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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
  • 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 Wiedemann-Steiner Syndrome. Among its related pathways are DNA Damage and Cell Cycle, Mitotic. 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

Additional gene information for SMC1A Gene

No data available for CIViC summary , 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 Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH0XH054042 1.1 ENCODE 35.4 -621.7 -621664 3.8 PKNOX1 FOXA2 ARNT SIN3A FEZF1 DMAP1 ZNF2 YY1 ZNF766 ZNF143 KDM5C PHF8 ACTG1P10 SMC1A ENSG00000233250 TSPYL2 APEX2 GPR173 KANTR MAGED2
GH0XH052994 1.3 ENCODE dbSUPER 23.3 +427.4 427354 2.6 PKNOX1 ATF1 ARNT ARID4B SIN3A FEZF1 BRCA1 YY1 ZNF143 ZNF207 FAM156A SMC1A KDM5C FAM156B ENSG00000233250 ACTG1P10 KDM5C-IT1 HUWE1 GC0XP052962
GH0XH053420 1.1 ENCODE 14.8 +0.4 398 2.8 HDGF PKNOX1 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF207 ZNF143 ZNF548 TSPYL2 GPR173 SMC1A RPSAP62 XAGE1A XAGE1B SSX7 SSXP5 RPL7AP71 ACTG1P10
GH0XH053374 1.2 Ensembl ENCODE 12.2 +48.1 48060 1.3 HDGF ATF1 ARNT TCF12 GLIS2 GATA2 ATF7 CAVIN1 NCOA1 SMARCB1 IQSEC2 ENSG00000207408 RPSAP62 RIBC1 SMC1A HSD17B10 ENSG00000233250 PIR40105 LOC101060056
GH0XH053071 1.3 Ensembl ENCODE 9.9 +350.3 350293 2.4 HDGF ARID4B SIN3A FEZF1 ZNF2 ZNF121 GLIS2 ZNF143 KLF7 ZNF202 TSPYL2 FAM156B ACTG1P10 PHF8 ENSG00000233250 KANTR KDM5C HUWE1 SMC1A GC0XP053079
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

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
ENSR00000246701 228 1801 HDGF PKNOX1 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF207 ZNF143 ZNF548

Genomic Locations for SMC1A Gene

Genomic Locations for SMC1A Gene
chrX:53,374,149-53,422,728
(GRCh38/hg38)
Size:
48,580 bases
Orientation:
Minus strand
chrX:53,401,070-53,449,677
(GRCh37/hg19)

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

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 isoforms=5, Lys13, Lys52, isoforms=106, isoforms=110, Lys170, Lys177, Lys500, isoforms=508, isoforms=536, Lys540, isoforms=561, Lys607, Lys637, isoforms=648, Lys660, Lys736, isoforms=1037, 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 & Families for SMC1A Gene

Gene Families for SMC1A Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular 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 :
  • 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:0000166 nucleotide binding IEA --
GO:0003682 chromatin binding IDA,IEA 11076961
GO:0003723 RNA binding IDA 22681889
GO:0005515 protein binding IPI 11076961
GO:0005524 ATP binding IEA --
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

miRNA for SMC1A Gene

miRTarBase miRNAs that target SMC1A

Clone Products

  • Addgene plasmids for SMC1A

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SMC1A gene
Compartment Confidence
nucleus 5
cytosol 5

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (4)
  • Cytosol (1)
See all subcellular structures

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,IEA 11682612
GO:0000777 condensed chromosome kinetochore IEA --
GO:0000794 condensed nuclear chromosome TAS 7757074
GO:0005634 nucleus IDA,IEA 11076961
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

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:0000070 mitotic sister chromatid segregation TAS 7757074
GO:0006281 DNA repair TAS,IEA 11877377
GO:0006974 cellular response to DNA damage stimulus IEA --
GO:0007049 cell cycle IEA --
GO:0007052 mitotic spindle organization 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

Drug Products

Transcripts for SMC1A Gene

Unigene Clusters for SMC1A Gene

Structural maintenance of chromosomes 1A:
Representative Sequences:

Clone Products

  • Addgene plasmids for SMC1A

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for SMC1A Gene



Protein tissue co-expression partners for SMC1A Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SMC1A Gene:

SMC1A

SOURCE GeneReport for Unigene cluster for SMC1A Gene:

Hs.211602

Evidence on tissue expression from TISSUES for SMC1A Gene

  • Nervous system(4.7)
  • Liver(4.6)
  • Bone marrow(4.2)
  • Heart(3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for SMC1A Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • inner ear
  • jaw
  • larynx
  • lip
  • mandible
  • maxilla
  • middle ear
  • mouth
  • neck
  • nose
  • outer ear
  • pharynx
  • scalp
  • skull
  • tooth
  • vocal cord
Thorax:
  • breast
  • chest wall
  • clavicle
  • diaphragm
  • esophagus
  • heart
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • abdominal wall
  • intestine
  • kidney
  • large intestine
  • liver
  • small intestine
  • stomach
Pelvis:
  • pelvis
  • penis
  • testicle
  • ureter
  • urethra
  • urinary bladder
  • uterus
  • vulva
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • coagulation system
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with SMC1A: view

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
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 100 (a)
OneToMany
-- 34
  • 98 (a)
OneToMany
-- 34
  • 95 (a)
OneToMany
chimpanzee
(Pan troglodytes)
Mammalia SMC1A 33 34
  • 99.75 (n)
dog
(Canis familiaris)
Mammalia SMC1A 33 34
  • 94.43 (n)
cow
(Bos Taurus)
Mammalia SMC1A 33 34
  • 94.13 (n)
mouse
(Mus musculus)
Mammalia Smc1a 33 16 34
  • 92.43 (n)
rat
(Rattus norvegicus)
Mammalia Smc1a 33
  • 92.02 (n)
chicken
(Gallus gallus)
Aves SMC1A 33
  • 81.72 (n)
lizard
(Anolis carolinensis)
Reptilia SMC1A 34
  • 96 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100493711 33
  • 80.65 (n)
Str.197 33
African clawed frog
(Xenopus laevis)
Amphibia smc1l1-prov 33
zebrafish
(Danio rerio)
Actinopterygii smc1a 34
  • 89 (a)
OneToMany
smc1al 33 34
  • 78.17 (n)
Dr.24771 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002947 33
  • 58.96 (n)
fruit fly
(Drosophila melanogaster)
Insecta SMC1 33 34
  • 55.82 (n)
worm
(Caenorhabditis elegans)
Secernentea him-1 33 34
  • 51.03 (n)
C44C10.4 34
  • 25 (a)
ManyToMany
C44C10.5 34
  • 23 (a)
ManyToMany
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AGL023W 33
  • 46.75 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D07502g 33
  • 46.18 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SMC1 33 34 36
  • 45.84 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons TTN8 33
  • 49.84 (n)
rice
(Oryza sativa)
Liliopsida Os12g0641500 33
  • 49.58 (n)
Os.8335 33
wheat
(Triticum aestivum)
Liliopsida Ta.7619 33
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5929 34
  • 53 (a)
OneToMany
bread mold
(Neurospora crassa)
Ascomycetes NCU01323 33
  • 49.43 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes psm1 33
  • 46.41 (n)
Species where no ortholog for SMC1A was found in the sources mined by GeneCards:
  • 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
rs122454122 Pathogenic, Cornelia de Lange syndrome 2 (CDLS2) [MIM:300590] 53,409,129(-) CCAGG(A/C)GAGCA reference, missense
rs122454123 Pathogenic, Cornelia de Lange syndrome 2 (CDLS2) [MIM:300590] 53,409,120(-) CAGCC(A/G)CCAGC reference, missense
rs387906702 other, Cornelia de Lange syndrome 2 (CDLS2) [MIM:300590] 53,403,635(-) GGAGA(C/T)TGGTG reference, missense
rs587784403 Pathogenic, Cornelia de Lange syndrome 2 (CDLS2) [MIM:300590] 53,411,822(-) CAATC(A/G)AGACC reference, missense
rs587784408 Likely pathogenic, Cornelia de Lange syndrome 2 (CDLS2) [MIM:300590] 53,405,130(-) AAAAC(A/G)GAAAG reference, missense

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

Variant ID Type Subtype PubMed ID
nsv6908 CNV insertion 18451855
nsv435891 CNV deletion 17901297
esv3558884 CNV deletion 23714750
esv2740175 CNV deletion 23290073

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
SNPedia medical, phenotypic, and genealogical associations of SNPs for
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: HGMD, 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
  • wss
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:18996922, ECO:0000269 PubMed:19701948, ECO:0000269 PubMed:20358602, ECO:0000269 PubMed:20635401, ECO:0000269 PubMed:24124034}. 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 PJ … Cooper CS (Human molecular genetics 1995) 2 3 4 22 60
  2. 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) Pié J … Ramos FJ (American journal of medical genetics. Part A 2010) 3 4 45 60
  3. Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of cornelia de Lange syndrome with predominant mental retardation. (PMID: 17273969) Deardorff MA … Krantz ID (American journal of human genetics 2007) 2 3 4 60
  4. MSH2 and ATR form a signaling module and regulate two branches of the damage response to DNA methylation. (PMID: 14657349) Wang Y … Qin J (Proceedings of the National Academy of Sciences of the United States of America 2003) 3 4 22 60
  5. SMC1 is a downstream effector in the ATM/NBS1 branch of the human S-phase checkpoint. (PMID: 11877377) Yazdi PT … Qin J (Genes & development 2002) 3 4 22 60

Products for SMC1A Gene

  • Addgene plasmids for SMC1A

Sources for SMC1A Gene

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