InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Gene: SMC1A

Summary

InnateDB Gene

IDBG-69775.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

SMC1A

Gene Name

structural maintenance of chromosomes 1A

Synonyms

CDLS2; DXS423E; SB1.8; SMC1; SMC1alpha; SMC1L1; SMCB

Species

Homo sapiens

Ensembl Gene

ENSG00000072501

Encoded Proteins

IDBP-69777

structural maintenance of chromosomes 1A

IDBP-69779

structural maintenance of chromosomes 1A

IDBP-372998

structural maintenance of chromosomes 1A

IDBP-807528

structural maintenance of chromosomes 1A

IDBP-807536

structural maintenance of chromosomes 1A

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

Entrez Gene

Summary

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 maintenance of chromosomes (SMC) proteins, SMC3 and either SMC1L2 or the protein encoded by this gene. Most of the cohesin complexes dissociate from the chromosomes before mitosis, although those complexes at the kinetochore remain. Therefore, the encoded protein is thought to be an important part of functional kinetochores. In addition, this protein interacts with BRCA1 and is phosphorylated by ATM, indicating a potential role for this protein in DNA repair. This gene, which belongs to the SMC gene family, is located in an area of the X-chromosome that escapes X inactivation. [provided by RefSeq, Jul 2008]
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 maintenance of chromosomes (SMC) proteins, SMC3 and either SMC1B or the protein encoded by this gene. Most of the cohesin complexes dissociate from the chromosomes before mitosis, although those complexes at the kinetochore remain. Therefore, the encoded protein is thought to be an important part of functional kinetochores. In addition, this protein interacts with BRCA1 and is phosphorylated by ATM, indicating a potential role for this protein in DNA repair. This gene, which belongs to the SMC gene family, is located in an area of the X-chromosome that escapes X inactivation. Mutations in this gene result in Cornelia de Lange syndrome. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013]

Gene Information

Type

Protein coding

Genomic Location

Chromosome X:53374149-53422728

Strand

Reverse strand

Band

p11.22

Transcripts

ENST00000322213	ENSP00000323421
ENST00000375340	ENSP00000364489
ENST00000428014	ENSP00000413509
ENST00000470241	ENSP00000476416
ENST00000469129
ENST00000463684	ENSP00000476958

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 133 experimentally validated interaction(s) in this database.
They are also associated with 16 interaction(s) predicted by orthology.

Experimentally validated
Total	133 [view]
Protein-Protein	129 [view]
Protein-DNA	4 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	16 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003682	chromatin binding
GO:0003777	microtubule motor activity
GO:0005515	protein binding
GO:0005524	ATP binding
GO:0036033	mediator complex binding
GO:0044822	poly(A) RNA binding
GO:0046982	protein heterodimerization activity

Biological Process

GO:0000070	mitotic sister chromatid segregation
GO:0000278	mitotic cell cycle
GO:0000398	mRNA splicing, via spliceosome
GO:0006281	DNA repair
GO:0007052	mitotic spindle organization
GO:0007062	sister chromatid cohesion
GO:0007064	mitotic sister chromatid cohesion
GO:0007093	mitotic cell cycle checkpoint
GO:0007126	meiotic nuclear division
GO:0008380	RNA splicing
GO:0009314	response to radiation
GO:0010467	gene expression
GO:0019827	stem cell maintenance
GO:0032876	negative regulation of DNA endoreduplication
GO:0042770	signal transduction in response to DNA damage
GO:0051276	chromosome organization

Cellular Component

GO:0000775	chromosome, centromeric region
GO:0000776	kinetochore
GO:0000777	condensed chromosome kinetochore
GO:0000794	condensed nuclear chromosome
GO:0005634	nucleus
GO:0005654	nucleoplasm
GO:0005694	chromosome
GO:0005737	cytoplasm
GO:0005829	cytosol
GO:0008280	cohesin core heterodimer
GO:0030893	meiotic cohesin complex