deoxynucleoside triphosphate triphosphohydrolase SAMHD1 isoform 1 [Hom - Protein - NCBI (nih.gov)
deoxynucleoside triphosphate triphosphohydrolase SAMHD1 isoform 1 [Homo sapiens]
NCBI Reference Sequence: NP_056289.2
LOCUS NP_056289 626 aa linear PRI 18-SEP-2022
DEFINITION deoxynucleoside triphosphate triphosphohydrolase SAMHD1 isoform 1
[Homo sapiens].
ACCESSION NP_056289
VERSION NP_056289.2
DBSOURCE REFSEQ: accession NM_015474.4
KEYWORDS RefSeq; MANE Select.
SOURCE Homo sapiens (human)
ORGANISM Homo sapiens
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
REFERENCE 1 (residues 1 to 626)
AUTHORS Chen Z, Jiang Z, Meng L, Wang Y, Lin M, Wei Z, Han W, Ying S and Xu
A.
TITLE SAMHD1, positively regulated by KLF4, suppresses the proliferation
of gastric cancer cells through MAPK p38 signaling pathway
JOURNAL Cell Cycle 21 (19), 2065-2078 (2022)
PUBMED 35670736
REMARK GeneRIF: SAMHD1, positively regulated by KLF4, suppresses the
proliferation of gastric cancer cells through MAPK p38 signaling
pathway.
REFERENCE 2 (residues 1 to 626)
AUTHORS Bowen NE, Oo A and Kim B.
TITLE Mechanistic Interplay between HIV-1 Reverse Transcriptase Enzyme
Kinetics and Host SAMHD1 Protein: Viral Myeloid-Cell Tropism and
Genomic Mutagenesis
JOURNAL Viruses 14 (8), 1622 (2022)
PUBMED 35893688
REMARK GeneRIF: Mechanistic Interplay between HIV-1 Reverse Transcriptase
Enzyme Kinetics and Host SAMHD1 Protein: Viral Myeloid-Cell Tropism
and Genomic Mutagenesis.
Review article
Publication Status: Online-Only
REFERENCE 3 (residues 1 to 626)
AUTHORS Resop RS and Bosque A.
TITLE Pharmacological Targeting of Sphingosine Kinases Impedes HIV-1
Infection of CD4 T Cells through SAMHD1 Modulation
JOURNAL J Virol 96 (9), e0009622 (2022)
PUBMED 35412343
REMARK GeneRIF: Pharmacological Targeting of Sphingosine Kinases Impedes
HIV-1 Infection of CD4 T Cells through SAMHD1 Modulation.
REFERENCE 4 (residues 1 to 626)
AUTHORS Oo A, Zandi K, Shepard C, Bassit LC, Musall K, Goh SL, Cho YJ, Kim
DH, Schinazi RF and Kim B.
TITLE Elimination of Aicardi-Goutieres syndrome protein SAMHD1 activates
cellular innate immunity and suppresses SARS-CoV-2 replication
JOURNAL J Biol Chem 298 (3), 101635 (2022)
PUBMED 35085552
REMARK GeneRIF: Elimination of Aicardi-Goutieres syndrome protein SAMHD1
activates cellular innate immunity and suppresses SARS-CoV-2
replication.
REFERENCE 5 (residues 1 to 626)
AUTHORS Rice GI, Bond J, Asipu A, Brunette RL, Manfield IW, Carr IM, Fuller
JC, Jackson RM, Lamb T, Briggs TA, Ali M, Gornall H, Couthard LR,
Aeby A, Attard-Montalto SP, Bertini E, Bodemer C, Brockmann K,
Brueton LA, Corry PC, Desguerre I, Fazzi E, Cazorla AG, Gener B,
Hamel BC, Heiberg A, Hunter M, van der Knaap MS, Kumar R, Lagae L,
Landrieu PG, Lourenco CM, Marom D, McDermott MF, van der Merwe W,
Orcesi S, Prendiville JS, Rasmussen M, Shalev SA, Soler DM, Shinawi
M, Spiegel R, Tan TY, Vanderver A, Wakeling EL, Wassmer E,
Whittaker E, Lebon P, Stetson DB, Bonthron DT and Crow YJ.
TITLE Mutations involved in Aicardi-Goutieres syndrome implicate SAMHD1
as regulator of the innate immune response
JOURNAL Nat Genet 41 (7), 829-832 (2009)
PUBMED 19525956
REMARK GeneRIF: Study describes mutations in SAMHD1 as the cause of
Aicardi-Goutieres syndrome (AGS) at the AGS5 locus and present data
to show that SAMHD1 may act as a negative regulator of the
cell-intrinsic antiviral response.
REFERENCE 6 (residues 1 to 626)
AUTHORS Liao W, Bao Z, Cheng C, Mok YK and Wong WS.
TITLE Dendritic cell-derived interferon-gamma-induced protein mediates
tumor necrosis factor-alpha stimulation of human lung fibroblasts
JOURNAL Proteomics 8 (13), 2640-2650 (2008)
PUBMED 18546154
REMARK GeneRIF: SAMHD1 mediates TNF-alpha stimulation of lung fibroblasts.
REFERENCE 7 (residues 1 to 626)
AUTHORS Li N, Zhang W and Cao X.
TITLE Identification of human homologue of mouse IFN-gamma induced
protein from human dendritic cells
JOURNAL Immunol Lett 74 (3), 221-224 (2000)
PUBMED 11064105
REFERENCE 8 (residues 1 to 626)
AUTHORS Vanderver,A., Tonduti,D., Schiffmann,R., Schmidt,J. and van der
Knaap,M.S.
TITLE Leukodystrophy Overview - RETIRED CHAPTER, FOR HISTORICAL REFERENCE
ONLY
JOURNAL (in) Adam MP, Everman DB, Mirzaa GM, Pagon RA, Wallace SE, Bean
LJH, Gripp KW and Amemiya A (Eds.);
GENEREVIEWS((R));
(1993)
PUBMED 24501781
REFERENCE 9 (residues 1 to 626)
AUTHORS Crow,Y.J.
TITLE Aicardi-Goutieres Syndrome
JOURNAL (in) Adam MP, Everman DB, Mirzaa GM, Pagon RA, Wallace SE, Bean
LJH, Gripp KW and Amemiya A (Eds.);
GENEREVIEWS((R));
(1993)
PUBMED 20301648
REFERENCE 10 (residues 1 to 626)
AUTHORS Klein,C., Lohmann,K., Marras,C. and Munchau,A.
TITLE Hereditary Dystonia Overview
JOURNAL (in) Adam MP, Everman DB, Mirzaa GM, Pagon RA, Wallace SE, Bean
LJH, Gripp KW and Amemiya A (Eds.);
GENEREVIEWS((R));
(1993)
PUBMED 20301334
COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from AK027811.1, AB208944.1,
AK311150.1 and AL079335.29.
On Oct 29, 2003 this sequence version replaced NP_056289.1.
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].
Sequence Note: This RefSeq record was created from transcript and
genomic sequence data to make the sequence consistent with the
reference genome assembly. The genomic coordinates used for the
transcript record were based on transcript alignments.
Publication Note: This RefSeq record includes a subset of the
publications that are available for this gene. Please see the Gene
record to access additional publications.
##Evidence-Data-START##
Transcript exon combination :: SRR11853563.20471.1,
SRR11853566.17342.1 [ECO:0000332]
RNAseq introns :: mixed sample support SAMEA1965299,
SAMEA1966682 [ECO:0006172]
##Evidence-Data-END##
##RefSeq-Attributes-START##
MANE Ensembl match :: ENST00000646673.2/ ENSP00000493536.2
RefSeq Select criteria :: based on manual assertion, conservation,
expression, longest protein
##RefSeq-Attributes-END##
FEATURES Location/Qualifiers source 1..626 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="20" /map="20q11.23" Protein 1..626 /product="deoxynucleoside triphosphate triphosphohydrolase SAMHD1 isoform 1" /EC_number="3.1.5.-" /note="dendritic cell-derived IFNG-induced protein; monocyte protein 5; SAM domain and HD domain-containing protein 1; dNTPase; deoxynucleoside triphosphate triphosphohydrolase SAMHD1; SAM domain and HD domain 1" /calculated_mol_wt=72070 Region 1..36 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q9Y3Z3.2)" Site 1 /site_type="acetylation" /note="N-acetylmethionine. /evidence=ECO:0000269|Ref.8, ECO:0007744|PubMed:19413330; propagated from UniProtKB/Swiss-Prot (Q9Y3Z3.2)" Site 18 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:Q60710; propagated from UniProtKB/Swiss-Prot (Q9Y3Z3.2)" Site 21 /site_type="phosphorylation" /note="Phosphothreonine. /evidence=ECO:0000250|UniProtKB:Q60710; propagated from UniProtKB/Swiss-Prot (Q9Y3Z3.2)" Site 25 /site_type="phosphorylation" /note="Phosphothreonine. /evidence=ECO:0000250|UniProtKB:Q60710; propagated from UniProtKB/Swiss-Prot (Q9Y3Z3.2)" Site 33 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0007744|PubMed:23186163, ECO:0007744|PubMed:24275569; propagated from UniProtKB/Swiss-Prot (Q9Y3Z3.2)" Region 41..110 /region_name="SAM_HD" /note="SAM domain of HD-phosphohydrolase; cd09508" /db_xref="CDD:188907" Site 93 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0007744|PubMed:23186163; propagated from UniProtKB/Swiss-Prot (Q9Y3Z3.2)" Region 115..504 /region_name="YdhJ" /note="HD superfamily phosphohydrolase [General function prediction only]; COG1078" /db_xref="CDD:224004" Site 592 /site_type="phosphorylation" /note="(Microbial infection) Phosphothreonine. /evidence=ECO:0000269|PubMed:31291580, ECO:0000269|PubMed:31548682; Phosphothreonine, by CDK1. /evidence=ECO:0000269|PubMed:23601106, ECO:0000269|PubMed:23602554, ECO:0000269|PubMed:26294762, ECO:0000269|PubMed:26431200, ECO:0000269|PubMed:29610582, ECO:0000269|PubMed:29670289, ECO:0007744|PubMed:17081983, ECO:0007744|PubMed:18669648, ECO:0007744|PubMed:18691976, ECO:0007744|PubMed:19369195, ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:23186163, ECO:0007744|PubMed:24275569; propagated from UniProtKB/Swiss-Prot (Q9Y3Z3.2)" CDS 1..626 /gene="SAMHD1" /gene_synonym="CHBL2; DCIP; HDDC1; hSAMHD1; MOP-5; SBBI88" /coded_by="NM_015474.4:66..1946" /note="isoform 1 is encoded by transcript variant 1" /db_xref="CCDS:CCDS13288.1" /db_xref="GeneID:25939" /db_xref="HGNC:HGNC:15925" /db_xref="MIM:606754" ORIGIN 1 mqradseqps krprcddspr tpsntpsaea dwspglelhp dyktwgpeqv csflrrggfe 61 epvllknire neitgallpc ldesrfenlg vsslgerkkl lsyiqrlvqi hvdtmkvind 121 pihghielhp llvriidtpq fqrlryikql gggyyvfpga shnrfehslg vgylagclvh 181 algekqpelq iserdvlcvq iaglchdlgh gpfshmfdgr fiplarpevk wtheqgsvmm 241 fehlinsngi kpvmeqygli peedicfike qivgplespv edslwpykgr penksflyei 301 vsnkrngidv dkwdyfardc hhlgiqnnfd ykrfikfarv cevdnelric ardkevgnly 361 dmfhtrnslh rrayqhkvgn iidtmitdaf lkaddyieit gaggkkyris taiddmeayt 421 kltdniflei lystdpklkd areilkqiey rnlfkyvget qptgqikikr edyeslpkev 481 asakpkvlld vklkaedfiv dvinmdygmq eknpidhvsf ycktapnrai ritknqvsql 541 lpekfaeqli rvyckkvdrk slyaarqyfv qwcadrnftk pqdgdviapl itpqkkewnd 601 stsvqnptrl reasksrvql fkddpm //
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