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Gene: SMC1A (structural maintenance of chromosomes 1A) Homo sapiens
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Symbol: SMC1A
Name: structural maintenance of chromosomes 1A
Description: 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]
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: CDLS2; DKFZp686L19178; DXS423E; KIAA0178; MGC138332; SB1.8; segregation of mitotic chromosomes 1; SMC protein 1A; SMC-1-alpha; SMC-1A; smc-like 1 (yeast); SMC1; SMC1 (structural maintenance of chromosomes 1, yeast)-like 1; SMC1 structural maintenance of chromosomes 1-like 1; SMC1alpha; SMC1L1; SMCB; structural maintenance of chromosomes protein 1A
Orthologs:
Mus musculus (house mouse) : Smc1a (structural maintenance of chromosomes 1A)  MGI  Alliance
Rattus norvegicus (Norway rat) : Smc1a (structural maintenance of chromosomes 1A)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Smc1a (structural maintenance of chromosomes 1A)
Pan paniscus (bonobo/pygmy chimpanzee) : SMC1A (structural maintenance of chromosomes 1A)
Canis lupus familiaris (dog) : SMC1A (structural maintenance of chromosomes 1A)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Smc1a (structural maintenance of chromosomes 1A)
Sus scrofa (pig) : SMC1A (structural maintenance of chromosomes 1A)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38X53,374,149 - 53,422,728 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X53,401,070 - 53,449,677 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X53,417,795 - 53,466,343 (-)NCBINCBI36hg18NCBI36
Build 34X53,284,090 - 53,332,639NCBI
CeleraX57,232,626 - 57,281,175 (-)NCBI
Cytogenetic MapXp11.22NCBI
HuRefX50,459,360 - 50,507,305 (-)NCBIHuRef
CHM1_1X53,391,525 - 53,440,144 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
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Genomics

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Sequence

Nucleotide Sequences
Protein Sequences
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Additional Information

External Database Links
 
More on SMC1A
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

CRRD Object Information
CRRD ID: 737070
Created: 2004-02-06
Species: Homo sapiens
Last Modified: 2019-08-06
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.