SMC1A Gene
protein-coding GIFtS: 68
GCID: GC0XM053417
|
|
structural maintenance of chromosomes 1A(Previous names: SMC1 (structural maintenance of chromosomes 1, yeast)-like...)
(Previous symbol: SMC1L1)
| |
Aliases
for SMC1A gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Structural Maintenance Of Chromosomes 1A1 2 | | CDLS22 5 | | DXS423E1 2 3 5 | | Smcb1 | | SB1.81 2 3 | | SMC1 Structural Maintenance Of Chromosomes 1-Like 1 (Yeast)1 | | SMC1L11 2 3 | | SMC1alpha2 | | SMC12 3 5 | | SMCB2 | | SMC1 (Structural Maintenance Of Chromosomes 1, Yeast)-Like 11 2 | | Segregation Of Mitotic Chromosomes 12 | | KIAA01781 3 | | SMC1 Structural Maintenance Of Chromosomes 1-Like 12 | | SMC-1-Alpha1 | | Structural Maintenance Of Chromosomes Protein 1A2 | | SMC-1A2 3 | | Sb1.83 | | SMC Protein 1A2 3 | | |
Export aliases for SMC1A gene to outside databasesPrevious GC identifer: GC0XM050459 |
Summaries
for SMC1A gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for SMC1A:
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 twostructural maintenance of chromosomes (SMC) proteins, SMC3 and either SMC1L2 or the protein encoded by this gene. Mostof the cohesin complexes dissociate from the chromosomes before mitosis, although those complexes at the kinetochoreremain. 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 DNArepair. This gene, which belongs to the SMC gene family, is located in an area of the X-chromosome that escapes Xinactivation. (provided by RefSeq, Jul 2008)
UniProtKB/Swiss-Prot: SMC1A_HUMAN, Q14683Function: 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 complexapparently forms a large proteinaceous ring within which sister chromatids can be trapped. At anaphase, the complex iscleaved and dissociates from chromatin, allowing sister chromatids to segregate. The cohesin complex may also play arole in spindle pole assembly during mitosis. Involved in DNA repair via its interaction with BRCA1 and its relatedphosphorylation by ATM, or via its phosphorylation by ATR. Works as a downstream effector both in the ATM/NBS1 branchand in the ATR/MSH2 branch of S-phase checkpoint
Gene Wiki entry for SMC1A
|
Genomic Views
for SMC1A gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000023.10 NC_018934.1 NT_011630.14
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the SMC1A gene promoter:
NF-1 NF-1/L p53 Pax-6 FOXO3 E4BP4 FOXO3b HOXA5 FOXO3a
Other transcription factors
Search SABiosciences Chromatin IP Primers for SMC1A
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SMC1A |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: Xp11.22-p11.21 Ensembl cytogenetic band: Xp11.22 HGNC cytogenetic band: Xp11.22-p11.21SMC1A Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome X GeneLoc Exon Structure GeneLoc location for GC0XM053417: view genomic region
(about GC identifiers)
Start:
|
53,401,070 bp from pter |
End:
|
53,449,677 bp from pter |
Size:
|
48,608 bases |
Orientation:
|
minus strand |
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Proteins
for SMC1A gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: SMC1A_HUMAN, Q14683 (See
protein sequence)Recommended Name: Structural maintenance of chromosomes protein 1A Size: 1233 amino acids; 143233 Da
Subunit: Interacts with POLE. Interacts with SYCP2. Interacts with BRCA1. Found in a complex with CDCA5, SMC3 andRAD21, PDS5A/APRIN and PDS5B/SCC-112 (By similarity). Forms a heterodimer with SMC3 in cohesin complexes. Cohesincomplexes are composed of the SMC1 (SMC1A or SMC1B) and SMC3 heterodimer attached via their hinge domain, RAD21 whichlink 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 (Bysimilarity)
Subcellular location: Nucleus. Chromosome. Chromosome, centromere, kinetochore. Note=Associates with chromatin. Beforeprophase it is scattered along chromosome arms. During prophase, most of cohesin complexes dissociate from chromatinprobably because of phosphorylation by PLK, except at centromeres, where cohesin complexes remain. At anaphase, theRAD21 subunit of the cohesin complex is cleaved, leading to the dissociation of the complex from chromosomes, allowingchromosome separation. In germ cells, cohesin complex dissociates from chromatin at prophase I, and may be replaced bya meiosis-specific cohesin complex. The phosphorylated form on Ser-957 and Ser-966 associates with chromatin duringG1/S/G2 phases but not during M phase, suggesting that phosphorylation does not regulate cohesin function. Integralcomponent of the functional centromere-kinetochore complex at the kinetochore region during mitosis
Miscellaneous: Mutated Cornelia de Lange cell lines display genomic instability and sensitivity to ionizing radiationand interstrand cross-linking agents
Secondary accessions: O14995 Q16351 Q2M228Explore the universe of human proteins at neXtProt for SMC1A: NX_Q14683
Post-translational modifications:
Phosphorylated by ATM upon ionizing radiation in a NBS1-dependent manner. Phosphorylated by ATR upon DNA methylation ina MSH2/MSH6-dependent manner. Phosphorylation of Ser-957 and Ser-966 activates it and is required for S-phasecheckpoint activation1
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q14683
SMC1A Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_006297.2
ENSEMBL proteins: ENSP00000323421 ENSP00000413509 ENSP00000364489 Reactome Protein details: Q14683
Human Recombinant Protein Products for SMC1A:
Gene Ontology (GO): 5/10 cellular component terms (GO ID links to tree view) (see all 10): About this table
SMC1A for ontologies About GeneDecksing
SMC1A Antibody Products:
Assay Products for SMC1A: |
Protein
Domains /
Families
for SMC1A gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
SMC1A for domains About GeneDecksing
3 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry Q14683ProtoNet protein and cluster: Q14683 1 Blocks protein family: IPB010935 SMCs flexible hinge
UniProtKB/Swiss-Prot: SMC1A_HUMAN, Q14683Domain: The flexible hinge domain, which separates the large intramolecular coiled coil regions, allows the heterotypicinteraction with the corresponding domain of SMC3, forming a V-shaped heterodimer. The two heads of the heterodimerare then connected by different ends of the cleavable RAD21 protein, forming a ring structure (By similarity)Similarity: Belongs to the SMC family. SMC1 subfamily |
Function
for SMC1A gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
inGenious Targeting Laboratory,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase,
shRNA from
OriGene,
Sirion Biotech,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Sirion Biotech,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
Sirion Biotech,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Molecular Function:
UniProtKB/Swiss-Prot Summary: SMC1A_HUMAN, Q14683Function: 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 complexapparently forms a large proteinaceous ring within which sister chromatids can be trapped. At anaphase, the complex iscleaved and dissociates from chromatin, allowing sister chromatids to segregate. The cohesin complex may also play arole in spindle pole assembly during mitosis. Involved in DNA repair via its interaction with BRCA1 and its relatedphosphorylation by ATM, or via its phosphorylation by ATR. Works as a downstream effector both in the ATM/NBS1 branchand in the ATR/MSH2 branch of S-phase checkpoint Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6): About this table
SMC1A for ontologies About GeneDecksing
Phenotypes:
1 GenomeRNAi human phenotype for SMC1A:
4 MGI mutant phenotypes (inferred from 1 allele ) (MGI details for Smc1a):
SMC1A for phenotypes About GeneDecksing
Animal Models:
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for SMC1A (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for SMC1A
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: SMC1A (NM_006306) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for SMC1A | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SMC1A |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SMC1A |
|
Pathways & Interactions
for SMC1A gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Unified GeneCards pathways - 5/17 super-pathways (see all 17) About this table
See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | M Phase | | | 2 | mRNA Splicing - Major Pathway | | | 3 | Meiotic Synapsis | | | 4 | Cohesin Loading onto Chromatin | | | 5 | Resolution of Sister Chromatid Cohesion | |
Pathway sources
See GeneCards unified pathways
Show all pathways
2 EMD Millipore Pathways for SMC1A
3 
Cell Signaling Technology (CST) Pathways for SMC1A
2  GeneGo (Thomson Reuters) Pathways for SMC1A
3  BioSystems Pathways for SMC1A
5/25 
Reactome Pathways for SMC1A (see all 25)
2 
Kegg Pathways (Kegg details for SMC1A):
SMC1A for pathways About GeneDecksing
Interactions:
SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for SMC1A
STRING Interaction
Network Preview (showing 5 interactants - click image to see 25)
5/989 Interacting proteins for SMC1A (Q146831, 2, 3 ENSP000003234214) via UniProtKB, MINT, STRING, and/or I2D (see all 989)About this table
Gene Ontology (GO): 5/22 biological process terms (GO ID links to tree view) (see all 22): About this table
SMC1A for ontologies About GeneDecksing
|
Drugs & Compounds
for SMC1A gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
SMC1A for compounds About GeneDecksing
 Browse Tocris compounds for SMC1A
2 Novoseek chemical compound relationships for SMC1A gene About this table
| Compound |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| phosphatidylinositol |
14.1 |
1 |
11877376 (1) |
| doxorubicin |
13.5 |
3 |
15489221 (2) |
Search CenterWatch for drugs/clinical trials and news about SMC1A
|
Transcripts
for SMC1A gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
Sirion Biotech,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for SMC1A gene: NM_006306.2 Unigene Cluster for SMC1A: Structural maintenance of chromosomes 1A Hs.211602 [show with all ESTs]Unigene Representative Sequence: NM_0063066 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000322213(uc004dsg.3 uc011moe.2) ENST00000470241 ENST00000469129
ENST00000463684 ENST00000428014 ENST00000375340(uc011mof.2)
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for SMC1A (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for SMC1A
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: SMC1A (NM_006306) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for SMC1A | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SMC1A |
Additional cDNA sequence: AF176781.1 AK055575.1 AK056308.1 AK091458.1 AK291921.1 AK301266.1 BC064368.1 BC080185.1 BC112127.1 BC171726.1 BX640922.1 D80000.2 12 DOTS entries: DT.446814 DT.101976237 DT.95186644 DT.91683482 DT.100791702 DT.100791703 DT.121301618 DT.95222590 DT.97779204 DT.102823459 DT.95186643 DT.95186646 24/390 AceView cDNA sequences (see all 390): BM980693 AK056308 BQ218013 AA227772 AK055575 AW023370 BI060113 BM453659 AI784330 BX473660 AA608926 BM551132 CA391069 BQ423536 AA227771 BQ710591 BE782656 BC080185 NM_006306 AI690094 AU123923 BP378645 BF439483 CR624301
GeneLoc Exon Structure
5/7 Alternative Splicing Database (ASD) splice patterns (SP) for SMC1A (see all 7) About this scheme
| 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: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| ExUns: | 21 | ^ | 22a | · | 22b | ^ | 23a | · | 23b | ^ | 24 | ^ | 25a | · | 25b | ^ | 26a | · | 26b |
|---|
|
| SP1: | | | | | | | | | - | | | | - | | | | | | | | |
| SP2: | | | | | | | | | | | | | | | | | | | | | |
| SP3: | | | | | | | | | | | | | | | | | | | | | |
| SP4: | | | | | | | | | | | | | | | | | | | | | |
| SP5: | | | | | | | | | | | | | | | | | | | | |
ECgene alternative splicing isoforms for SMC1A
|
Expression
for SMC1A gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| SMC1A expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TTACTTAATG
About this image
See SMC1A Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for SMC1A
SOURCE GeneReport for Unigene cluster: Hs.211602
SABiosciences Expression via Pathway-Focused PCR Arrays including SMC1A:
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for SMC1A
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat SMC1A | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SMC1A | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SMC1A | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SMC1A |
Orthologs
for SMC1A gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of eukaryotes.
Orthologs for SMC1A gene from 9/42 species (see all 42) About this table
| Organism |
Taxonomic
classification |
Gene |
Description |
Human
Similarity |
Orthology
Type |
Details |
chicken
(Gallus gallus) |
Aves |
SMC1A1 |
structural maintenance of chromosomes 1A |
81.78(n)
94.57(a) |
|
395187 NM_204516.1 NP_989847.1 |
lizard
(Anolis carolinensis) |
Reptilia |
SMC1A6 |
-- |
94(a) |
1 ↔ 1 |
2(89342716-89352494) |
African clawed frog
(Xenopus laevis) |
Amphibia |
smc1l1-prov2 |
SMC-like 1 (yeast) |
83.09(n) |
|
BC046691.1 |
zebrafish
(Danio rerio) |
Actinopterygii |
Dr.247712 |
Danio rerio cDNA clone IMAGE6034135, partial cds |
79.13(n) |
|
BC055212.1 |
fruit fly
(Drosophila melanogaster) |
Insecta |
SMC11 |
CG6057-PA |
55.63(n)
49.75(a) |
|
42853 NM_142954.3 NP_651211.2 |
worm
(Caenorhabditis elegans) |
Secernentea |
him-11 |
Protein HIM-1 |
50.67(n)
43.08(a) |
|
172116 NM_001047193.3 NP_001040658.2 |
baker's yeast
(Saccharomyces cerevisiae) |
Saccharomycetes |
SMC1(YFL008W)4
SMC11 |
Subunit of the multiprotein cohesin complex, essential more4
Smc1p1 |
44.4(n)1
32.09(a)1 |
|
6(119429-123106)4
8505401, 4 NP_116647.11, 4 |
thale cress
(Arabidopsis thaliana) |
eudicotyledons |
TTN81 |
structural maintenance of chromosomes 1 |
49.65(n)
38.55(a) |
|
824632 NM_001203163.1 NP_001190092.1 |
rice
(Oryza sativa) |
Liliopsida |
Os.83352 |
Oryza sativa (japonica cultivar-group) cDNA cloneJ more |
75.67(n) |
|
AK120333.1 |
ENSEMBL Gene Tree for SMC1A (if available)
TreeFam Gene Tree for SMC1A (if available) |
Paralogs
for SMC1A gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for SMC1A gene
- SMC1B2
3 SIMAP similar genes for SMC1A using alignment to 6 protein entries: SMC1A_HUMAN (see all proteins):DKFZp686L19178 SMC1B SMC4
SMC1A for paralogs About GeneDecksing
|
Genomic Variants
for SMC1A gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr X pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for SMC1A (53401070 - 53449677 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for SMC1A
1 CNV: 23256
Human Gene Mutation Database (HGMD): SMC1A
Locus Specific Mutation Databases (LSDB): SMC1A
| SABiosciences Cancer Mutation PCR Assays |
| 1 SABiosciences qBiomarker Copy Number PCR Array containing SMC1A: |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing SMC1A |
|
Disorders
/ Diseases
for SMC1A gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database, Novoseek,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
SMC1A for disorders About GeneDecksing
OMIM gene information: 300040
OMIM disorders: 300590
UniProtKB/Swiss-Prot: SMC1A_HUMAN, Q14683
Defects in SMC1A are the cause of Cornelia de Lange syndrome type 2 (CDLS2) [MIM:300590]; also known asCornelia de Lange syndrome X-linked. CDLS is a clinically heterogeneous developmental disorder associated withmalformations affecting multiple systems. CDLS is characterized by facial dysmorphisms, abnormal hands and feet,growth delay, cognitive retardation and various other malformations including gastroesophageal dysfunction andcardiac, ophthalmologic and genitourinary anomalies
20/22  diseases for SMC1A (see all 22): About MalaCardscornelia de lange syndrome x inactivation sc phocomelia syndrome nijmegen breakage syndrome
ataxia telangiectasia roberts syndrome intellectual disability hypertrophic cardiomyopathy
acute myeloid leukemia retinitis pigmentosa myeloid leukemia ataxia
cardiomyopathy retinitis colorectal cancer leukemia
pneumonia hypoxia tuberculosis thyroiditis
3 diseases from the University of Copenhagen DISEASES database for SMC1A:Cornelia de Lange syndrome SC phocomelia syndrome Intellectual disability 2 Novoseek disease relationships for SMC1A gene About this table
| Disease |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| ataxia telangiectasia |
83.8 |
5 |
19147735 (2), 15752898 (1) |
| nijmegen breakage syndrome |
73.4 |
1 |
15752898 (1) |
GeneTests: SMC1A
Cornelia de Lange Syndrome
Human Genome Epidemiology (HuGE) Navigator: SMC1A (1 document)
Export disorders for SMC1A gene to outside databases
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Publications
for SMC1A gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
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PubMed articles for SMC1A gene, integrated from 9 sources (see all 143):
(articles sorted by number of sources associating them with SMC1A) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- The human SB1.8 gene (DXS423E) encodes a putative chromosome segregation protein conserved in lower eukaryotes and prokaryotes. (PubMed id 7757074)1, 2, 3, 9 Rocques P.J.... Cooper C.S. (1995)
- SMC1 is a downstream effector in the ATM/NBS1 branch of the human S- phase checkpoint. (PubMed id 11877377)1, 2, 9 Yazdi P.T.... Qin J. (2002)
- MSH2 and ATR form a signaling module and regulate two branches of the damage response to DNA methylation. (PubMed id 14657349)1, 2, 9 Wang Y. and Qin J. (2003)
- Mutations and variants in the cohesion factor genes N IPBL, SMC1A, and SMC3 in a cohort of 30 unrelated patients with Cornelia de Lan ge syndrome. (PubMed id 20358602)1, 2 PiAc J....Ramos F.J. (2010)
- Hypertrophic cardiomyopathy in a girl with Cornelia d e Lange syndrome due to mutation in SMC1A. (PubMed id 20635401)1, 2 Limongelli G....Larizza L. (2010)
- Cornelia de Lange syndrome mutations in SMC1A or SMC3 affect binding to DNA. (PubMed id 18996922)1, 2 Revenkova E....Musio A. (2009)
- SMC1A expression and mechanism of pathogenicity in probands with X- Linked Cornelia de Lange syndrome. (PubMed id 19701948)1, 2 Liu J.... Krantz I.D. (2009)
- Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of Cornelia de Lange syndrome with predominant mental retardation. (PubMed id 17273969)1, 2 Deardorff M.A....Krantz I.D. (2007)
- X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations. (PubMed id 16604071)1, 2 Musio A.... Larizza L. (2006)
- The DNA sequence of the human X chromosome. (PubMed id 15772651)1, 2 Ross M.T.... Bentley D.R. (2005)
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External Searches for SMC1A gene
(in PubMed,
OMIM, and NCBI Bookshelf)
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Genome Databases showing SMC1A gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
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Other Databases showing SMC1A gene
(According to HUGE)
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Specialized Databases showing SMC1A gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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| Name | Description |
| PharmGKB entry for SMC1A | Pharmacogenomics, SNPs, Pathways | | GeneReviews | http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SMC1A |
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| Patent Information for SMC1A gene:
Search GeneIP for patents involving SMC1A
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Products
for SMC1A gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory)
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