• Gene id: 8243

Gene Summary

• Gene Symbol: SMC1A   Gene   UCSC   Ensembl
• Aliases: CDLS2, DXS423E, EIEE85, SB1.8, SMC1, SMC1L1, SMC1alpha, SMCB
• Gene name: structural maintenance of chromosomes 1A
• Alternate names: structural maintenance of chromosomes protein 1A, SMC protein 1A, SMC-1-alpha, SMC1 (structural maintenance of chromosomes 1, yeast)-like 1, epididymis secretory sperm binding protein, segregation of mitotic chromosomes 1,
• Gene location: Xp11.22 (53422727: 53374148)     Exons: 26     NC_000023.11
• Gene summary(Entrez): Proper cohesion of sister chromatids is a prerequisite for the correct segregation of chromosomes during cell division. The cohesin multiprotein complex is required for sister chromatid cohesion. This complex is composed partly of two structural maintenan
• OMIM: 300040

Protein Summary

• Protein general information: Q14683  
  • Name: Structural maintenance of chromosomes protein 1A (SMC protein 1A) (SMC 1 alpha) (SMC 1A) (Sb1.8)
  • Length: 1233  
  • Mass: 143233
• Sequence:

  MGFLKLIEIENFKSYKGRQIIGPFQRFTAIIGPNGSGKSNLMDAISFVLGEKTSNLRVKTLRDLIHGAPVGKPAA
  NRAFVSMVYSEEGAEDRTFARVIVGGSSEYKINNKVVQLHEYSEELEKLGILIKARNFLVFQGAVESIAMKNPKE
  RTALFEEISRSGELAQEYDKRKKEMVKAEEDTQFNYHRKKNIAAERKEAKQEKEEADRYQRLKDEVVRAQVQLQL
  FKLYHNEVEIEKLNKELASKNKEIEKDKKRMDKVEDELKEKKKELGKMMREQQQIEKEIKEKDSELNQKRPQYIK
  AKENTSHKIKKLEAAKKSLQNAQKHYKKRKGDMDELEKEMLSVEKARQEFEERMEEESQSQGRDLTLEENQVKKY
  HRLKEEASKRAATLAQELEKFNRDQKADQDRLDLEERKKVETEAKIKQKLREIEENQKRIEKLEEYITTSKQSLE
  EQKKLEGELTEEVEMAKRRIDEINKELNQVMEQLGDARIDRQESSRQQRKAEIMESIKRLYPGSVYGRLIDLCQP
  TQKKYQIAVTKVLGKNMDAIIVDSEKTGRDCIQYIKEQRGEPETFLPLDYLEVKPTDEKLRELKGAKLVIDVIRY
  EPPHIKKALQYACGNALVCDNVEDARRIAFGGHQRHKTVALDGTLFQKSGVISGGASDLKAKARRWDEKAVDKLK
  EKKERLTEELKEQMKAKRKEAELRQVQSQAHGLQMRLKYSQSDLEQTKTRHLALNLQEKSKLESELANFGPRIND
  IKRIIQSREREMKDLKEKMNQVEDEVFEEFCREIGVRNIREFEEEKVKRQNEIAKKRLEFENQKTRLGIQLDFEK
  NQLKEDQDKVHMWEQTVKKDENEIEKLKKEEQRHMKIIDETMAQLQDLKNQHLAKKSEVNDKNHEMEEIRKKLGG
  ANKEMTHLQKEVTAIETKLEQKRSDRHNLLQACKMQDIKLPLSKGTMDDISQEEGSSQGEDSVSGSQRISSIYAR
  EALIEIDYGDLCEDLKDAQAEEEIKQEMNTLQQKLNEQQSVLQRIAAPNMKAMEKLESVRDKFQETSDEFEAARK
  RAKKAKQAFEQIKKERFDRFNACFESVATNIDEIYKALSRNSSAQAFLGPENPEEPYLDGINYNCVAPGKRFRPM
  DNLSGGEKTVAALALLFAIHSYKPAPFFVLDEIDAALDNTNIGKVANYIKEQSTCNFQAIVISLKEEFYTKAESL
  IGVYPEQGDCVISKVLTFDLTKYPDANPNPNEQ

• Structural information:
  • Protein Domains: (515..62-)
    (/note="SMC-hinge")
  • Interpro: IPR027417  IPR003395  IPR024704  IPR029683  IPR010935   IPR036277  
  • DIP: 30911
  • STRING: ENSP00000323421
• Other Databases: GeneCards:  SMC1A  Malacards:  SMC1A

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0030893	meiotic cohesin complex	IDA	cellular component
GO:0008278	cohesin complex	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0003682	chromatin binding	IEA	molecular function
GO:0006281	DNA repair	IEA	biological process
GO:0007064	mitotic sister chromatid cohesion	IEA	biological process
GO:0005524	ATP binding	IEA	molecular function
GO:0005694	chromosome	IEA	cellular component
GO:0008278	cohesin complex	IEA	cellular component
GO:0051276	chromosome organization	IEA	biological process
GO:0000776	kinetochore	IEA	cellular component
GO:0051321	meiotic cell cycle	IEA	biological process
GO:0006281	DNA repair	IEA	biological process
GO:0051301	cell division	IEA	biological process
GO:0000166	nucleotide binding	IEA	molecular function
GO:0000775	chromosome, centromeric region	IEA	cellular component
GO:0007049	cell cycle	IEA	biological process
GO:0005694	chromosome	IEA	cellular component
GO:0005524	ATP binding	IEA	molecular function
GO:0006974	cellular response to DNA damage stimulus	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0000794	condensed nuclear chromosome	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: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:0003682	chromatin binding	IEA	molecular function
GO:0051321	meiotic cell cycle	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0008278	cohesin complex	IEA	cellular component
GO:0019827	stem cell population maintenance	IEA	biological process
GO:0030893	meiotic cohesin complex	IEA	cellular component
GO:0036033	mediator complex binding	IEA	molecular function
GO:0000776	kinetochore	IDA	cellular component
GO:0007062	sister chromatid cohesion	IMP	biological process
GO:0000777	condensed chromosome kinetochore	IEA	cellular component
GO:0005694	chromosome	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0003682	chromatin binding	IDA	molecular function
GO:0072423	response to DNA damage checkpoint signaling	IDA	biological process
GO:0000776	kinetochore	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0008278	cohesin complex	IDA	cellular component
GO:0016363	nuclear matrix	IDA	cellular component
GO:0097431	mitotic spindle pole	IDA	cellular component
GO:0008278	cohesin complex	IDA	cellular component
GO:0007064	mitotic sister chromatid cohesion	TAS	biological process
GO:0006281	DNA repair	TAS	biological process
GO:0003723	RNA binding	HDA	molecular function
GO:0009314	response to radiation	IEP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0051321	meiotic cell cycle	ISS	biological process
GO:0046982	protein heterodimerization activity	IPI	molecular function
GO:0008278	cohesin complex	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:0000070	mitotic sister chromatid segregation	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0090307	mitotic spindle assembly	IMP	biological process

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
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)