	chromosome	IEA	cellular component
GO:0000781	chromosome, telomeric region	IEA	cellular component
GO:0030054	cell junction	IDA	cellular component
GO:0016607	nuclear speck	IDA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881