InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Gene: SAMHD1

Summary

InnateDB Gene

IDBG-73653.6

Last Modified

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

Gene Symbol

SAMHD1

Gene Name

SAM domain and HD domain 1

Synonyms

CHBL2; DCIP; HDDC1; MOP-5; SBBI88

Species

Homo sapiens

Ensembl Gene

ENSG00000101347

Encoded Proteins

IDBP-73655

SAM domain and HD domain 1

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

InnateDB Annotation

Summary

PMID 21720370

SAMHD1 is specifically targeted for degradation by human immunodeficiency virus 1 (HIV-1) viral protein VPX, and mutations in SAMHD1 causes Aicardi-Goutieres syndrome, which mimics symptoms of congenital viral infection.

PMID 21613998

SAMHD1 is expressed in dendritic and myeloid cells and acts as an anti-retroviral protein that inhibits the early stages of the viral life cycle. Silencing of SAMHD1 leads to significant accumulation of human immunodeficiency virus 1 (HIV-1) DNA in infected cells.

PMID 22327569

SAMHD1 inhibits HIV replication by depleting intracellular dNTPs, which are required for viral reverse transcriptase to synthesize viral DNA.

PMID 24753578

Full activation of SAMHD1 involves ordered binding of GTP and substrate dNTPs to activator and substrate sites on the enzyme.

InnateDB Annotation from Orthologs

Summary

PMID 21720370

[Mus musculus] Samhd11 is specifically targeted for degradation by human immunodeficiency virus 1 (HIV-1) viral protein VPX, and mutations in SAMHD11 causes Aicardi-Goutieres syndrome, which mimics symptoms of congenital viral infection. (Demonstrated in human)

PMID 21613998

[Mus musculus] Samhd1 is expressed in dendritic and myeloid cells and acts as an anti-retroviral protein that inhibits the early stages of the viral life cycle. Silencing of SAMHD1 leads to significant accumulation of human immunodeficiency virus 1 (HIV-1) DNA in infected cells. (Demonstrated in human)

PMID 22327569

[Mus musculus] Samhd1 inhibits HIV replication by depleting intracellular dNTPs, which are required for viral reverse transcriptase to synthesize viral DNA. (Demonstrated in human)

Entrez Gene

Summary

This gene may play a role in regulation of the innate immune response. The encoded protein is upregulated in response to viral infection and may be involved in mediation of tumor necrosis factor-alpha proinflammatory responses. Mutations in this gene have been associated with Aicardi-Goutieres syndrome. [provided by RefSeq, Mar 2010]

Gene Information

Type

Protein coding

Genomic Location

Chromosome 20:36890229-36951843

Strand

Reverse strand

Band

q11.23

Transcripts

ENST00000262878	ENSP00000262878
ENST00000465985

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

Orthologs

Species

Mus musculus

Bos taurus

Gene ID

Gene Order

ENSMUSG00000027639

View Gene Order

ENSBTAG00000022007

Not yet available

Cross-References

SwissProt

TrEMBL

UniProt Splice Variant

Entrez Gene

UniGene

Hs.580681

RefSeq

NM_015474

HUGO

OMIM

CCDS

CCDS13288

HPRD

08418

IMGT

EMBL

GenPept

RNA Seq Atlas