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SAMHD1 (SAM domain and HD domain 1)

Identity

Other namesCHBL2
DCIP
HDDC1
MOP-5
SBBI88
HGNC (Hugo) SAMHD1
LocusID (NCBI) 25939
Location 20q11.23
Location_base_pair Starts at 35520227 and ends at 35580246 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

External links

Nomenclature
HGNC (Hugo)SAMHD1   15925
Cards
Entrez_Gene (NCBI)SAMHD1  25939  SAM domain and HD domain 1
GeneCards (Weizmann)SAMHD1
Ensembl (Hinxton)ENSG00000101347 [Gene_View]  chr20:35520227-35580246 [Contig_View]  SAMHD1 [Vega]
ICGC DataPortalENSG00000101347
cBioPortalSAMHD1
AceView (NCBI)SAMHD1
Genatlas (Paris)SAMHD1
WikiGenes25939
SOURCE (Princeton)NM_015474
Genomic and cartography
GoldenPath (UCSC)SAMHD1  -  20q11.23   chr20:35520227-35580246 -  20q11.23   [Description]    (hg19-Feb_2009)
EnsemblSAMHD1 - 20q11.23 [CytoView]
Mapping of homologs : NCBISAMHD1 [Mapview]
OMIM606754   612952   614415   
Gene and transcription
Genbank (Entrez)AB013847 AB208944 AF228421 AK027811 AK304187
RefSeq transcript (Entrez)NM_015474
RefSeq genomic (Entrez)AC_000152 NC_000020 NC_018931 NG_017059 NT_011362 NW_001838665 NW_004929418
Consensus coding sequences : CCDS (NCBI)SAMHD1
Cluster EST : UnigeneHs.580681 [ NCBI ]
CGAP (NCI)Hs.580681
Alternative Splicing : Fast-db (Paris)GSHG0019164
Alternative Splicing GalleryENSG00000101347
Gene ExpressionSAMHD1 [ NCBI-GEO ]     SAMHD1 [ SEEK ]   SAMHD1 [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9Y3Z3 (Uniprot)
NextProtQ9Y3Z3  [Medical]
With graphics : InterProQ9Y3Z3
Splice isoforms : SwissVarQ9Y3Z3 (Swissvar)
Catalytic activity : Enzyme3.1.5.- [ Enzyme-Expasy ]   3.1.5.-3.1.5.- [ IntEnz-EBI ]   3.1.5.- [ BRENDA ]   3.1.5.- [ KEGG ]   
Domaine pattern : Prosite (Expaxy)SAM_DOMAIN (PS50105)   
Domains : Interpro (EBI)HD/PDEase_dom [organisation]   HD_domain [organisation]   SAM [organisation]   SAM/pointed [organisation]   SAM_2 [organisation]  
Related proteins : CluSTrQ9Y3Z3
Domain families : Pfam (Sanger)HD (PF01966)    SAM_2 (PF07647)   
Domain families : Pfam (NCBI)pfam01966    pfam07647   
Domain families : Smart (EMBL)HDc (SM00471)  SAM (SM00454)  
DMDM Disease mutations25939
Blocks (Seattle)Q9Y3Z3
PDB (SRS)2E8O    3U1N   
PDB (PDBSum)2E8O    3U1N   
PDB (IMB)2E8O    3U1N   
PDB (RSDB)2E8O    3U1N   
Human Protein AtlasENSG00000101347 [gene] [tissue] [antibody] [cell] [cancer]
Peptide AtlasQ9Y3Z3
HPRD08418
IPIIPI00294739   IPI00943982   IPI00553034   
Protein Interaction databases
DIP (DOE-UCLA)Q9Y3Z3
IntAct (EBI)Q9Y3Z3
FunCoupENSG00000101347
BioGRIDSAMHD1
InParanoidQ9Y3Z3
Interologous Interaction database Q9Y3Z3
IntegromeDBSAMHD1
STRING (EMBL)SAMHD1
Ontologies - Pathways
Ontology : AmiGOnucleic acid binding  RNA binding  protein binding  intracellular  nucleus  immune response  phosphoric diester hydrolase activity  innate immune response  regulation of innate immune response  metal ion binding  defense response to virus  
Ontology : EGO-EBInucleic acid binding  RNA binding  protein binding  intracellular  nucleus  immune response  phosphoric diester hydrolase activity  innate immune response  regulation of innate immune response  metal ion binding  defense response to virus  
Protein Interaction DatabaseSAMHD1
Wikipedia pathwaysSAMHD1
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)SAMHD1
snp3D : Map Gene to Disease25939
SNP (GeneSNP Utah)SAMHD1
SNP : HGBaseSAMHD1
Genetic variants : HAPMAPSAMHD1
Exome VariantSAMHD1
1000_GenomesSAMHD1 
ICGC programENSG00000101347 
Somatic Mutations in Cancer : COSMICSAMHD1 
CONAN: Copy Number AnalysisSAMHD1 
Mutations and Diseases : HGMDSAMHD1
Genomic VariantsSAMHD1  SAMHD1 [DGVbeta]
dbVarSAMHD1
ClinVarSAMHD1
Pred. of missensesPolyPhen-2  SIFT(SG)  SIFT(JCVI)  Align-GVGD  MutAssessor  Mutanalyser  
Pred. splicesGeneSplicer  Human Splicing Finder  MaxEntScan  
Diseases
OMIM606754    612952    614415   
MedgenSAMHD1
GENETestsSAMHD1
Disease Genetic AssociationSAMHD1
Huge Navigator SAMHD1 [HugePedia]  SAMHD1 [HugeCancerGEM]
General knowledge
Homologs : HomoloGeneSAMHD1
Homology/Alignments : Family Browser (UCSC)SAMHD1
Phylogenetic Trees/Animal Genes : TreeFamSAMHD1
Chemical/Protein Interactions : CTD25939
Chemical/Pharm GKB GenePA34938
Clinical trialSAMHD1
Cancer Resource (Charite)ENSG00000101347
Other databases
Probes
Litterature
PubMed73 Pubmed reference(s) in Entrez
CoreMineSAMHD1
iHOPSAMHD1
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 : Fri Jul 11 17:17:50 CEST 2014

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