LOCUS       NM_170601               5441 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens sialic acid acetylesterase (SIAE), transcript variant
            1, mRNA.
ACCESSION   NM_170601
VERSION     NM_170601.5
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 5441)
  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 5441)
  AUTHORS   Sevdali,E., Tsitsami,E., Tsinti,M., Farmaki,E.,
            Papadopoulou-Alataki,E., Germenis,A.E. and Speletas,M.
  TITLE     SIAE Rare Variants in Juvenile Idiopathic Arthritis and Primary
            Antibody Deficiencies
  JOURNAL   J Immunol Res 2017, 1514294 (2017)
   PUBMED   28900629
  REMARK    GeneRIF: analysis of whether SIAE rare variants associated with
            phenotype of juvenile idiopathic arthritis (JIA) and autoimmunity
            risk in families with primary antibody deficiencies(PADS); 3 novel
            variants were found in patients with JIA and in their healthy
            relatives without autoimmunity; none of PAD patients or their
            relatives had SIAE defects; results show SIAE rare variants are not
            causative of autoimmunity as single defects
REFERENCE   3  (bases 1 to 5441)
  AUTHORS   Zhang,D.D., He,F., Liu,H.T., Hao,F. and Zhu,J.
  TITLE     Lack of association between rare mutations of the SIAE gene and
            rheumatoid arthritis in a Han Chinese population
  JOURNAL   Genet Mol Res 14 (4), 14162-14168 (2015)
   PUBMED   26535733
  REMARK    GeneRIF: Authors determined whether mutations in the SIAE gene are
            responsible for RA in a Han Chinese population
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 5441)
  AUTHORS   Yu,B., Zheng,Y., Alexander,D., Morrison,A.C., Coresh,J. and
            Boerwinkle,E.
  TITLE     Genetic determinants influencing human serum metabolome among
            African Americans
  JOURNAL   PLoS Genet 10 (3), e1004212 (2014)
   PUBMED   24625756
  REMARK    Publication Status: Online-Only
REFERENCE   5  (bases 1 to 5441)
  AUTHORS   Yamamoto,M., Iguchi,G., Bando,H., Fukuoka,H., Suda,K.,
            Takahashi,M., Nishizawa,H., Matsumoto,R., Tojo,K., Mokubo,A.,
            Ogata,T. and Takahashi,Y.
  TITLE     A missense single-nucleotide polymorphism in the sialic acid
            acetylesterase (SIAE) gene is associated with anti-PIT-1 antibody
            syndrome
  JOURNAL   Endocr J 61 (6), 641-644 (2014)
   PUBMED   24748456
  REMARK    GeneRIF: We found A467V SIAE variants (c.1400C>T, rs7941523) in a
            heterozygous state in all the patients with anti-PIT-1 antibody
            syndrome.
REFERENCE   6  (bases 1 to 5441)
  AUTHORS   Gonzales,P.A., Pisitkun,T., Hoffert,J.D., Tchapyjnikov,D.,
            Star,R.A., Kleta,R., Wang,N.S. and Knepper,M.A.
  TITLE     Large-scale proteomics and phosphoproteomics of urinary exosomes
  JOURNAL   J Am Soc Nephrol 20 (2), 363-379 (2009)
   PUBMED   19056867
REFERENCE   7  (bases 1 to 5441)
  AUTHORS   Ferreira,M.A., O'Donovan,M.C., Meng,Y.A., Jones,I.R.,
            Ruderfer,D.M., Jones,L., Fan,J., Kirov,G., Perlis,R.H., Green,E.K.,
            Smoller,J.W., Grozeva,D., Stone,J., Nikolov,I., Chambert,K.,
            Hamshere,M.L., Nimgaonkar,V.L., Moskvina,V., Thase,M.E., Caesar,S.,
            Sachs,G.S., Franklin,J., Gordon-Smith,K., Ardlie,K.G.,
            Gabriel,S.B., Fraser,C., Blumenstiel,B., Defelice,M., Breen,G.,
            Gill,M., Morris,D.W., Elkin,A., Muir,W.J., McGhee,K.A.,
            Williamson,R., MacIntyre,D.J., MacLean,A.W., St,C.D., Robinson,M.,
            Van Beck,M., Pereira,A.C., Kandaswamy,R., McQuillin,A.,
            Collier,D.A., Bass,N.J., Young,A.H., Lawrence,J., Ferrier,I.N.,
            Anjorin,A., Farmer,A., Curtis,D., Scolnick,E.M., McGuffin,P.,
            Daly,M.J., Corvin,A.P., Holmans,P.A., Blackwood,D.H., Gurling,H.M.,
            Owen,M.J., Purcell,S.M., Sklar,P. and Craddock,N.
  CONSRTM   Wellcome Trust Case Control Consortium
  TITLE     Collaborative genome-wide association analysis supports a role for
            ANK3 and CACNA1C in bipolar disorder
  JOURNAL   Nat Genet 40 (9), 1056-1058 (2008)
   PUBMED   18711365
REFERENCE   8  (bases 1 to 5441)
  AUTHORS   Palmer,D.J., Kelly,V.C., Smit,A.M., Kuy,S., Knight,C.G. and
            Cooper,G.J.
  TITLE     Human colostrum: identification of minor proteins in the aqueous
            phase by proteomics
  JOURNAL   Proteomics 6 (7), 2208-2216 (2006)
   PUBMED   16502470
REFERENCE   9  (bases 1 to 5441)
  AUTHORS   Zhu,H., Chan,H.C., Zhou,Z., Li,J., Zhu,H., Yin,L., Xu,M., Cheng,L.
            and Sha,J.
  TITLE     A Gene Encoding Sialic-Acid-Specific 9-O-Acetylesterase Found in
            Human Adult Testis
  JOURNAL   J Biomed Biotechnol 2004 (3), 130-136 (2004)
   PUBMED   15292578
REFERENCE   10 (bases 1 to 5441)
  AUTHORS   Takematsu,H., Diaz,S., Stoddart,A., Zhang,Y. and Varki,A.
  TITLE     Lysosomal and cytosolic sialic acid 9-O-acetylesterase activities
            can Be encoded by one gene via differential usage of a signal
            peptide-encoding exon at the N terminus
  JOURNAL   J Biol Chem 274 (36), 25623-25631 (1999)
   PUBMED   10464298
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB027544.1, BC068450.1,
            AP001524.4, AA938533.1 and CA778291.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_170601.4.
            
            Summary: This gene encodes an enzyme which removes 9-O-acetylation
            modifications from sialic acids. Mutations in this gene are
            associated with susceptibility to autoimmune disease 6. Multiple
            transcript variants encoding different isoforms, found either in
            the cytosol or in the lysosome, have been found for this
            gene.[provided by RefSeq, Feb 2011].
            
            Transcript Variant: This variant (1) represents the shorter
            transcript but encodes the longer protein (isoform 1). Isoform 1,
            also referred to as Lse, is the lysosomal form of the protein.
            
            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 :: SRR1803614.90701.1,
                                           SRR1660805.247427.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000263593.8/ ENSP00000263593.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-402               DB027544.1         147-548
            403-1545            BC068450.1         531-1673
            1546-1546           AP001524.4         111980-111980       c
            1547-2414           BC068450.1         1675-2542
            2415-2760           AA938533.1         1-346               c
            2761-2765           CA778291.1         651-655
            2766-5441           AP001524.4         108085-110760       c
FEATURES             Location/Qualifiers
     source          1..5441
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q24.2"
     gene            1..5441
                     /gene="SIAE"
                     /gene_synonym="AIS6; CSE-C; CSEC; LSE; YSG2"
                     /note="sialic acid acetylesterase"
                     /db_xref="GeneID:54414"
                     /db_xref="HGNC:HGNC:18187"
                     /db_xref="MIM:610079"
     exon            1..98
                     /gene="SIAE"
                     /gene_synonym="AIS6; CSE-C; CSEC; LSE; YSG2"
                     /inference="alignment:Splign:2.1.0"
     CDS             32..1603
                     /gene="SIAE"
                     /gene_synonym="AIS6; CSE-C; CSEC; LSE; YSG2"
                     /EC_number="3.1.1.53"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1; cytosolic sialic acid 9-O-acetylesterase
                     homolog; sialic acid-specific acetylesterase II; sialate
                     O-acetylesterase; H-Lse"
                     /codon_start=1
                     /product="sialate O-acetylesterase isoform 1 precursor"
                     /protein_id="NP_733746.1"
                     /db_xref="CCDS:CCDS8449.1"
                     /db_xref="GeneID:54414"
                     /db_xref="HGNC:HGNC:18187"
                     /db_xref="MIM:610079"
                     /translation="MVAPGLVLGLVLPLILWADRSAGIGFRFASYINNDMVLQKEPAG
                     AVIWGFGTPGATVTVTLRQGQETIMKKVTSVKAHSDTWMVVLDPMKPGGPFEVMAQQT
                     LEKINFTLRVHDVLFGDVWLCSGQSNMQMTVLQIFNATRELSNTAAYQSVRILSVSPI
                     QAEQELEDLVAVDLQWSKPTSENLGHGYFKYMSAVCWLFGRHLYDTLQYPIGLIASSW
                     GGTPIEAWSSGRSLKACGVPKQGSIPYDSVTGPSKHSVLWNAMIHPLCNMTLKGVVWY
                     QGESNINYNTDLYNCTFPALIEDWRETFHRGSQGQTERFFPFGLVQLSSDLSKKSSDD
                     GFPQIRWHQTADFGYVPNPKMPNTFMAVAMDLCDRDSPFGSIHPRDKQTVAYRLHLGA
                     RALAYGEKNLTFEGPLPEKIELLAHKGLLNLTYYQQIQVQKKDNKIFEISCCSDHRCK
                     WLPASMNTVSTQSLTLAIDSCHGTVVALRYAWTTWPCEYKQCPLYHPSSALPAPPFIA
                     FITDQGPGHQSNVAK"
     exon            99..260
                     /gene="SIAE"
                     /gene_synonym="AIS6; CSE-C; CSEC; LSE; YSG2"
                     /inference="alignment:Splign:2.1.0"
     exon            261..436
                     /gene="SIAE"
                     /gene_synonym="AIS6; CSE-C; CSEC; LSE; YSG2"
                     /inference="alignment:Splign:2.1.0"
     exon            437..575
                     /gene="SIAE"
                     /gene_synonym="AIS6; CSE-C; CSEC; LSE; YSG2"
                     /inference="alignment:Splign:2.1.0"
     exon            576..753
                     /gene="SIAE"
                     /gene_synonym="AIS6; CSE-C; CSEC; LSE; YSG2"
                     /inference="alignment:Splign:2.1.0"
     exon            754..863
                     /gene="SIAE"
                     /gene_synonym="AIS6; CSE-C; CSEC; LSE; YSG2"
                     /inference="alignment:Splign:2.1.0"
     exon            864..997
                     /gene="SIAE"
                     /gene_synonym="AIS6; CSE-C; CSEC; LSE; YSG2"
                     /inference="alignment:Splign:2.1.0"
     exon            998..1155
                     /gene="SIAE"
                     /gene_synonym="AIS6; CSE-C; CSEC; LSE; YSG2"
                     /inference="alignment:Splign:2.1.0"
     exon            1156..1351
                     /gene="SIAE"
                     /gene_synonym="AIS6; CSE-C; CSEC; LSE; YSG2"
                     /inference="alignment:Splign:2.1.0"
     exon            1352..5441
                     /gene="SIAE"
                     /gene_synonym="AIS6; CSE-C; CSEC; LSE; YSG2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2739..2744
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SIAE"
                     /gene_synonym="AIS6; CSE-C; CSEC; LSE; YSG2"
                     /note="hexamer: AATAAA"
     polyA_site      2757
                     /gene="SIAE"
                     /gene_synonym="AIS6; CSE-C; CSEC; LSE; YSG2"
                     /note="major polyA site"
     regulatory      3934..3939
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SIAE"
                     /gene_synonym="AIS6; CSE-C; CSEC; LSE; YSG2"
                     /note="hexamer: AATGAA"
     polyA_site      3954
                     /gene="SIAE"
                     /gene_synonym="AIS6; CSE-C; CSEC; LSE; YSG2"
ORIGIN      
        1 agtcctaggc ggcggtcaga tccttgcaag catggtcgcg ccggggcttg tactcgggct
       61 ggtgctgcca ttaatcctgt gggccgacag aagtgcaggt attggttttc gctttgcttc
      121 atacatcaat aatgatatgg tgctgcagaa ggagcctgct ggggcagtga tatggggctt
      181 cggtacacct ggagccacag tgaccgtgac cctgcgccaa ggtcaggaaa ccatcatgaa
      241 gaaagtgacc agtgtgaaag ctcactctga tacgtggatg gtggtactgg atcctatgaa
      301 gcctggagga cctttcgaag tgatggcaca acagactttg gagaaaataa acttcaccct
      361 gagagttcat gacgtcctgt ttggagatgt ctggctctgt agtgggcaga gtaacatgca
      421 gatgactgtg ttacagatat ttaatgctac aagggagttg tctaacactg cggcatatca
      481 gtctgtccgc atcctctctg tctctcccat tcaagcagag caggagctgg aggaccttgt
      541 tgcggttgac ttgcagtggt ctaagcccac ctcagaaaac ttaggccatg gatatttcaa
      601 gtacatgtca gcagtgtgct ggctctttgg acgtcacctt tatgacactc tgcagtatcc
      661 catcgggctg atcgcctcca gctggggcgg gacacccatt gaagcctggt catctggacg
      721 gtcactgaaa gcctgtgggg tccctaaaca agggtccatt ccatacgatt ctgtaactgg
      781 tcccagtaag cactctgttc tctggaatgc catgatccat ccactgtgca atatgactct
      841 gaaaggggta gtatggtacc agggggagtc caatataaat tataacacgg atctgtacaa
      901 ttgcacattc cctgcactca tcgaagactg gcgtgaaacc ttccaccgtg gttcccaggg
      961 gcagacggag cgtttcttcc catttggact tgtccagtta tcttcagatt tgtctaagaa
     1021 gagctcagac gatggatttc cccagatccg ttggcatcaa acagcagact tcggctatgt
     1081 ccccaaccca aagatgccca atactttcat ggctgtagct atggatctct gtgatagaga
     1141 ctcgcctttt ggcagcatcc accctcgaga taaacagact gtggcttatc ggctgcattt
     1201 gggggcccgt gctctggctt atggtgagaa gaatttgacc tttgaaggac cactgcctga
     1261 gaagatagaa ctcttggctc acaaggggct gctcaatctc acatattacc agcaaatcca
     1321 ggtgcagaaa aaggacaaca agatatttga gatctcctgt tgcagtgacc atcgatgcaa
     1381 gtggcttcca gcttctatga acaccgtctc cacccagtcc ctgaccctgg cgatcgattc
     1441 ttgtcatggc actgtggttg ctctccgcta tgcttggacc acgtggcctt gtgaatataa
     1501 gcagtgtccc ctataccacc ccagtagtgc cctgccagcc cctcccttca ttgctttcat
     1561 tacagaccag ggtcctggac atcagagcaa tgttgctaaa tgactgtttc agtatgatca
     1621 gaacttagat ataaggatgg gtccttcaga ttttagcatt taggagtttc aataataacc
     1681 attgctttta aaggaaatta atagaaagcc tcattgaatg gctttcagct agcacatggc
     1741 tgtttctata ttctgatgag cccaggctta taggtaactt gaaatgcttg ctttttgttc
     1801 cctagttggt ctaagggtct gtattggact aattctgaac tacagacaaa ttggacctca
     1861 atgtcattta cttccctcat attaatggga gtgaaatgtc taatactttt gccccttttt
     1921 atccagagtt gtgggaatct caggattgga agagatttta aaggccacat aggccagcta
     1981 gtgttcatgt gttctttata aaatttctcc catccaagta ctaaccaggc ccgaccctgc
     2041 ttagcttccg agatcagatg agatcaggcg cgttcagggt gatatggccg tagacgtctt
     2101 tacaaaattc ctgacaggtg gttactgaat ctctctatga actttccatt caaaactttc
     2161 caagtttttc cttatgtgga accgaaatct ttctttctcc cgtgaaactt tactactatc
     2221 agataattga agacagatct ctttgtattc tcttcaagcc caaaccaatt ctgttccttc
     2281 aatctaaata gtggtaatat gaatgtttaa gaaatgaaat aagaaacatg tgcaggcact
     2341 ttggaaggtg ctaagtgact gccctaagga atgaaaagca agggccaggt gggagtagcc
     2401 cagcgaaggc acttgggctg ccaggaacag gaggcgtggg aaactctggc ttaggaaaac
     2461 atgaacacag gggcaacaga ggcaaactgt tgttcgagtt aaatataaat ctcaggctct
     2521 ttaaaggtaa aaggtttaag gataatccat ttggaagaag aaaagagtga ggctgaaagt
     2581 aaagccacat gacaagcata taaaaaaaaa tgcagatgat acaaatatga aagaggcctt
     2641 cagtgtttgt ttattaagaa tcttaatgca gtttactgat ggattaaaaa cagctaacat
     2701 tgtctgaaaa ttatgttacc tataagaagt tggaaataaa taaaagcata atcactagtg
     2761 atgtgtatgt atttatatcc acttgcaaac tgtccttgaa gcatgtgaaa aggagtaaga
     2821 atactatcta tgggtagctt tcctcccctt aatgtgaaaa atgagaacta aagcaaaaag
     2881 catcactcac tgtacatata caatgtattt tacgtagtgt aaaaaatatg gtttagatag
     2941 tgaatatatt aatgaaatca tatgtaaatt tatttttagt ggctgaataa tttaaaacat
     3001 tatgtggaat tcactatgtt tcccccaatt taggaacttt ttactgtgtg aaaatgaaat
     3061 ttataatact ctgtagggtg aatgatggtt tttgctttag ttctacccct ctgtagagtt
     3121 ccaaggggtt ctggtgtagc tccaaacagc aggaataact ttgtcagtgc caagatttta
     3181 tttagttaaa aaacaaaaaa tctacacact ttacaaggaa cgttggctcc cctgaggact
     3241 tcctagcatt caactcgttc agttaacccc tattgcccat gctttgacct ctcatgcatc
     3301 tggccccata gaaaccatga accttgtaac agattgatgc ctgagaaaaa gtcaatctac
     3361 ccgtccactc ctccactccc aatacacata cccccatggg ctgttctaat tcgggggcag
     3421 ccagaggtag ccaagaactc taagtccaga ttcctttcac ctccaggaac ctagagtaca
     3481 tagtgtgaaa aatacggttc aggcaatgat tatgttaatg acgccatgca cattcatttt
     3541 tagtggctga gtaatttaaa acatgatgtg ggaattcact gcatttcccc aaatgtaaga
     3601 actttttagt tttaaaatga aatttatagt cactgtagaa aatttggaca ctaaagtata
     3661 agcaagtaaa aatcaccccc aaattcatca ttcagagaaa cactattttg ctgaaccatt
     3721 cacttgactt gagttatata attttataca gtacatatta ttttgtaatc tgtgtttttg
     3781 acttacttac tttaccaaaa taattttctt atgtaaataa tagaatatag atttagagtg
     3841 tttcagtttg tggaagcctc attttattta accaatttcc tattaatgga catatagatt
     3901 tttaacaatt ttctactatt aaaataatac tgtaatgaat atcacatgca aacatcatac
     3961 cacactcgtc cagttatttc ttagggttct taacatggaa gaggataaat atatatttaa
     4021 aatttagata tctacagctt aaccctccca aaggattaaa caacttacat tctcaccaag
     4081 gtagtccttt ttttgccctc accctcattg acactggatg ttgtcaaatt taaaaaaaat
     4141 ccttaacaat ctgatagatg aaaagatagt ttaagtatac taaggcagtg tttttcaagg
     4201 tgtttttgtt tttgtttttg agttggagtt ttgctctgtt gcccaggctg gagtgcagtg
     4261 gcgcggtctc ggctcactgc aacctctgcc tcccgggttc aagcgattct tcctgcctca
     4321 gcctcccgag tagctgggac tacaggcgcg tgccaccacg cctggctaat tttttgtatt
     4381 tttattagag accgacttag ccaggatggt ctcgatctcc tgacctcttg atccacccgc
     4441 ctcagcctcc caaagtgctg ggattacagg cgtgagccac cgtgcccagc ttttcaagtt
     4501 tcttaaatcc atgatccata gtaaaaacat tttacacata tcttcataca agtatatgta
     4561 tatgtggtat acgtacacac tatagttgta tatgcattat agctgaaaaa ccagttcaac
     4621 ctttctacat gtggtatgtt ccaaaaattt taaatgtctt tctaaaatga ggctctttta
     4681 atacgggtat tactcaggct gtaatagtgg gaaaatattt gttatatgat aaaagcagca
     4741 tatatcattt ctgtgtaaat gccagtatgc tcaagccatt tatgcagaga aaaaaagaaa
     4801 aacactgcat taacatttta agcagtcccc ttcccgattt gctattatac aaagtttgtt
     4861 tcttttacat tgtaaagtgt atacaactta taaaaagact atactcaaaa tcataaaata
     4921 ccagttaact tagcttctca gtttacagtg gccagtgtgg tgtgctctaa acactgctgc
     4981 ctgatccctc cctctgctgg tcagatttat tactataaag taccaatccc atttgtgttg
     5041 tcctcaattg gcaattatga atggcagtgc attaaccatt caattctcac cactccatcc
     5101 ccattcttct acttctgggt ccttttgtcc ctccctttcc agacagccct tggtaacctg
     5161 ctgctgggta actaaggcat cccacaggta gtgttgaggt gttaggtgat agagtaaacc
     5221 tctaccttaa tgctattaac agggtccaaa aatccagttg catggaacat ggagttatat
     5281 tattacatgg ctaatgaaaa gacaggacta agtctgttat agagtatggg actaaccccc
     5341 aattatatgt gaatttgtgt tatcatatgg tttcagtgta ctgagctaaa aagcacatta
     5401 tctgaggtgc aatacaaagg ttaaagaggt taaagatccc c
//
