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Samhd1 Gene Detail
Summary
  • Symbol
    Samhd1
  • Name
    SAM domain and HD domain, 1
  • Synonyms
    E330031J07Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:1927468
    NCBI Gene: 56045
  • Gene Overview
    MyGene.info: SAMHD1
Location & Maps
more
  • Sequence Map
    Chr2:157097533-157135265 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser
  • Download
    Sequence
      37733 bp   ±  kb flank

  • Genome Browsers
    VEGA | Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 2, 78.00 cM, cytoband H2
  • Mapping Data
    3 experiments
Homology
more
  • Human Ortholog
    SAMHD1, SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1
  • Vertebrate Orthologs
    10
  • Human Ortholog
    SAMHD1, SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1
    Orthology source: HomoloGene, HGNC
  • Synonyms
    CHBL2, DCIP, HDDC1, MOP-5, SBBI88
  • Links
    NCBI Gene ID: 25939
    neXtProt AC: NX_Q9Y3Z3

  • Chr Location
    20pter-q12; chr20:36891824-36951843 (-)  GRCh38.p2
  • HomoloGene
    Vertebrate Homology Class 9160
    1 human;1 mouse;1 rat;1 chimpanzee;1 rhesus macaque;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed
  • HCOP
    human homology predictions: SAMHD1
  • Gene Tree
    Samhd1
Human Diseases
more
  • Diseases
    2 with human SAMHD1 associations

Human Disease Mouse Models
       Aicardi-Goutieres Syndrome 5; AGS5   OMIM: 612952
Chilblain Lupus 2; CHBL2   OMIM: 614415
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    6 phenotypes from 6 alleles in 3 genetic backgrounds
    7 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    11
  • Gene trapped
    2
  • Targeted
    9
  • Incidental Mutations
    Mutagenetix , APF
Mice homozygous for a knock-out allele exhibit increased susceptibility to infection with pseudotyped HIV-1.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    24
  • GO References
    3
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    21
  • Tissues
    3
  • cDNA Data
    18
  • Literature Summary
    1
Interactions
less
Sequences &
Gene Models
less
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000016173 VEGA Gene Model | MGI Sequence Detail 37733 C57BL/6J ±  kb
transcript OTTMUST00000038703 VEGA | MGI Sequence Detail 3926 Not Applicable  
polypeptide OTTMUSP00000017309 VEGA | MGI Sequence Detail 658 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    403 from dbSNP Build 142
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 18
    cDNA 18

    Microarray probesets 10
Other
Accession IDs
less
MGI:2442130
References
more
  • Summaries
    All 33
    Developmental Gene Expression 1
    Gene Ontology 3
    Phenotypes 7
  • Earliest
    J:23604 Lafuse WP, et al., Cloning and characterization of a novel cDNA that is IFN-gamma-induced in mouse peritoneal macrophages and encodes a putative GTP-binding protein. J Leukoc Biol. 1995 Mar;57(3):477-83
  • Latest
    J:217228 Miazzi C, et al., Allosteric regulation of the human and mouse deoxyribonucleotide triphosphohydrolase sterile alpha-motif/histidine-aspartate domain-containing protein 1 (SAMHD1). J Biol Chem. 2014 Jun 27;289(26):18339-46
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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Send questions and comments to User Support. 		last database update
09/20/2016
MGI 6.05 		The Jackson Laboratory