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General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1
Protein classi
Assigned HPA protein class(es) for the encoded protein(s).
Disease related genes Human disease related genes Plasma proteins
Predicted locationi
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome
20
Cytoband
q11.23
Chromosome location (bp)
36890229 - 36951893
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Protein that acts both as a host restriction factor involved in defense response to virus and as a regulator of DNA end resection at stalled replication forks 1,2,3,4,5,6,7,8,9,10,11,12. Has deoxynucleoside triphosphate (dNTPase) activity, which is required to restrict infection by viruses, such as HIV-1: dNTPase activity reduces cellular dNTP levels to levels too low for retroviral reverse transcription to occur, blocking early-stage virus replication in dendritic and other myeloid cells 13,14,15,16,17,18,19,20,21,22,23,24,25. Likewise, suppresses LINE-1 retrotransposon activity 26,27,28. Not able to restrict infection by HIV-2 virus; because restriction activity is counteracted by HIV-2 viral protein Vpx 29,30. In addition to virus restriction, dNTPase activity acts as a regulator of DNA precursor pools by regulating dNTP pools 31. Phosphorylation at Thr-592 acts as a switch to control dNTPase-dependent and -independent functions: it inhibits dNTPase activity and ability to restrict infection by viruses, while it promotes DNA end resection at stalled replication forks 32,33,34,35. Functions during S phase at stalled DNA replication forks to promote the resection of gapped or reversed forks: acts by stimulating the exonuclease activity of MRE11, activating the ATR-CHK1 pathway and allowing the forks to restart replication 36. Its ability to promote degradation of nascent DNA at stalled replication forks is required to prevent induction of type I interferons, thereby preventing chronic inflammation 37,38. Ability to promote DNA end resection at stalled replication forks is independent of dNTPase activity 39. Enhances immunoglobulin hypermutation in B-lymphocytes by promoting transversion mutation (By similarity)....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Allosteric enzyme, Hydrolase
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
Antiviral defense, DNA damage, DNA repair, DNA replication, Host-virus interaction, Immunity, Innate immunity
Ligand (UniProt)i
Keywords assigned by UniProt to proteins because they bind, are associated with, or whose activity is dependent of some molecule.
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]...show less
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Disease related genes Human disease related genes Immune system diseases Other immune system diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Immune system diseases Other immune system diseases Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Immune system diseases Other immune system diseases Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Immune system diseases Other immune system diseases Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Disease related genes Human disease related genes Immune system diseases Other immune system diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Disease related genes Human disease related genes Immune system diseases Other immune system diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
The Human Protein Atlas project is funded
