LOCUS       NM_182760               2147 bp    mRNA    linear   PRI 08-OCT-2024
DEFINITION  Homo sapiens sulfatase modifying factor 1 (SUMF1), transcript
            variant 1, mRNA.
ACCESSION   NM_182760
VERSION     NM_182760.4
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 2147)
  AUTHORS   Zhang,P., Liu,Z., Wang,Y.Y., Luo,H.J., Yang,C.Z., Shen,H., Wu,H.T.,
            Li,J.H., Zhao,H.X. and Ran,Q.S.
  TITLE     SUMF1 overexpression promotes tumorous cell growth and migration
            and is correlated with the immune status of patients with glioma
  JOURNAL   Aging (Albany NY) 16 (5), 4699-4722 (2024)
   PUBMED   38460946
  REMARK    GeneRIF: SUMF1 overexpression promotes tumorous cell growth and
            migration and is correlated with the immune status of patients with
            glioma.
REFERENCE   2  (bases 1 to 2147)
  AUTHORS   Liang,S., Gao,H., He,T., Li,L., Zhang,X., Zhao,L., Chen,J., Xie,Y.,
            Bao,J., Gao,Y., Dai,E. and Wang,Y.
  TITLE     Association between SUMF1 polymorphisms and COVID-19 severity
  JOURNAL   BMC Genom Data 24 (1), 34 (2023)
   PUBMED   37344788
  REMARK    GeneRIF: Association between SUMF1 polymorphisms and COVID-19
            severity.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2147)
  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   4  (bases 1 to 2147)
  AUTHORS   Adang,L.A., Schlotawa,L., Groeschel,S., Kehrer,C., Harzer,K.,
            Staretz-Chacham,O., Silva,T.O., Schwartz,I.V.D., Gartner,J., De
            Castro,M., Costin,C., Montgomery,E.F., Dierks,T., Radhakrishnan,K.
            and Ahrens-Nicklas,R.C.
  TITLE     Natural history of multiple sulfatase deficiency: Retrospective
            phenotyping and functional variant analysis to characterize an
            ultra-rare disease
  JOURNAL   J Inherit Metab Dis 43 (6), 1298-1309 (2020)
   PUBMED   32749716
  REMARK    GeneRIF: Natural history of multiple sulfatase deficiency:
            Retrospective phenotyping and functional variant analysis to
            characterize an ultra-rare disease.
REFERENCE   5  (bases 1 to 2147)
  AUTHORS   Cosma,M.P., Pepe,S., Parenti,G., Settembre,C., Annunziata,I.,
            Wade-Martins,R., Di Domenico,C., Di Natale,P., Mankad,A., Cox,B.,
            Uziel,G., Mancini,G.M., Zammarchi,E., Donati,M.A., Kleijer,W.J.,
            Filocamo,M., Carrozzo,R., Carella,M. and Ballabio,A.
  TITLE     Molecular and functional analysis of SUMF1 mutations in multiple
            sulfatase deficiency
  JOURNAL   Hum Mutat 23 (6), 576-581 (2004)
   PUBMED   15146462
  REMARK    GeneRIF: mutational analysis of SUMF1 in 20 Multiple sulfatase
            deficiency patients of different ethnic origin
REFERENCE   6  (bases 1 to 2147)
  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   7  (bases 1 to 2147)
  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
REFERENCE   8  (bases 1 to 2147)
  AUTHORS   Cross,S.H., Charlton,J.A., Nan,X. and Bird,A.P.
  TITLE     Purification of CpG islands using a methylated DNA binding column
  JOURNAL   Nat Genet 6 (3), 236-244 (1994)
   PUBMED   8012384
REFERENCE   9  (bases 1 to 2147)
  AUTHORS   Schlotawa,L., Adang,L., De Castro,M. and Ahrens-Nicklas,R.
  TITLE     Multiple Sulfatase Deficiency
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   30896912
REFERENCE   10 (bases 1 to 2147)
  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
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC121122.2, AC034191.6 and
            CA413741.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_182760.3.
            
            Summary: This gene encodes an enzyme that catalyzes the hydrolysis
            of sulfate esters by oxidizing a cysteine residue in the substrate
            sulfatase to an active site 3-oxoalanine residue, which is also
            known as C-alpha-formylglycine. Mutations in this gene cause
            multiple sulfatase deficiency, a lysosomal storage disorder.
            Alternative splicing results in multiple transcript variants.
            [provided by RefSeq, Sep 2009].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest 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 :: SRR1660803.48703.1,
                                           SRR1803615.30731.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000272902.10/ ENSP00000272902.5
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1139              BC121122.2         6-1144
            1140-2130           AC034191.6         154711-155701       c
            2131-2147           CA413741.1         20-36               c
FEATURES             Location/Qualifiers
     source          1..2147
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p26.1"
     gene            1..2147
                     /gene="SUMF1"
                     /gene_synonym="AAPA3037; FGE; UNQ3037"
                     /note="sulfatase modifying factor 1"
                     /db_xref="GeneID:285362"
                     /db_xref="HGNC:HGNC:20376"
                     /db_xref="MIM:607939"
     exon            1..294
                     /gene="SUMF1"
                     /gene_synonym="AAPA3037; FGE; UNQ3037"
                     /inference="alignment:Splign:2.1.0"
     CDS             25..1149
                     /gene="SUMF1"
                     /gene_synonym="AAPA3037; FGE; UNQ3037"
                     /EC_number="1.8.3.7"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1; FGly-generating enzyme;
                     C-alpha-formylglycine-generating enzyme 1"
                     /codon_start=1
                     /product="formylglycine-generating enzyme isoform 1
                     precursor"
                     /protein_id="NP_877437.2"
                     /db_xref="CCDS:CCDS2564.1"
                     /db_xref="GeneID:285362"
                     /db_xref="HGNC:HGNC:20376"
                     /db_xref="MIM:607939"
                     /translation="MAAPALGLVCGRCPELGLVLLLLLLSLLCGAAGSQEAGTGAGAG
                     SLAGSCGCGTPQRPGAHGSSAAAHRYSREANAPGPVPGERQLAHSKMVPIPAGVFTMG
                     TDDPQIKQDGEAPARRVTIDAFYMDAYEVSNTEFEKFVNSTGYLTEAEKFGDSFVFEG
                     MLSEQVKTNIQQAVAAAPWWLPVKGANWRHPEGPDSTILHRPDHPVLHVSWNDAVAYC
                     TWAGKRLPTEAEWEYSCRGGLHNRLFPWGNKLQPKGQHYANIWQGEFPVTNTGEDGFQ
                     GTAPVDAFPPNGYGLYNIVGNAWEWTSDWWTVHHSVEETLNPKGPPSGKDRVKKGGSY
                     MCHRSYCYRYRCAARSQNTPDSSASNLGFRCAADRLPTMD"
     exon            295..468
                     /gene="SUMF1"
                     /gene_synonym="AAPA3037; FGE; UNQ3037"
                     /inference="alignment:Splign:2.1.0"
     exon            469..543
                     /gene="SUMF1"
                     /gene_synonym="AAPA3037; FGE; UNQ3037"
                     /inference="alignment:Splign:2.1.0"
     exon            544..626
                     /gene="SUMF1"
                     /gene_synonym="AAPA3037; FGE; UNQ3037"
                     /inference="alignment:Splign:2.1.0"
     exon            627..749
                     /gene="SUMF1"
                     /gene_synonym="AAPA3037; FGE; UNQ3037"
                     /inference="alignment:Splign:2.1.0"
     exon            750..864
                     /gene="SUMF1"
                     /gene_synonym="AAPA3037; FGE; UNQ3037"
                     /inference="alignment:Splign:2.1.0"
     exon            865..978
                     /gene="SUMF1"
                     /gene_synonym="AAPA3037; FGE; UNQ3037"
                     /inference="alignment:Splign:2.1.0"
     exon            979..1038
                     /gene="SUMF1"
                     /gene_synonym="AAPA3037; FGE; UNQ3037"
                     /inference="alignment:Splign:2.1.0"
     exon            1039..2147
                     /gene="SUMF1"
                     /gene_synonym="AAPA3037; FGE; UNQ3037"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2124..2129
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SUMF1"
                     /gene_synonym="AAPA3037; FGE; UNQ3037"
                     /note="hexamer: AATAAA"
     polyA_site      2147
                     /gene="SUMF1"
                     /gene_synonym="AAPA3037; FGE; UNQ3037"
                     /note="major polyA site"
ORIGIN      
        1 gggtcacatg gcccgcggga caacatggct gcgcccgcac tagggctggt gtgtggacgt
       61 tgccctgagc tgggtctcgt cctcttgctg ctgctgctct cgctgctgtg tggagcggca
      121 gggagccagg aggccgggac cggtgcgggc gcggggtccc ttgcgggttc ttgcggctgc
      181 ggcacgcccc agcggcctgg cgcccatggc agttcggcag ccgctcaccg atactcgcgg
      241 gaggctaacg ctccgggccc cgtacccgga gagcggcaac tcgcgcactc aaagatggtc
      301 cccatccctg ctggagtatt tacaatgggc acagatgatc ctcagataaa gcaggatggg
      361 gaagcacctg cgaggagagt tactattgat gccttttaca tggatgccta tgaagtcagt
      421 aatactgaat ttgagaagtt tgtgaactca actggctatt tgacagaggc tgagaagttt
      481 ggcgactcct ttgtctttga aggcatgttg agtgagcaag tgaagaccaa tattcaacag
      541 gcagttgcag ctgctccctg gtggttacct gtgaaaggcg ctaactggag acacccagaa
      601 gggcctgact ctactattct gcacaggccg gatcatccag ttctccatgt gtcctggaat
      661 gatgcggttg cctactgcac ttgggcaggg aagcggctgc ccacggaagc tgagtgggaa
      721 tacagctgtc gaggaggcct gcataataga cttttcccct ggggcaacaa actgcagccc
      781 aaaggccagc attatgccaa catttggcag ggcgagtttc cggtgaccaa cactggtgag
      841 gatggcttcc aaggaactgc gcctgttgat gccttccctc ccaatggtta tggcttatac
      901 aacatagtgg ggaacgcatg ggaatggact tcagactggt ggactgttca tcattctgtt
      961 gaagaaacgc ttaacccaaa aggtccccct tctgggaaag accgagtgaa gaaaggtgga
     1021 tcctacatgt gccataggtc ttattgttac aggtatcgct gtgctgctcg gagccagaac
     1081 acacctgata gctctgcttc gaatctggga ttccgctgtg cagccgaccg cctgcccact
     1141 atggactgac aaccaaggaa agtcttcccc agtccaagga gcagtcgtgt ctgacctaca
     1201 ttgggctttt ctcagaactt tgaacgatcc catgcaaaga attcccaccc tgaggtgggt
     1261 tacatacctg cccaatggcc aaaggaaccg ccttgtgaga ccaaattgct gacctgggtc
     1321 agtgcatgtg ctttatggtg tggtgcatct ttggagatca tcaccatatt ttacttttga
     1381 gagtctttaa agaggaaggg gagtggaggg aaccctgagc taggcttcag gaggcccgcg
     1441 tcctacgcag gctctgccac aggggttaga ccccaggtcc gacgcttgac cttcctgggc
     1501 ctcaagtgcc ctcccctatc aaatgaaggg atggacagca tgacctctgg gtgtctctcc
     1561 aactcaccag ttctaaaaag ggtatcagat tctattgtga cttcatagtg agaatttatt
     1621 atagattatt ttttagctat tttttccatg tgtgaacctt gagtgatact aatcatgtaa
     1681 agtaagagtt ctcttatgta ttattttcgg aagaggggtg tggtgactcc tttatattcg
     1741 tactgcactt tgtttttcca aggaaatcag tgtcttttac gttgttatga tgaatcccac
     1801 atggggccgg tgatggtatg ctgaagttca gccgttgaac acataggaat gtctgtgggg
     1861 tgactctact gtgctttatc ttttaacatt aagtgccttt ggttcagagg ggcagtcata
     1921 agctctgttt ccccctctcc ccaaagcctt cagcgaacgt gaaatgtgcg ctaaacgggg
     1981 aaacctgttt aattctagat atagggaaaa aggaacgagg accttgaatg agctatattc
     2041 agggtatccg gtattttgta atagggaata ggaaaccttg ttggctgtgg aatatccgat
     2101 gctttgaatc atgcactgtg ttgaataaac gtatctgcta aatcagg
//
