Atlas of Genetics and Cytogenetics in Oncology and Haematology


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SMC1A (structural maintenance of chromosomes 1A)

Identity

Other namesCDLS2
DXS423E
SB1.8
SMC1
SMC1L1
SMC1alpha
SMCB
HGNC (Hugo) SMC1A
LocusID (NCBI) 8243
Location Xp11.22
Location_base_pair Starts at 53401070 and ends at 53449677 bp from pter ( according to hg19-Feb_2009)
Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 

External links

Nomenclature
HGNC (Hugo)SMC1A   11111
Cards
Entrez_Gene (NCBI)SMC1A  8243  structural maintenance of chromosomes 1A
GeneCards (Weizmann)SMC1A
Ensembl (Hinxton)ENSG00000072501 [Gene_View]  chrX:53401070-53449677 [Contig_View]  SMC1A [Vega]
ICGC DataPortalENSG00000072501
cBioPortalSMC1A
AceView (NCBI)SMC1A
Genatlas (Paris)SMC1A
WikiGenes8243
SOURCE (Princeton)NM_001281463 NM_006306
Genomic and cartography
GoldenPath (UCSC)SMC1A  -  Xp11.22   chrX:53401070-53449677 -  Xp11.22   [Description]    (hg19-Feb_2009)
EnsemblSMC1A - Xp11.22 [CytoView]
Mapping of homologs : NCBISMC1A [Mapview]
OMIM300040   300590   
Gene and transcription
Genbank (Entrez)AF176781 AK055575 AK056308 AK091458 AK291921
RefSeq transcript (Entrez)NM_001281463 NM_006306
RefSeq genomic (Entrez)AC_000155 NC_000023 NC_018934 NG_006988 NT_011630 NW_001842369 NW_004929442
Consensus coding sequences : CCDS (NCBI)SMC1A
Cluster EST : UnigeneHs.211602 [ NCBI ]
CGAP (NCI)Hs.211602
Alternative Splicing : Fast-db (Paris)GSHG0032112
Alternative Splicing GalleryENSG00000072501
Gene ExpressionSMC1A [ NCBI-GEO ]     SMC1A [ SEEK ]   SMC1A [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ14683 (Uniprot)
NextProtQ14683  [Medical]
With graphics : InterProQ14683
Splice isoforms : SwissVarQ14683 (Swissvar)
Domains : Interpro (EBI)P-loop_NTPase [organisation]   RecF/RecN/SMC_N [organisation]   SMC [organisation]   SMC_hinge [organisation]  
Related proteins : CluSTrQ14683
Domain families : Pfam (Sanger)SMC_hinge (PF06470)    SMC_N (PF02463)   
Domain families : Pfam (NCBI)pfam06470    pfam02463   
Domain families : Smart (EMBL)SMC_hinge (SM00968)  
DMDM Disease mutations8243
Blocks (Seattle)Q14683
Human Protein AtlasENSG00000072501 [gene] [tissue] [antibody] [cell] [cancer]
Peptide AtlasQ14683
HPRD02077
IPIIPI00291939   IPI00922333   IPI00385082   IPI00553151   
Protein Interaction databases
DIP (DOE-UCLA)Q14683
IntAct (EBI)Q14683
FunCoupENSG00000072501
BioGRIDSMC1A
InParanoidQ14683
Interologous Interaction database Q14683
IntegromeDBSMC1A
STRING (EMBL)SMC1A
Ontologies - Pathways
Ontology : AmiGOmitotic sister chromatid segregation  mitotic cell cycle  mRNA splicing, via spliceosome  chromosome, centromeric region  kinetochore  condensed chromosome kinetochore  condensed nuclear chromosome  chromatin binding  microtubule motor activity  protein binding  ATP binding  nucleus  nucleoplasm  chromosome  nucleolus  cytoplasm  cytosol  DNA repair  mitotic spindle organization  sister chromatid cohesion  mitotic sister chromatid cohesion  mitotic cell cycle checkpoint  meiotic nuclear division  cohesin core heterodimer  RNA splicing  response to radiation  gene expression  stem cell maintenance  meiotic cohesin complex  negative regulation of DNA endoreduplication  mediator complex binding  signal transduction in response to DNA damage  poly(A) RNA binding  protein heterodimerization activity  
Ontology : EGO-EBImitotic sister chromatid segregation  mitotic cell cycle  mRNA splicing, via spliceosome  chromosome, centromeric region  kinetochore  condensed chromosome kinetochore  condensed nuclear chromosome  chromatin binding  microtubule motor activity  protein binding  ATP binding  nucleus  nucleoplasm  chromosome  nucleolus  cytoplasm  cytosol  DNA repair  mitotic spindle organization  sister chromatid cohesion  mitotic sister chromatid cohesion  mitotic cell cycle checkpoint  meiotic nuclear division  cohesin core heterodimer  RNA splicing  response to radiation  gene expression  stem cell maintenance  meiotic cohesin complex  negative regulation of DNA endoreduplication  mediator complex binding  signal transduction in response to DNA damage  poly(A) RNA binding  protein heterodimerization activity  
Pathways : KEGGCell cycle    Oocyte meiosis   
Protein Interaction DatabaseSMC1A
Wikipedia pathwaysSMC1A
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)SMC1A
snp3D : Map Gene to Disease8243
SNP (GeneSNP Utah)SMC1A
SNP : HGBaseSMC1A
Genetic variants : HAPMAPSMC1A
Exome VariantSMC1A
1000_GenomesSMC1A 
ICGC programENSG00000072501 
Somatic Mutations in Cancer : COSMICSMC1A 
CONAN: Copy Number AnalysisSMC1A 
Mutations and Diseases : HGMDSMC1A
Mutations and Diseases : intOGenSMC1A
Genomic VariantsSMC1A  SMC1A [DGVbeta]
dbVarSMC1A
ClinVarSMC1A
Pred. of missensesPolyPhen-2  SIFT(SG)  SIFT(JCVI)  Align-GVGD  MutAssessor  Mutanalyser  
Pred. splicesGeneSplicer  Human Splicing Finder  MaxEntScan  
Diseases
OMIM300040    300590   
MedgenSMC1A
GENETestsSMC1A
Disease Genetic AssociationSMC1A
Huge Navigator SMC1A [HugePedia]  SMC1A [HugeCancerGEM]
General knowledge
Homologs : HomoloGeneSMC1A
Homology/Alignments : Family Browser (UCSC)SMC1A
Phylogenetic Trees/Animal Genes : TreeFamSMC1A
Chemical/Protein Interactions : CTD8243
Chemical/Pharm GKB GenePA35961
Clinical trialSMC1A
Cancer Resource (Charite)ENSG00000072501
Other databases
Probes
Litterature
PubMed124 Pubmed reference(s) in Entrez
CoreMineSMC1A
iHOPSMC1A
OncoSearchSMC1A
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Mon Sep 22 19:19:12 CEST 2014

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