LOCUS       NM_001174156            6761 bp    mRNA    linear   PRI 26-FEB-2025
DEFINITION  Homo sapiens sterile alpha motif domain containing 8 (SAMD8),
            transcript variant 1, mRNA.
ACCESSION   NM_001174156
VERSION     NM_001174156.2
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 6761)
  AUTHORS   Chiang,Y.P., Li,Z., He,M., Jones,Q., Pan,M., Han,X. and Jiang,X.C.
  TITLE     Sphingomyelin synthase-related protein SMSr is a
            phosphatidylethanolamine phospholipase C that promotes nonalcoholic
            fatty liver disease
  JOURNAL   J Biol Chem 299 (9), 105162 (2023)
   PUBMED   37586586
  REMARK    GeneRIF: Sphingomyelin synthase-related protein SMSr is a
            phosphatidylethanolamine phospholipase C that promotes nonalcoholic
            fatty liver disease.
            Erratum:[J Biol Chem. 2024 Apr;300(4):107204. doi:
            10.1016/j.jbc.2024.107204. PMID: 38552502]
REFERENCE   2  (bases 1 to 6761)
  AUTHORS   Furuta,M., Murakami,C., Numagami,Y., Suzuki,R. and Sakane,F.
  TITLE     Diacylglycerol kinase zeta interacts with sphingomyelin synthase 1
            and sphingomyelin synthase-related protein via different regions
  JOURNAL   FEBS Open Bio 13 (7), 1333-1345 (2023)
   PUBMED   37166445
  REMARK    GeneRIF: Diacylglycerol kinase zeta interacts with sphingomyelin
            synthase 1 and sphingomyelin synthase-related protein via different
            regions.
REFERENCE   3  (bases 1 to 6761)
  AUTHORS   Murakami,C. and Sakane,F.
  TITLE     Sphingomyelin synthase-related protein generates diacylglycerol via
            the hydrolysis of glycerophospholipids in the absence of ceramide
  JOURNAL   J Biol Chem 296, 100454 (2021)
   PUBMED   33621517
  REMARK    GeneRIF: Sphingomyelin synthase-related protein generates
            diacylglycerol via the hydrolysis of glycerophospholipids in the
            absence of ceramide.
REFERENCE   4  (bases 1 to 6761)
  AUTHORS   Cabukusta,B., Nettebrock,N.T., Kol,M., Hilderink,A., Tafesse,F.G.
            and Holthuis,J.C.M.
  TITLE     Ceramide phosphoethanolamine synthase SMSr is a target of caspase-6
            during apoptotic cell death
  JOURNAL   Biosci Rep 37 (4) (2017)
   PUBMED   28659495
  REMARK    GeneRIF: findings underscore a role of SMSr as negative regulator
            of ceramide-induced cell death
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 6761)
  AUTHORS   Tafesse,F.G., Vacaru,A.M., Bosma,E.F., Hermansson,M., Jain,A.,
            Hilderink,A., Somerharju,P. and Holthuis,J.C.
  TITLE     Sphingomyelin synthase-related protein SMSr is a suppressor of
            ceramide-induced mitochondrial apoptosis
  JOURNAL   J Cell Sci 127 (Pt 2), 445-454 (2014)
   PUBMED   24259670
  REMARK    GeneRIF: These results indicate a primary role of SMSr in
            monitoring endoplasmic reticulum ceramide levels.
REFERENCE   6  (bases 1 to 6761)
  AUTHORS   Vacaru,A.M., Tafesse,F.G., Ternes,P., Kondylis,V., Hermansson,M.,
            Brouwers,J.F., Somerharju,P., Rabouille,C. and Holthuis,J.C.
  TITLE     Sphingomyelin synthase-related protein SMSr controls ceramide
            homeostasis in the ER
  JOURNAL   J Cell Biol 185 (6), 1013-1027 (2009)
   PUBMED   19506037
REFERENCE   7  (bases 1 to 6761)
  AUTHORS   Grupe,A., Li,Y., Rowland,C., Nowotny,P., Hinrichs,A.L., Smemo,S.,
            Kauwe,J.S., Maxwell,T.J., Cherny,S., Doil,L., Tacey,K., van
            Luchene,R., Myers,A., Wavrant-De Vrieze,F., Kaleem,M.,
            Hollingworth,P., Jehu,L., Foy,C., Archer,N., Hamilton,G.,
            Holmans,P., Morris,C.M., Catanese,J., Sninsky,J., White,T.J.,
            Powell,J., Hardy,J., O'Donovan,M., Lovestone,S., Jones,L.,
            Morris,J.C., Thal,L., Owen,M., Williams,J. and Goate,A.
  TITLE     A scan of chromosome 10 identifies a novel locus showing strong
            association with late-onset Alzheimer disease
  JOURNAL   Am J Hum Genet 78 (1), 78-88 (2006)
   PUBMED   16385451
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   8  (bases 1 to 6761)
  AUTHORS   Barrios-Rodiles,M., Brown,K.R., Ozdamar,B., Bose,R., Liu,Z.,
            Donovan,R.S., Shinjo,F., Liu,Y., Dembowy,J., Taylor,I.W., Luga,V.,
            Przulj,N., Robinson,M., Suzuki,H., Hayashizaki,Y., Jurisica,I. and
            Wrana,J.L.
  TITLE     High-throughput mapping of a dynamic signaling network in mammalian
            cells
  JOURNAL   Science 307 (5715), 1621-1625 (2005)
   PUBMED   15761153
REFERENCE   9  (bases 1 to 6761)
  AUTHORS   Huitema,K., van den Dikkenberg,J., Brouwers,J.F. and Holthuis,J.C.
  TITLE     Identification of a family of animal sphingomyelin synthases
  JOURNAL   EMBO J 23 (1), 33-44 (2004)
   PUBMED   14685263
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC080593.1 and AL392111.12.
            
            On Nov 22, 2018 this sequence version replaced NM_001174156.1.
            
            Transcript Variant: This variant (1) encodes the longer isoform
            (1).
            
            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.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803612.177617.1,
                                           SRR1803611.199906.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968189
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000542569.6/ ENSP00000438042.1
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1473              BC080593.1         22-1494
            1474-6761           AL392111.12        107721-113008
FEATURES             Location/Qualifiers
     source          1..6761
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q22.2"
     gene            1..6761
                     /gene="SAMD8"
                     /gene_synonym="HEL-177; SMSr"
                     /note="sterile alpha motif domain containing 8"
                     /db_xref="GeneID:142891"
                     /db_xref="HGNC:HGNC:26320"
                     /db_xref="MIM:611575"
     exon            1..67
                     /gene="SAMD8"
                     /gene_synonym="HEL-177; SMSr"
                     /inference="alignment:Splign:2.1.0"
     exon            68..660
                     /gene="SAMD8"
                     /gene_synonym="HEL-177; SMSr"
                     /inference="alignment:Splign:2.1.0"
     CDS             83..1330
                     /gene="SAMD8"
                     /gene_synonym="HEL-177; SMSr"
                     /EC_number="2.7.8.48"
                     /note="isoform 1 is encoded by transcript variant 1;
                     sphingomyelin synthase related; sphingomyelin
                     synthase-related protein 1; SAM domain-containing protein
                     8; CPE synthase; epididymis luminal protein 177; sterile
                     alpha motif domain-containing protein 8; ceramide
                     phosphoethanolamine synthase; HEL-S-181mP; epididymis
                     secretory sperm binding protein Li 181mP"
                     /codon_start=1
                     /product="sphingomyelin synthase-related protein 1 isoform
                     1"
                     /protein_id="NP_001167627.1"
                     /db_xref="CCDS:CCDS53543.1"
                     /db_xref="GeneID:142891"
                     /db_xref="HGNC:HGNC:26320"
                     /db_xref="MIM:611575"
                     /translation="MAGPNQLCIRRWTTKHVAVWLKDEGFFEYVDILCNKHRLDGITL
                     LTLTEYDLRSPPLEIKVLGDIKRLMLSVRKLQKIHIDVLEEMGYNSDSPMGSMTPFIS
                     ALQSTDWLCNGELSHDCDGPITDLNSDQYQYMNGKNKHSVRRLDPEYWKTILSCIYVF
                     IVFGFTSFIMVIVHERVPDMQTYPPLPDIFLDSVPRIPWAFAMTEVCGMILCYIWLLV
                     LLLHKHRSILLRRLCSLMGTVFLLRCFTMFVTSLSVPGQHLQCTGKIYGSVWEKLHRA
                     FAIWSGFGMTLTGVHTCGDYMFSGHTVVLTMLNFFVTEYTPRSWNFLHTLSWVLNLFG
                     IFFILAAHEHYSIDVFIAFYITTRLFLYYHTLANTRAYQQSRRARIWFPMFSFFECNV
                     NGTVPNEYCWPFSKPAIMKRLIG"
     exon            661..756
                     /gene="SAMD8"
                     /gene_synonym="HEL-177; SMSr"
                     /inference="alignment:Splign:2.1.0"
     exon            757..874
                     /gene="SAMD8"
                     /gene_synonym="HEL-177; SMSr"
                     /inference="alignment:Splign:2.1.0"
     exon            875..1025
                     /gene="SAMD8"
                     /gene_synonym="HEL-177; SMSr"
                     /inference="alignment:Splign:2.1.0"
     exon            1026..6761
                     /gene="SAMD8"
                     /gene_synonym="HEL-177; SMSr"
                     /inference="alignment:Splign:2.1.0"
     regulatory      6740..6745
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SAMD8"
                     /gene_synonym="HEL-177; SMSr"
                     /note="hexamer: AATAAA"
     polyA_site      6761
                     /gene="SAMD8"
                     /gene_synonym="HEL-177; SMSr"
                     /note="major polyA site"
ORIGIN      
        1 ggactccgac ggcggctcgg acgccgactc ggaggtgggt ccggggagcc cgactcggac
       61 cgcggaggca gcggaggagg aaatggcagg tcctaatcaa ctctgcattc gccgctggac
      121 taccaagcat gtagctgtgt ggctgaagga tgaaggcttt tttgaatatg tggacatttt
      181 atgcaataag caccgacttg atggaatcac attgctaaca ttgactgaat atgatctccg
      241 gtctcctcct ctggaaatca aagtcttagg ggacattaaa aggttaatgc tctcagtccg
      301 aaaattgcag aaaatacata ttgatgtttt agaagagatg ggctacaaca gtgacagtcc
      361 catgggttcc atgacccctt tcatcagtgc tcttcagagt acagactggc tctgtaatgg
      421 ggagctttcc catgactgtg acggacccat aactgacttg aattctgatc agtaccagta
      481 catgaatggt aaaaacaaac attctgttcg aagattggac ccagaatact ggaagactat
      541 actgagttgt atatatgttt ttatagtatt tggatttaca tctttcatta tggttatagt
      601 ccatgagcga gtgcctgaca tgcagaccta tccaccactc ccagatatat tcttagacag
      661 cgttcctaga atcccatggg cctttgccat gacggaagta tgtggcatga ttctgtgcta
      721 tatttggctc ctggttcttc ttcttcacaa gcacaggtca atacttctgc gaaggctctg
      781 tagtctgatg ggaactgtat tcttgcttcg ctgctttacc atgtttgtga cctccctctc
      841 cgtgccagga caacacctgc agtgtactgg aaagatatat ggcagtgtat gggagaaatt
      901 acatcgagcc tttgccattt ggagtggctt tggtatgacc ctgactggcg ttcacacatg
      961 tggagattac atgtttagtg gccacacagt cgtcctaact atgctgaatt tctttgtcac
     1021 cgaatataca ccaagaagct ggaatttctt gcacacttta tcctgggttc tcaacctctt
     1081 tggaatcttc ttcatcttgg ctgcccatga acattattct attgatgtgt ttattgcttt
     1141 ttatataaca acaagactct ttttgtacta ccatactctg gccaatacca gagcatatca
     1201 gcagagtagg agagcaagga tttggtttcc catgttctct ttttttgaat gcaatgttaa
     1261 tggcacagta cctaatgaat attgttggcc attttcaaaa ccagcaataa tgaaaagact
     1321 aattggatga atactatctt tctaatgaat ttgtgattaa atatataata gttgttgaaa
     1381 atgagtaact ttgcgttctc cccctaggtt gttcttagat gcctggctta tgtgttgaca
     1441 aagtaaagtt ttctgttctg agcaaagtta tgattataaa aagcaagaaa gaacaatcaa
     1501 gagtccttat gtagctattt gaacagaaag cttaagtaga tgttttctgc cccttctctt
     1561 taggaagact taatgttgtg attgaagtca ggctgtaccc ttacctgttg agtatttgct
     1621 tattgaactt taaacaagtc aacttgagca gtttgctggt tgaggaattt tcattgattt
     1681 ccagtagggc tctagtcaag aaataatatg ttttgaagct ccttattacc tttagaagaa
     1741 gaaaccctaa caagtgacag tacttgttct ttggactaat ctttgtttca ttttaaaaaa
     1801 tgcaaccctg ggacatgatc tgttttactg acaaagagtt tttgccttct gaaccatctt
     1861 taaatatact gagcatacca ggatgcctga aataagaaga gaatgaaaga ggccatagat
     1921 gacgtgacag agtactggct aggatgccat tggtctcctc attaatgcaa atgtagggct
     1981 ggcatatttc accaaagatg caacaaaaga tgcagtgcca gtgtgaccct cagtgagtat
     2041 tcatgaggga aaaatggctg catccataaa aataaatggg cttaatgtta gtggtatagg
     2101 tacccagaat aacttctttg tgctatagtt gttagatgac agttcaattt tatgcttttt
     2161 taatggtgtt attaaatgag ccaaatagga gtgttttacc agatgttaga taaagttctt
     2221 aatgccgtta agtagggagg tatgcatgca aagaattgtt ttctcctgaa aagaaactta
     2281 cagcacgcaa aatataactt tttggttttt gaaatttatc attcttggct gttggaagta
     2341 aacagtctca gacatacttg gatatgaaaa agtttcgttg ttttttactt ttaaatataa
     2401 tggtgtatat acattctttc tatttagtct taatttggca gtcaggaagt gatataactt
     2461 agctgctatt tacaacacta gaaatttagt actttaagta atttcacatc tatgataaca
     2521 tttgttactt tatttttaat gattttttta cagtagttat gacagtagga tggttatgga
     2581 attggaattt aaactcccaa ctaatgagct taagctgctt ggaatattaa ttatgtagtt
     2641 tttacattcc attttaaaac aaaaacttag aaaaggtgct ggcattctga ggcctgcaat
     2701 taggccacat agcagaagct tgctccttcc ttatctgggt gaaatatttt atttttgcac
     2761 tttgagtcat attcccaccc ctgtataagc tacataggag cctgaatgaa ttgggtagga
     2821 aaggaaatta tgcaaacaag tctcagctag tgctgaatga ccccaatttg ggtctgctgt
     2881 gaacatcatt tttgtatttc tcacttgaga aatgctgcaa ggcaattcaa cttttatgct
     2941 tttaaatctc acaactcaga atctgatatc ttaaatcact gattctgtta catgctagga
     3001 acaaaatgcc aacatctcat gtaaagaagt tgcataatca tgaaaaataa aggatgtttc
     3061 ctatgccagt tagagtggtt tgacccttca ggtaaaaaga tatgttactg ttatttttct
     3121 acgtgacaga acagactgaa tttagctagg gaggcagtga tgttggcttt tgggaaaggg
     3181 ttcaaaaaac tgtatggcaa cattaatgct aaaatgttaa gccgagtgca gtggtgcaag
     3241 gctatagtcc caggttctga ggaggctgag gcaggaggat tgcttgaggc caggagttag
     3301 aaactagagt gtgttataac gcctatgaat aaccactgca ttccagcccg ggcaaggtag
     3361 caagacccat tctcttaaaa acatggctgg gtgcaatggc tcacgcctgt aatcccagca
     3421 ctttgggagg ccaaggcagg cggatggctt gaggtcagga gttcgagatt agcctggcca
     3481 atatggtgaa acctcatctc tactaaaact acaaaaatta gctgggcatg gtggcacgca
     3541 cttgtaatcc cagctacttg ggagactgag gaacaagaaa cacttgaacc caggaggtgg
     3601 agtttgcatt gagctgagat cactccactg cactccagcc taggtgacag agtgagactc
     3661 catctcaaaa cgaaacaaaa caaaacaaaa caaattagag tgggtgcagt gtctaatgcc
     3721 tgtaatcgca gcactttggg aggctaaggc aggaggatca cttgagctca ggtaaaagag
     3781 accagcctgg gcaacaaagt gagacctcat ccccacaaaa agttgtttag aaaattagct
     3841 gggcgtggtg atgcatgcct gtggtcccag ctacatggga ggctgaggca gaaggatcac
     3901 ttgagcccaa ggaggttgag gctacagtga gctgtaatca tgccactgca ctccagcctt
     3961 ggggacagag tgagaccctg cctcaatcaa tcaatcaatc aataacaaaa acttaaatag
     4021 ctattaacct cagtcttctt tccttcatat aaattctatt ctaagaccaa atagaaaaat
     4081 aaatgtaact aactttgcag agctattgac attgagagac ctaacaacag actgcaatgg
     4141 ggattgtaaa ataacttttc agccttgcac ttgctcatat atgttttgag aaaaatgtaa
     4201 gttaggtata acttattgtt ttaactatta taaggcagtg tttacataaa ttaatcatct
     4261 ctttcttgga aaacattgag acaaatttat tttcagtttt acttaaacat gaaacctgta
     4321 ttttagttgc tttttgtttt gtccagaaat ttccagattt tgtcttcatt ttttttcctg
     4381 gttaaaatct aaaccatagt gaagatagta tttatgttta cattttatct gtgaatgtgg
     4441 ctaagcagag aagctacatg gctttggtct acatattttt tgaccttgta tttggttctg
     4501 tagttgcaga cttgtgaagg cttacatcat catggagact ttagtaagga aggaaccaaa
     4561 aggtttttgg tttggggatg caaactggag gttatgttac aagtcttcaa tgcattttct
     4621 gtgttcctgg cagcagtgtt gccttttttt ttcttttcct tttttttttt taaagaccag
     4681 gtagggtagt gttattgaag ggtaattgaa gagtggtaga gagtaagagg ttttgaagga
     4741 ggcaggtttg ctgttatcac aaaataattt gggggaaacc tttcgtggct gtgctgcaag
     4801 aattctttat gtggctatcc tctccatagt tttctgacca gaattgcaag ggcaaaaata
     4861 gaacttctag ctctatttat ttgtatcctt tgaaatcaga acttatcctt agaaccagtc
     4921 agttaaataa tgcggactat gcctataatc ccagcacttt aggaggctga ggcaggcaga
     4981 tcacgaggtc aggagttcga ggccagcctg gccaatgtgg tgaaactccg tctctactaa
     5041 aaatacaaaa attagccggg cgtggtggtg cacgcccatg cctgtagtcc cagctactcg
     5101 ggaggctgag gcagaagaat cgcttgaacc caggaggcgg aggttgcagt gagccgagat
     5161 actgccacta cacttcagtc tgggtgacag agcgagactc catctcaaaa aaacaaaaca
     5221 aaataaaata ataatgtggg ctattcagaa gaaaaagtca gtgacagaga gaccagaacc
     5281 cattggatca agagacctgc agggattata actctttact ctgtgagcag cggtgtttcg
     5341 tgccctgtct ctgcctgtgt gtttttacta agaattccag aaatcctgta atttgtaaat
     5401 gggaaacaga ggaaccagat tgttttatag ctgataagaa acagtctgtt ttagaaacat
     5461 ctgtttggaa agtattactc atgtattcac aaagtcatat ttataacact agtcttcttt
     5521 gactgtattc aacaaaaggc agtttcacca ttaatttcat agtaagcttt tttaaaggat
     5581 tctagatcta aattgcctaa gaatgttaac cacattcttg ttttaaactc tctaatttaa
     5641 taaatgtaat tattttatag tcttttatag acttacattt tcttcatact aaaggtaatg
     5701 ataatatagt catttgccag tactttaagg tattcaggca tttgagacaa gaaagctgtc
     5761 ttgtagaata gtccaattgc tttcttaaac agtactggtt tcatttagac agtttctaag
     5821 ccagcaaagg tgtcaatttt aatgccaact tgacagttta acagttagtg tttgtaagca
     5881 gtttagcctg aattatccca tactgctgta gaggagaatt gttagtaaca tcaaaggtca
     5941 gaatgcttca ggtgactaat aagaatggaa agagactgag taggtttttt gtttcttttc
     6001 cctgtctttg agtaactttg aatgactaaa attagtatga aactaggttt tggaccccct
     6061 tctcacctca cccggatgta atgccaccaa tttcaaataa ctaaaatgtg accaattact
     6121 ttgcttcaag ttctatacaa atatctctga aatctgtaag ccatatttca gctattctgg
     6181 tttttataat acattctacc ctaaattaac caaaggactt tttattcagt gtattccatg
     6241 tttcagcata aggaaagttt gtgcctgata tggcaggaga aagaacacta tggtaatttc
     6301 attgttactt caggtctctt tcaatctgaa gaactgggtt gtctggagaa ttgaacatag
     6361 ccaagcaata ttatcaatta gtaatgtcat cttaaaaatg ttcactttta ctaagtttta
     6421 ttcagaggat ctatgtatta ttagaaaaat gaagtatttc tgacatggaa caaagaaagt
     6481 ggaaactggt acttaatggg ggaagcaaaa ttagctggga ctaaaacgga catgttttgt
     6541 tttgtgaatt ctacctaaat gtctctctat ccacagagaa actagtatta cttgaagatg
     6601 tgaaagttcc tgtggtagcc ataccttgaa gcacagtgtt tgtacataag taaatatctt
     6661 gattctaaat taaatccaga tttaactaat atatattatt ttatatcttt gttgtattaa
     6721 aatgtttaaa aacactaaaa ataaaacatt tgaaagttgg a
//
