SAMHD1 (SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1)

2013-05-01  

Identity

HGNC
SAMHD1
LOCATION
20q11.23
LOCUSID
25939
ALIAS
CHBL2,DCIP,HDDC1,MOP-5,SBBI88,hSAMHD1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 25939
MIM: 606754
HGNC: 15925
Ensembl: ENSG00000101347

Variants:

dbSNP: 25939
ClinVar: 25939
TCGA: ENSG00000101347
COSMIC: SAMHD1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000101347ENST00000262878Q9Y3Z3
ENSG00000101347ENST00000465985A0A2R8YF18
ENSG00000101347ENST00000642186A0A2R8Y5D2
ENSG00000101347ENST00000642246A0A2R8Y7R5
ENSG00000101347ENST00000642616A0A2R8Y586
ENSG00000101347ENST00000643078A0A2R8Y7R5
ENSG00000101347ENST00000643825A0A2R8YFV6
ENSG00000101347ENST00000643918A0A2R8YCS7
ENSG00000101347ENST00000644114A0A2R8YD90
ENSG00000101347ENST00000644250A0A2R8YDI8
ENSG00000101347ENST00000645033A0A2R8Y5D2
ENSG00000101347ENST00000645444A0A2R8Y6J9
ENSG00000101347ENST00000646066Q9Y3Z3
ENSG00000101347ENST00000646121A0A2R8YG48
ENSG00000101347ENST00000646673Q9Y3Z3
ENSG00000101347ENST00000646866A0A2R8Y755
ENSG00000101347ENST00000646869Q9Y3Z3
ENSG00000101347ENST00000646904A0A2R8YF51
ENSG00000101347ENST00000647163A0A2R8Y5D2

Expression (GTEx)

0
50
100
150
200
250
300
350
400
450
500
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Immune SystemREACTOMER-HSA-168256
Cytokine Signaling in Immune systemREACTOMER-HSA-1280215
Interferon SignalingREACTOMER-HSA-913531
Interferon alpha/beta signalingREACTOMER-HSA-909733

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA445301Peripheral Nervous System DiseasesDiseaseClinicalAnnotationassociatedPD30273369
PA447230HIVDiseaseClinicalAnnotationassociatedPD30273369
PA451494stavudineChemicalClinicalAnnotationassociatedPD30273369

References

Pubmed IDYearTitleCitations
216139982011SAMHD1 is the dendritic- and myeloid-cell-specific HIV-1 restriction factor counteracted by Vpx.670
217203702011Vpx relieves inhibition of HIV-1 infection of macrophages mediated by the SAMHD1 protein.583
223275692012SAMHD1 restricts the replication of human immunodeficiency virus type 1 by depleting the intracellular pool of deoxynucleoside triphosphates.373
220569902011HIV-1 restriction factor SAMHD1 is a deoxynucleoside triphosphate triphosphohydrolase.358
229723972012SAMHD1 restricts HIV-1 infection in resting CD4(+) T cells.283
195259562009Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response.262
236025542013Phosphorylation of SAMHD1 by cyclin A2/CDK1 regulates its restriction activity toward HIV-1.177
230921222012SAMHD1 restricts HIV-1 reverse transcription in quiescent CD4(+) T-cells.176
220693342011Aicardi-Goutieres syndrome gene and HIV-1 restriction factor SAMHD1 is a dGTP-regulated deoxynucleotide triphosphohydrolase.172
236011062013The retroviral restriction ability of SAMHD1, but not its deoxynucleotide triphosphohydrolase activity, is regulated by phosphorylation.148

Citation

Dessen P

SAMHD1 (SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1)

Atlas Genet Cytogenet Oncol Haematol. 2013-05-01

Online version: http://atlasgeneticsoncology.org/gene/53284/samhd1