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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
  • Alliance
    gene page
  • Transcription Start Sites
    59 TSS
Location &
Maps
more
  • Sequence Map
    Chr2:156939454-156977016 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 2, 78.00 cM, cytoband H2
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1074 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1927468
 protein coding gene Chr2:156939453-156977185 (-)
129S1/SvImJ MGP_129S1SvImJ_G0026776
 protein coding gene Chr2:162073745-162114687 (-)
A/J MGP_AJ_G0026742
 protein coding gene Chr2:155596681-155634652 (-)
AKR/J MGP_AKRJ_G0026713
 protein coding gene Chr2:160172607-160211590 (-)
BALB/cJ MGP_BALBcJ_G0026751
 protein coding gene Chr2:155881980-155920341 (-)
C3H/HeJ MGP_C3HHeJ_G0026493
 protein coding gene Chr2:160472585-160511834 (-)
C57BL/6NJ MGP_C57BL6NJ_G0027200
 protein coding gene Chr2:166844384-166906004 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0024570
 protein coding gene Chr2:149057324-149096766 (-)
CAST/EiJ MGP_CASTEiJ_G0025955
 protein coding gene Chr2:160826831-160864122 (-)
CBA/J MGP_CBAJ_G0026470
 protein coding gene Chr2:172896360-172939363 (-)
DBA/2J MGP_DBA2J_G0026608
 protein coding gene Chr2:154769128-154806277 (-)
FVB/NJ MGP_FVBNJ_G0026575
 protein coding gene Chr2:153166545-153206074 (-)
LP/J MGP_LPJ_G0026713
 protein coding gene Chr2:162168598-162209715 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0026596
 protein coding gene Chr2:176738577-176785046 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0027256
 protein coding gene Chr2:159986945-160028210 (-)
PWK/PhJ MGP_PWKPhJ_G0025689
 protein coding gene Chr2:154278000-154317633 (-)
SPRET/EiJ MGP_SPRETEiJ_G0025492
 protein coding gene Chr2:158937931-158979813 (-)
WSB/EiJ MGP_WSBEiJ_G0026025
 protein coding gene Chr2:160875683-160916597 (-)



Homology
more
  • Human Ortholog
    SAMHD1, SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    SAMHD1, SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1
  • Synonyms
    CHBL2, DCIP, HDDC1, hSAMHD1, MOP-5, SBBI88
  • Links
    NCBI Gene ID: 25939
    neXtProt AC: NX_Q9Y3Z3
    UniProt: Q9Y3Z3

  • Chr Location
    20q11.23; chr20:36889773-36951893 (-)  GRCh38
Human Diseases
more
  • Diseases
    5 with human SAMHD1 associations

Human Disease Mouse Models
      
IDs
IDs
IDs
IDs
IDs
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    6 phenotypes from 6 alleles in 3 genetic backgrounds
    21 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.
Mice homozygous for a knock-out allele exhibit increased susceptibility to infection with pseudotyped HIV-1.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
    58
  • GO References
    10
Molecular Function

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

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
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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
    727
  • Tissues
    3
  • cDNA Data
    19
  • Literature Summary
    1
Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic 56045 NCBI Gene Model | MGI Sequence Detail 37563 C57BL/6J ±  kb
transcript NM_001139520 RefSeq | MGI Sequence Detail 3879 C57BL/6  
polypeptide Q60710 UniProt | EBI | MGI Sequence Detail 658 Not Applicable  
For the selected sequence
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 19
    cDNA 19

    Microarray probesets 10
Other
Accession IDs
less
MGI:2442130
References
more
  • Summaries
    All 55
    Developmental Gene Expression 1
    Gene Ontology 10
    Phenotypes 21
  • 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:338414 Tada T, et al., Vectored immunoprophylaxis and treatment of SARS-CoV-2 infection in a preclinical model. Proc Natl Acad Sci U S A. 2023 Jun 6;120(23):e2303509120
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources
Funding Information
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Send questions and comments to User Support. 		last database update
10/22/2024
MGI 6.24 		The Jackson Laboratory