Version 5.4
Mus musculus Gene: Smc1a
Summary
InnateDB Gene IDBG-179955.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol Smc1a
Gene Name structural maintenance of chromosomes 1A
Synonyms 5830426I24Rik; mKIAA0178; Sb1.8; SMC-1A; Smc1; Smc1alpha; Smc1l1; Smcb
Species Mus musculus
Ensembl Gene ENSMUSG00000041133
Encoded Proteins
IDBP-179957
structural maintenance of chromosomes 1A
IDBP-788999
structural maintenance of chromosomes 1A
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene does not have any Entrez summary - the following is the summary from its human ortholog ENSG00000072501:
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:152016428-152062694
Strand Forward strand
Band F3
Transcripts
ENSMUST00000045312 ENSMUSP00000044645
ENSMUST00000145518 ENSMUSP00000138113
ENSMUST00000135172
ENSMUST00000131395
ENSMUST00000124681
ENSMUST00000141457
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 30 experimentally validated interaction(s) in this database.
They are also associated with 87 interaction(s) predicted by orthology.
Experimentally validated
Total 30 [view]
Protein-Protein 30 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 87 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0003682 chromatin binding
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:0006281 DNA repair
GO:0007062 sister chromatid cohesion
GO:0007067 mitotic nuclear division
GO:0007093 mitotic cell cycle checkpoint
GO:0007126 meiotic nuclear division
GO:0009314 response to radiation
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:0000776 kinetochore
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005694 chromosome
GO:0005737 cytoplasm
GO:0030893 meiotic cohesin complex
Orthologs
Species
Homo sapiens
Bos taurus
Gene ID
Gene Order
ENSG00000072501
View Gene Order
ENSBTAG00000017761
Not yet available
Pathways
NETPATH
REACTOME
REACT_75800
Meiotic Synapsis pathway
REACT_200794
Mus musculus biological processes pathway
REACT_249770
Cell Cycle, Mitotic pathway
REACT_207679
Separation of Sister Chromatids pathway
REACT_249110
mRNA Splicing pathway
REACT_198961
Resolution of Sister Chromatid Cohesion pathway
REACT_198626
Meiotic synapsis pathway
REACT_188804
Cell Cycle pathway
REACT_241408
M Phase pathway
REACT_250427
Mitotic Telophase/Cytokinesis pathway
REACT_199403
Mitotic Metaphase and Anaphase pathway
REACT_256756
Mitotic Prometaphase pathway
REACT_196634
Cohesin Loading onto Chromatin pathway
REACT_233572
Gene Expression pathway
REACT_260226
mRNA Splicing - Major Pathway pathway
REACT_196614
Establishment of Sister Chromatid Cohesion pathway
REACT_198624
Meiosis pathway
REACT_233950
Processing of Capped Intron-Containing Pre-mRNA pathway
REACT_202512
Mitotic Anaphase pathway
REACT_253623
S Phase pathway
KEGG
mmu04110
Cell cycle pathway
mmu04114
Oocyte meiosis pathway
INOH
PID NCI
Pathway Predictions based on Human Orthology Data
NETPATH
REACTOME
REACT_75792
Meiotic synapsis pathway
REACT_150425
Resolution of Sister Chromatid Cohesion pathway
REACT_682
Mitotic Prometaphase pathway
REACT_150471
Separation of Sister Chromatids pathway
REACT_150421
Cohesin Loading onto Chromatin pathway
REACT_1932
Mitotic Telophase/Cytokinesis pathway
REACT_150266
Establishment of Sister Chromatid Cohesion pathway
REACT_467
mRNA Splicing - Major Pathway pathway
REACT_125
Processing of Capped Intron-Containing Pre-mRNA pathway
REACT_899
S Phase pathway
REACT_115566
Cell Cycle pathway
REACT_910
M Phase pathway
REACT_1275
Mitotic Anaphase pathway
REACT_152
Cell Cycle, Mitotic pathway
REACT_1735
mRNA Splicing pathway
REACT_111183
Meiosis pathway
REACT_71
Gene Expression pathway
REACT_150314
Mitotic Metaphase and Anaphase pathway
REACT_225014
S Phase pathway
REACT_205948
mRNA Splicing - Major Pathway pathway
REACT_206725
mRNA Splicing pathway
REACT_208268
Cohesin Loading onto Chromatin pathway
REACT_211829
Meiotic synapsis pathway
REACT_217021
Mitotic Telophase/Cytokinesis pathway
REACT_216366
M Phase pathway
REACT_212887
Separation of Sister Chromatids pathway
REACT_222447
Meiosis pathway
REACT_215084
Mitotic Metaphase and Anaphase pathway
REACT_211185
Mitotic Anaphase pathway
REACT_226022
Gene Expression pathway
REACT_215505
Cell Cycle, Mitotic pathway
REACT_226302
Processing of Capped Intron-Containing Pre-mRNA pathway
REACT_214934
Cell Cycle pathway
REACT_207608
Establishment of Sister Chromatid Cohesion pathway
REACT_209545
Resolution of Sister Chromatid Cohesion pathway
REACT_203101
Mitotic Prometaphase pathway
KEGG
hsa04110
Cell cycle pathway
hsa04114
Oocyte meiosis pathway
INOH
PID NCI
atm_pathway
ATM pathway
Cross-References
SwissProt Q9CU62
TrEMBL Q6A0B0 Q7TNG4 S4R179
UniProt Splice Variant
Entrez Gene 24061
UniGene Mm.482095
RefSeq NM_019710 XM_006528840
OMIM
CCDS CCDS30473
HPRD
IMGT
MGI ID MGI:1344345
MGI Symbol Smc1a
EMBL AF047600 AK007334 AK013648 AK017948 AK088183 AK172908 AL672180 BC055477 BC131667
GenPept AAD27753 AAH55477 AAI31668 BAB28937 BAB31016 BAC40193 BAD32186 BAE43202 CAM23830
RNA Seq Atlas 24061

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca