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SAMHD1 (SAM domain and HD domain 1)

Identity

Alias_namesSAM domain and HD domain 1
Alias_symbol (synonym)SBBI88
Mg11
HDDC1
MOP-5
AGS5
HGNC (Hugo) SAMHD1
LocusID (NCBI) 25939
Atlas_Id 53284
Location 20q11.23  [Link to chromosome band 20q11]
Location_base_pair Starts at 35520227 and ends at 35580246 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
SAMD12 (8q24.12) / SAMHD1 (20q11.23)SAMHD1 (20q11.23) / DDX27 (20q13.13)SAMHD1 (20q11.23) / YIF1B (19q13.2)
UQCC1 (20q11.22) / SAMHD1 (20q11.23)SAMD12 8q24.12 / SAMHD1 20q11.23SAMHD1 20q11.23 / DDX27 20q13.13
SAMHD1 20q11.23 / YIF1B 19q13.2UQCC SAMHD1 20q11.23

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)SAMHD1   15925
LRG (Locus Reference Genomic)LRG_281
Cards
Entrez_Gene (NCBI)SAMHD1  25939  SAM domain and HD domain 1
AliasesCHBL2; DCIP; HDDC1; MOP-5; 
SBBI88
GeneCards (Weizmann)SAMHD1
Ensembl hg19 (Hinxton)ENSG00000101347 [Gene_View]  chr20:35520227-35580246 [Contig_View]  SAMHD1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000101347 [Gene_View]  chr20:35520227-35580246 [Contig_View]  SAMHD1 [Vega]
ICGC DataPortalENSG00000101347
TCGA cBioPortalSAMHD1
AceView (NCBI)SAMHD1
Genatlas (Paris)SAMHD1
WikiGenes25939
SOURCE (Princeton)SAMHD1
Genetics Home Reference (NIH)SAMHD1
Genomic and cartography
GoldenPath hg19 (UCSC)SAMHD1  -     chr20:35520227-35580246 -  20q11.23   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)SAMHD1  -     20q11.23   [Description]    (hg38-Dec_2013)
EnsemblSAMHD1 - 20q11.23 [CytoView hg19]  SAMHD1 - 20q11.23 [CytoView hg38]
Mapping of homologs : NCBISAMHD1 [Mapview hg19]  SAMHD1 [Mapview hg38]
OMIM606754   612952   614415   
Gene and transcription
Genbank (Entrez)AB013847 AB208944 AF228421 AK027811 AK304187
RefSeq transcript (Entrez)NM_015474
RefSeq genomic (Entrez)NC_000020 NC_018931 NG_017059 NT_011362 NW_004929418
Consensus coding sequences : CCDS (NCBI)SAMHD1
Cluster EST : UnigeneHs.580681 [ NCBI ]
CGAP (NCI)Hs.580681
Alternative Splicing GalleryENSG00000101347
Gene ExpressionSAMHD1 [ NCBI-GEO ]   SAMHD1 [ EBI - ARRAY_EXPRESS ]   SAMHD1 [ SEEK ]   SAMHD1 [ MEM ]
Gene Expression Viewer (FireBrowse)SAMHD1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)25939
GTEX Portal (Tissue expression)SAMHD1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9Y3Z3   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9Y3Z3  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9Y3Z3
Splice isoforms : SwissVarQ9Y3Z3
Catalytic activity : Enzyme3.1.5.- [ Enzyme-Expasy ]   3.1.5.-3.1.5.- [ IntEnz-EBI ]   3.1.5.- [ BRENDA ]   3.1.5.- [ KEGG ]   
PhosPhoSitePlusQ9Y3Z3
Domaine pattern : Prosite (Expaxy)SAM_DOMAIN (PS50105)   
Domains : Interpro (EBI)HD/PDEase_dom    HD_domain    SAM    SAM/pointed   
Domain families : Pfam (Sanger)HD (PF01966)    SAM_2 (PF07647)   
Domain families : Pfam (NCBI)pfam01966    pfam07647   
Domain families : Smart (EMBL)HDc (SM00471)  SAM (SM00454)  
Conserved Domain (NCBI)SAMHD1
DMDM Disease mutations25939
Blocks (Seattle)SAMHD1
PDB (SRS)2E8O    3U1N    4BZB    4BZC    4CC9    4MZ7    4Q7H    4QFX    4QFY    4QFZ    4QG0    4QG1    4QG2    4QG4    4RXO    4RXP    4RXQ    4RXR    4RXS    4TNP    4TNQ    4TNR    4TNX    4TNY    4TNZ    4TO0    4TO1    4TO2    4TO3    4TO4    4TO5    4TO6    4ZWE    4ZWG    5AO0    5AO1    5AO2    5AO4   
PDB (PDBSum)2E8O    3U1N    4BZB    4BZC    4CC9    4MZ7    4Q7H    4QFX    4QFY    4QFZ    4QG0    4QG1    4QG2    4QG4    4RXO    4RXP    4RXQ    4RXR    4RXS    4TNP    4TNQ    4TNR    4TNX    4TNY    4TNZ    4TO0    4TO1    4TO2    4TO3    4TO4    4TO5    4TO6    4ZWE    4ZWG    5AO0    5AO1    5AO2    5AO4   
PDB (IMB)2E8O    3U1N    4BZB    4BZC    4CC9    4MZ7    4Q7H    4QFX    4QFY    4QFZ    4QG0    4QG1    4QG2    4QG4    4RXO    4RXP    4RXQ    4RXR    4RXS    4TNP    4TNQ    4TNR    4TNX    4TNY    4TNZ    4TO0    4TO1    4TO2    4TO3    4TO4    4TO5    4TO6    4ZWE    4ZWG    5AO0    5AO1    5AO2    5AO4   
PDB (RSDB)2E8O    3U1N    4BZB    4BZC    4CC9    4MZ7    4Q7H    4QFX    4QFY    4QFZ    4QG0    4QG1    4QG2    4QG4    4RXO    4RXP    4RXQ    4RXR    4RXS    4TNP    4TNQ    4TNR    4TNX    4TNY    4TNZ    4TO0    4TO1    4TO2    4TO3    4TO4    4TO5    4TO6    4ZWE    4ZWG    5AO0    5AO1    5AO2    5AO4   
Structural Biology KnowledgeBase2E8O    3U1N    4BZB    4BZC    4CC9    4MZ7    4Q7H    4QFX    4QFY    4QFZ    4QG0    4QG1    4QG2    4QG4    4RXO    4RXP    4RXQ    4RXR    4RXS    4TNP    4TNQ    4TNR    4TNX    4TNY    4TNZ    4TO0    4TO1    4TO2    4TO3    4TO4    4TO5    4TO6    4ZWE    4ZWG    5AO0    5AO1    5AO2    5AO4   
SCOP (Structural Classification of Proteins)2E8O    3U1N    4BZB    4BZC    4CC9    4MZ7    4Q7H    4QFX    4QFY    4QFZ    4QG0    4QG1    4QG2    4QG4    4RXO    4RXP    4RXQ    4RXR    4RXS    4TNP    4TNQ    4TNR    4TNX    4TNY    4TNZ    4TO0    4TO1    4TO2    4TO3    4TO4    4TO5    4TO6    4ZWE    4ZWG    5AO0    5AO1    5AO2    5AO4   
CATH (Classification of proteins structures)2E8O    3U1N    4BZB    4BZC    4CC9    4MZ7    4Q7H    4QFX    4QFY    4QFZ    4QG0    4QG1    4QG2    4QG4    4RXO    4RXP    4RXQ    4RXR    4RXS    4TNP    4TNQ    4TNR    4TNX    4TNY    4TNZ    4TO0    4TO1    4TO2    4TO3    4TO4    4TO5    4TO6    4ZWE    4ZWG    5AO0    5AO1    5AO2    5AO4   
SuperfamilyQ9Y3Z3
Human Protein AtlasENSG00000101347
Peptide AtlasQ9Y3Z3
HPRD08418
IPIIPI00294739   IPI00943982   IPI00553034   
Protein Interaction databases
DIP (DOE-UCLA)Q9Y3Z3
IntAct (EBI)Q9Y3Z3
FunCoupENSG00000101347
BioGRIDSAMHD1
STRING (EMBL)SAMHD1
ZODIACSAMHD1
Ontologies - Pathways
QuickGOQ9Y3Z3
Ontology : AmiGOnucleic acid binding  RNA binding  protein binding  intracellular  nucleus  nucleoplasm  nucleoplasm  plasma membrane  dGTP catabolic process  immune response  zinc ion binding  dGTPase activity  dGTP binding  regulation of innate immune response  dATP catabolic process  protein homotetramerization  defense response to virus  type I interferon signaling pathway  
Ontology : EGO-EBInucleic acid binding  RNA binding  protein binding  intracellular  nucleus  nucleoplasm  nucleoplasm  plasma membrane  dGTP catabolic process  immune response  zinc ion binding  dGTPase activity  dGTP binding  regulation of innate immune response  dATP catabolic process  protein homotetramerization  defense response to virus  type I interferon signaling pathway  
NDEx NetworkSAMHD1
Atlas of Cancer Signalling NetworkSAMHD1
Wikipedia pathwaysSAMHD1
Orthology - Evolution
OrthoDB25939
GeneTree (enSembl)ENSG00000101347
Phylogenetic Trees/Animal Genes : TreeFamSAMHD1
HOVERGENQ9Y3Z3
HOGENOMQ9Y3Z3
Homologs : HomoloGeneSAMHD1
Homology/Alignments : Family Browser (UCSC)SAMHD1
Gene fusions - Rearrangements
Fusion : MitelmanSAMD12/SAMHD1 [8q24.12/20q11.23]  [t(8;20)(q24;q11)]  
Fusion : MitelmanSAMHD1/DDX27 [20q11.23/20q13.13]  [t(20;20)(q11;q13)]  
Fusion : MitelmanSAMHD1/YIF1B [20q11.23/19q13.2]  [t(19;20)(q13;q11)]  
Fusion : MitelmanUQCC1/SAMHD1 [20q11.22/20q11.23]  [t(20;20)(q11;q11)]  
Fusion: TCGASAMD12 8q24.12 SAMHD1 20q11.23 HNSC
Fusion: TCGASAMHD1 20q11.23 DDX27 20q13.13 BRCA
Fusion: TCGASAMHD1 20q11.23 YIF1B 19q13.2 HNSC
Fusion: TCGAUQCC SAMHD1 20q11.23 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSAMHD1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SAMHD1
dbVarSAMHD1
ClinVarSAMHD1
1000_GenomesSAMHD1 
Exome Variant ServerSAMHD1
ExAC (Exome Aggregation Consortium)SAMHD1 (select the gene name)
Genetic variants : HAPMAP25939
Genomic Variants (DGV)SAMHD1 [DGVbeta]
DECIPHER (Syndromes)20:35520227-35580246  ENSG00000101347
CONAN: Copy Number AnalysisSAMHD1 
Mutations
ICGC Data PortalSAMHD1 
TCGA Data PortalSAMHD1 
Broad Tumor PortalSAMHD1
OASIS PortalSAMHD1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSAMHD1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSAMHD1
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
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch SAMHD1
DgiDB (Drug Gene Interaction Database)SAMHD1
DoCM (Curated mutations)SAMHD1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SAMHD1 (select a term)
intoGenSAMHD1
Cancer3DSAMHD1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM606754    612952    614415   
Orphanet1309    11994   
MedgenSAMHD1
Genetic Testing Registry SAMHD1
NextProtQ9Y3Z3 [Medical]
TSGene25939
GENETestsSAMHD1
Huge Navigator SAMHD1 [HugePedia]
snp3D : Map Gene to Disease25939
BioCentury BCIQSAMHD1
ClinGenSAMHD1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD25939
Chemical/Pharm GKB GenePA34938
Clinical trialSAMHD1
Miscellaneous
canSAR (ICR)SAMHD1 (select the gene name)
Probes
Litterature
PubMed140 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSAMHD1
EVEXSAMHD1
GoPubMedSAMHD1
iHOPSAMHD1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Fri Nov 18 19:50:37 CET 2016

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