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SMC1B (structural maintenance of chromosomes 1B)

Identity

Alias_namesSMC1L2
SMC1 (structural maintenance of chromosomes 1, yeast)-like 1
SMC1 structural maintenance of chromosomes 1-like 2 (yeast)
Alias_symbol (synonym)bK268H5
Other aliasSMC1BETA
HGNC (Hugo) SMC1B
LocusID (NCBI) 27127
Atlas_Id 52466
Location 22q13.31  [Link to chromosome band 22q13]
Location_base_pair Starts at 45739945 and ends at 45809500 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
KPNA1 (3q21.1) / SMC1B (22q13.31)KPNA1 3q21.1 / SMC1B 22q13.31

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)SMC1B   11112
Cards
Entrez_Gene (NCBI)SMC1B  27127  structural maintenance of chromosomes 1B
AliasesSMC1BETA; SMC1L2
GeneCards (Weizmann)SMC1B
Ensembl hg19 (Hinxton)ENSG00000077935 [Gene_View]  chr22:45739945-45809500 [Contig_View]  SMC1B [Vega]
Ensembl hg38 (Hinxton)ENSG00000077935 [Gene_View]  chr22:45739945-45809500 [Contig_View]  SMC1B [Vega]
ICGC DataPortalENSG00000077935
TCGA cBioPortalSMC1B
AceView (NCBI)SMC1B
Genatlas (Paris)SMC1B
WikiGenes27127
SOURCE (Princeton)SMC1B
Genetics Home Reference (NIH)SMC1B
Genomic and cartography
GoldenPath hg19 (UCSC)SMC1B  -     chr22:45739945-45809500 -  22q13.31   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)SMC1B  -     22q13.31   [Description]    (hg38-Dec_2013)
EnsemblSMC1B - 22q13.31 [CytoView hg19]  SMC1B - 22q13.31 [CytoView hg38]
Mapping of homologs : NCBISMC1B [Mapview hg19]  SMC1B [Mapview hg38]
OMIM608685   
Gene and transcription
Genbank (Entrez)AJ504806 AK125736 AL704843 BC126208 BG194018
RefSeq transcript (Entrez)NM_001291501 NM_148674
RefSeq genomic (Entrez)NC_000022 NC_018933 NT_011520 NW_004929430
Consensus coding sequences : CCDS (NCBI)SMC1B
Cluster EST : UnigeneHs.334176 [ NCBI ]
CGAP (NCI)Hs.334176
Alternative Splicing GalleryENSG00000077935
Gene ExpressionSMC1B [ NCBI-GEO ]   SMC1B [ EBI - ARRAY_EXPRESS ]   SMC1B [ SEEK ]   SMC1B [ MEM ]
Gene Expression Viewer (FireBrowse)SMC1B [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)27127
GTEX Portal (Tissue expression)SMC1B
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8NDV3   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8NDV3  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8NDV3
Splice isoforms : SwissVarQ8NDV3
PhosPhoSitePlusQ8NDV3
Domains : Interpro (EBI)P-loop_NTPase    RecF/RecN/SMC_N    SMC    SMC_hinge   
Domain families : Pfam (Sanger)SMC_hinge (PF06470)    SMC_N (PF02463)   
Domain families : Pfam (NCBI)pfam06470    pfam02463   
Domain families : Smart (EMBL)SMC_hinge (SM00968)  
Conserved Domain (NCBI)SMC1B
DMDM Disease mutations27127
Blocks (Seattle)SMC1B
SuperfamilyQ8NDV3
Human Protein AtlasENSG00000077935
Peptide AtlasQ8NDV3
HPRD10564
IPIIPI00479260   IPI00807400   IPI00893258   
Protein Interaction databases
DIP (DOE-UCLA)Q8NDV3
IntAct (EBI)Q8NDV3
FunCoupENSG00000077935
BioGRIDSMC1B
STRING (EMBL)SMC1B
ZODIACSMC1B
Ontologies - Pathways
QuickGOQ8NDV3
Ontology : AmiGOchromosome, centromeric region  lateral element  DNA binding  ATP binding  nucleoplasm  cytoplasm  sister chromatid cohesion  meiotic nuclear division  meiotic cohesin complex  nuclear meiotic cohesin complex  
Ontology : EGO-EBIchromosome, centromeric region  lateral element  DNA binding  ATP binding  nucleoplasm  cytoplasm  sister chromatid cohesion  meiotic nuclear division  meiotic cohesin complex  nuclear meiotic cohesin complex  
Pathways : KEGGCell cycle    Oocyte meiosis   
NDEx NetworkSMC1B
Atlas of Cancer Signalling NetworkSMC1B
Wikipedia pathwaysSMC1B
Orthology - Evolution
OrthoDB27127
GeneTree (enSembl)ENSG00000077935
Phylogenetic Trees/Animal Genes : TreeFamSMC1B
HOVERGENQ8NDV3
HOGENOMQ8NDV3
Homologs : HomoloGeneSMC1B
Homology/Alignments : Family Browser (UCSC)SMC1B
Gene fusions - Rearrangements
Fusion : MitelmanKPNA1/SMC1B [3q21.1/22q13.31]  [t(3;22)(q21;q13)]  
Fusion: TCGAKPNA1 3q21.1 SMC1B 22q13.31 PRAD
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSMC1B [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SMC1B
dbVarSMC1B
ClinVarSMC1B
1000_GenomesSMC1B 
Exome Variant ServerSMC1B
ExAC (Exome Aggregation Consortium)SMC1B (select the gene name)
Genetic variants : HAPMAP27127
Genomic Variants (DGV)SMC1B [DGVbeta]
DECIPHER (Syndromes)22:45739945-45809500  ENSG00000077935
CONAN: Copy Number AnalysisSMC1B 
Mutations
ICGC Data PortalSMC1B 
TCGA Data PortalSMC1B 
Broad Tumor PortalSMC1B
OASIS PortalSMC1B [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSMC1B  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSMC1B
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch SMC1B
DgiDB (Drug Gene Interaction Database)SMC1B
DoCM (Curated mutations)SMC1B (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SMC1B (select a term)
intoGenSMC1B
Cancer3DSMC1B(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM608685   
Orphanet
MedgenSMC1B
Genetic Testing Registry SMC1B
NextProtQ8NDV3 [Medical]
TSGene27127
GENETestsSMC1B
Huge Navigator SMC1B [HugePedia]
snp3D : Map Gene to Disease27127
BioCentury BCIQSMC1B
ClinGenSMC1B
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD27127
Chemical/Pharm GKB GenePA35962
Clinical trialSMC1B
Miscellaneous
canSAR (ICR)SMC1B (select the gene name)
Probes
Litterature
PubMed14 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSMC1B
EVEXSMC1B
GoPubMedSMC1B
iHOPSMC1B
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Mar 30 15:20:07 CEST 2017

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