LOCUS       NM_015411               1990 bp    mRNA    linear   PRI 06-APR-2024
DEFINITION  Homo sapiens sulfatase modifying factor 2 (SUMF2), transcript
            variant 2, mRNA.
ACCESSION   NM_015411
VERSION     NM_015411.4
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 1990)
  AUTHORS   Zhou,Y., Liu,Y., Gupta,S., Paramo,M.I., Hou,Y., Mao,C., Luo,Y.,
            Judd,J., Wierbowski,S., Bertolotti,M., Nerkar,M., Jehi,L.,
            Drayman,N., Nicolaescu,V., Gula,H., Tay,S., Randall,G., Wang,P.,
            Lis,J.T., Feschotte,C., Erzurum,S.C., Cheng,F. and Yu,H.
  TITLE     A comprehensive SARS-CoV-2-human protein-protein interactome
            reveals COVID-19 pathobiology and potential host therapeutic
            targets
  JOURNAL   Nat Biotechnol 41 (1), 128-139 (2023)
   PUBMED   36217030
REFERENCE   2  (bases 1 to 1990)
  AUTHORS   Su,J.Q., Lai,P.Y., Hu,P.H., Hu,J.M., Chang,P.K., Chen,C.Y.,
            Wu,J.J., Lin,Y.J., Sun,C.A., Yang,T., Hsu,C.H., Lin,H.C. and
            Chou,Y.C.
  TITLE     Differential DNA methylation analysis of SUMF2, ADAMTS5, and PXDN
            provides novel insights into colorectal cancer prognosis prediction
            in Taiwan
  JOURNAL   World J Gastroenterol 28 (8), 825-839 (2022)
   PUBMED   35317099
  REMARK    GeneRIF: Differential DNA methylation analysis of SUMF2, ADAMTS5,
            and PXDN provides novel insights into colorectal cancer prognosis
            prediction in Taiwan.
REFERENCE   3  (bases 1 to 1990)
  AUTHORS   Stukalov,A., Girault,V., Grass,V., Karayel,O., Bergant,V.,
            Urban,C., Haas,D.A., Huang,Y., Oubraham,L., Wang,A., Hamad,M.S.,
            Piras,A., Hansen,F.M., Tanzer,M.C., Paron,I., Zinzula,L.,
            Engleitner,T., Reinecke,M., Lavacca,T.M., Ehmann,R., Wolfel,R.,
            Jores,J., Kuster,B., Protzer,U., Rad,R., Ziebuhr,J., Thiel,V.,
            Scaturro,P., Mann,M. and Pichlmair,A.
  TITLE     Multilevel proteomics reveals host perturbations by SARS-CoV-2 and
            SARS-CoV
  JOURNAL   Nature 594 (7862), 246-252 (2021)
   PUBMED   33845483
REFERENCE   4  (bases 1 to 1990)
  AUTHORS   Li,J., Guo,M., Tian,X., Wang,X., Yang,X., Wu,P., Liu,C., Xiao,Z.,
            Qu,Y., Yin,Y., Wang,C., Zhang,Y., Zhu,Z., Liu,Z., Peng,C., Zhu,T.
            and Liang,Q.
  TITLE     Virus-Host Interactome and Proteomic Survey Reveal Potential
            Virulence Factors Influencing SARS-CoV-2 Pathogenesis
  JOURNAL   Med 2 (1), 99-112 (2021)
   PUBMED   32838362
REFERENCE   5  (bases 1 to 1990)
  AUTHORS   Haenig,C., Atias,N., Taylor,A.K., Mazza,A., Schaefer,M.H., Russ,J.,
            Riechers,S.P., Jain,S., Coughlin,M., Fontaine,J.F., Freibaum,B.D.,
            Brusendorf,L., Zenkner,M., Porras,P., Stroedicke,M., Schnoegl,S.,
            Arnsburg,K., Boeddrich,A., Pigazzini,L., Heutink,P., Taylor,J.P.,
            Kirstein,J., Andrade-Navarro,M.A., Sharan,R. and Wanker,E.E.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   6  (bases 1 to 1990)
  AUTHORS   Mariappan,M., Preusser-Kunze,A., Balleininger,M., Eiselt,N.,
            Schmidt,B., Gande,S.L., Wenzel,D., Dierks,T. and von Figura,K.
  TITLE     Expression, localization, structural, and functional
            characterization of pFGE, the paralog of the
            Calpha-formylglycine-generating enzyme
  JOURNAL   J Biol Chem 280 (15), 15173-15179 (2005)
   PUBMED   15708861
  REMARK    GeneRIF: pFGE (SUMF2) is the paralog of the
            Calpha-formylglycine-generating enzyme
REFERENCE   7  (bases 1 to 1990)
  AUTHORS   Colland,F., Jacq,X., Trouplin,V., Mougin,C., Groizeleau,C.,
            Hamburger,A., Meil,A., Wojcik,J., Legrain,P. and Gauthier,J.M.
  TITLE     Functional proteomics mapping of a human signaling pathway
  JOURNAL   Genome Res 14 (7), 1324-1332 (2004)
   PUBMED   15231748
REFERENCE   8  (bases 1 to 1990)
  AUTHORS   Landgrebe,J., Dierks,T., Schmidt,B. and von Figura,K.
  TITLE     The human SUMF1 gene, required for posttranslational sulfatase
            modification, defines a new gene family which is conserved from
            pro- to eukaryotes
  JOURNAL   Gene 316, 47-56 (2003)
   PUBMED   14563551
REFERENCE   9  (bases 1 to 1990)
  AUTHORS   Cosma,M.P., Pepe,S., Annunziata,I., Newbold,R.F., Grompe,M.,
            Parenti,G. and Ballabio,A.
  TITLE     The multiple sulfatase deficiency gene encodes an essential and
            limiting factor for the activity of sulfatases
  JOURNAL   Cell 113 (4), 445-456 (2003)
   PUBMED   12757706
REFERENCE   10 (bases 1 to 1990)
  AUTHORS   Dierks,T., Schmidt,B., Borissenko,L.V., Peng,J., Preusser,A.,
            Mariappan,M. and von Figura,K.
  TITLE     Multiple sulfatase deficiency is caused by mutations in the gene
            encoding the human C(alpha)-formylglycine generating enzyme
  JOURNAL   Cell 113 (4), 435-444 (2003)
   PUBMED   12757705
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BP296294.1, KU178583.1,
            AK075477.1, CR936757.1 and BC084539.1.
            
            On Jun 2, 2019 this sequence version replaced NM_015411.3.
            
            Summary: The catalytic sites of sulfatases are only active if they
            contain a unique amino acid, C-alpha-formylglycine (FGly). The FGly
            residue is posttranslationally generated from a cysteine by enzymes
            with FGly-generating activity. The gene described in this record is
            a member of the sulfatase-modifying factor family and encodes a
            protein with a DUF323 domain that localizes to the lumen of the
            endoplasmic reticulum. This protein has low levels of
            FGly-generating activity but can heterodimerize with another family
            member - a protein with high levels of FGly-generating activity.
            Alternate transcriptional splice variants, encoding different
            isoforms, have been characterized. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (2) represents the longest
            transcript and encodes isoform b.
            
            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 :: SRR3476690.3675.1, GQ901035.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000434526.8/ ENSP00000400922.3
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-178               BP296294.1         285-462
            179-179             KU178583.1         66-66
            180-1215            AK075477.1         201-1236
            1216-1816           CR936757.1         1221-1821
            1817-1817           BC084539.1         1810-1810
            1818-1990           CR936757.1         1823-1995
FEATURES             Location/Qualifiers
     source          1..1990
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7p11.2"
     gene            1..1990
                     /gene="SUMF2"
                     /gene_synonym="pFGE"
                     /note="sulfatase modifying factor 2"
                     /db_xref="GeneID:25870"
                     /db_xref="HGNC:HGNC:20415"
                     /db_xref="MIM:607940"
     exon            1..93
                     /gene="SUMF2"
                     /gene_synonym="pFGE"
                     /inference="alignment:Splign:2.1.0"
     CDS             27..932
                     /gene="SUMF2"
                     /gene_synonym="pFGE"
                     /note="isoform b precursor is encoded by transcript
                     variant 2; C-alpha-formyglycine-generating enzyme 2;
                     paralog of the formylglycine-generating enzyme;
                     C-alpha-formylglycine-generating enzyme 2; paralog of
                     formylglycine-generating enzyme; inactive
                     C-alpha-formylglycine-generating enzyme 2; epididymis
                     secretory sperm binding protein"
                     /codon_start=1
                     /product="inactive C-alpha-formylglycine-generating enzyme
                     2 isoform b precursor"
                     /protein_id="NP_056226.3"
                     /db_xref="CCDS:CCDS5524.3"
                     /db_xref="GeneID:25870"
                     /db_xref="HGNC:HGNC:20415"
                     /db_xref="MIM:607940"
                     /translation="MARHGLPLLPLLSLLVGAWLKLGNGQATSMVQLQGGRFLMGTNS
                     PDSRDGDGPVREATVKPFAIDIFPVTNKDFRDFVREKKYRTEAEMFGWSFVFEDFVSD
                     ELRNKATQPMKSVLWWLPVEKAFWRQPAGPGSGIRERLEHPVLHVSWNDARAYCAWRG
                     KRLPTEEEWEFAARGGLKGQVYPWGNWFQPNRTNLWQGKFPKGDKAEDGFHGVSPVNA
                     FPAQNNYGLYDLLGNVWEWTASPYQAAEQDMRVLRGASWIDTADGSANHRARVTTRMG
                     NTPDSASDNLGFRCAADAGRPPGEL"
     exon            94..250
                     /gene="SUMF2"
                     /gene_synonym="pFGE"
                     /inference="alignment:Splign:2.1.0"
     exon            251..365
                     /gene="SUMF2"
                     /gene_synonym="pFGE"
                     /inference="alignment:Splign:2.1.0"
     exon            366..410
                     /gene="SUMF2"
                     /gene_synonym="pFGE"
                     /inference="alignment:Splign:2.1.0"
     exon            411..561
                     /gene="SUMF2"
                     /gene_synonym="pFGE"
                     /inference="alignment:Splign:2.1.0"
     exon            562..617
                     /gene="SUMF2"
                     /gene_synonym="pFGE"
                     /inference="alignment:Splign:2.1.0"
     exon            618..702
                     /gene="SUMF2"
                     /gene_synonym="pFGE"
                     /inference="alignment:Splign:2.1.0"
     exon            703..847
                     /gene="SUMF2"
                     /gene_synonym="pFGE"
                     /inference="alignment:Splign:2.1.0"
     exon            848..1990
                     /gene="SUMF2"
                     /gene_synonym="pFGE"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1962..1967
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SUMF2"
                     /gene_synonym="pFGE"
                     /note="hexamer: AATAAA"
     polyA_site      1990
                     /gene="SUMF2"
                     /gene_synonym="pFGE"
                     /note="major polyA site"
ORIGIN      
        1 gtacgcggcg cagcgcggca gtcctgatgg cccggcatgg gttaccgctg ctgcccctgc
       61 tgtcgctcct ggtcggcgcg tggctcaagc taggaaatgg acaggctact agcatggtcc
      121 aactgcaggg tgggagattc ctgatgggaa caaattctcc agacagcaga gatggtgacg
      181 ggcctgtgcg ggaggcgaca gtgaaaccct ttgccatcga catatttcct gtcaccaaca
      241 aagatttcag ggattttgtc agggagaaaa agtatcggac agaagctgag atgtttggat
      301 ggagctttgt ctttgaggac tttgtctctg atgagctgag aaacaaagcc acccagccaa
      361 tgaagtctgt actctggtgg cttccagtgg aaaaggcatt ttggaggcag cctgcaggtc
      421 ctggctctgg catccgagag agactggagc acccagtgtt acacgtgagc tggaatgacg
      481 cccgtgccta ctgtgcttgg cggggaaaac gactgcccac ggaggaagag tgggagtttg
      541 ccgcccgagg gggcttgaag ggtcaagttt acccatgggg gaactggttc cagccaaacc
      601 gcaccaacct gtggcaggga aagttcccca agggagacaa agctgaggat ggcttccatg
      661 gagtctcccc agtgaatgct ttccccgccc agaacaacta cgggctctat gacctcctgg
      721 ggaacgtgtg ggagtggaca gcatcaccgt accaggctgc tgagcaggac atgcgcgtcc
      781 tccggggggc atcctggatc gacacagctg atggctctgc caatcaccgg gcccgggtca
      841 ccaccaggat gggcaacact ccagattcag cctcagacaa cctcggtttc cgctgtgctg
      901 cagacgcagg ccggccgcca ggggagctgt aagcagccgg gtggtgacaa ggagaaaagc
      961 cttctagggt cactgtcatt ccctggccat gttgcaaaca gcgcaattcc aagctcgaga
     1021 gcttcagcct caggaaagaa cttccccttc cctgtctccc atccctctgt ggcaggcgcc
     1081 tctcaccagg gcaggagagg actcagcctc ctgtgttttg gagaaggggc ccaatgtgtg
     1141 ttgacgatgg ctgggggcca ggtgtttctg ttagaggcca agtattattg acacaggatt
     1201 gcaaacacac aaacaattgg aacagagcac tctgaaaggc cattttttaa gcattttaaa
     1261 atctattctc tccccctttc tccctggatg attcaggaag ctgacattgt ttcctcaagg
     1321 cagaattttc ctggttctgt tttctcagcc agttgctgtg gaaggagaat gctttctttg
     1381 tggcctcatc tgtggtttcg tgtccctctg aaggaaacta gtttccactg tgtaacaggc
     1441 agacatgtaa ctatttaaag cacagttcag tcctaaaagg gtctgggaga accagatgat
     1501 gtactaggtg aagcattgca ttgtgggaat cacaaagcaa atagtactcc agaaagacaa
     1561 atatcagaag cttcctattc tttttttttt tttttttttt tttgagacag ggtctttctc
     1621 tgttgcccag gctagagtgc actggtgatc acggctcact ctagccttga attcctgggc
     1681 ccaagcaatt ctcccacctc agcctcctga gtagctggga ctacaagtgt gcaccaccat
     1741 gcctggctaa ttttttgaat ttttgtagtg atgggatctc gctctgttgc ccagggtggt
     1801 ctcgaactcc tggcctcaag cgatcctccc acctcgacct cccaaagtgc tgggattaca
     1861 ggtgtgagcc acctcgcctg ggcccccttc tccatatgcc tccaaaaaca tgtccctgga
     1921 gagtagcctg ctcccacact gtcactggat gtcatggggc caataaaatc tcctgcaatt
     1981 gtgtatctca
//
