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Aliases for SMC1A Gene

Aliases for SMC1A Gene

  • Structural Maintenance Of Chromosomes 1A 2 3 5
  • SMC1 (Structural Maintenance Of Chromosomes 1, Yeast)-Like 1 2 3
  • SMC Protein 1A 3 4
  • SMC-1-Alpha 3 4
  • DXS423E 3 4
  • SMC1L1 3 4
  • SB1.8 3 4
  • SMC1 3 4
  • SMC1 Structural Maintenance Of Chromosomes 1-Like 1 (Yeast) 2
  • 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 Wiedemann-Steiner Syndrome. Among its related pathways are Mitotic Metaphase and Anaphase and RB in Cancer. GO annotations related to this gene include poly(A) RNA binding and chromatin binding. 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

Enhancers for SMC1A Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around SMC1A on UCSC Golden Path with GeneCards custom track

Promoters for SMC1A Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around SMC1A on UCSC Golden Path with GeneCards custom track

Genomic Location for SMC1A Gene

Chromosome:
X
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

Genes around SMC1A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SMC1A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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/SCC-112 and PDS5B/APRIN (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. Interacts with BRAT1.
    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 Lys 5, Lys 13, Lys 52, Lys 106, Lys 110, Lys 170, Lys 177, Lys 500, Lys 508, Lys 536, Lys 540, Lys 561, Lys 607, Lys 637, Lys 648, Lys 660, Lys 736, Lys 1037, Lys 1120, and Lys 1222
  • Modification sites at PhosphoSitePlus

Other Protein References for SMC1A Gene

No data available for DME Specific Peptides for SMC1A Gene

Domains & Families for SMC1A Gene

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 :
  • 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).
  • Belongs to the SMC family. SMC1 subfamily.
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 IEA,IDA 11076961
genes like me logo Genes that share ontologies with SMC1A: view
genes like me logo Genes that share phenotypes with SMC1A: view

Human Phenotype Ontology for SMC1A Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

miRNA for SMC1A Gene

miRTarBase miRNAs that target SMC1A

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets 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
cytosol 5
nucleus 5

Gene Ontology (GO) - Cellular Components for SMC1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IDA --
GO:0030893 meiotic cohesin complex IEA,IDA 21242291
genes like me logo Genes that share ontologies with SMC1A: view

Pathways & Interactions for SMC1A Gene

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

Pathways by source for SMC1A Gene

2 KEGG pathways for SMC1A Gene
2 Qiagen pathways for SMC1A Gene

SIGNOR curated interactions for SMC1A Gene

Is activated by:

Gene Ontology (GO) - Biological Process for SMC1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006281 DNA repair IEA,TAS 11877377
GO:0007062 sister chromatid cohesion IMP,TAS --
GO:0007064 mitotic sister chromatid cohesion IEA,TAS 12199140
GO:0007093 mitotic cell cycle checkpoint IDA 11877377
GO:0010467 gene expression TAS --
genes like me logo Genes that share ontologies with SMC1A: view

Drugs & Compounds for SMC1A Gene

(5) Drugs for SMC1A Gene - From: ApexBio and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
KPT-185 Pharma CRM1 inhibitor,selective and irrversible 0
KPT-276 Pharma 0
KPT-330 Pharma 0
Verdinexor (KPT-335) Pharma 0

(1) Additional Compounds for SMC1A Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(4) ApexBio Compounds for SMC1A Gene

Compound Action Cas Number
KPT-185 CRM1 inhibitor,selective and irrversible 1333151-73-7
KPT-276 1421919-75-6
KPT-330 1393477-72-9
Verdinexor (KPT-335) 1392136-43-4
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:

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

Protein differential expression in normal tissues from HIPED for SMC1A Gene

This gene is overexpressed in Lymph node (16.3) and Peripheral blood mononuclear cells (9.9).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with SMC1A: view

Protein tissue co-expression partners for SMC1A Gene

- Elite partner

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , 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
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
chimpanzee
(Pan troglodytes)
Mammalia SMC1A 35
  • 99.75 (n)
  • 99.92 (a)
SMC1A 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Smc1a 35
  • 92.02 (n)
  • 99.59 (a)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 98 (a)
OneToMany
-- 36
  • 95 (a)
OneToMany
-- 36
  • 100 (a)
OneToMany
chicken
(Gallus gallus)
Aves SMC1A 35
  • 81.72 (n)
  • 94.57 (a)
lizard
(Anolis carolinensis)
Reptilia SMC1A 36
  • 96 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100493711 35
  • 80.65 (n)
  • 94.64 (a)
Str.197 35
African clawed frog
(Xenopus laevis)
Amphibia smc1l1-prov 35
zebrafish
(Danio rerio)
Actinopterygii Dr.24771 35
smc1al 35
  • 78.17 (n)
  • 90.18 (a)
smc1a 36
  • 89 (a)
OneToMany
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 him-1 35
  • 51.03 (n)
  • 43.45 (a)
C44C10.4 36
  • 25 (a)
ManyToMany
C44C10.5 36
  • 23 (a)
ManyToMany
him-1 36
  • 41 (a)
ManyToMany
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AGL023W 35
  • 46.75 (n)
  • 32.39 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D07502g 35
  • 46.18 (n)
  • 34.42 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SMC1 35
  • 45.84 (n)
  • 33.93 (a)
SMC1 36
  • 29 (a)
OneToMany
SMC1 38
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

(3) 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
VAR_026529 Cornelia de Lange syndrome 2 (CDLS2)
VAR_052438 -
VAR_062786 Cornelia de Lange syndrome 2 (CDLS2)
VAR_062787 Cornelia de Lange syndrome 2 (CDLS2)
VAR_062788 Cornelia de Lange syndrome 2 (CDLS2)

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

Variation tolerance for SMC1A Gene

Residual Variation Intolerance Score: 2.22% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.15; 3.32% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SMC1A Gene

Human Gene Mutation Database (HGMD)
SMC1A

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

Disorders for SMC1A Gene

MalaCards: The human disease database

(7) MalaCards diseases for SMC1A Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
cornelia de lange syndrome 2
  • cornelia de lange syndrome x-linked
wiedemann-steiner syndrome
  • weaver syndrome
cornelia de lange syndrome
  • brachmann de lange syndrome
smc1a-related cornelia de lange syndrome
  • cornelia de lange syndrome 2
sc phocomelia syndrome
  • hypomelia hypotrichosis facial hemangioma syndrome
- elite association - COSMIC cancer census association via MalaCards
Search SMC1A in MalaCards View complete list of genes associated with diseases

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.

Relevant External Links for SMC1A

Genetic Association Database (GAD)
SMC1A
Human Genome Epidemiology (HuGE) Navigator
SMC1A
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SMC1A
genes like me logo Genes that share disorders with SMC1A: view

No data available for Genatlas for SMC1A Gene

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 67
  2. Lampbrush chromosomes enable study of cohesin dynamics. (PMID: 19308699) Austin C. … Bellini M. (Chromosome Res. 2009) 3 23
  3. PTIP regulates 53BP1 and SMC1 at the DNA damage sites. (PMID: 19414588) Wu J. … Yu X. (J. Biol. Chem. 2009) 3 23
  4. NBS1 prevents chromatid-type aberrations through ATM-dependent interactions with SMC1. (PMID: 18763866) Antoccia A. … Komatsu K. (Radiat. Res. 2008) 3 23
  5. SMC1 inhibition results in FRA3B expression but has no effect on its delayed replication. (PMID: 16242161) Focarelli M.L. … Musio A. (Mutat. Res. 2006) 3 23

Products for SMC1A Gene

Sources for SMC1A Gene

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