QuickView for SMC1A (gene)

Gene Symbol:

SMC1A Homo sapiens

Full name:

structural maintenance of chromosomes 1A

Synonyms:

CDLS2, DXS423E, SB1.8, SMC1, SMC1L1, SMC1alpha, SMCB, structural maintenance of chromosomes protein 1A, SMC protein 1A, SMC-1-alpha, SMC1 (structural maintenance of chromosomes 1, yeast)-like 1, segregation of mitotic chromosomes 1

Genomic Location:

Chr X: 53417795-53466343

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. Mo...

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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.

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Orthologs:

Mus musculus ,  Rattus norvegicus ,  D. melanogaster ,  C. elegans ,  Saccharomyces cerevisiae ,  Macaca mulatta ,  Schizosaccharomyces pombe ,  Bos taurus ,  Gallus gallus ,  Pan troglodytes ,  Canis lupus familiaris ,  Danio rerio

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

TGGAAA_NFAT_Q4_01 ,  CCCACAT_MIR2993P ,  AAGCCAT_MIR135A_MIR135B ,  E2F1_Q4_01 ,  TTTTGAG_MIR373 ,  E2F4DP1_01 ,  TMTCGCGANR_UNKNOWN ,  E2F_Q6_01 ,  AAGCAAT_MIR137 ,  E2F1_Q4 ,  GGGAGGRR_MAZ_Q6 ,  TCTAGAG_MIR517 ,  GCTTGAA_MIR498 ,  E2F_Q6 ,  E2F1_Q6_01 ,  E2F_Q4 ,  YGCANTGCR_UNKNOWN ,  E2F1DP2_01 ,  E2F_03 ,  E2F1DP1_01 ,  E2F_Q4_01 ,  E2F_02 ,  CTCTAGA_MIR526C_MIR518F_MIR526A ,  E2F4DP2_01 ,  AAAGGAT_MIR501 ,  E2F_Q3 ,  E2F_Q3_01 ,  E2F1_Q6 ,  AAGCACA_MIR218 ,  SGCGSSAAA_E2F1DP2_01 ,  STAT5A_02

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miRNA binding sites
(Source: miRecords):

hsa-let-7e Targeted Genes

Cytogenetic Map:

Xp11.22

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