LOCUS       NM_006714               1763 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens sphingomyelin phosphodiesterase acid like 3A
            (SMPDL3A), transcript variant 1, mRNA.
ACCESSION   NM_006714
VERSION     NM_006714.5
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 1763)
  AUTHORS   Hou,Y., Wang,Z., Liu,P., Wei,X., Zhang,Z., Fan,S., Zhang,L.,
            Han,F., Song,Y., Chu,L. and Zhang,C.
  TITLE     SMPDL3A is a cGAMP-degrading enzyme induced by LXR-mediated lipid
            metabolism to restrict cGAS-STING DNA sensing
  JOURNAL   Immunity 56 (11), 2492-2507 (2023)
   PUBMED   37890481
REFERENCE   2  (bases 1 to 1763)
  AUTHORS   Jeske,J., Bitter,A., Thasler,W.E., Weiss,T.S., Schwab,M. and
            Burk,O.
  TITLE     Ligand-dependent and -independent regulation of human hepatic
            sphingomyelin phosphodiesterase acid-like 3A expression by pregnane
            X receptor and crosstalk with liver X receptor
  JOURNAL   Biochem Pharmacol 136, 122-135 (2017)
   PUBMED   28414139
  REMARK    GeneRIF: Activation of pregnane X receptor induces SMPDL3A
            expression in primary hepatocytes.
REFERENCE   3  (bases 1 to 1763)
  AUTHORS   Traini,M., Kumaran,R., Thaysen-Andersen,M., Kockx,M., Jessup,W. and
            Kritharides,L.
  TITLE     N-glycosylation of human sphingomyelin phosphodiesterase acid-like
            3A (SMPDL3A) is essential for stability, secretion and activity
  JOURNAL   Biochem J 474 (7), 1071-1092 (2017)
   PUBMED   28104755
  REMARK    GeneRIF: Site-specific N-glycosylation is essential for the
            intracellular stability, secretion and activity of human SMPDL3A.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1763)
  AUTHORS   Lim,S.M., Yeung,K., Tresaugues,L., Ling,T.H. and Nordlund,P.
  TITLE     The structure and catalytic mechanism of human sphingomyelin
            phosphodiesterase like 3a--an acid sphingomyelinase homologue with
            a novel nucleotide hydrolase activity
  JOURNAL   FEBS J 283 (6), 1107-1123 (2016)
   PUBMED   26783088
  REMARK    GeneRIF: Solved the structure of SMPDL3a revealing a
            calcineurin-like fold. A dimetal site, glycosylation pattern and a
            disulfide bond network are likely to be conserved also in aSMase.
            We show that the binuclear site of SMPDL3a is occupied by two
            Zn(2+) ions.
REFERENCE   5  (bases 1 to 1763)
  AUTHORS   Traini,M., Quinn,C.M., Sandoval,C., Johansson,E., Schroder,K.,
            Kockx,M., Meikle,P.J., Jessup,W. and Kritharides,L.
  TITLE     Sphingomyelin phosphodiesterase acid-like 3A (SMPDL3A) is a novel
            nucleotide phosphodiesterase regulated by cholesterol in human
            macrophages
  JOURNAL   J Biol Chem 289 (47), 32895-32913 (2014)
   PUBMED   25288789
  REMARK    GeneRIF: Data indicate that sphingomyelin phosphodiesterase
            acid-like 3A (SMPDL3A) is a nucleotide phosphodiesterase secreted
            from cholesterol-loaded macrophages.
REFERENCE   6  (bases 1 to 1763)
  AUTHORS   Noto,P.B., Bukhtiyarov,Y., Shi,M., McKeever,B.M., McGeehan,G.M. and
            Lala,D.S.
  TITLE     Regulation of sphingomyelin phosphodiesterase acid-like 3A gene
            (SMPDL3A) by liver X receptors
  JOURNAL   Mol Pharmacol 82 (4), 719-727 (2012)
   PUBMED   22810003
  REMARK    GeneRIF: the induction of SMPDL3A is liver X receptor-dependent and
            is restricted to human blood cells with no induction observed in
            mouse cellular systems.
REFERENCE   7  (bases 1 to 1763)
  AUTHORS   Wright,K.O., Messing,E.M. and Reeder,J.E.
  TITLE     Increased expression of the acid sphingomyelinase-like protein
            ASML3a in bladder tumors
  JOURNAL   J Urol 168 (6), 2645-2649 (2002)
   PUBMED   12442002
  REMARK    GeneRIF: ASML3a is involved in the process of bladder tumorigenesis
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DA510600.1, BC018999.2 and Y08136.1.
            
            On Nov 23, 2018 this sequence version replaced NM_006714.4.
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (a).
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK000184.1, SRR5189664.158610.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000368440.5/ ENSP00000357425.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-21                DA510600.1         210-230
            22-1581             BC018999.2         1-1560
            1582-1763           Y08136.1           667-848
FEATURES             Location/Qualifiers
     source          1..1763
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q22.31"
     gene            1..1763
                     /gene="SMPDL3A"
                     /gene_synonym="ASM3A; ASML3a; yR36GH4.1"
                     /note="sphingomyelin phosphodiesterase acid like 3A"
                     /db_xref="GeneID:10924"
                     /db_xref="HGNC:HGNC:17389"
                     /db_xref="MIM:610728"
     exon            1..201
                     /gene="SMPDL3A"
                     /gene_synonym="ASM3A; ASML3a; yR36GH4.1"
                     /inference="alignment:Splign:2.1.0"
     CDS             90..1451
                     /gene="SMPDL3A"
                     /gene_synonym="ASM3A; ASML3a; yR36GH4.1"
                     /EC_number="3.6.1.15"
                     /note="isoform a precursor is encoded by transcript
                     variant 1; 0610010C24Rik; acid sphingomyelinase-like
                     phosphodiesterase 3a; ASM-like phosphodiesterase 3a;
                     2',3'-cGAMP phosphodiesterase SMPDL3A; cyclic GMP-AMP
                     phosphodiesterase SMPDL3A"
                     /codon_start=1
                     /product="cyclic GMP-AMP phosphodiesterase SMPDL3A isoform
                     a precursor"
                     /protein_id="NP_006705.1"
                     /db_xref="CCDS:CCDS5128.1"
                     /db_xref="GeneID:10924"
                     /db_xref="HGNC:HGNC:17389"
                     /db_xref="MIM:610728"
                     /translation="MALVRALVCCLLTAWHCRSGLGLPVAPAGGRNPPPAIGQFWHVT
                     DLHLDPTYHITDDHTKVCASSKGANASNPGPFGDVLCDSPYQLILSAFDFIKNSGQEA
                     SFMIWTGDSPPHVPVPELSTDTVINVITNMTTTIQSLFPNLQVFPALGNHDYWPQDQL
                     PVVTSKVYNAVANLWKPWLDEEAISTLRKGGFYSQKVTTNPNLRIISLNTNLYYGPNI
                     MTLNKTDPANQFEWLESTLNNSQQNKEKVYIIAHVPVGYLPSSQNITAMREYYNEKLI
                     DIFQKYSDVIAGQFYGHTHRDSIMVLSDKKGSPVNSLFVAPAVTPVKSVLEKQTNNPG
                     IRLFQYDPRDYKLLDMLQYYLNLTEANLKGESIWKLEYILTQTYDIEDLQPESLYGLA
                     KQFTILDSKQFIKYYNYFFVSYDSSVTCDKTCKAFQICAIMNLDNISYADCLKQLYIK
                     HNY"
     exon            202..415
                     /gene="SMPDL3A"
                     /gene_synonym="ASM3A; ASML3a; yR36GH4.1"
                     /inference="alignment:Splign:2.1.0"
     exon            416..560
                     /gene="SMPDL3A"
                     /gene_synonym="ASM3A; ASML3a; yR36GH4.1"
                     /inference="alignment:Splign:2.1.0"
     exon            561..657
                     /gene="SMPDL3A"
                     /gene_synonym="ASM3A; ASML3a; yR36GH4.1"
                     /inference="alignment:Splign:2.1.0"
     exon            658..827
                     /gene="SMPDL3A"
                     /gene_synonym="ASM3A; ASML3a; yR36GH4.1"
                     /inference="alignment:Splign:2.1.0"
     exon            828..1008
                     /gene="SMPDL3A"
                     /gene_synonym="ASM3A; ASML3a; yR36GH4.1"
                     /inference="alignment:Splign:2.1.0"
     exon            1009..1133
                     /gene="SMPDL3A"
                     /gene_synonym="ASM3A; ASML3a; yR36GH4.1"
                     /inference="alignment:Splign:2.1.0"
     exon            1134..1763
                     /gene="SMPDL3A"
                     /gene_synonym="ASM3A; ASML3a; yR36GH4.1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1738..1743
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SMPDL3A"
                     /gene_synonym="ASM3A; ASML3a; yR36GH4.1"
                     /note="hexamer: AATAAA"
     polyA_site      1763
                     /gene="SMPDL3A"
                     /gene_synonym="ASM3A; ASML3a; yR36GH4.1"
                     /note="major polyA site"
ORIGIN      
        1 gtcttctgtc tccgcctcac cctcaggcct gacggtccga gtggagctgc gggacagccc
       61 gaacctccag gtcagccccg cggccctcca tggcgctggt gcgcgcactc gtctgctgcc
      121 tgctgactgc ctggcactgc cgctccggcc tcgggctgcc cgtggcgccc gcaggcggca
      181 ggaatcctcc tccggcgata ggacagtttt ggcatgtgac tgacttacac ttagacccta
      241 cttaccacat cacagatgac cacacaaaag tgtgtgcttc atctaaaggt gcaaatgcct
      301 ccaaccctgg cccttttgga gatgttctgt gtgattctcc atatcaactt attttgtcag
      361 catttgattt tattaaaaat tctggacaag aagcatcttt catgatatgg acaggggata
      421 gcccacctca tgttcctgta cctgaactct caacagacac tgttataaat gtgatcacta
      481 atatgacaac caccatccag agtctctttc caaatctcca ggttttccct gcgctgggta
      541 atcatgacta ttggccacag gatcaactgc ctgtagtcac cagtaaagtg tacaatgcag
      601 tagcaaacct ctggaaacca tggctagatg aagaagctat tagtacttta aggaaaggtg
      661 gtttttattc acagaaagtt acaactaatc caaaccttag gatcatcagt ctaaacacaa
      721 acttgtacta cggcccaaat ataatgacac tgaacaagac tgacccagcc aaccagtttg
      781 aatggctaga aagtacattg aacaactctc agcagaataa ggagaaggtg tatatcatag
      841 cacatgttcc agtggggtat ctgccatctt cacagaacat cacagcaatg agagaatact
      901 ataatgagaa attgatagat atttttcaaa aatacagtga tgtcattgca ggacaatttt
      961 atggacacac tcacagagac agcattatgg ttctttcaga taaaaaagga agtccagtaa
     1021 attctttgtt tgtggctcct gctgttacac cagtgaagag tgttttagaa aaacagacca
     1081 acaatcctgg tatcagactg tttcagtatg atcctcgtga ttataaatta ttggatatgt
     1141 tgcagtatta cttgaatctg acagaggcga atctaaaggg agagtccatc tggaagctgg
     1201 agtatatcct gacccagacc tacgacattg aagatttgca gccggaaagt ttatatggat
     1261 tagctaaaca atttacaatc ctagacagta agcagtttat aaaatactac aattacttct
     1321 ttgtgagtta tgacagcagt gtaacatgtg ataagacatg taaggccttt cagatttgtg
     1381 caattatgaa tcttgataat atttcctatg cagattgcct caaacagctt tatataaagc
     1441 acaattacta gtatttcaca gtttttgcta atagaaaatg ctgattctga ttctgagatc
     1501 aatttgtggg aattttacat aaatctttgt taattactga gtgggcaagt agacttcctg
     1561 tctttgcttt cttttttttt ttctttttga tgccttaatg tagatatctt tatcattctg
     1621 aattgtatta tatatttaaa gtgctcatta atagaatgat ggatgtaaat tggatgtaaa
     1681 tattcagttt atataattat atctaatttg tacccttgtt gaaattgtca tttatacaat
     1741 aaagcgaatt ctttatctct aaa
//
