SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1

Summary
Gene Symbol
  • SAMHD1
Aliases
  • AGS5
  • Aicardi-Goutieres syndrome 5
  • HD domain containing 1
  • HDDC1
  • MOP-5
  • Mg11
  • SBBI88
  • monocyte protein 5
Organism
Homo sapiens (human)
NCBI Gene
25939
HGNC
15925
PubChem
25939
Alliance of Genome Resources
Annotation
Keyword
  • 3D-structure
  • Acetylation
  • Aicardi-Goutieres syndrome
  • Allosteric enzyme
  • Alternative splicing
  • Antiviral defense
  • Chromosome
  • DNA repair
  • DNA replication
  • Direct protein sequencing
  • Disease variant
  • GTP-binding
  • Host-virus interaction
  • Hydrolase
  • Innate immunity
  • Isopeptide bond
  • Metal-binding
  • Nucleus
  • Phosphoprotein
  • Reference proteome
  • Ubl conjugation
  • Zinc
Proteins
Displaying all 2 entries
UniProt Protein Name
Q9Y3Z3
  • Dendritic cell-derived IFNG-induced protein
  • Monocyte protein 5
  • SAM domain and HD domain-containing protein 1
Q59H15
Gene Ontology (GO)
GO Hierarchy
GO Hierarchy
Human Protein Atlas
ENSG00000101347

soft tissue soft tissue blood blood blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node kidney kidney adrenal gland adrenal gland breast breast duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland nasopharynx nasopharynx tongue tonsil tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder ductus deferens ductus deferens seminal vesicle seminal vesicle seminal vesicle seminal vesicle testis testis epididymis epididymis brain smooth muscle urinary bladder prostate bone marrow skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus cartilage sole of foot sole of foot soft tissue blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lactating breast lactating breast kidney kidney adrenal gland adrenal gland duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland salivary gland salivary gland salivary gland salivary gland salivary gland nasopharynx tongue tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder brain skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus smooth muscle urinary bladder vagina ovary ovary fallopian tube fallopian tube endometrium placenta cervix cervix bone marrow cartilage sole of foot sole of foot olfactory region cerebral cortex cerebellum medulla pons midbrain pituitary gland hypothalamus amygdala thalamus choroid plexus choroid plexus corpus callosum basal ganglia substantia nigra dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe caudate hippocampus retina retina

Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.

Disease
Disease Ontology
Displaying all 5 entries
DO ID Disease Name Source
DOID:0050629 Aicardi-Goutieres syndrome
DOID:0060386 Chilblain lupus
DOID:1883 hepatitis C
DOID:2043 hepatitis B
DOID:9119 acute myeloid leukemia
The Human Phenotype Ontology
Displaying entries 1 - 10 of 84 in total
HPO ID HPO Term
HP:0000006 Autosomal dominant inheritance
HP:0000007 Autosomal recessive inheritance
HP:0000054 Micropenis
HP:0000252 Microcephaly
HP:0000369 Low-set ears
HP:0000444 Convex nasal ridge
HP:0000496 Abnormality of eye movement
HP:0000501 Glaucoma
HP:0000508 Ptosis
HP:0000625 Eyelid coloboma
Displaying all 3 entries
Disease ID Disease Name
ORPHA:51
  • Aicardi-Goutieres syndrome
OMIM:612952
  • Aicardi-Goutieres syndrome 5
OMIM:614415
  • chilblain lupus 2

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

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Last updated: February 17, 2025