SMC1A

GENE INFORMATION

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Gene name

SMC1A (HGNC Symbol)

Synonyms

DXS423E, KIAA0178, SB1.8, SMC1L1, Smcb

Description

Structural maintenance of chromosomes 1A (HGNC Symbol)

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 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]

Chromosome

X

Cytoband

p11.22

Chromosome location (bp)

53374149 - 53422728

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000072501 (version 78.38)

Entrez gene

8243

UniProt

Q14683 (UniProt - Evidence at protein level)

neXtProt

NX_Q14683

Antibodypedia

SMC1A antibodies
 

PROTEIN VIEW

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SMC1A-001
 
SMC1A-003
 
SMC1A-005
 
SMC1A-201
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

SMC1A-001 ENSP00000323421
ENST00000322213
Q14683
Show all »
Show » Show » 1233 143.2 No 0
SMC1A-003 ENSP00000413509
ENST00000428014
H0Y7K8
Show all »
Show » Show » 262 30.5 No 0
SMC1A-005 ENSP00000476416
ENST00000470241
Show » 279 31.4 No 0
SMC1A-201 ENSP00000364489
ENST00000375340
H0Y7K8
Show all »
Show » Show » 1211 140.9 No 0