InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: SAMHD1

Summary

InnateDB Protein

IDBP-73655.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

SAMHD1

Protein Name

SAM domain and HD domain 1

Synonyms

CHBL2; DCIP; HDDC1; MOP-5; SBBI88;

Species

Homo sapiens

Ensembl Protein

ENSP00000262878

InnateDB Gene

IDBG-73653 (SAMHD1)

Protein Structure

UniProt Annotation

Function

Host restriction nuclease that blocks early-stage virus replication in dendritic and other myeloid cells. Likewise, suppresses LINE-1 retrotransposon activity. May function by reducing the cellular dNTP levels to levels too low for retroviral reverse transcription to occur. May play a role in mediating proinflammatory responses to TNF-alpha signaling. {ECO:0000269PubMed:18546154, ECO:0000269PubMed:19525956, ECO:0000269PubMed:22056990, ECO:0000269PubMed:24336198}.

Subcellular Localization

Nucleus {ECO:0000269PubMed:19525956, ECO:0000269PubMed:23092512}.

Disease Associations

Aicardi-Goutieres syndrome 5 (AGS5) [MIM:612952]: A form of Aicardi-Goutieres syndrome, a genetically heterogeneous disease characterized by cerebral atrophy, leukoencephalopathy, intracranial calcifications, chronic cerebrospinal fluid (CSF) lymphocytosis, increased CSF alpha-interferon, and negative serologic investigations for common prenatal infection. Clinical features as thrombocytopenia, hepatosplenomegaly and elevated hepatic transaminases along with intermittent fever may erroneously suggest an infective process. Severe neurological dysfunctions manifest in infancy as progressive microcephaly, spasticity, dystonic posturing and profound psychomotor retardation. Death often occurs in early childhood. {ECO:0000269PubMed:19525956, ECO:0000269PubMed:20131292, ECO:0000269PubMed:20842748}. Note=The disease is caused by mutations affecting the gene represented in this entry.Chilblain lupus 2 (CHBL2) [MIM:614415]: A rare cutaneous form of lupus erythematosus. Affected individuals present with painful bluish-red papular or nodular lesions of the skin in acral locations precipitated by cold and wet exposure at temperatures less than 10 degrees centigrade. {ECO:0000269PubMed:21204240}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Expressed in heart, skeletal muscle, spleen, liver, small intestine, placenta, lung and peripheral blood leukocytes. No expression is seen in brain and thymus. {ECO:0000269PubMed:11064105}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 53 experimentally validated interaction(s) in this database.

Experimentally validated
Total	53 [view]
Protein-Protein	51 [view]
Protein-DNA	2 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003676	nucleic acid binding
GO:0003723	RNA binding
GO:0005515	protein binding
GO:0008081	phosphoric diester hydrolase activity
GO:0008270	zinc ion binding
GO:0008832	dGTPase activity
GO:0032567	dGTP binding
GO:0046872	metal ion binding

Biological Process

GO:0006203	dGTP catabolic process
GO:0006955	immune response
GO:0008152	metabolic process
GO:0045087	innate immune response (InnateDB)
GO:0045088	regulation of innate immune response
GO:0046061	dATP catabolic process
GO:0051289	protein homotetramerization
GO:0051607	defense response to virus

Cellular Component

GO:0005622	intracellular
GO:0005634	nucleus
GO:0005886	plasma membrane

Protein Structure and Domains

PDB ID

InterPro

IPR001660 Sterile alpha motif domain
IPR003607 HD/PDEase domain
IPR006674 HD domain
IPR011510 Sterile alpha motif, type 2
IPR013761 Sterile alpha motif/pointed domain
IPR021129 Sterile alpha motif, type 1

PFAM

PF01966
PF13023
PF07647
PF00536

PRINTS

PIRSF

SMART

SM00454
SM00471

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

Q9Y3Z3