LOCUS       NM_003580               3574 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens neutral sphingomyelinase activation associated factor
            (NSMAF), transcript variant 1, mRNA.
ACCESSION   NM_003580
VERSION     NM_003580.4
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 3574)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   2  (bases 1 to 3574)
  AUTHORS   Forsberg,J., Li,X., Zamaraev,A.V., Panaretakis,T., Zhivotovsky,B.
            and Olsson,M.
  TITLE     Caspase-2 associates with FAN through direct interaction and
            overlapping functionality
  JOURNAL   Biochem Biophys Res Commun 499 (4), 822-828 (2018)
   PUBMED   29621545
  REMARK    GeneRIF: these data identify a novel caspase-2-interacting factor,
            FAN, and expand the role for the enzyme in seemingly non-apoptotic
            cellular mechanisms.
REFERENCE   3  (bases 1 to 3574)
  AUTHORS   Qrafli,M., Asekkaj,I., Bourkadi,J.E., El Aouad,R. and Sadki,K.
  TITLE     New variant identified in major susceptibility locus to
            tuberculosis on chromosomal region 8q12-q13 in Moroccan population:
            a case control study
  JOURNAL   BMC Infect Dis 17 (1), 712 (2017)
   PUBMED   29115933
  REMARK    GeneRIF: The rs1050504 C > T genotype was observed to be
            significantly associated with an increased risk for developing
            pulmonary tuberculosis.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3574)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Paulo,J.A., Cannon,J.R., Ting,L.,
            Baltier,K., Colby,G., Gebreab,F., Gygi,M.P., Parzen,H., Szpyt,J.,
            Tam,S., Zarraga,G., Pontano-Vaites,L., Swarup,S., White,A.E.,
            Schweppe,D.K., Rad,R., Erickson,B.K., Obar,R.A., Guruharsha,K.G.,
            Li,K., Artavanis-Tsakonas,S., Gygi,S.P. and Harper,J.W.
  TITLE     Architecture of the human interactome defines protein communities
            and disease networks
  JOURNAL   Nature 545 (7655), 505-509 (2017)
   PUBMED   28514442
REFERENCE   5  (bases 1 to 3574)
  AUTHORS   Steffens,A., Brautigam,A., Jakoby,M. and Hulskamp,M.
  TITLE     The BEACH Domain Protein SPIRRIG Is Essential for Arabidopsis Salt
            Stress Tolerance and Functions as a Regulator of Transcript
            Stabilization and Localization
  JOURNAL   PLoS Biol 13 (7), e1002188 (2015)
   PUBMED   26133670
  REMARK    Publication Status: Online-Only
REFERENCE   6  (bases 1 to 3574)
  AUTHORS   Tcherkasowa,A.E., Adam-Klages,S., Kruse,M.L., Wiegmann,K.,
            Mathieu,S., Kolanus,W., Kronke,M. and Adam,D.
  TITLE     Interaction with factor associated with neutral sphingomyelinase
            activation, a WD motif-containing protein, identifies receptor for
            activated C-kinase 1 as a novel component of the signaling pathways
            of the p55 TNF receptor
  JOURNAL   J Immunol 169 (9), 5161-5170 (2002)
   PUBMED   12391233
  REMARK    GeneRIF: The interaction of FAN with receptor for activated
            C-kinase 1 (RACK1) appears to be dependent on the folding of the WD
            repeats into a secondary structure, because no linear binding
            motifs are identified in the WD-repeat region of FAN.
REFERENCE   7  (bases 1 to 3574)
  AUTHORS   Segui,B., Andrieu-Abadie,N., Adam-Klages,S., Meilhac,O., Kreder,D.,
            Garcia,V., Bruno,A.P., Jaffrezou,J.P., Salvayre,R., Kronke,M. and
            Levade,T.
  TITLE     CD40 signals apoptosis through FAN-regulated activation of the
            sphingomyelin-ceramide pathway
  JOURNAL   J Biol Chem 274 (52), 37251-37258 (1999)
   PUBMED   10601289
REFERENCE   8  (bases 1 to 3574)
  AUTHORS   Zhang,Y., Kreder,D., Schwandner,R., Krut,O., Scherer,G.,
            Adam-Klages,S., Siebert,R., Kronke,M. and Schlegelberger,B.
  TITLE     Assignment of the human FAN protein gene (NSMAF) to human
            chromosome region 8q12-->q13 by in situ hybridization
  JOURNAL   Cytogenet Cell Genet 87 (1-2), 115-116 (1999)
   PUBMED   10640829
REFERENCE   9  (bases 1 to 3574)
  AUTHORS   Adam-Klages,S., Schwandner,R., Adam,D., Kreder,D., Bernardo,K. and
            Kronke,M.
  TITLE     Distinct adapter proteins mediate acid versus neutral
            sphingomyelinase activation through the p55 receptor for tumor
            necrosis factor
  JOURNAL   J Leukoc Biol 63 (6), 678-682 (1998)
   PUBMED   9620659
  REMARK    Review article
REFERENCE   10 (bases 1 to 3574)
  AUTHORS   Adam-Klages,S., Adam,D., Wiegmann,K., Struve,S., Kolanus,W.,
            Schneider-Mergener,J. and Kronke,M.
  TITLE     FAN, a novel WD-repeat protein, couples the p55 TNF-receptor to
            neutral sphingomyelinase
  JOURNAL   Cell 86 (6), 937-947 (1996)
   PUBMED   8808629
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC092700.2, DR005814.1,
            BC041124.1 and AC068522.7.
            
            On Nov 23, 2018 this sequence version replaced NM_003580.3.
            
            Summary: This gene encodes a WD-repeat protein that binds the
            cytoplasmic sphingomyelinase activation domain of the 55kD tumor
            necrosis factor receptor. This protein is required for TNF-mediated
            activation of neutral sphingomyelinase and may play a role in
            regulating TNF-induced cellular responses such as inflammation.
            Alternative splicing results in multiple transcript
            variants.[provided by RefSeq, Jan 2009].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the shorter isoform (1).
            
            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 :: X96586.1, BC041124.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000038176.8/ ENSP00000038176.3
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-8                 AC092700.2         79822-79829         c
            9-26                DR005814.1         7-24
            27-1649             BC041124.1         1-1623
            1650-1650           AC068522.7         121455-121455       c
            1651-3574           BC041124.1         1625-3548
FEATURES             Location/Qualifiers
     source          1..3574
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8q12.1"
     gene            1..3574
                     /gene="NSMAF"
                     /gene_synonym="FAN; GRAMD5"
                     /note="neutral sphingomyelinase activation associated
                     factor"
                     /db_xref="GeneID:8439"
                     /db_xref="HGNC:HGNC:8017"
                     /db_xref="MIM:603043"
     exon            1..281
                     /gene="NSMAF"
                     /gene_synonym="FAN; GRAMD5"
                     /inference="alignment:Splign:2.1.0"
     CDS             223..2976
                     /gene="NSMAF"
                     /gene_synonym="FAN; GRAMD5"
                     /note="isoform 1 is encoded by transcript variant 1;
                     protein FAN; factor associated with N-SMase activation;
                     factor associated with neutral sphingomyelinase
                     activation; neutral sphingomyelinase (N-SMase) activation
                     associated factor"
                     /codon_start=1
                     /product="protein FAN isoform 1"
                     /protein_id="NP_003571.2"
                     /db_xref="CCDS:CCDS6173.1"
                     /db_xref="GeneID:8439"
                     /db_xref="HGNC:HGNC:8017"
                     /db_xref="MIM:603043"
                     /translation="MAFIRKKQQEQQLQLYSKERFSLLLLNLEEYYFEQHRANHILHK
                     GSHHERKIRGSLKICSKSVIFEPDSISQPIIKIPLRDCIKIGKHGENGANRHFTKAKS
                     GGISLIFSQVYFIKEHNVVAPYKIERGKMEYVFELDVPGKVEDVVETLLQLHRASCLD
                     KLGDQTAMITAILQSRLARTSFDKNRFQNISEKLHMECKAEMVTPLVTNPGHVCITDT
                     NLYFQPLNGYPKPVVQITLQDVRRIYKRRHGLMPLGLEVFCTEDDLCSDIYLKFYEPQ
                     DRDDLYFYIATYLEHHVAEHTAESYMLQWQRGHLSNYQYLLHLNNLADRSCNDLSQYP
                     VFPWIIHDYSSSELDLSNPGTFRDLSKPVGALNKERLERLLTRYQEMPEPKFMYGSHY
                     SSPGYVLFYLVRIAPEYMLCLQNGRFDNADRMFNSIAETWKNCLDGATDFKELIPEFY
                     GDDVSFLVNSLKLDLGKRQGGQMVDDVELPPWASSPEDFLQKSKDALESNYVSEHLHE
                     WIDLIFGYKQKGSDAVGAHNVFHPLTYEGGVDLNSIQDPDEKVAMLTQILEFGQTPKQ
                     LFVTPHPRRITPKFKSLSQTSSYNASMADSPGEESFEDLTEESKTLAWNNITKLQLHE
                     HYKIHKEAVTGITVSRNGSSVFTTSQDSTLKMFSKESKMLQRSISFSNMALSSCLLLP
                     GDATVITSSWDNNVYFYSIAFGRRQDTLMGHDDAVSKICWHDNRLYSASWDSTVKVWS
                     GVPAEMPGTKRHHFDLLAELEHDVSVDTISLNAASTLLVSGTKEGTVNIWDLTTATLM
                     HQIPCHSGIVCDTAFSPDSRHVLSTGTDGCLNVIDVQTGMLISSMTSDEPQRCFVWDG
                     NSVLSGSQSGELLVWDLLGAKISERIQGHTGAVTCIWMNEQCSSIITGGEDRQIIFWK
                     LQY"
     exon            282..371
                     /gene="NSMAF"
                     /gene_synonym="FAN; GRAMD5"
                     /inference="alignment:Splign:2.1.0"
     exon            372..450
                     /gene="NSMAF"
                     /gene_synonym="FAN; GRAMD5"
                     /inference="alignment:Splign:2.1.0"
     exon            451..518
                     /gene="NSMAF"
                     /gene_synonym="FAN; GRAMD5"
                     /inference="alignment:Splign:2.1.0"
     exon            519..555
                     /gene="NSMAF"
                     /gene_synonym="FAN; GRAMD5"
                     /inference="alignment:Splign:2.1.0"
     exon            556..606
                     /gene="NSMAF"
                     /gene_synonym="FAN; GRAMD5"
                     /inference="alignment:Splign:2.1.0"
     exon            607..678
                     /gene="NSMAF"
                     /gene_synonym="FAN; GRAMD5"
                     /inference="alignment:Splign:2.1.0"
     exon            679..726
                     /gene="NSMAF"
                     /gene_synonym="FAN; GRAMD5"
                     /inference="alignment:Splign:2.1.0"
     exon            727..779
                     /gene="NSMAF"
                     /gene_synonym="FAN; GRAMD5"
                     /inference="alignment:Splign:2.1.0"
     exon            780..909
                     /gene="NSMAF"
                     /gene_synonym="FAN; GRAMD5"
                     /inference="alignment:Splign:2.1.0"
     exon            910..981
                     /gene="NSMAF"
                     /gene_synonym="FAN; GRAMD5"
                     /inference="alignment:Splign:2.1.0"
     exon            982..1090
                     /gene="NSMAF"
                     /gene_synonym="FAN; GRAMD5"
                     /inference="alignment:Splign:2.1.0"
     exon            1091..1267
                     /gene="NSMAF"
                     /gene_synonym="FAN; GRAMD5"
                     /inference="alignment:Splign:2.1.0"
     exon            1268..1347
                     /gene="NSMAF"
                     /gene_synonym="FAN; GRAMD5"
                     /inference="alignment:Splign:2.1.0"
     exon            1348..1438
                     /gene="NSMAF"
                     /gene_synonym="FAN; GRAMD5"
                     /inference="alignment:Splign:2.1.0"
     exon            1439..1502
                     /gene="NSMAF"
                     /gene_synonym="FAN; GRAMD5"
                     /inference="alignment:Splign:2.1.0"
     exon            1503..1554
                     /gene="NSMAF"
                     /gene_synonym="FAN; GRAMD5"
                     /inference="alignment:Splign:2.1.0"
     exon            1555..1675
                     /gene="NSMAF"
                     /gene_synonym="FAN; GRAMD5"
                     /inference="alignment:Splign:2.1.0"
     exon            1676..1807
                     /gene="NSMAF"
                     /gene_synonym="FAN; GRAMD5"
                     /inference="alignment:Splign:2.1.0"
     exon            1808..1850
                     /gene="NSMAF"
                     /gene_synonym="FAN; GRAMD5"
                     /inference="alignment:Splign:2.1.0"
     exon            1851..2014
                     /gene="NSMAF"
                     /gene_synonym="FAN; GRAMD5"
                     /inference="alignment:Splign:2.1.0"
     exon            2015..2114
                     /gene="NSMAF"
                     /gene_synonym="FAN; GRAMD5"
                     /inference="alignment:Splign:2.1.0"
     exon            2115..2173
                     /gene="NSMAF"
                     /gene_synonym="FAN; GRAMD5"
                     /inference="alignment:Splign:2.1.0"
     exon            2174..2241
                     /gene="NSMAF"
                     /gene_synonym="FAN; GRAMD5"
                     /inference="alignment:Splign:2.1.0"
     exon            2242..2309
                     /gene="NSMAF"
                     /gene_synonym="FAN; GRAMD5"
                     /inference="alignment:Splign:2.1.0"
     exon            2310..2433
                     /gene="NSMAF"
                     /gene_synonym="FAN; GRAMD5"
                     /inference="alignment:Splign:2.1.0"
     exon            2434..2517
                     /gene="NSMAF"
                     /gene_synonym="FAN; GRAMD5"
                     /inference="alignment:Splign:2.1.0"
     exon            2518..2668
                     /gene="NSMAF"
                     /gene_synonym="FAN; GRAMD5"
                     /inference="alignment:Splign:2.1.0"
     exon            2669..2771
                     /gene="NSMAF"
                     /gene_synonym="FAN; GRAMD5"
                     /inference="alignment:Splign:2.1.0"
     exon            2772..2881
                     /gene="NSMAF"
                     /gene_synonym="FAN; GRAMD5"
                     /inference="alignment:Splign:2.1.0"
     exon            2882..3574
                     /gene="NSMAF"
                     /gene_synonym="FAN; GRAMD5"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3553..3558
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NSMAF"
                     /gene_synonym="FAN; GRAMD5"
                     /note="hexamer: ATTAAA"
     polyA_site      3574
                     /gene="NSMAF"
                     /gene_synonym="FAN; GRAMD5"
                     /note="major polyA site"
ORIGIN      
        1 acggtgccgc cggagtcccc acgcgaggat gctgcggtga gcgcggccgg gacgccgcgt
       61 cgggctctcg gccgcccagc ggcgccgcag gggaagccag gccggcagcc gcgcgctccc
      121 cagccggcca ccaatcccgc cctccccggc tcctccggac ctcctcggca ggcggcggcg
      181 gggcctgcct gtgcgctctg cgcccgcccg cgcctaccct ccatggcgtt tatccggaag
      241 aagcagcagg agcagcagct gcagctctac tccaaggaga gattttcctt gctgctgctt
      301 aacttggagg agtactactt tgaacagcat agagccaatc acattttgca caagggcagt
      361 caccatgaaa ggaaaatcag aggctcctta aaaatatgtt caaaatcggt gatttttgaa
      421 ccagattcaa tatcccagcc catcatcaag attcctttga gagactgtat aaaaatagga
      481 aagcatggag aaaatggagc caatagacac ttcacaaagg caaaatctgg gggtatttca
      541 ctcattttca gtcaggtata tttcattaaa gaacataatg ttgttgcacc atataaaata
      601 gaaaggggca aaatggaata tgtttttgaa ttggatgttc ccgggaaagt ggaagatgtt
      661 gtggagacgt tgcttcagct tcacagagca tcctgccttg acaaattggg tgaccaaacc
      721 gccatgataa cagctatttt gcagtctcgt ttagctagaa catcatttga caaaaacagg
      781 ttccaaaaca tttctgaaaa gctgcacatg gaatgcaaag cagaaatggt gacgcctctg
      841 gtgactaatc ctggacacgt gtgcatcacg gacacaaacc tgtattttca gcccctcaac
      901 ggctacccga aacctgtggt ccagataaca ctccaagatg tccgccgcat ctacaaaagg
      961 aggcacggcc tcatgcctct gggcttggaa gtattttgca cagaagatga tctgtgttcc
     1021 gacatctacc taaagttcta tgaacctcaa gatagagatg atctctattt ttacattgcc
     1081 acatacctag agcaccatgt ggcggagcac actgctgaga gctacatgct gcagtggcag
     1141 cgtggacacc tttccaacta tcagtacctc cttcacctca acaacctggc cgaccgcagc
     1201 tgcaacgacc tctcccagta ccctgtgttt ccatggataa tacatgatta ttccagctca
     1261 gaactagatt tgtcaaatcc aggaaccttc cgggatctca gtaagccagt aggggcccta
     1321 aataaggaac ggctggagag actactgaca cgctaccagg aaatgcctga accaaagttc
     1381 atgtatggga gtcactactc ttccccgggt tatgtacttt tttatcttgt taggattgca
     1441 ccagagtata tgctgtgcct gcagaatgga agatttgata atgcagatag aatgttcaac
     1501 agtattgcag aaacttggaa aaactgtctg gatggtgcaa cggattttaa agagttaatt
     1561 ccagaattct atggtgatga tgtgagcttt ctagtcaata gcctgaagtt ggatttggga
     1621 aagagacaag gaggacagat ggttgacgac gtggagcttc ccccttgggc ttccagtccc
     1681 gaggactttc tccagaagag caaagatgca ttggaaagca attatgtgtc tgaacacctt
     1741 cacgagtgga ttgatctaat atttggctac aaacaaaaag ggagtgatgc agttggggcc
     1801 cataatgtat ttcatcccct gacctatgaa ggaggtgtag acttgaacag catccaggat
     1861 cctgatgaga aggtagccat gcttacgcaa atcttggaat ttgggcagac accaaaacaa
     1921 ctatttgtga caccacatcc tcgaaggatc accccaaagt ttaaaagttt gtcccagacc
     1981 tccagttata atgcttctat ggcagattcc ccaggtgaag agtcttttga agacctgacc
     2041 gaagaaagca aaacactggc ctggaataac atcaccaaac tgcagttaca cgagcactat
     2101 aaaatccaca aagaagcagt tactggaatc acggtctctc gcaatggatc ttcagtattc
     2161 acaacatccc aagattccac cttgaagatg ttttctaaag aatcaaaaat gctacaaaga
     2221 agtatatcat tttcaaatat ggctttatcg tcttgtttac ttttaccagg agatgccact
     2281 gtcataactt cttcatggga taataatgtc tatttttatt ccatagcatt tggaagacgc
     2341 caggacacgt taatgggaca tgatgatgct gttagtaaga tctgttggca tgacaacagg
     2401 ctatattctg catcgtggga ctctacagtg aaggtgtggt ctggtgttcc tgcagagatg
     2461 ccaggcacca aaagacacca ctttgacttg ctggccgagc tggaacatga tgtcagtgta
     2521 gatacaatca gtttaaatgc tgcaagcaca ctgttagttt ccggcaccaa agaaggcaca
     2581 gtgaatattt gggacctcac aacggccacc ttaatgcacc agattccatg ccattcaggg
     2641 attgtatgtg acactgcttt tagcccagat agtcgccatg tcctcagcac aggaacagat
     2701 ggctgtctta atgtcattga tgtgcagaca ggaatgctca tctcctccat gacatcagat
     2761 gagccccaga ggtgctttgt ctgggatgga aattccgttt tatctggcag tcagtctggt
     2821 gaactgctcg tttgggacct ccttggagca aaaatcagtg agagaataca gggccacaca
     2881 ggtgctgtga catgtatatg gatgaatgaa cagtgtagca gtatcatcac aggaggggaa
     2941 gacagacaaa ttatattctg gaaattgcag tattaagtgc cttttcctct cctgaatatt
     3001 aaattgaact ctatttaatg catttttaaa ccaaactttt aaacggactg gtgaatgtgc
     3061 aatgttagta attagaagtt ttaccacatg gaaaatttgt ggttttaaac tttctaaatc
     3121 atggtgactt cattgaaagc cattagttgc tattctctta gggcagataa aatgcggctg
     3181 tgttaggaaa aacatgttac actgtaaggc agatgatcgt ccccgtatga tgattgtcag
     3241 aagacaggac taagtagcag agaatagcta agagataaat tgggctgggg aaacttgtca
     3301 gaaagcactg aacaattaag aaattttcca agaaaatgtg cagtattctc tgctacttct
     3361 gaatctgttt tgtcttccta atctatcaca attgccaccc atcgggtttt gggtgtgtgt
     3421 tttcatagcg tggttacttt ctataatgct gtacccagat tctaagaacc tggagaagga
     3481 ttagcagttc ttagtaagtt tactgtgtat aggaacggtt tgtatttcat tacagctatt
     3541 catcttttct acattaaaaa tatttttctc taaa
//
