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Aliases for SMC1A Gene

Aliases for SMC1A Gene

  • Structural Maintenance Of Chromosomes 1A 2 3
  • DXS423E 3 4 6
  • SMC1 (Structural Maintenance Of Chromosomes 1, Yeast)-Like 1 2 3
  • SMC Protein 1A 3 4
  • SMC-1-Alpha 3 4
  • SMC1L1 3 4
  • SB1.8 3 4
  • SMC1 3 4
  • SMC1 Structural Maintenance Of Chromosomes 1-Like 1 (Yeast) 2
  • Structural Maintenance Of Chromosomes Protein 1A 3
  • Segregation Of Mitotic Chromosomes 1 3
  • SMC1alpha 3
  • KIAA0178 4
  • SMC-1A 4
  • CDLS2 3
  • SMCB 3

External Ids for SMC1A Gene

Previous HGNC Symbols for SMC1A Gene

  • SMC1L1

Previous GeneCards Identifiers for SMC1A Gene

  • GC0XM053417
  • GC0XM050459

Summaries for SMC1A Gene

Entrez Gene Summary for SMC1A Gene

  • 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]

GeneCards Summary for SMC1A Gene

SMC1A (Structural Maintenance Of Chromosomes 1A) is a Protein Coding gene. Diseases associated with SMC1A include cornelia de lange syndrome 2 and cornelia de lange syndrome. Among its related pathways are Cell Cycle, Mitotic and Cell Cycle, Mitotic. GO annotations related to this gene include protein heterodimerization activity and microtubule motor activity. An important paralog of this gene is SMC1B.

UniProtKB/Swiss-Prot for SMC1A Gene

  • Involved in chromosome cohesion during cell cycle and in DNA repair. Central component of cohesin complex. The cohesin complex is required for the cohesion of sister chromatids after DNA replication. The cohesin complex apparently forms a large proteinaceous ring within which sister chromatids can be trapped. At anaphase, the complex is cleaved and dissociates from chromatin, allowing sister chromatids to segregate. The cohesin complex may also play a role in spindle pole assembly during mitosis. Involved in DNA repair via its interaction with BRCA1 and its related phosphorylation by ATM, or via its phosphorylation by ATR. Works as a downstream effector both in the ATM/NBS1 branch and in the ATR/MSH2 branch of S-phase checkpoint.

Gene Wiki entry for SMC1A Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SMC1A Gene

Genomics for SMC1A Gene

Regulatory Elements for SMC1A Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for SMC1A Gene

Start:
53,374,149 bp from pter
End:
53,422,728 bp from pter
Size:
48,580 bases
Orientation:
Minus strand

Genomic View for SMC1A Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for SMC1A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SMC1A Gene

Proteins for SMC1A Gene

  • Protein details for SMC1A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q14683-SMC1A_HUMAN
    Recommended name:
    Structural maintenance of chromosomes protein 1A
    Protein Accession:
    Q14683
    Secondary Accessions:
    • O14995
    • Q16351
    • Q2M228

    Protein attributes for SMC1A Gene

    Size:
    1233 amino acids
    Molecular mass:
    143233 Da
    Quaternary structure:
    • Interacts with POLE. Interacts with SYCP2. Interacts with BRCA1. Found in a complex with CDCA5, SMC3 and RAD21, PDS5A/APRIN and PDS5B/SCC-112 (By similarity). Forms a heterodimer with SMC3 in cohesin complexes. Cohesin complexes are composed of the SMC1 (SMC1A or SMC1B) and SMC3 heterodimer attached via their hinge domain, RAD21 which link them, and one STAG protein (STAG1, STAG2 or STAG3), which interacts with RAD21. In germ cell cohesin complexes, SMC1A is mutually exclusive with SMC1B. Interacts with BRCA1. Interacts with NDC80. Interacts with RPGR (By similarity).
    Miscellaneous:
    • Mutated Cornelia de Lange cell lines display genomic instability and sensitivity to ionizing radiation and interstrand cross-linking agents

neXtProt entry for SMC1A Gene

Proteomics data for SMC1A Gene at MOPED

Post-translational modifications for SMC1A Gene

  • Phosphorylated by ATM upon ionizing radiation in a NBS1-dependent manner. Phosphorylated by ATR upon DNA methylation in a MSH2/MSH6-dependent manner. Phosphorylation of Ser-957 and Ser-966 activates it and is required for S-phase checkpoint activation.
  • Ubiquitination at Lys5, Lys13, Lys52, Lys106, Lys110, Lys170, Lys177, Lys500, Lys508, Lys536, Lys540, Lys561, Lys607, Lys637, Lys648, Lys660, Lys736, Lys1037, Lys1120, and Lys1222
  • Modification sites at PhosphoSitePlus

Other Protein References for SMC1A Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for SMC1A (Smc1)

No data available for DME Specific Peptides for SMC1A Gene

Domains for SMC1A Gene

Gene Families for SMC1A Gene

HGNC:
  • SMC :Structural maintenance of chromosomes proteins

Protein Domains for SMC1A Gene

Suggested Antigen Peptide Sequences for SMC1A Gene

Graphical View of Domain Structure for InterPro Entry

Q14683

UniProtKB/Swiss-Prot:

SMC1A_HUMAN :
  • Q14683
Domain:
  • The flexible hinge domain, which separates the large intramolecular coiled coil regions, allows the heterotypic interaction with the corresponding domain of SMC3, forming a V-shaped heterodimer. The two heads of the heterodimer are then connected by different ends of the cleavable RAD21 protein, forming a ring structure (By similarity).
Family:
  • Belongs to the SMC family. SMC1 subfamily.
genes like me logo Genes that share domains with SMC1A: view

Function for SMC1A Gene

Molecular function for SMC1A Gene

UniProtKB/Swiss-Prot Function: Involved in chromosome cohesion during cell cycle and in DNA repair. Central component of cohesin complex. The cohesin complex is required for the cohesion of sister chromatids after DNA replication. The cohesin complex apparently forms a large proteinaceous ring within which sister chromatids can be trapped. At anaphase, the complex is cleaved and dissociates from chromatin, allowing sister chromatids to segregate. The cohesin complex may also play a role in spindle pole assembly during mitosis. Involved in DNA repair via its interaction with BRCA1 and its related phosphorylation by ATM, or via its phosphorylation by ATR. Works as a downstream effector both in the ATM/NBS1 branch and in the ATR/MSH2 branch of S-phase checkpoint.

Gene Ontology (GO) - Molecular Function for SMC1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003682 chromatin binding IDA 11076961
GO:0003777 microtubule motor activity NAS 12199140
GO:0005515 protein binding IPI 11076961
GO:0005524 ATP binding IEA --
GO:0036033 mediator complex binding IEA --
genes like me logo Genes that share ontologies with SMC1A: view
genes like me logo Genes that share phenotypes with SMC1A: view

Animal Model Products

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for SMC1A

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for SMC1A Gene

Localization for SMC1A Gene

Subcellular locations from UniProtKB/Swiss-Prot for SMC1A Gene

Nucleus. Chromosome. Chromosome, centromere, kinetochore. Note=Associates with chromatin. Before prophase it is scattered along chromosome arms. During prophase, most of cohesin complexes dissociate from chromatin probably because of phosphorylation by PLK, except at centromeres, where cohesin complexes remain. At anaphase, the RAD21 subunit of the cohesin complex is cleaved, leading to the dissociation of the complex from chromosomes, allowing chromosome separation. In germ cells, cohesin complex dissociates from chromatin at prophase I, and may be replaced by a meiosis-specific cohesin complex. The phosphorylated form on Ser-957 and Ser-966 associates with chromatin during G1/S/G2 phases but not during M phase, suggesting that phosphorylation does not regulate cohesin function. Integral component of the functional centromere-kinetochore complex at the kinetochore region during mitosis.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SMC1A Gene COMPARTMENTS Subcellular localization image for SMC1A gene
Compartment Confidence
nucleus 5
cytosol 4

Gene Ontology (GO) - Cellular Components for SMC1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000775 chromosome, centromeric region TAS --
GO:0000776 kinetochore IDA 11682612
GO:0000777 condensed chromosome kinetochore IEA --
GO:0000794 condensed nuclear chromosome TAS 7757074
GO:0005634 nucleus IDA --
genes like me logo Genes that share ontologies with SMC1A: view

Pathways for SMC1A Gene

genes like me logo Genes that share pathways with SMC1A: view

Pathways by source for SMC1A Gene

2 Qiagen pathways for SMC1A Gene
3 Cell Signaling Technology pathways for SMC1A Gene
4 BioSystems pathways for SMC1A Gene
19 Reactome pathways for SMC1A Gene
2 KEGG pathways for SMC1A Gene

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Gene Ontology (GO) - Biological Process for SMC1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000070 mitotic sister chromatid segregation TAS 7757074
GO:0000278 mitotic cell cycle TAS --
GO:0000398 mRNA splicing, via spliceosome TAS --
GO:0006281 DNA repair TAS 11877377
GO:0007052 mitotic spindle organization TAS 12199140
genes like me logo Genes that share ontologies with SMC1A: view

Compounds for SMC1A Gene

(2) Novoseek inferred chemical compound relationships for SMC1A Gene

Compound -log(P) Hits PubMed IDs
phosphatidylinositol 14.1 1
doxorubicin 13.5 2
genes like me logo Genes that share compounds with SMC1A: view

Transcripts for SMC1A Gene

Unigene Clusters for SMC1A Gene

Structural maintenance of chromosomes 1A:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for SMC1A

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for SMC1A

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for SMC1A Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14a · 14b ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^
SP1: - - -
SP2:
SP3: - - - - -
SP4:
SP5:
SP6:
SP7:

ExUns: 21 ^ 22a · 22b ^ 23a · 23b ^ 24 ^ 25a · 25b ^ 26a · 26b
SP1: - -
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:

Relevant External Links for SMC1A Gene

GeneLoc Exon Structure for
SMC1A
ECgene alternative splicing isoforms for
SMC1A

Expression for SMC1A Gene

mRNA expression in normal human tissues for SMC1A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for SMC1A Gene

SOURCE GeneReport for Unigene cluster for SMC1A Gene Hs.211602

genes like me logo Genes that share expressions with SMC1A: view

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for SMC1A Gene

Orthologs for SMC1A Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for SMC1A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SMC1A 35
  • 99.75 (n)
  • 99.92 (a)
SMC1A 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SMC1A 35
  • 94.13 (n)
  • 99.84 (a)
SMC1A 36
  • 100 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SMC1A 35
  • 94.43 (n)
  • 99.92 (a)
SMC1A 36
  • 100 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Smc1a 35
  • 92.43 (n)
  • 99.84 (a)
Smc1a 16
Smc1a 36
  • 100 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 98 (a)
OneToMany
-- 36
  • 95 (a)
OneToMany
-- 36
  • 100 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Smc1a 35
  • 92.02 (n)
  • 99.59 (a)
chicken
(Gallus gallus)
Aves SMC1A 35
  • 81.72 (n)
  • 94.57 (a)
lizard
(Anolis carolinensis)
Reptilia SMC1A 36
  • 96 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia smc1l1-prov 35
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100493711 35
  • 80.65 (n)
  • 94.64 (a)
Str.197 35
zebrafish
(Danio rerio)
Actinopterygii Dr.24771 35
smc1a 36
  • 89 (a)
OneToMany
smc1al 35
  • 78.17 (n)
  • 90.18 (a)
smc1al 36
  • 90 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002947 35
  • 58.96 (n)
  • 51.36 (a)
fruit fly
(Drosophila melanogaster)
Insecta SMC1 35
  • 55.82 (n)
  • 50.17 (a)
SMC1 36
  • 48 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea C44C10.4 36
  • 25 (a)
ManyToMany
C44C10.5 36
  • 23 (a)
ManyToMany
him-1 35
  • 51.03 (n)
  • 43.45 (a)
him-1 36
  • 41 (a)
ManyToMany
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AGL023W 35
  • 46.75 (n)
  • 32.39 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SMC1 35
  • 45.84 (n)
  • 33.93 (a)
SMC1 36
  • 29 (a)
OneToMany
SMC1 38
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D07502g 35
  • 46.18 (n)
  • 34.42 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons TTN8 35
  • 49.84 (n)
  • 39.39 (a)
rice
(Oryza sativa)
Liliopsida Os.8335 35
Os12g0641500 35
  • 49.58 (n)
  • 37.35 (a)
wheat
(Triticum aestivum)
Liliopsida Ta.7619 35
bread mold
(Neurospora crassa)
Ascomycetes NCU01323 35
  • 49.43 (n)
  • 35.52 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes psm1 35
  • 46.41 (n)
  • 36.71 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5929 36
  • 53 (a)
OneToMany
Species with no ortholog for SMC1A:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for SMC1A Gene

ENSEMBL:
Gene Tree for SMC1A (if available)
TreeFam:
Gene Tree for SMC1A (if available)

Paralogs for SMC1A Gene

Paralogs for SMC1A Gene

Selected SIMAP similar genes for SMC1A Gene using alignment to 8 proteins:

genes like me logo Genes that share paralogs with SMC1A: view

Variants for SMC1A Gene

Sequence variations from dbSNP and Humsavar for SMC1A Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type MAF
rs1264008 -- 53,409,301(+) ACTCC(G/T)GCTGG intron-variant
rs1264009 -- 53,419,196(+) CCATA(A/G)AAACA intron-variant
rs1264010 -- 53,419,748(+) gaacc(C/T)gggag intron-variant
rs2071879 -- 53,414,687(+) AGATG(C/G)AGCAG intron-variant
rs2297104 Benign 53,403,898(+) CCTAC(A/G)GGCAA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SMC1A Gene

Variant ID Type Subtype PubMed ID
nsv435891 CNV Deletion 17901297
esv2740175 CNV Deletion 23290073
nsv6908 CNV Insertion 18451855

Relevant External Links for SMC1A Gene

HapMap Linkage Disequilibrium report
SMC1A
Human Gene Mutation Database (HGMD)
SMC1A
Locus Specific Mutation Databases (LSDB)
SMC1A

PCR Panel Products

  • Copy Number PCR Panels: for SMC1A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SMC1A Gene

Disorders for SMC1A Gene

(1) OMIM Diseases for SMC1A Gene (300040)

UniProtKB/Swiss-Prot

SMC1A_HUMAN
  • Cornelia de Lange syndrome 2 (CDLS2) [MIM:300590]: A form of Cornelia de Lange syndrome, a clinically heterogeneous developmental disorder associated with malformations affecting multiple systems. Characterized by facial dysmorphisms, abnormal hands and feet, growth delay, cognitive retardation, hirsutism, gastroesophageal dysfunction and cardiac, ophthalmologic and genitourinary anomalies. {ECO:0000269 PubMed:16604071, ECO:0000269 PubMed:17221863, ECO:0000269 PubMed:17273969, ECO:0000269 PubMed:19701948, ECO:0000269 PubMed:20358602, ECO:0000269 PubMed:20635401}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(3) University of Copenhagen DISEASES for SMC1A Gene

(2) Novoseek inferred disease relationships for SMC1A Gene

Disease -log(P) Hits PubMed IDs
ataxia telangiectasia 83.8 3
nijmegen breakage syndrome 73.4 1

Relevant External Links for SMC1A

GeneTests
SMC1A
GeneReviews
SMC1A
Genetic Association Database (GAD)
SMC1A
Human Genome Epidemiology (HuGE) Navigator
SMC1A
genes like me logo Genes that share disorders with SMC1A: view

Publications for SMC1A Gene

  1. The human SB1.8 gene (DXS423E) encodes a putative chromosome segregation protein conserved in lower eukaryotes and prokaryotes. (PMID: 7757074) Rocques P.J. … Cooper C.S. (Hum. Mol. Genet. 1995) 2 3 4 23
  2. SMC1 is a downstream effector in the ATM/NBS1 branch of the human S- phase checkpoint. (PMID: 11877377) Yazdi P.T. … Qin J. (Genes Dev. 2002) 3 4 23
  3. MSH2 and ATR form a signaling module and regulate two branches of the damage response to DNA methylation. (PMID: 14657349) Wang Y. … Qin J. (Proc. Natl. Acad. Sci. U.S.A. 2003) 3 4 23
  4. Mutations and variants in the cohesion factor genes NIPBL, SMC1A, and SMC3 in a cohort of 30 unrelated patients with Cornelia de Lange syndrome. (PMID: 20358602) Pie J. … Ramos F.J. (Am. J. Med. Genet. A 2010) 3 4 48
  5. SMC1A expression and mechanism of pathogenicity in probands with X- Linked Cornelia de Lange syndrome. (PMID: 19701948) Liu J. … Krantz I.D. (Hum. Mutat. 2009) 3 4

Products for SMC1A Gene

  • Addgene plasmids for SMC1A

Sources for SMC1A Gene

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