Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Orphanet Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol SAMHD1 contributors: mct - updated : 09-07-2013
HGNC name SAM domain and HD domain 1
HGNC id 15925
Corresponding disease
AGS5 Aicardi-Goutières syndrome 5
CVPI cerebral vasculopathy with inflammation
Location 20q11.23      Physical location : 35.520.226 - 35.580.246
Synonym name
  • HD domain containing 1
  • monocyte protein 5
  • dendritic cell-derived IFNG-induced protein
  • Synonym symbol(s) Mg11, SBBI88, DCID, HDDC1, MOP-5
    EC.number 3.1.4.-
    DNA
    TYPE functioning gene
    STRUCTURE 59.53 kb     16 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Physical map
    C20orf53 20 chromosome 20 open reading frame 53 C20orf104 20q11.22-q11.23 chromosome 20 open reading frame 104 SCAND1 20q11.1-q11.23 SCAN domain containing 1 C20orf152 20q11.23 chromosome 20 open reading frame 152 HMG4L2 20q11.23 high-mobility group (nonhistone chromosomal) protein 4-like 2 EPB41L1 20q11.2-q12 erythrocyte membrane protein band 4.1-like 1 C20orf4 20pter-q12 chromosome 20 open reading frame 4 DAP4 20q11.23 disks large-associated protein 4 MYL9 20q11.22 myosin, light polypeptide 9, regulatory TGIF2 20q11.2-q12 TGFB-induced factor 2 (TALE family homeobox) C20orf24 20q11.23 chromosome 20 open reading frame 24 SLA2 20q11.22 Src-like-adaptor 2 NDRG3 20q11.21-q11.23 NDRG family member 3 C20orf172 20q11.23 chromosome 20 open reading frame 172 KIAA0889 20q11.23 KIAA0889 protein LOC343574 20q11.23 similar to dJ132F21.2 (Contains a novel protein similar to the L82E from Drosophila) SAMHD1 20q11.22 SAM domain and HD domain 1 RBL1 20q11.21 retinoblastoma-like 1 (p107) RPS3AP3 20q11.2 ribosomal protein S3A pseudogene 3 C20orf132 20q11.22 chromosome 20 open reading frame 132 RPN2 20q11.22-q11.23 ribophorin II GHRH 20q11.21 growth hormone releasing hormone MANBAL 20q11.23-q12 mannosidase, beta A, lysosomal-like SRC 20q11.21 v-src sarcoma (Schmidt-Ruppin A-2) viral oncogene homolog (avian) RPL7AL4 20q11.2 ribosomal protein L7A-like 4 BLCAP 20q11.2-q12 bladder cancer associated protein NNAT 20q11.2-q12 neuronatin PPIAP3 20q11.23 peptidylprolyl isomerase A (cyclophilin A) pseudogene 3 GLRXP 20q11.2 glutaredoxin (thioltransferase) pseudogene CTNNBL1 20q11.23-q12 catenin, beta like 1 C20orf102 20q11.23 chromosome 20 open reading frame 102 KIAA0406 20q11.21-q12 Homo sapiens KIAA0406 gene product (KIAA0406), mRNA. C20orf77 20q11.21-q12 chromosome 20 open reading frame 77
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    16 - 3189 72.2 626 - 2009 19525956
    - - - - 506 - 2011 22056990
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart    
    Digestiveintestinesmall intestine   
     liver    
    Lymphoid/Immune    highly Homo sapiens
    Respiratorylung    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / hematopoieticbone marrow  highly Homo sapiens
    Muscularstriatumcardiac  
    Muscularstriatumskeletal  
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Blood/Hematopoieticleukocyte
    Blood/Hematopoieticmonocyte Homo sapiens
    Lymphoid/Immunedendritic cell Homo sapiens
    Lymphoid/Immunemacrophage Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period pregnancy
    Text placenta
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a N-trerminal sterile alpha motif (SAM) and an HD domain occuring in tandem (SAMs are 65–70 AAs in length and can serve as protein-interaction modules mediating interactions with other SAM domain and non-SAM-domain–containing proteins) (Rice 2009)
  • several phosphorylation and N-myristoylation sites
  • an N-glycosylation site
  • an amidation site
  • a dGTP-regulated deoxynucleotide triphosphohydrolase
  • a C-terminal predicted phosphohydrolase HD (His···His-Asp···Asp) domain
  • HOMOLOGY
    interspecies ortholog to murine Ifng-induced gene Mg11
    homolog to murine Ifn-gamma induced protein
    Homologene
    FAMILY
  • SAMHD1 family
  • CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus
    text exclusively localized to the nucleus (Rice 2009)
    basic FUNCTION
  • may act as a negative regulator of the cell-intrinsic antiviral response
  • may act as a negative regulator of the immunostimulatory DNA response and may have a protective role in preventing self-activation of innate immunity
  • interferon-induced protein in human macrophages and dendritic cells
  • HIV-1 restriction factor that blocks early-stage virus replication in dendritic and other myeloid cells, and is the target of the lentiviral protein Vpx, which can relieve HIV-1 restriction
  • important roles in immunoregulation and cerebral vascular hemeostasis
  • antiretroviral protein expressed in cells of the myeloid lineage that inhibits an early step of the viral life cycle
  • may be the restriction factor that renders dendritic cells refractory to HIV-1 infection
  • through the putative nucleotidase activity, may degrade or prevent accumulation of HIV DNA
  • implicated in inhibition of HIV-1 infection in macrophages
  • potent deoxynucleoside GTP-stimulated triphosphohydrolase that converts deoxynucleoside triphosphates to the constituent deoxynucleoside and inorganic triphosphate
  • restricts HIV-1 replication by hydrolysing the majority of cellular dNTPs, thus inhibiting reverse transcription and viral complementary DNA (cDNA) synthesis
  • HIV-1 restriction factor that is targeted by the HIV-2 accessory protein Vpx in myeloid lineage cells
  • SAMHD1, TREX1, and RNase H2 participate in a cellular nucleic acid metabolic pathway that overlaps the interferon-mediated innate antiviral and inflammatory responses
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) AGS5 , CVPI
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --over  
    in sensitive cells inhibits HIV-1 infection
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS