LOCUS       NM_000404               2523 bp    mRNA    linear   PRI 08-OCT-2024
DEFINITION  Homo sapiens galactosidase beta 1 (GLB1), transcript variant 1,
            mRNA.
ACCESSION   NM_000404
VERSION     NM_000404.4
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 2523)
  AUTHORS   Phadwal,K., Tang,Q.Y., Luijten,I., Zhao,J.F., Corcoran,B.,
            Semple,R.K., Ganley,I.G. and MacRae,V.E.
  TITLE     p53 Regulates Mitochondrial Dynamics in Vascular Smooth Muscle Cell
            Calcification
  JOURNAL   Int J Mol Sci 24 (2), 1643 (2023)
   PUBMED   36675156
  REMARK    GeneRIF: p53 Regulates Mitochondrial Dynamics in Vascular Smooth
            Muscle Cell Calcification.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2523)
  AUTHORS   Malvezzi,H., Cestari,B.A., Meola,J. and Podgaec,S.
  TITLE     Higher Oxidative Stress in Endometriotic Lesions Upregulates
            Senescence-Associated p16ink4a and beta-Galactosidase in Stromal
            Cells
  JOURNAL   Int J Mol Sci 24 (2), 914 (2023)
   PUBMED   36674426
  REMARK    GeneRIF: Higher Oxidative Stress in Endometriotic Lesions
            Upregulates Senescence-Associated p16[ink4a] and beta-Galactosidase
            in Stromal Cells.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2523)
  AUTHORS   Martinez-Zamudio,R.I., Dewald,H.K., Vasilopoulos,T.,
            Gittens-Williams,L., Fitzgerald-Bocarsly,P. and Herbig,U.
  TITLE     Senescence-associated beta-galactosidase reveals the abundance of
            senescent CD8+ T cells in aging humans
  JOURNAL   Aging Cell 20 (5), e13344 (2021)
   PUBMED   33939265
  REMARK    GeneRIF: Senescence-associated beta-galactosidase reveals the
            abundance of senescent CD8+ T cells in aging humans.
REFERENCE   4  (bases 1 to 2523)
  AUTHORS   Alessio,N., Aprile,D., Cappabianca,S., Peluso,G., Di Bernardo,G.
            and Galderisi,U.
  TITLE     Different Stages of Quiescence, Senescence, and Cell Stress
            Identified by Molecular Algorithm Based on the Expression of Ki67,
            RPS6, and Beta-Galactosidase Activity
  JOURNAL   Int J Mol Sci 22 (6), 3102 (2021)
   PUBMED   33803589
  REMARK    GeneRIF: Different Stages of Quiescence, Senescence, and Cell
            Stress Identified by Molecular Algorithm Based on the Expression of
            Ki67, RPS6, and Beta-Galactosidase Activity.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2523)
  AUTHORS   Regier,D.S., Tifft,C.J. and Rothermel,C.E.
  TITLE     GLB1-Related Disorders
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   24156116
REFERENCE   6  (bases 1 to 2523)
  AUTHORS   Klein,C., Lohmann,K., Marras,C. and Munchau,A.
  TITLE     Hereditary Dystonia Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301334
REFERENCE   7  (bases 1 to 2523)
  AUTHORS   Yoshida,K., Oshima,A., Sakuraba,H., Nakano,T., Yanagisawa,N.,
            Inui,K., Okada,S., Uyama,E., Namba,R., Kondo,K. et al.
  TITLE     GM1 gangliosidosis in adults: clinical and molecular analysis of 16
            Japanese patients
  JOURNAL   Ann Neurol 31 (3), 328-332 (1992)
   PUBMED   1353343
REFERENCE   8  (bases 1 to 2523)
  AUTHORS   Oshima,A., Tsuji,A., Nagao,Y., Sakuraba,H. and Suzuki,Y.
  TITLE     Cloning, sequencing, and expression of cDNA for human
            beta-galactosidase
  JOURNAL   Biochem Biophys Res Commun 157 (1), 238-244 (1988)
   PUBMED   3143362
REFERENCE   9  (bases 1 to 2523)
  AUTHORS   Shows,T.B., Scrafford-Wolff,L.R., Brown,J.A. and Meisler,M.H.
  TITLE     GM1-gangliosidosis: chromosome 3 assignment of the
            beta-galactosidase-A gene (beta GALA)
  JOURNAL   Somatic Cell Genet 5 (2), 147-158 (1979)
   PUBMED   113895
REFERENCE   10 (bases 1 to 2523)
  AUTHORS   Shows,T.B., Scrafford-Wolff,L., Brown,J.A. and Meisler,M.
  TITLE     Assignment of a beta-galactosidase gene (beta GALA) to chromosome 3
            in man
  JOURNAL   Cytogenet Cell Genet 22 (1-6), 219-222 (1978)
   PUBMED   110522
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC112211.2.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_000404.3.
            
            Summary: This gene encodes a member of the glycosyl hydrolase 35
            family of proteins. Alternative splicing results in multiple
            transcript variants, at least one of which encodes a preproprotein
            that is proteolytically processed to generate the mature lysosomal
            enzyme. This enzyme catalyzes the hydrolysis of a terminal
            beta-linked galactose residue from ganglioside substrates and other
            glycoconjugates. Mutations in this gene may result in
            GM1-gangliosidosis and Morquio B syndrome. [provided by RefSeq, Nov
            2015].
            
            Transcript Variant: This variant (1) encodes the predominant
            isoform (a).
            
            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 :: AK223091.1, AK130133.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000307363.10/ ENSP00000306920.4
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-136               AC112211.2         132899-133034       c
            137-306             AC112211.2         108432-108601       c
            307-457             AC112211.2         104708-104858       c
            458-518             AC112211.2         104118-104178       c
            519-613             AC112211.2         101351-101445       c
            614-794             AC112211.2         93977-94157         c
            795-853             AC112211.2         89379-89437         c
            854-975             AC112211.2         87771-87892         c
            976-1016            AC112211.2         87646-87686         c
            1017-1129           AC112211.2         82008-82120         c
            1130-1204           AC112211.2         60139-60213         c
            1205-1294           AC112211.2         57454-57543         c
            1295-1408           AC112211.2         54336-54449         c
            1409-1540           AC112211.2         52597-52728         c
            1541-1795           AC112211.2         49944-50198         c
            1796-2523           AC112211.2         32505-33232         c
FEATURES             Location/Qualifiers
     source          1..2523
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p22.3"
     gene            1..2523
                     /gene="GLB1"
                     /gene_synonym="EBP; ELNR1; MPS4B"
                     /note="galactosidase beta 1"
                     /db_xref="GeneID:2720"
                     /db_xref="HGNC:HGNC:4298"
                     /db_xref="MIM:611458"
     exon            1..136
                     /gene="GLB1"
                     /gene_synonym="EBP; ELNR1; MPS4B"
                     /inference="alignment:Splign:2.1.0"
     CDS             62..2095
                     /gene="GLB1"
                     /gene_synonym="EBP; ELNR1; MPS4B"
                     /EC_number="3.2.1.23"
                     /note="isoform a preproprotein is encoded by transcript
                     variant 1; elastin receptor 1, 67kDa; lactase; acid
                     beta-galactosidase; elastin binding protein"
                     /codon_start=1
                     /product="beta-galactosidase isoform a preproprotein"
                     /protein_id="NP_000395.3"
                     /db_xref="CCDS:CCDS43061.1"
                     /db_xref="GeneID:2720"
                     /db_xref="HGNC:HGNC:4298"
                     /db_xref="MIM:611458"
                     /translation="MPGFLVRILPLLLVLLLLGPTRGLRNATQRMFEIDYSRDSFLKD
                     GQPFRYISGSIHYSRVPRFYWKDRLLKMKMAGLNAIQTYVPWNFHEPWPGQYQFSEDH
                     DVEYFLRLAHELGLLVILRPGPYICAEWEMGGLPAWLLEKESILLRSSDPDYLAAVDK
                     WLGVLLPKMKPLLYQNGGPVITVQVENEYGSYFACDFDYLRFLQKRFRHHLGDDVVLF
                     TTDGAHKTFLKCGALQGLYTTVDFGTGSNITDAFLSQRKCEPKGPLINSEFYTGWLDH
                     WGQPHSTIKTEAVASSLYDILARGASVNLYMFIGGTNFAYWNGANSPYAAQPTSYDYD
                     APLSEAGDLTEKYFALRNIIQKFEKVPEGPIPPSTPKFAYGKVTLEKLKTVGAALDIL
                     CPSGPIKSLYPLTFIQVKQHYGFVLYRTTLPQDCSNPAPLSSPLNGVHDRAYVAVDGI
                     PQGVLERNNVITLNITGKAGATLDLLVENMGRVNYGAYINDFKGLVSNLTLSSNILTD
                     WTIFPLDTEDAVCSHLGGWGHRDSGHHDEAWAHNSSNYTLPAFYMGNFSIPSGIPDLP
                     QDTFIQFPGWTKGQVWINGFNLGRYWPARGPQLTLFVPQHILMTSAPNTITVLELEWA
                     PCSSDDPELCAVTFVDRPVIGSSVTYDHPSKPVEKRLMPPPPQKNKDSWLDHV"
     exon            137..306
                     /gene="GLB1"
                     /gene_synonym="EBP; ELNR1; MPS4B"
                     /inference="alignment:Splign:2.1.0"
     exon            307..457
                     /gene="GLB1"
                     /gene_synonym="EBP; ELNR1; MPS4B"
                     /inference="alignment:Splign:2.1.0"
     exon            458..518
                     /gene="GLB1"
                     /gene_synonym="EBP; ELNR1; MPS4B"
                     /inference="alignment:Splign:2.1.0"
     exon            519..613
                     /gene="GLB1"
                     /gene_synonym="EBP; ELNR1; MPS4B"
                     /inference="alignment:Splign:2.1.0"
     exon            614..794
                     /gene="GLB1"
                     /gene_synonym="EBP; ELNR1; MPS4B"
                     /inference="alignment:Splign:2.1.0"
     exon            795..853
                     /gene="GLB1"
                     /gene_synonym="EBP; ELNR1; MPS4B"
                     /inference="alignment:Splign:2.1.0"
     exon            854..975
                     /gene="GLB1"
                     /gene_synonym="EBP; ELNR1; MPS4B"
                     /inference="alignment:Splign:2.1.0"
     exon            976..1016
                     /gene="GLB1"
                     /gene_synonym="EBP; ELNR1; MPS4B"
                     /inference="alignment:Splign:2.1.0"
     exon            1017..1129
                     /gene="GLB1"
                     /gene_synonym="EBP; ELNR1; MPS4B"
                     /inference="alignment:Splign:2.1.0"
     exon            1130..1204
                     /gene="GLB1"
                     /gene_synonym="EBP; ELNR1; MPS4B"
                     /inference="alignment:Splign:2.1.0"
     exon            1205..1294
                     /gene="GLB1"
                     /gene_synonym="EBP; ELNR1; MPS4B"
                     /inference="alignment:Splign:2.1.0"
     exon            1295..1408
                     /gene="GLB1"
                     /gene_synonym="EBP; ELNR1; MPS4B"
                     /inference="alignment:Splign:2.1.0"
     exon            1409..1540
                     /gene="GLB1"
                     /gene_synonym="EBP; ELNR1; MPS4B"
                     /inference="alignment:Splign:2.1.0"
     exon            1541..1795
                     /gene="GLB1"
                     /gene_synonym="EBP; ELNR1; MPS4B"
                     /inference="alignment:Splign:2.1.0"
     exon            1796..2523
                     /gene="GLB1"
                     /gene_synonym="EBP; ELNR1; MPS4B"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2391..2396
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GLB1"
                     /gene_synonym="EBP; ELNR1; MPS4B"
                     /note="hexamer: AATAAA"
     polyA_site      2409
                     /gene="GLB1"
                     /gene_synonym="EBP; ELNR1; MPS4B"
                     /note="major polyA site"
     regulatory      2489..2494
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GLB1"
                     /gene_synonym="EBP; ELNR1; MPS4B"
                     /note="hexamer: AATAAA"
     polyA_site      2523
                     /gene="GLB1"
                     /gene_synonym="EBP; ELNR1; MPS4B"
ORIGIN      
        1 agtcaagtga cgcgaagcgg ccggcctggg cgccgactgc agagccggga ggctggtggt
       61 catgccgggg ttcctggttc gcatcctccc tctgttgctg gttctgctgc ttctgggccc
      121 tacgcgcggc ttgcgcaatg ccacccagag gatgtttgaa attgactata gccgggactc
      181 cttcctcaag gatggccagc catttcgcta catctcagga agcattcact actcccgtgt
      241 gccccgcttc tactggaagg accggctgct gaagatgaag atggctgggc tgaacgccat
      301 ccagacgtat gtgccctgga actttcatga gccctggcca ggacagtacc agttttctga
      361 ggaccatgat gtggaatatt ttcttcggct ggctcatgag ctgggactgc tggttatcct
      421 gaggcccggg ccctacatct gtgcagagtg ggaaatggga ggattacctg cttggctgct
      481 agagaaagag tctattcttc tccgctcctc cgacccagat tacctggcag ctgtggacaa
      541 gtggttggga gtccttctgc ccaagatgaa gcctctcctc tatcagaatg gagggccagt
      601 tataacagtg caggttgaaa atgaatatgg cagctacttt gcctgtgatt ttgactacct
      661 gcgcttcctg cagaagcgct ttcgccacca tctgggggat gatgtggttc tgtttaccac
      721 tgatggagca cataaaacat tcctgaaatg tggggccctg cagggcctct acaccacggt
      781 ggactttgga acaggcagca acatcacaga tgctttccta agccagagga agtgtgagcc
      841 caaaggaccc ttgatcaatt ctgaattcta tactggctgg ctagatcact ggggccaacc
      901 tcactccaca atcaagaccg aagcagtggc ttcctccctc tatgatatac ttgcccgtgg
      961 ggcgagtgtg aacttgtaca tgtttatagg tgggaccaat tttgcctatt ggaatggggc
     1021 caactcaccc tatgcagcac agcccaccag ctacgactat gatgccccac tgagtgaggc
     1081 tggggacctc actgagaagt attttgctct gcgaaacatc atccagaagt ttgaaaaagt
     1141 accagaaggt cctatccctc catctacacc aaagtttgca tatggaaagg tcactttgga
     1201 aaagttaaag acagtgggag cagctctgga cattctgtgt ccctctgggc ccatcaaaag
     1261 cctttatccc ttgacattta tccaggtgaa acagcattat gggtttgtgc tgtaccggac
     1321 aacacttcct caagattgca gcaacccagc acctctctct tcacccctca atggagtcca
     1381 cgatcgagca tatgttgctg tggatgggat cccccaggga gtccttgagc gaaacaatgt
     1441 gatcactctg aacataacag ggaaagctgg agccactctg gaccttctgg tagagaacat
     1501 gggacgtgtg aactatggtg catatatcaa cgattttaag ggtttggttt ctaacctgac
     1561 tctcagttcc aatatcctca cggactggac gatctttcca ctggacactg aggatgcagt
     1621 gtgcagccac ctggggggct ggggacaccg tgacagtggc caccatgatg aagcctgggc
     1681 ccacaactca tccaactaca cgctcccggc cttttatatg gggaacttct ccattcccag
     1741 tgggatccca gacttgcccc aggacacctt tatccagttt cctggatgga ccaagggcca
     1801 ggtctggatt aatggcttta accttggccg ctattggcca gcccggggcc ctcagttgac
     1861 cttgtttgtg ccccagcaca tcctgatgac ctcggcccca aacaccatca ccgtgctgga
     1921 actggagtgg gcaccctgca gcagtgatga tccagaacta tgtgctgtga cgttcgtgga
     1981 caggccagtt attggctcat ctgtgaccta cgatcatccc tccaaacctg ttgaaaaaag
     2041 actcatgccc ccacccccgc aaaaaaacaa agattcatgg ctggaccatg tatgatgatg
     2101 aaagcctgtg tctttgaggg attctaccct gaacatacct cacagatcct ccctgtcatg
     2161 ccacatttca ctgattggaa tgtggaaatg gaaaaggaat ttaggatgtg cattttcacc
     2221 tgaggtttcc ctgcatccct gcagtgccaa agccccacct tcagggacca cctggaatgt
     2281 gtgaggggct gacagcacag taacgtgcat acatatctgc agggctggaa tggaagcttt
     2341 aaaggtggta gtgattttta ttttggaaga atcatgttac ctttttgtta aataaaattt
     2401 gtactcaaat gatgatgtca ctgtttttaa tgtgcaggta ttgaattata tggtctgact
     2461 taaatcataa ctagacttga gtgggctgaa taaaccactt cactaacttg aagttcaaaa
     2521 gga
//
