LOCUS       NM_015474               4649 bp    mRNA    linear   PRI 12-FEB-2025
DEFINITION  Homo sapiens SAM and HD domain containing deoxynucleoside
            triphosphate triphosphohydrolase 1 (SAMHD1), transcript variant 1,
            mRNA.
ACCESSION   NM_015474
VERSION     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  (bases 1 to 4649)
  AUTHORS   Qiang,P., Chen,Y., Shao,Y., Deng,Q., Xu,S. and Zhu,W.
  TITLE     Deciphering the role of SAMHD1 in endometrial cancer progression
  JOURNAL   Biol Direct 19 (1), 89 (2024)
   PUBMED   39394602
  REMARK    GeneRIF: Deciphering the role of SAMHD1 in endometrial cancer
            progression.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 4649)
  AUTHORS   Bulnes-Ramos,A., Schott,K., Rabinowitz,J., Luchsinger,C.,
            Bertelli,C., Miyagi,E., Yu,C.H., Persaud,M., Shepard,C., Konig,R.,
            Kim,B., Ivanov,D.N., Strebel,K. and Diaz-Griffero,F.
  TITLE     Acetylation of SAMHD1 at lysine 580 is crucial for blocking HIV-1
            infection
  JOURNAL   mBio 15 (9), e0195824 (2024)
   PUBMED   39162568
  REMARK    GeneRIF: Acetylation of SAMHD1 at lysine 580 is crucial for
            blocking HIV-1 infection.
REFERENCE   3  (bases 1 to 4649)
  AUTHORS   Zhang,L., Wang,W., Chen,T., Cui,J., Li,X., Liu,A., Liu,R., Fang,L.,
            Jiang,J., Yang,L., Wu,D. and Ying,S.
  TITLE     SAMHD1 dysfunction induces IL-34 expression via NF-kappaB p65 in
            neuronal SH-SY5Y cells
  JOURNAL   Mol Immunol 168, 1-9 (2024)
   PUBMED   38367301
  REMARK    GeneRIF: SAMHD1 dysfunction induces IL-34 expression via NF-kappaB
            p65 in neuronal SH-SY5Y cells.
REFERENCE   4  (bases 1 to 4649)
  AUTHORS   Karla,A.R., Pinard,A., Boerio,M.L., Hemelsoet,D., Tavernier,S.J.,
            De Pauw,M., Vereecke,E., Fraser,S., Bamshad,M.J., Guo,D.,
            Callewaert,B. and Milewicz,D.M.
  TITLE     SAMHD1 compound heterozygous rare variants associated with moyamoya
            and mitral valve disease in the absence of other features of
            Aicardi-Goutieres syndrome
  JOURNAL   Am J Med Genet A 194 (4), e63486 (2024)
   PUBMED   38041217
  REMARK    GeneRIF: SAMHD1 compound heterozygous rare variants associated with
            moyamoya and mitral valve disease in the absence of other features
            of Aicardi-Goutieres syndrome.
REFERENCE   5  (bases 1 to 4649)
  AUTHORS   Rice,G.I., Bond,J., Asipu,A., Brunette,R.L., Manfield,I.W.,
            Carr,I.M., Fuller,J.C., Jackson,R.M., Lamb,T., Briggs,T.A., Ali,M.,
            Gornall,H., Couthard,L.R., Aeby,A., Attard-Montalto,S.P.,
            Bertini,E., Bodemer,C., Brockmann,K., Brueton,L.A., Corry,P.C.,
            Desguerre,I., Fazzi,E., Cazorla,A.G., Gener,B., Hamel,B.C.,
            Heiberg,A., Hunter,M., van der Knaap,M.S., Kumar,R., Lagae,L.,
            Landrieu,P.G., Lourenco,C.M., Marom,D., McDermott,M.F., van der
            Merwe,W., Orcesi,S., Prendiville,J.S., Rasmussen,M., Shalev,S.A.,
            Soler,D.M., Shinawi,M., Spiegel,R., Tan,T.Y., Vanderver,A.,
            Wakeling,E.L., Wassmer,E., Whittaker,E., Lebon,P., Stetson,D.B.,
            Bonthron,D.T. and Crow,Y.J.
  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  (bases 1 to 4649)
  AUTHORS   Liao,W., Bao,Z., Cheng,C., Mok,Y.K. and Wong,W.S.
  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  (bases 1 to 4649)
  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  (bases 1 to 4649)
  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, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   24501781
REFERENCE   9  (bases 1 to 4649)
  AUTHORS   Crow,Y.J.
  TITLE     Aicardi-Goutieres Syndrome
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301648
REFERENCE   10 (bases 1 to 4649)
  AUTHORS   Klein,C., Lohmann,K., Marras,C. and Munchau,A.
  TITLE     Hereditary Dystonia Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE 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 Nov 21, 2019 this sequence version replaced NM_015474.3.
            
            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##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-2184              AK027811.1         109-2292
            2185-2934           AB208944.1         2145-2894
            2935-3054           AK311150.1         1400-1519
            3055-4649           AL079335.29        51342-52936         c
FEATURES             Location/Qualifiers
     source          1..4649
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20q11.23"
     gene            1..4649
                     /gene="SAMHD1"
                     /gene_synonym="CHBL2; DCIP; HDDC1; hSAMHD1; MOP-5; SBBI88"
                     /note="SAM and HD domain containing deoxynucleoside
                     triphosphate triphosphohydrolase 1"
                     /db_xref="GeneID:25939"
                     /db_xref="HGNC:HGNC:15925"
                     /db_xref="MIM:606754"
     exon            1..273
                     /gene="SAMHD1"
                     /gene_synonym="CHBL2; DCIP; HDDC1; hSAMHD1; MOP-5; SBBI88"
                     /inference="alignment:Splign:2.1.0"
     CDS             66..1946
                     /gene="SAMHD1"
                     /gene_synonym="CHBL2; DCIP; HDDC1; hSAMHD1; MOP-5; SBBI88"
                     /EC_number="3.1.5.-"
                     /note="isoform 1 is encoded by transcript variant 1;
                     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"
                     /codon_start=1
                     /product="deoxynucleoside triphosphate triphosphohydrolase
                     SAMHD1 isoform 1"
                     /protein_id="NP_056289.2"
                     /db_xref="CCDS:CCDS13288.1"
                     /db_xref="GeneID:25939"
                     /db_xref="HGNC:HGNC:15925"
                     /db_xref="MIM:606754"
                     /translation="MQRADSEQPSKRPRCDDSPRTPSNTPSAEADWSPGLELHPDYKT
                     WGPEQVCSFLRRGGFEEPVLLKNIRENEITGALLPCLDESRFENLGVSSLGERKKLLS
                     YIQRLVQIHVDTMKVINDPIHGHIELHPLLVRIIDTPQFQRLRYIKQLGGGYYVFPGA
                     SHNRFEHSLGVGYLAGCLVHALGEKQPELQISERDVLCVQIAGLCHDLGHGPFSHMFD
                     GRFIPLARPEVKWTHEQGSVMMFEHLINSNGIKPVMEQYGLIPEEDICFIKEQIVGPL
                     ESPVEDSLWPYKGRPENKSFLYEIVSNKRNGIDVDKWDYFARDCHHLGIQNNFDYKRF
                     IKFARVCEVDNELRICARDKEVGNLYDMFHTRNSLHRRAYQHKVGNIIDTMITDAFLK
                     ADDYIEITGAGGKKYRISTAIDDMEAYTKLTDNIFLEILYSTDPKLKDAREILKQIEY
                     RNLFKYVGETQPTGQIKIKREDYESLPKEVASAKPKVLLDVKLKAEDFIVDVINMDYG
                     MQEKNPIDHVSFYCKTAPNRAIRITKNQVSQLLPEKFAEQLIRVYCKKVDRKSLYAAR
                     QYFVQWCADRNFTKPQDGDVIAPLITPQKKEWNDSTSVQNPTRLREASKSRVQLFKDD
                     PM"
     exon            274..340
                     /gene="SAMHD1"
                     /gene_synonym="CHBL2; DCIP; HDDC1; hSAMHD1; MOP-5; SBBI88"
                     /inference="alignment:Splign:2.1.0"
     exon            341..413
                     /gene="SAMHD1"
                     /gene_synonym="CHBL2; DCIP; HDDC1; hSAMHD1; MOP-5; SBBI88"
                     /inference="alignment:Splign:2.1.0"
     exon            414..574
                     /gene="SAMHD1"
                     /gene_synonym="CHBL2; DCIP; HDDC1; hSAMHD1; MOP-5; SBBI88"
                     /inference="alignment:Splign:2.1.0"
     exon            575..690
                     /gene="SAMHD1"
                     /gene_synonym="CHBL2; DCIP; HDDC1; hSAMHD1; MOP-5; SBBI88"
                     /inference="alignment:Splign:2.1.0"
     exon            691..761
                     /gene="SAMHD1"
                     /gene_synonym="CHBL2; DCIP; HDDC1; hSAMHD1; MOP-5; SBBI88"
                     /inference="alignment:Splign:2.1.0"
     exon            762..917
                     /gene="SAMHD1"
                     /gene_synonym="CHBL2; DCIP; HDDC1; hSAMHD1; MOP-5; SBBI88"
                     /inference="alignment:Splign:2.1.0"
     exon            918..1018
                     /gene="SAMHD1"
                     /gene_synonym="CHBL2; DCIP; HDDC1; hSAMHD1; MOP-5; SBBI88"
                     /inference="alignment:Splign:2.1.0"
     exon            1019..1127
                     /gene="SAMHD1"
                     /gene_synonym="CHBL2; DCIP; HDDC1; hSAMHD1; MOP-5; SBBI88"
                     /inference="alignment:Splign:2.1.0"
     exon            1128..1219
                     /gene="SAMHD1"
                     /gene_synonym="CHBL2; DCIP; HDDC1; hSAMHD1; MOP-5; SBBI88"
                     /inference="alignment:Splign:2.1.0"
     exon            1220..1335
                     /gene="SAMHD1"
                     /gene_synonym="CHBL2; DCIP; HDDC1; hSAMHD1; MOP-5; SBBI88"
                     /inference="alignment:Splign:2.1.0"
     exon            1336..1475
                     /gene="SAMHD1"
                     /gene_synonym="CHBL2; DCIP; HDDC1; hSAMHD1; MOP-5; SBBI88"
                     /inference="alignment:Splign:2.1.0"
     exon            1476..1568
                     /gene="SAMHD1"
                     /gene_synonym="CHBL2; DCIP; HDDC1; hSAMHD1; MOP-5; SBBI88"
                     /inference="alignment:Splign:2.1.0"
     exon            1569..1673
                     /gene="SAMHD1"
                     /gene_synonym="CHBL2; DCIP; HDDC1; hSAMHD1; MOP-5; SBBI88"
                     /inference="alignment:Splign:2.1.0"
     exon            1674..1811
                     /gene="SAMHD1"
                     /gene_synonym="CHBL2; DCIP; HDDC1; hSAMHD1; MOP-5; SBBI88"
                     /inference="alignment:Splign:2.1.0"
     exon            1812..4649
                     /gene="SAMHD1"
                     /gene_synonym="CHBL2; DCIP; HDDC1; hSAMHD1; MOP-5; SBBI88"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4630..4635
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SAMHD1"
                     /gene_synonym="CHBL2; DCIP; HDDC1; hSAMHD1; MOP-5; SBBI88"
                     /note="hexamer: AATAAA"
     polyA_site      4649
                     /gene="SAMHD1"
                     /gene_synonym="CHBL2; DCIP; HDDC1; hSAMHD1; MOP-5; SBBI88"
                     /note="major polyA site"
ORIGIN      
        1 agtgcgcctg cgcgcgggtc cggcgccgag gttcttgact gctgtgccgg acgccaggtg
       61 tagccatgca gcgagccgat tccgagcagc cctccaagcg tccccgttgc gatgacagcc
      121 cgagaacccc ctcaaacacc ccttccgcag aggcagactg gtccccgggc ctggaactcc
      181 atcccgacta caagacatgg ggtccggagc aggtgtgctc cttcctcagg cgcggtggct
      241 ttgaagagcc ggtgctgctg aagaacatcc gagaaaatga aatcacaggc gcattactgc
      301 cttgtcttga tgagtctcgt tttgaaaatc ttggagtaag ttccttgggg gagaggaaga
      361 agctgcttag ttatatccag cgattggttc aaatccacgt tgatacaatg aaggtaatta
      421 atgatcctat ccatggccac attgagctcc accctctcct cgtccgaatc attgatacac
      481 ctcaatttca acgtcttcga tacatcaaac agctgggagg tggttactat gtttttccag
      541 gagcttcaca caatcgattt gagcatagtc taggggtggg gtatctagca ggatgtctag
      601 ttcacgcact gggtgaaaaa caaccagagc tgcagataag tgaacgagat gttctctgtg
      661 ttcagattgc tggactttgt catgatctcg gtcatgggcc attttctcac atgtttgatg
      721 gacgatttat tccacttgct cgcccggagg tgaaatggac gcatgaacaa ggctcagtta
      781 tgatgtttga gcaccttatt aattctaatg gaattaagcc tgtcatggaa caatatggtc
      841 tcatccctga agaagatatt tgctttataa aggaacaaat tgtaggacca cttgaatcac
      901 ctgtcgaaga ttcattgtgg ccatataaag ggcgtcctga aaacaaaagc ttcctttatg
      961 agatagtatc taataaaaga aatggcattg atgtggacaa atgggattat tttgccaggg
     1021 actgccatca tcttggaatc caaaataatt ttgattacaa gcgctttatt aagtttgccc
     1081 gtgtctgtga agtagacaat gagttgcgta tttgtgctag agataaggaa gttggaaatc
     1141 tgtatgacat gttccacact cgcaactctt tacaccgtag agcttatcaa cacaaagttg
     1201 gcaacattat tgatacaatg attacagatg ctttcctcaa agcagatgac tacatagaga
     1261 ttacaggtgc tggaggaaaa aagtatcgca tttctacagc aattgacgac atggaagcct
     1321 atactaagct gacagataac atttttctgg agattttata ctctactgat cccaaattga
     1381 aagacgcacg agagatttta aaacaaattg aataccgtaa tctattcaag tatgtgggtg
     1441 agacgcagcc aacaggacaa ataaagatta aaagggagga ctatgaatct cttccaaaag
     1501 aggttgccag tgctaaaccc aaagtattgc tagacgtgaa actgaaggct gaagatttta
     1561 tagtggatgt tatcaacatg gattatggaa tgcaagaaaa gaatccaatt gatcatgtta
     1621 gcttctattg taagactgcc cccaacagag caatcaggat tactaaaaac caggtttcac
     1681 aacttctgcc agagaaattt gcagagcagc tgattcgagt atattgtaag aaggtggaca
     1741 gaaagagttt gtatgccgca agacaatatt ttgttcagtg gtgtgcagac agaaatttca
     1801 ccaagccgca ggatggcgat gttatagccc cactcataac acctcaaaaa aaggaatgga
     1861 acgacagtac ttcagtccaa aatccaactc gcctccgaga agcatccaaa agcagagtcc
     1921 agctttttaa agatgaccca atgtgaatgt ctgtagtcag ttgtttacaa actccctctc
     1981 ctgcacaatt catttagagg cttcaatcat agaattctgc aaattaatga caactcatgc
     2041 tttaattttg tattttgaat gtacacgcat gctgaagcta agtaactttt aatcaaagaa
     2101 ataagatggt attaggcaaa tcttactata ctatgaaaag cattaccttg cctattttta
     2161 atattattaa agcctttctc cttcagtagt ctattttctt agaataacaa ctcttttatc
     2221 tattctgaac tctatttttt ttctttttta agagacaagg ttttgctctg ttgcccagct
     2281 tggactcgaa ctttcctggg ctcaagcgac cctcctgcct cagcccccca agtagctggg
     2341 actaaagtca tgtgccacca cacccagctt actctgaact tttatgacag atgattgttt
     2401 tttgttttta atgtagaaat gagacaaggg tacaaattgg aactagaaat tgacattgtc
     2461 attgacaaac atggctaaaa acaaaacatc aaatcctgcc cccgtgaaga gttccctgtc
     2521 acctcaagtt tgaggatagt cctctaagag tgacctaagc ataagtgaaa gacacctccc
     2581 ctcacccttc tagcccccta caaggtgcca ggttggggta aagagttgga gatgatggcc
     2641 aggagtggcc tccaacacgc tggtgagagg cctgattagg ttttggggaa gatctgagag
     2701 ctctggcctc ttcgtgagtg gaacataaag ccgcctcttg ttgggagatc ctaccccagt
     2761 gacagaggaa tcccccaaac taggctgtgc cctggctccg tggcggctcc agacccgggt
     2821 agtgcctttg tcccctgaat actcactccc ccggtccaga gggccttccc actgcccagc
     2881 ctggagaagg cctcccctga cctgctctct cagtatcctg gagagctggc cagaggccat
     2941 cacaggcatc atcctcagag ctcctcagac ctgggacttt gtttttgctg gttcagtgca
     3001 ttttgtgtat ttaagagcaa acactagcca ggcgtggcgg cgtgtgcctg tagtcccagc
     3061 tacttgggag gctgaggcag gaggattgct cgaacctggg aggcggaggt tgcagtgagc
     3121 ctagatcacg ccattgcact ccagcctggg tgacagagtg agactccatc tccaaaaaaa
     3181 aaagcacaaa cactgcactg cctgtgctga aattagtgac cacccagtgg gctccaggct
     3241 ccgctaggta acttcgtttt cccagcagtg gagtgggcac caccttggtg gggcagtgcc
     3301 cctgtgccca gggcacacct cattcccagt tctatagcaa ttcaccaaga acaaagtctg
     3361 cagttagagc caaagctggt ggtggccaga gggtgctgaa gatacaggcc agtggggatg
     3421 ggagccatga gccccgaatg tcttctgctc tgatgctccc cggactaagc ctccctggca
     3481 cactgggagt gaggggcagc ctgagcaagt aggggaactc agaccacagg ccagcagatt
     3541 tcccagcagt ccatcactgg ccaccgtgta gccagattct gttccgtcca cactggggtg
     3601 aagagtactt ggaatgtctg ccatcctgta tgatcacccc accccctgtc catccatcag
     3661 tagataataa gggttggtta caattcataa gagaatagtt aaaacacttc tcctctcatg
     3721 cctaccatgg tgctgtatca aggggatttg ttcacatatg ggctcagcaa cgcacaagtg
     3781 aggtcagcca tggcactagg tcattcccat tttagccaag gtgcctctat aggggtcaga
     3841 catcatgtgc ccagacctaa ggtcaggaat gtcatatttt tctgttaaaa tcattttatt
     3901 tctgtgtatc ttacctttaa atcattgtgg tttactctga gattctgtag tcctaatatt
     3961 gtatcattgt gctgtctgca aaacaacttg aatctatttt gtttgcatct tttgttacat
     4021 gtaacgcagc tgtactttat gttctttgca actgtttcca ttatgagaac gctgtgctat
     4081 ttacaaggtt acatttttct tggccaggcg aggtggtcat gcctgtaatc ccagcacttt
     4141 gggaggccaa ggtgggcgga tcacttgagg taaagagttg agaccagcct ggctagcatg
     4201 gcgaaaccca gtctctacta aaaatacaaa aattagccgg gtgaaattag ccgggcgtgg
     4261 tggtgtgtgc ttgtaatccc agctactcgg gaggctgagg caggagaatc gcttgaatcc
     4321 gggaggcaga ggttgcagtg agccaagatc aggccactgc actccagcct cggggtcaag
     4381 agcgaaactc tgtctcaaac aaaaagaaag aaaggaagga aggaaggagg gaaggaagga
     4441 aggaaagaga gaaagaaaag aaagaaagaa agaaagaaag agaaagaaat atctttgcta
     4501 tttgtataaa aatggaaatt ttaacagctt agcctctaga gagttactga acgtggttac
     4561 cttgggaatg taaatagaac tgcaaattaa aatgactggc cacttcaact gggtaaggga
     4621 aacagctgca ataaagcttc gtgaatata
//
