• Gene id: 10051

Gene Summary

• Gene Symbol: SMC4   Gene   UCSC   Ensembl
• Aliases: CAP-C, CAPC, SMC-4, SMC4L1
• Gene name: structural maintenance of chromosomes 4
• Alternate names: structural maintenance of chromosomes protein 4, SMC protein 4, SMC4 structural maintenance of chromosomes 4-like 1, chromosome-associated polypeptide C,
• Gene location: 3q25.33 (160399637: 160434952)     Exons: 24     NC_000003.12
• Gene summary(Entrez): This gene belongs to the 'structural maintenance of chromosomes' (SMC) gene family. Members of this gene family play a role in two changes in chromosome structure during mitotic segregation of chromosomes- chromosome condensation and sister chromatid cohe
• OMIM: 605575

Protein Summary

• Protein general information: Q9NTJ3  
  • Name: Structural maintenance of chromosomes protein 4 (SMC protein 4) (SMC 4) (Chromosome associated polypeptide C) (hCAP C) (XCAP C homolog)
  • Length: 1288  
  • Mass: 147182
  • Tissue specificity: Widely expressed. Higher expression in testis, colon, thymus. {ECO
• Sequence:

  MPRKGTQPSTARRREEGPPPPSPDGASSDAEPEPPSGRTESPATAAETASEELDNRSLEEILNSIPPPPPPAMTN
  EAGAPRLMITHIVNQNFKSYAGEKILGPFHKRFSCIIGPNGSGKSNVIDSMLFVFGYRAQKIRSKKLSVLIHNSD
  EHKDIQSCTVEVHFQKIIDKEGDDYEVIPNSNFYVSRTACRDNTSVYHISGKKKTFKDVGNLLRSHGIDLDHNRF
  LILQGEVEQIAMMKPKGQTEHDEGMLEYLEDIIGCGRLNEPIKVLCRRVEILNEHRGEKLNRVKMVEKEKDALEG
  EKNIAIEFLTLENEIFRKKNHVCQYYIYELQKRIAEMETQKEKIHEDTKEINEKSNILSNEMKAKNKDVKDTEKK
  LNKITKFIEENKEKFTQLDLEDVQVREKLKHATSKAKKLEKQLQKDKEKVEEFKSIPAKSNNIINETTTRNNALE
  KEKEKEEKKLKEVMDSLKQETQGLQKEKESREKELMGFSKSVNEARSKMDVAQSELDIYLSRHNTAVSQLTKAKE
  ALIAASETLKERKAAIRDIEGKLPQTEQELKEKEKELQKLTQEETNFKSLVHDLFQKVEEAKSSLAMNRSRGKVL
  DAIIQEKKSGRIPGIYGRLGDLGAIDEKYDVAISSCCHALDYIVVDSIDIAQECVNFLKRQNIGVATFIGLDKMA
  VWAKKMTEIQTPENTPRLFDLVKVKDEKIRQAFYFALRDTLVADNLDQATRVAYQKDRRWRVVTLQGQIIEQSGT
  MTGGGSKVMKGRMGSSLVIEISEEEVNKMESQLQNDSKKAMQIQEQKVQLEERVVKLRHSEREMRNTLEKFTASI
  QRLIEQEEYLNVQVKELEANVLATAPDKKKQKLLEENVSAFKTEYDAVAEKAGKVEAEVKRLHNTIVEINNHKLK
  AQQDKLDKINKQLDECASAITKAQVAIKTADRNLQKAQDSVLRTEKEIKDTEKEVDDLTAELKSLEDKAAEVVKN
  TNAAEESLPEIQKEHRNLLQELKVIQENEHALQKDALSIKLKLEQIDGHIAEHNSKIKYWHKEISKISLHPIEDN
  PIEEISVLSPEDLEAIKNPDSITNQIALLEARCHEMKPNLGAIAEYKKKEELYLQRVAELDKITYERDSFRQAYE
  DLRKQRLNEFMAGFYIITNKLKENYQMLTLGGDAELELVDSLDPFSEGIMFSVRPPKKSWKKIFNLSGGEKTLSS
  LALVFALHHYKPTPLYFMDEIDAALDFKNVSIVAFYIYEQTKNAQFIIISLRNNMFEISDRLIGIYKTYNITKSV
  AVNPKEIASKGLC

• Structural information:
  • Protein Domains: (613..72-)
    (/note="SMC-hinge")
  • Interpro: IPR027417  IPR003395  IPR024704  IPR041738  IPR010935   IPR036277  
  • CDD: cd03274
  • PDB: 4U4P
  • PDBsum: 4U4P
  • DIP: 32946
  • STRING: ENSP00000349961
• Other Databases: GeneCards:  SMC4  Malacards:  SMC4

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000799	nuclear condensin complex	IBA	cellular component
GO:0007076	mitotic chromosome condensation	IBA	biological process
GO:0003697	single-stranded DNA binding	IBA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0005694	chromosome	IEA	cellular component
GO:0051276	chromosome organization	IEA	biological process
GO:0051301	cell division	IEA	biological process
GO:0030261	chromosome condensation	IEA	biological process
GO:0007049	cell cycle	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005694	chromosome	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005524	ATP binding	IEA	molecular function
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	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:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0051383	kinetochore organization	IEA	biological process
GO:0045132	meiotic chromosome segregation	IEA	biological process
GO:0010032	meiotic chromosome condensation	IEA	biological process
GO:0000796	condensin complex	IEA	cellular component
GO:0003697	single-stranded DNA binding	IEA	molecular function
GO:0005694	chromosome	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0016607	nuclear speck	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0000796	condensin complex	IDA	cellular component
GO:0007076	mitotic chromosome condensation	IDA	biological process
GO:0000797	condensin core heterodimer	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	TAS	cellular component
GO:0000070	mitotic sister chromatid segregation	TAS	biological process
GO:0005524	ATP binding	TAS	molecular function
GO:0000796	condensin complex	TAS	cellular component

Diseases

Associated diseases	References
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray