• Gene id: 9126

Gene Summary

• Gene Symbol: SMC3   Gene   UCSC   Ensembl
• Aliases: BAM, BMH, CDLS3, CSPG6, HCAP, SMC3L1
• Gene name: structural maintenance of chromosomes 3
• Alternate names: structural maintenance of chromosomes protein 3, SMC protein 3, basement membrane-associated chondroitin proteoglycan, chondroitin sulfate proteoglycan 6 (bamacan), chromosome-associated polypeptide,
• Gene location: 10q25.2 (110567694: 110606047)     Exons: 29     NC_000010.11
• Gene summary(Entrez): This gene belongs to the SMC3 subfamily of SMC proteins. The encoded protein occurs in certain cell types as either an intracellular, nuclear protein or a secreted protein. The nuclear form, known as structural maintenance of chromosomes 3, is a component
• OMIM: 606062

Protein Summary

• Protein general information: Q9UQE7  
  • Name: Structural maintenance of chromosomes protein 3 (SMC protein 3) (SMC 3) (Basement membrane associated chondroitin proteoglycan) (Bamacan) (Chondroitin sulfate proteoglycan 6) (Chromosome associated polypeptide) (hCAP)
  • Length: 1217  
  • Mass: 141542
• Sequence:

  MYIKQVIIQGFRSYRDQTIVDPFSSKHNVIVGRNGSGKSNFFYAIQFVLSDEFSHLRPEQRLALLHEGTGPRVIS
  AFVEIIFDNSDNRLPIDKEEVSLRRVIGAKKDQYFLDKKMVTKNDVMNLLESAGFSRSNPYYIVKQGKINQMATA
  PDSQRLKLLREVAGTRVYDERKEESISLMKETEGKREKINELLKYIEERLHTLEEEKEELAQYQKWDKMRRALEY
  TIYNQELNETRAKLDELSAKRETSGEKSRQLRDAQQDARDKMEDIERQVRELKTKISAMKEEKEQLSAERQEQIK
  QRTKLELKAKDLQDELAGNSEQRKRLLKERQKLLEKIEEKQKELAETEPKFNSVKEKEERGIARLAQATQERTDL
  YAKQGRGSQFTSKEERDKWIKKELKSLDQAINDKKRQIAAIHKDLEDTEANKEKNLEQYNKLDQDLNEVKARVEE
  LDRKYYEVKNKKDELQSERNYLWREENAEQQALAAKREDLEKKQQLLRAATGKAILNGIDSINKVLDHFRRKGIN
  QHVQNGYHGIVMNNFECEPAFYTCVEVTAGNRLFYHIVDSDEVSTKILMEFNKMNLPGEVTFLPLNKLDVRDTAY
  PETNDAIPMISKLRYNPRFDKAFKHVFGKTLICRSMEVSTQLARAFTMDCITLEGDQVSHRGALTGGYYDTRKSR
  LELQKDVRKAEEELGELEAKLNENLRRNIERINNEIDQLMNQMQQIETQQRKFKASRDSILSEMKMLKEKRQQSE
  KTFMPKQRSLQSLEASLHAMESTRESLKAELGTDLLSQLSLEDQKRVDALNDEIRQLQQENRQLLNERIKLEGII
  TRVETYLNENLRKRLDQVEQELNELRETEGGTVLTATTSELEAINKRVKDTMARSEDLDNSIDKTEAGIKELQKS
  MERWKNMEKEHMDAINHDTKELEKMTNRQGMLLKKKEECMKKIRELGSLPQEAFEKYQTLSLKQLFRKLEQCNTE
  LKKYSHVNKKALDQFVNFSEQKEKLIKRQEELDRGYKSIMELMNVLELRKYEAIQLTFKQVSKNFSEVFQKLVPG
  GKATLVMKKGDVEGSQSQDEGEGSGESERGSGSQSSVPSVDQFTGVGIRVSFTGKQGEMREMQQLSGGQKSLVAL
  ALIFAIQKCDPAPFYLFDEIDQALDAQHRKAVSDMIMELAVHAQFITTTFRPELLESADKFYGVKFRNKVSHIDV
  ITAEMAKDFVEDDTTHG

• Structural information:
  • Protein Domains: (530..64-)
    (/note="SMC-hinge")
  • Interpro: IPR027417  IPR003395  IPR024704  IPR041741  IPR010935   IPR036277  
  • CDD: cd03272
  • DIP: 29200
  • STRING: ENSP00000354720
• Other Databases: GeneCards:  SMC3  Malacards:  SMC3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0030893	meiotic cohesin complex	IDA	cellular component
GO:0000785	chromatin	IDA	cellular component
GO:0000785	chromatin	IDA	cellular component
GO:0008278	cohesin complex	IDA	cellular component
GO:0006275	regulation of DNA replication	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: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: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:0006281	DNA repair	IEA	biological process
GO:0051321	meiotic cell cycle	IEA	biological process
GO:0005694	chromosome	IEA	cellular component
GO:0006974	cellular response to DNA damage stimulus	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0000775	chromosome, centromeric region	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0007049	cell cycle	IEA	biological process
GO:0000278	mitotic cell cycle	TAS	biological process
GO:0000775	chromosome, centromeric region	TAS	cellular component
GO:0000775	chromosome, centromeric region	TAS	cellular component
GO:0000775	chromosome, centromeric region	TAS	cellular component
GO:0000775	chromosome, centromeric region	TAS	cellular component
GO:0000775	chromosome, centromeric region	TAS	cellular component
GO:0000775	chromosome, centromeric region	TAS	cellular component
GO:0000775	chromosome, centromeric region	TAS	cellular component
GO:0005694	chromosome	TAS	cellular component
GO:0005694	chromosome	TAS	cellular component
GO:0005694	chromosome	TAS	cellular component
GO:0005694	chromosome	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: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: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: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: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: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: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: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: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: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:0036033	mediator complex binding	IEA	molecular function
GO:0034991	nuclear meiotic cohesin complex	IEA	cellular component
GO:0030893	meiotic cohesin complex	IEA	cellular component
GO:0019827	stem cell population maintenance	IEA	biological process
GO:0008278	cohesin complex	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0051321	meiotic cell cycle	IEA	biological process
GO:0003682	chromatin binding	IEA	molecular function
GO:0000800	lateral element	IEA	cellular component
GO:0007062	sister chromatid cohesion	IMP	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005694	chromosome	IEA	cellular component
GO:0000775	chromosome, centromeric region	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0097431	mitotic spindle pole	IDA	cellular component
GO:0016363	nuclear matrix	IDA	cellular component
GO:0051321	meiotic cell cycle	IDA	biological process
GO:0070840	dynein complex binding	IDA	molecular function
GO:0048487	beta-tubulin binding	IDA	molecular function
GO:0008278	cohesin complex	IDA	cellular component
GO:0008278	cohesin complex	IDA	cellular component
GO:0046982	protein heterodimerization activity	IPI	molecular function
GO:0008278	cohesin complex	NAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0007062	sister chromatid cohesion	NAS	biological process
GO:0003777	microtubule motor activity	NAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0090307	mitotic spindle assembly	IMP	biological process
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04110	Cell cycle
hsa04114	Oocyte meiosis

Diseases

Associated diseases	References
Cornelia de Lange syndrome	KEGG:H00631
Cornelia de Lange syndrome	KEGG:H00631
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Spermatogenic defects	MIK: 31037746
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
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray