LOCUS       NM_000528               3185 bp    mRNA    linear   PRI 08-OCT-2024
DEFINITION  Homo sapiens mannosidase alpha class 2B member 1 (MAN2B1),
            transcript variant 1, mRNA.
ACCESSION   NM_000528
VERSION     NM_000528.4
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 3185)
  AUTHORS   Lehalle,D., Colombo,R., O'Grady,M., Heron,B., Houcinat,N.,
            Kuentz,P., Moutton,S., Sorlin,A., Thevenon,J., Delanne,J., Gay,S.,
            Racine,C., Garde,A., Tran Mau-Them,F., Philippe,C., Vitobello,A.,
            Nambot,S., Huet,F., Duffourd,Y., Feillet,F., Thauvin-Robinet,C.,
            Marlin,S. and Faivre,L.
  TITLE     Hearing impairment as an early sign of alpha-mannosidosis in
            children with a mild phenotype: Report of seven new cases
  JOURNAL   Am J Med Genet A 179 (9), 1756-1763 (2019)
   PUBMED   31241255
  REMARK    GeneRIF: A diagnosis can be established by measuring the activity
            of lysosomal alpha-mannosidase in leucocytes and screening for
            abnormal urinary excretion of mannose-rich oligosaccharides.
            Genetic confirmation is obtained with the identification of MAN2B1
            mutations.
REFERENCE   2  (bases 1 to 3185)
  AUTHORS   Yu,P., Cui,Y., Cai,W., Wu,H., Xiao,X., Shao,Q., Ma,L., Guo,S.,
            Wu,N., Jin,Z.B., Wang,Y., Cai,T., Sun,Z.S. and Qu,J.
  TITLE     Lysosomal storage disease in the brain: mutations of the
            beta-mannosidase gene identified in autosomal dominant nystagmus
  JOURNAL   Genet Med 17 (12), 971-979 (2015)
   PUBMED   25741867
  REMARK    GeneRIF: A novel heterozygous mutation (c.2013G>A; p.R638H) of
            MANBA was identified in patients with autosomal-dominant nystagmus.
            An additional mutation (c.2346T>A; p.L749H) in MANBA was found by
            screening patients with sporadic nystagmus.
REFERENCE   3  (bases 1 to 3185)
  AUTHORS   Borgwardt,L., Stensland,H.M., Olsen,K.J., Wibrand,F., Klenow,H.B.,
            Beck,M., Amraoui,Y., Arash,L., Fogh,J., Nilssen,O., Dali,C.I. and
            Lund,A.M.
  TITLE     Alpha-mannosidosis: correlation between phenotype, genotype and
            mutant MAN2B1 subcellular localisation
  JOURNAL   Orphanet J Rare Dis 10, 70 (2015)
   PUBMED   26048034
  REMARK    GeneRIF: Our results indicate a correlation between the MAN2B1
            genotypes and the cognitive function, upper limb coordination,
            balance, FVC% and the storage of oligosaccharides in CSF.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3185)
  AUTHORS   Thaysen-Andersen,M., Venkatakrishnan,V., Loke,I., Laurini,C.,
            Diestel,S., Parker,B.L. and Packer,N.H.
  TITLE     Human neutrophils secrete bioactive paucimannosidic proteins from
            azurophilic granules into pathogen-infected sputum
  JOURNAL   J Biol Chem 290 (14), 8789-8802 (2015)
   PUBMED   25645918
REFERENCE   5  (bases 1 to 3185)
  AUTHORS   Manichaikul,A., Hoffman,E.A., Smolonska,J., Gao,W., Cho,M.H.,
            Baumhauer,H., Budoff,M., Austin,J.H., Washko,G.R., Carr,J.J.,
            Kaufman,J.D., Pottinger,T., Powell,C.A., Wijmenga,C., Zanen,P.,
            Groen,H.J., Postma,D.S., Wanner,A., Rouhani,F.N., Brantly,M.L.,
            Powell,R., Smith,B.M., Rabinowitz,D., Raffel,L.J., Hinckley
            Stukovsky,K.D., Crapo,J.D., Beaty,T.H., Hokanson,J.E.,
            Silverman,E.K., Dupuis,J., O'Connor,G.T., Boezen,H.M., Rich,S.S.
            and Barr,R.G.
  TITLE     Genome-wide study of percent emphysema on computed tomography in
            the general population. The Multi-Ethnic Study of Atherosclerosis
            Lung/SNP Health Association Resource Study
  JOURNAL   Am J Respir Crit Care Med 189 (4), 408-418 (2014)
   PUBMED   24383474
REFERENCE   6  (bases 1 to 3185)
  AUTHORS   Emiliani,C., Martino,S., Stirling,J.L., Maras,B. and Orlacchio,A.
  TITLE     Partial sequence of the purified protein confirms the identity of
            cDNA coding for human lysosomal alpha-mannosidase B
  JOURNAL   Biochem J 305 (Pt 2) (Pt 2), 363-366 (1995)
   PUBMED   7832746
REFERENCE   7  (bases 1 to 3185)
  AUTHORS   Ficicioglu,C. and Stepien,K.M.
  TITLE     Alpha-Mannosidosis
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301570
REFERENCE   8  (bases 1 to 3185)
  AUTHORS   Kaneda,Y., Hayes,H., Uchida,T., Yoshida,M.C. and Okada,Y.
  TITLE     Regional assignment of five genes on human chromosome 19
  JOURNAL   Chromosoma 95 (1), 8-12 (1987)
   PUBMED   3034518
REFERENCE   9  (bases 1 to 3185)
  AUTHORS   Champion,M.J. and Shows,T.B.
  TITLE     Electrophoretic abnormalities of lysosomal enzymes in mucolipidosis
            fibroblast lines
  JOURNAL   Am J Hum Genet 29 (2), 149-163 (1977)
   PUBMED   848490
REFERENCE   10 (bases 1 to 3185)
  AUTHORS   Phillips,N.C., Robinson,D. and Winchester,B.G.
  TITLE     Characterization of human liver alpha-D-mannosidase purified by
            affinity chromatography
  JOURNAL   Biochem J 153 (3), 579-587 (1976)
   PUBMED   821469
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB237901.1 and BC000736.2.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_000528.3.
            
            Summary: This gene encodes an enzyme that hydrolyzes terminal,
            non-reducing alpha-D-mannose residues in alpha-D-mannosides. Its
            activity is necessary for the catabolism of N-linked carbohydrates
            released during glycoprotein turnover and it is member of family 38
            of glycosyl hydrolases. The full length protein is processed in two
            steps. First, a 49 aa leader sequence is cleaved off and the
            remainder of the protein is processed into 3 peptides of 70 kDa, 42
            kDa (D) and 13/15 kDa (E). Next, the 70 kDa peptide is further
            processed into three peptides (A, B and C). The A, B and C peptides
            are disulfide-linked. Defects in this gene have been associated
            with lysosomal alpha-mannosidosis. Alternatively spliced transcript
            variants encoding different isoforms have been found for this
            gene.[provided by RefSeq, Mar 2010].
            
            Transcript Variant: This variant (1) encodes the longer 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 :: AK291572.1, SRR1803612.260285.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000456935.7/ ENSP00000395473.2
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-19                DB237901.1         36-54
            20-3185             BC000736.2         1-3166
FEATURES             Location/Qualifiers
     source          1..3185
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p13.13"
     gene            1..3185
                     /gene="MAN2B1"
                     /gene_synonym="LAMAN; MANB"
                     /note="mannosidase alpha class 2B member 1"
                     /db_xref="GeneID:4125"
                     /db_xref="HGNC:HGNC:6826"
                     /db_xref="MIM:609458"
     exon            1..200
                     /gene="MAN2B1"
                     /gene_synonym="LAMAN; MANB"
                     /inference="alignment:Splign:2.1.0"
     CDS             42..3077
                     /gene="MAN2B1"
                     /gene_synonym="LAMAN; MANB"
                     /EC_number="3.2.1.24"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1; mannosidase, alpha B, lysosomal; lysosomal acid
                     alpha-mannosidase; lysosomal alpha-mannosidase;
                     mannosidase alpha-B"
                     /codon_start=1
                     /product="lysosomal alpha-mannosidase isoform 1 precursor"
                     /protein_id="NP_000519.2"
                     /db_xref="CCDS:CCDS32919.1"
                     /db_xref="GeneID:4125"
                     /db_xref="HGNC:HGNC:6826"
                     /db_xref="MIM:609458"
                     /translation="MGAYARASGVCARGCLDSAGPWTMSRALRPPLPPLCFFLLLLAA
                     AGARAGGYETCPTVQPNMLNVHLLPHTHDDVGWLKTVDQYFYGIKNDIQHAGVQYILD
                     SVISALLADPTRRFIYVEIAFFSRWWHQQTNATQEVVRDLVRQGRLEFANGGWVMNDE
                     AATHYGAIVDQMTLGLRFLEDTFGNDGRPRVAWHIDPFGHSREQASLFAQMGFDGFFF
                     GRLDYQDKWVRMQKLEMEQVWRASTSLKPPTADLFTGVLPNGYNPPRNLCWDVLCVDQ
                     PLVEDPRSPEYNAKELVDYFLNVATAQGRYYRTNHTVMTMGSDFQYENANMWFKNLDK
                     LIRLVNAQQAKGSSVHVLYSTPACYLWELNKANLTWSVKHDDFFPYADGPHQFWTGYF
                     SSRPALKRYERLSYNFLQVCNQLEALVGLAANVGPYGSGDSAPLNEAMAVLQHHDAVS
                     GTSRQHVANDYARQLAAGWGPCEVLLSNALARLRGFKDHFTFCQQLNISICPLSQTAA
                     RFQVIVYNPLGRKVNWMVRLPVSEGVFVVKDPNGRTVPSDVVIFPSSDSQAHPPELLF
                     SASLPALGFSTYSVAQVPRWKPQARAPQPIPRRSWSPALTIENEHIRATFDPDTGLLM
                     EIMNMNQQLLLPVRQTFFWYNASIGDNESDQASGAYIFRPNQQKPLPVSRWAQIHLVK
                     TPLVQEVHQNFSAWCSQVVRLYPGQRHLELEWSVGPIPVGDTWGKEVISRFDTPLETK
                     GRFYTDSNGREILERRRDYRPTWKLNQTEPVAGNYYPVNTRIYITDGNMQLTVLTDRS
                     QGGSSLRDGSLELMVHRRLLKDDGRGVSEPLMENGSGAWVRGRHLVLLDTAQAAAAGH
                     RLLAEQEVLAPQVVLAPGGGAAYNLGAPPRTQFSGLRRDLPPSVHLLTLASWGPEMVL
                     LRLEHQFAVGEDSGRNLSAPVTLNLRDLFSTFTITRLQETTLVANQLREAASRLKWTT
                     NTGPTPHQTPYQLDPANITLEPMEIRTFLASVQWKEVDG"
     exon            201..303
                     /gene="MAN2B1"
                     /gene_synonym="LAMAN; MANB"
                     /inference="alignment:Splign:2.1.0"
     exon            304..477
                     /gene="MAN2B1"
                     /gene_synonym="LAMAN; MANB"
                     /inference="alignment:Splign:2.1.0"
     exon            478..671
                     /gene="MAN2B1"
                     /gene_synonym="LAMAN; MANB"
                     /inference="alignment:Splign:2.1.0"
     exon            672..804
                     /gene="MAN2B1"
                     /gene_synonym="LAMAN; MANB"
                     /inference="alignment:Splign:2.1.0"
     exon            805..950
                     /gene="MAN2B1"
                     /gene_synonym="LAMAN; MANB"
                     /inference="alignment:Splign:2.1.0"
     exon            951..1067
                     /gene="MAN2B1"
                     /gene_synonym="LAMAN; MANB"
                     /inference="alignment:Splign:2.1.0"
     exon            1068..1150
                     /gene="MAN2B1"
                     /gene_synonym="LAMAN; MANB"
                     /inference="alignment:Splign:2.1.0"
     exon            1151..1271
                     /gene="MAN2B1"
                     /gene_synonym="LAMAN; MANB"
                     /inference="alignment:Splign:2.1.0"
     exon            1272..1350
                     /gene="MAN2B1"
                     /gene_synonym="LAMAN; MANB"
                     /inference="alignment:Splign:2.1.0"
     exon            1351..1460
                     /gene="MAN2B1"
                     /gene_synonym="LAMAN; MANB"
                     /inference="alignment:Splign:2.1.0"
     exon            1461..1568
                     /gene="MAN2B1"
                     /gene_synonym="LAMAN; MANB"
                     /inference="alignment:Splign:2.1.0"
     exon            1569..1685
                     /gene="MAN2B1"
                     /gene_synonym="LAMAN; MANB"
                     /inference="alignment:Splign:2.1.0"
     exon            1686..1871
                     /gene="MAN2B1"
                     /gene_synonym="LAMAN; MANB"
                     /inference="alignment:Splign:2.1.0"
     exon            1872..1969
                     /gene="MAN2B1"
                     /gene_synonym="LAMAN; MANB"
                     /inference="alignment:Splign:2.1.0"
     exon            1970..2087
                     /gene="MAN2B1"
                     /gene_synonym="LAMAN; MANB"
                     /inference="alignment:Splign:2.1.0"
     exon            2088..2206
                     /gene="MAN2B1"
                     /gene_synonym="LAMAN; MANB"
                     /inference="alignment:Splign:2.1.0"
     exon            2207..2308
                     /gene="MAN2B1"
                     /gene_synonym="LAMAN; MANB"
                     /inference="alignment:Splign:2.1.0"
     exon            2309..2396
                     /gene="MAN2B1"
                     /gene_synonym="LAMAN; MANB"
                     /inference="alignment:Splign:2.1.0"
     exon            2397..2477
                     /gene="MAN2B1"
                     /gene_synonym="LAMAN; MANB"
                     /inference="alignment:Splign:2.1.0"
     exon            2478..2705
                     /gene="MAN2B1"
                     /gene_synonym="LAMAN; MANB"
                     /inference="alignment:Splign:2.1.0"
     exon            2706..2861
                     /gene="MAN2B1"
                     /gene_synonym="LAMAN; MANB"
                     /inference="alignment:Splign:2.1.0"
     exon            2862..2964
                     /gene="MAN2B1"
                     /gene_synonym="LAMAN; MANB"
                     /inference="alignment:Splign:2.1.0"
     exon            2965..3185
                     /gene="MAN2B1"
                     /gene_synonym="LAMAN; MANB"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3161..3166
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MAN2B1"
                     /gene_synonym="LAMAN; MANB"
                     /note="hexamer: ATTAAA"
     polyA_site      3185
                     /gene="MAN2B1"
                     /gene_synonym="LAMAN; MANB"
                     /note="major polyA site"
ORIGIN      
        1 ctttccaggg ccggggaacc ccaggaggaa gctgctgagc catgggcgcc tacgcgcggg
       61 cttcgggggt ctgcgctcgc ggctgcctgg actcagcagg cccctggacc atgtcccgcg
      121 ccctgcggcc accgctcccg cctctctgct ttttcctttt gttgctggcg gctgccggtg
      181 ctcgggccgg gggatacgag acatgcccca cagtgcagcc gaacatgctg aacgtgcacc
      241 tgctgcctca cacacatgat gacgtgggct ggctcaaaac cgtggaccag tacttttatg
      301 gaatcaagaa tgacatccag cacgccggtg tgcagtacat cctggactcg gtcatctctg
      361 ccttgctggc agatcccacc cgtcgcttca tttacgtgga gattgccttc ttctcccgtt
      421 ggtggcacca gcagacaaat gccacacagg aagtcgtgcg agaccttgtg cgccaggggc
      481 gcctggagtt cgccaatggt ggctgggtga tgaacgatga ggcagccacc cactacggtg
      541 ccatcgtgga ccagatgaca cttgggctgc gctttctgga ggacacattt ggcaatgatg
      601 ggcgaccccg tgtggcctgg cacattgacc ccttcggcca ctctcgggag caggcctcgc
      661 tgtttgcgca gatgggcttc gacggcttct tctttgggcg ccttgattat caagataagt
      721 gggtacggat gcagaagctg gagatggagc aggtgtggcg ggccagcacc agcctgaagc
      781 ccccgaccgc ggacctcttc actggtgtgc ttcccaatgg ttacaacccg ccaaggaatc
      841 tgtgctggga tgtgctgtgt gtcgatcagc cgctggtgga ggaccctcgc agccccgagt
      901 acaacgccaa ggagctggtc gattacttcc taaatgtggc cactgcccag ggccggtatt
      961 accgcaccaa ccacactgtg atgaccatgg gctcggactt ccaatatgag aatgccaaca
     1021 tgtggttcaa gaaccttgac aagctcatcc ggctggtaaa tgcgcagcag gcaaaaggaa
     1081 gcagtgtcca tgttctctac tccacccccg cttgttacct ctgggagctg aacaaggcca
     1141 acctcacctg gtcagtgaaa catgacgact tcttccctta cgcggatggc ccccaccagt
     1201 tctggaccgg ttacttttcc agtcggccgg ccctcaaacg ctacgagcgc ctcagctaca
     1261 acttcctgca ggtgtgcaac cagctggagg cgctggtggg cctggcggcc aacgtgggac
     1321 cctatggctc cggagacagt gcacccctca atgaggcgat ggctgtgctc cagcatcacg
     1381 acgccgtcag cggcacctcc cgccagcacg tggccaacga ctacgcgcgc cagcttgcgg
     1441 caggctgggg gccttgcgag gttcttctga gcaacgcgct ggcgcggctc agaggcttca
     1501 aagatcactt caccttttgc caacagctaa acatcagcat ctgcccgctc agccagacgg
     1561 cggcgcgctt ccaggtcatc gtttataatc ccctggggcg gaaggtgaat tggatggtac
     1621 ggctgccggt cagcgaaggc gttttcgttg tgaaggaccc caatggcagg acagtgccca
     1681 gcgatgtggt aatatttccc agctcagaca gccaggcgca ccctccggag ctgctgttct
     1741 cagcctcact gcccgccctg ggcttcagca cctattcagt agcccaggtg cctcgctgga
     1801 agccccaggc ccgcgcacca cagcccatcc ccagaagatc ctggtcccct gctttaacca
     1861 tcgaaaatga gcacatccgg gcaacgtttg atcctgacac agggctgttg atggagatta
     1921 tgaacatgaa tcagcaactc ctgctgcctg ttcgccagac cttcttctgg tacaacgcca
     1981 gtataggtga caacgaaagt gaccaggcct caggtgccta catcttcaga cccaaccaac
     2041 agaaaccgct gcctgtgagc cgctgggctc agatccacct ggtgaagaca cccttggtgc
     2101 aggaggtgca ccagaacttc tcagcttggt gttcccaggt ggttcgcctg tacccaggac
     2161 agcggcacct ggagctagag tggtcggtgg ggccgatacc tgtgggcgac acctggggga
     2221 aggaggtcat cagccgtttt gacacaccgc tggagacaaa gggacgcttc tacacagaca
     2281 gcaatggccg ggagatcctg gagaggaggc gggattatcg acccacctgg aaactgaacc
     2341 agacggagcc cgtggcagga aactactatc cagtcaacac ccggatttac atcacggatg
     2401 gaaacatgca gctgactgtg ctgactgacc gctcccaggg gggcagcagc ctgagagatg
     2461 gctcgctgga gctcatggtg caccgaaggc tgctgaagga cgatggacgc ggagtatcgg
     2521 agccactaat ggagaacggg tcgggggcgt gggtgcgagg gcgccacctg gtgctgctgg
     2581 acacagccca ggctgcagcc gccggacacc ggctcctggc ggagcaggag gtcctggccc
     2641 ctcaggtggt gctggccccg ggtggcggcg ccgcctacaa tctcggggct cctccgcgca
     2701 cgcagttctc agggctgcgc agggacctgc cgccctcggt gcacctgctc acgctggcca
     2761 gctggggccc cgaaatggtg ctgctgcgct tggagcacca gtttgccgta ggagaggatt
     2821 ccggacgtaa cctgagcgcc cccgttacct tgaacttgag ggacctgttc tccaccttca
     2881 ccatcacccg cctgcaggag accacgctgg tggccaacca gctccgcgag gcagcctcca
     2941 ggctcaagtg gacaacaaac acaggcccca caccccacca aactccgtac cagctggacc
     3001 cggccaacat cacgctggaa cccatggaaa tccgcacttt cctggcctca gttcaatgga
     3061 aggaggtgga tggttaggtc tgctgggatg ggccctccaa gcccaagcct cctgctccgg
     3121 gggcagacca gactctgact ctcctcttgg ggctgctgcc attaaaacgc tactactaag
     3181 actca
//
