• Gene id: 25939

Gene Summary

• Gene Symbol: SAMHD1   Gene   UCSC   Ensembl
• Aliases: CHBL2, DCIP, HDDC1, MOP-5, SBBI88, hSAMHD1
• Gene name: SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1
• Alternate names: deoxynucleoside triphosphate triphosphohydrolase SAMHD1, SAM domain and HD domain 1, SAM domain and HD domain-containing protein 1, dNTPase, dendritic cell-derived IFNG-induced protein, monocyte protein 5,
• Gene location: 20q11.23 (36951707: 36889772)     Exons: 16     NC_000020.11
• Gene summary(Entrez): 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
• OMIM: 606754

Protein Summary

• Protein general information: Q9Y3Z3  
  • Name: Deoxynucleoside triphosphate triphosphohydrolase SAMHD1 (dNTPase) (EC 3.1.5. ) (Dendritic cell derived IFNG induced protein) (DCIP) (Monocyte protein 5) (MOP 5) (SAM domain and HD domain containing protein 1) (hSAMHD1)
  • Length: 626  
  • Mass: 72201
  • Tissue specificity: Expressed in heart, skeletal muscle, spleen, liver, small intestine, placenta, lung and peripheral blood leukocytes (PubMed
• Sequence:

  MQRADSEQPSKRPRCDDSPRTPSNTPSAEADWSPGLELHPDYKTWGPEQVCSFLRRGGFEEPVLLKNIRENEITG
  ALLPCLDESRFENLGVSSLGERKKLLSYIQRLVQIHVDTMKVINDPIHGHIELHPLLVRIIDTPQFQRLRYIKQL
  GGGYYVFPGASHNRFEHSLGVGYLAGCLVHALGEKQPELQISERDVLCVQIAGLCHDLGHGPFSHMFDGRFIPLA
  RPEVKWTHEQGSVMMFEHLINSNGIKPVMEQYGLIPEEDICFIKEQIVGPLESPVEDSLWPYKGRPENKSFLYEI
  VSNKRNGIDVDKWDYFARDCHHLGIQNNFDYKRFIKFARVCEVDNELRICARDKEVGNLYDMFHTRNSLHRRAYQ
  HKVGNIIDTMITDAFLKADDYIEITGAGGKKYRISTAIDDMEAYTKLTDNIFLEILYSTDPKLKDAREILKQIEY
  RNLFKYVGETQPTGQIKIKREDYESLPKEVASAKPKVLLDVKLKAEDFIVDVINMDYGMQEKNPIDHVSFYCKTA
  PNRAIRITKNQVSQLLPEKFAEQLIRVYCKKVDRKSLYAARQYFVQWCADRNFTKPQDGDVIAPLITPQKKEWND
  STSVQNPTRLREASKSRVQLFKDDPM

• Structural information:
  • Protein Domains: (45..11-)
    (/note="SAM-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00184-)
    (164..31-)
    (/note="HD-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01175"-)
  • Interpro: IPR003607  IPR006674  IPR001660  IPR013761  
  • Prosite: PS51831 PS50105
  • CDD: cd00077
  • PDB: 2E8O 3U1N 4BZB 4BZC 4CC9 4MZ7 4Q7H 4QFX 4QFY 4QFZ 4QG0 4QG1 4QG2 4QG4 4RXO 4RXP 4RXQ 4RXR 4RXS 4TNP 4TNQ 4TNR 4TNX 4TNY 4TNZ 4TO0 4TO1 4TO2 4TO3 4TO4 4TO5 4TO6 4ZWE 4ZWG 5AO0 5AO1 5AO2 5AO3 5AO4 6CM2 6DW3 6DW4 6DW5 6DW7 6DWD 6DWJ 6DWK
  • PDBsum: 2E8O 3U1N 4BZB 4BZC 4CC9 4MZ7 4Q7H 4QFX 4QFY 4QFZ 4QG0 4QG1 4QG2 4QG4 4RXO 4RXP 4RXQ 4RXR 4RXS 4TNP 4TNQ 4TNR 4TNX 4TNY 4TNZ 4TO0 4TO1 4TO2 4TO3 4TO4 4TO5 4TO6 4ZWE 4ZWG 5AO0 5AO1 5AO2 5AO3 5AO4 6CM2 6DW3 6DW4 6DW5 6DW7 6DWD 6DWJ 6DWK
  • DIP: 50704
  • STRING: ENSP00000262878
• Other Databases: GeneCards:  SAMHD1  Malacards:  SAMHD1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005634	nucleus	IBA	cellular component
GO:0008832	dGTPase activity	IBA	molecular function
GO:0045088	regulation of innate immune response	IBA	biological process
GO:0006203	dGTP catabolic process	IBA	biological process
GO:0051607	defense response to virus	IBA	biological process
GO:0046061	dATP catabolic process	IDA	biological process
GO:0032567	dGTP binding	IDA	molecular function
GO:0008832	dGTPase activity	IDA	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0003723	RNA binding	IDA	molecular function
GO:0003676	nucleic acid binding	IDA	molecular function
GO:0051289	protein homotetramerization	IDA	biological process
GO:0008270	zinc ion binding	IDA	molecular function
GO:0006203	dGTP catabolic process	IDA	biological process
GO:0051289	protein homotetramerization	IDA	biological process
GO:0051607	defense response to virus	IDA	biological process
GO:0051289	protein homotetramerization	IDA	biological process
GO:0051607	defense response to virus	IDA	biological process
GO:0004540	ribonuclease activity	IDA	molecular function
GO:0060339	negative regulation of type I interferon-mediated signaling pathway	IDA	biological process
GO:0045088	regulation of innate immune response	IDA	biological process
GO:0004540	ribonuclease activity	IDA	NOT|molecular function
GO:0000724	double-strand break repair via homologous recombination	IDA	biological process
GO:0006974	cellular response to DNA damage stimulus	IDA	biological process
GO:0110025	DNA strand resection involved in replication fork processing	IDA	biological process
GO:0035861	site of double-strand break	IDA	cellular component
GO:0003697	single-stranded DNA binding	IDA	molecular function
GO:0000724	double-strand break repair via homologous recombination	IDA	biological process
GO:0006974	cellular response to DNA damage stimulus	IDA	biological process
GO:0110025	DNA strand resection involved in replication fork processing	IDA	biological process
GO:0035861	site of double-strand break	IDA	cellular component
GO:0009264	deoxyribonucleotide catabolic process	IDA	biological process
GO:0016793	triphosphoric monoester hydrolase activity	IDA	molecular function
GO:0008832	dGTPase activity	IDA	molecular function
GO:0009264	deoxyribonucleotide catabolic process	IDA	biological process
GO:0016793	triphosphoric monoester hydrolase activity	IDA	molecular function
GO:0008832	dGTPase activity	IDA	molecular function
GO:0097197	tetraspanin-enriched microdomain	IDA	cellular component
GO:0051607	defense response to virus	IMP	biological process
GO:0016446	somatic hypermutation of immunoglobulin genes	ISS	biological process
GO:0045088	regulation of innate immune response	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0002376	immune system process	IEA	biological process
GO:0051607	defense response to virus	IEA	biological process
GO:0005525	GTP binding	IEA	molecular function
GO:0008152	metabolic process	IEA	biological process
GO:0006260	DNA replication	IEA	biological process
GO:0006281	DNA repair	IEA	biological process
GO:0045087	innate immune response	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005694	chromosome	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0016032	viral process	IEA	biological process
GO:0006974	cellular response to DNA damage stimulus	IEA	biological process
GO:0003824	catalytic activity	IEA	molecular function
GO:0009264	deoxyribonucleotide catabolic process	TAS	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0060337	type I interferon signaling pathway	TAS	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0051607	defense response to virus	IEA	biological process
GO:0051289	protein homotetramerization	IEA	biological process
GO:0016446	somatic hypermutation of immunoglobulin genes	IEA	biological process
GO:0060339	negative regulation of type I interferon-mediated signaling pathway	IEA	biological process
GO:0016793	triphosphoric monoester hydrolase activity	IEA	molecular function
GO:0008832	dGTPase activity	IEA	molecular function
GO:0005694	chromosome	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0090501	RNA phosphodiester bond hydrolysis	IEA	biological process
GO:0090501	RNA phosphodiester bond hydrolysis	IEA	biological process
GO:0006955	immune response	NAS	biological process

KEGG pathways

Pathway id	Pathway name
hsa05170	Human immunodeficiency virus 1 infection

Diseases

Associated diseases	References
Aicardi-Goutieres syndrome	KEGG:H00290
Aicardi-Goutieres syndrome	KEGG:H00290
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881