LOCUS       NM_005908               4001 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens mannosidase beta (MANBA), mRNA.
ACCESSION   NM_005908
VERSION     NM_005908.4
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 4001)
  AUTHORS   Chen,X., Yao,T., Cai,J., Zhang,Q., Li,S., Li,H., Fu,X. and Wu,J.
  TITLE     A novel genetic variant potentially altering the expression of
            MANBA in the cerebellum associated with attention deficit
            hyperactivity disorder in Han Chinese children
  JOURNAL   World J Biol Psychiatry 23 (7), 548-559 (2022)
   PUBMED   34870556
  REMARK    GeneRIF: A novel genetic variant potentially altering the
            expression of MANBA in the cerebellum associated with attention
            deficit hyperactivity disorder in Han Chinese children.
REFERENCE   2  (bases 1 to 4001)
  AUTHORS   Gonzalez-Jimenez,A., Lopez-Cotarelo,P., Agudo-Jimenez,T.,
            Casanova,I., Silanes,C.L., Martin-Requero,A., Matesanz,F.,
            Urcelay,E. and Espino-Paisan,L.
  TITLE     Impact of Multiple Sclerosis Risk Polymorphism rs7665090 on MANBA
            Activity, Lysosomal Endocytosis, and Lymphocyte Activation
  JOURNAL   Int J Mol Sci 23 (15), 8116 (2022)
   PUBMED   35897697
  REMARK    GeneRIF: Impact of Multiple Sclerosis Risk Polymorphism rs7665090
            on MANBA Activity, Lysosomal Endocytosis, and Lymphocyte
            Activation.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 4001)
  AUTHORS   Gu,X., Yang,H., Sheng,X., Ko,Y.A., Qiu,C., Park,J., Huang,S.,
            Kember,R., Judy,R.L., Park,J., Damrauer,S.M., Nadkarni,G.,
            Loos,R.J.F., My,V.T.H., Chaudhary,K., Bottinger,E.P., Paranjpe,I.,
            Saha,A., Brown,C., Akilesh,S., Hung,A.M., Palmer,M., Baras,A.,
            Overton,J.D., Reid,J., Ritchie,M., Rader,D.J. and Susztak,K.
  TITLE     Kidney disease genetic risk variants alter lysosomal
            beta-mannosidase (MANBA) expression and disease severity
  JOURNAL   Sci Transl Med 13 (576) (2021)
   PUBMED   33441424
  REMARK    GeneRIF: Kidney disease genetic risk variants alter lysosomal
            beta-mannosidase (MANBA) expression and disease severity.
REFERENCE   4  (bases 1 to 4001)
  AUTHORS   Gytz,H., Liang,J., Liang,Y., Gorelik,A., Illes,K. and Nagar,B.
  TITLE     The structure of mammalian beta-mannosidase provides insight into
            beta-mannosidosis and nystagmus
  JOURNAL   FEBS J 286 (7), 1319-1331 (2019)
   PUBMED   30552791
REFERENCE   5  (bases 1 to 4001)
  AUTHORS   Hitomi,Y., Nakatani,K., Kojima,K., Nishida,N., Kawai,Y.,
            Kawashima,M., Aiba,Y., Nagasaki,M., Nakamura,M. and Tokunaga,K.
  TITLE     NFKB1 and MANBA Confer Disease Susceptibility to Primary Biliary
            Cholangitis via Independent Putative Primary Functional Variants
  JOURNAL   Cell Mol Gastroenterol Hepatol 7 (3), 515-532 (2019)
   PUBMED   30528300
  REMARK    GeneRIF: independent putative primary functional variants in
            NFKB1/MANBA and showed the distinct molecular mechanism by which
            each putative primary functional variant conferred susceptibility
            to Primary biliary cholangitis, were identified.
REFERENCE   6  (bases 1 to 4001)
  AUTHORS   Sabourdy,F., Labauge,P., Stensland,H.M., Nieto,M., Garces,V.L.,
            Renard,D., Castelnovo,G., de Champfleur,N. and Levade,T.
  TITLE     A MANBA mutation resulting in residual beta-mannosidase activity
            associated with severe leukoencephalopathy: a possible
            pseudodeficiency variant
  JOURNAL   BMC Med Genet 10, 84 (2009)
   PUBMED   19728872
  REMARK    GeneRIF: The present analysis of the c.1922G>A MANBA mutation
            underlines the lack of genotype-phenotype correlation in
            beta-mannosidosis
            Publication Status: Online-Only
REFERENCE   7  (bases 1 to 4001)
  AUTHORS   Gao,J., Arbman,G., He,L., Qiao,F., Zhang,Z., Zhao,Z., Rosell,J. and
            Sun,X.F.
  TITLE     MANBA polymorphism was related to increased risk of colorectal
            cancer in Swedish but not in Chinese populations
  JOURNAL   Acta Oncol 47 (3), 372-378 (2008)
   PUBMED   17899454
  REMARK    GeneRIF: The MANBA genotypes for a polymorphic CA repeat were
            related to colorectal cancer risk in a Swedish population but not a
            Chinese one. In the Swedish population, individuals with < 22 CAs/<
            22 CAs had a significantly increased risk for CRC.
            GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   8  (bases 1 to 4001)
  AUTHORS   Alkhayat,A.H., Kraemer,S.A., Leipprandt,J.R., Macek,M.,
            Kleijer,W.J. and Friderici,K.H.
  TITLE     Human beta-mannosidase cDNA characterization and first
            identification of a mutation associated with human
            beta-mannosidosis
  JOURNAL   Hum Mol Genet 7 (1), 75-83 (1998)
   PUBMED   9384606
REFERENCE   9  (bases 1 to 4001)
  AUTHORS   Chen,H., Leipprandt,J.R., Traviss,C.E., Sopher,B.L., Jones,M.Z.,
            Cavanagh,K.T. and Friderici,K.H.
  TITLE     Molecular cloning and characterization of bovine beta-mannosidase
  JOURNAL   J Biol Chem 270 (8), 3841-3848 (1995)
   PUBMED   7876128
REFERENCE   10 (bases 1 to 4001)
  AUTHORS   Levade,T., Graber,D., Flurin,V., Delisle,M.B., Pieraggi,M.T.,
            Testut,M.F., Carriere,J.P. and Salvayre,R.
  TITLE     Human beta-mannosidase deficiency associated with peripheral
            neuropathy
  JOURNAL   Ann Neurol 35 (1), 116-119 (1994)
   PUBMED   8285582
  REMARK    Review article
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC015743.1, AF213884.2 and
            AI079197.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_005908.3.
            
            Summary: This gene encodes a member of the glycosyl hydrolase 2
            family. The encoded protein localizes to the lysosome where it is
            the final exoglycosidase in the pathway for N-linked glycoprotein
            oligosaccharide catabolism. Mutations in this gene are associated
            with beta-mannosidosis, a lysosomal storage disease that has a wide
            spectrum of neurological involvement. [provided by RefSeq, Jul
            2008].
            
            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 :: U60337.1, BC015743.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000647097.2/ ENSP00000495247.1
            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
            1-2175              BC015743.1         17-2191
            2176-2231           AF213884.2         200609-200664       c
            2232-2489           AF213884.2         199532-199789       c
            2490-3224           AF213884.2         196291-197025       c
            3225-3285           AI079197.1         1-61                c
            3286-4001           AF213884.2         195514-196229       c
FEATURES             Location/Qualifiers
     source          1..4001
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q24"
     gene            1..4001
                     /gene="MANBA"
                     /gene_synonym="MANB1"
                     /note="mannosidase beta"
                     /db_xref="GeneID:4126"
                     /db_xref="HGNC:HGNC:6831"
                     /db_xref="MIM:609489"
     exon            1..251
                     /gene="MANBA"
                     /gene_synonym="MANB1"
                     /inference="alignment:Splign:2.1.0"
     CDS             75..2714
                     /gene="MANBA"
                     /gene_synonym="MANB1"
                     /EC_number="3.2.1.25"
                     /note="mannase; mannanase; lysosomal beta A mannosidase;
                     mannosidase, beta A, lysosomal; beta-mannosidase A"
                     /codon_start=1
                     /product="beta-mannosidase precursor"
                     /protein_id="NP_005899.3"
                     /db_xref="CCDS:CCDS3658.1"
                     /db_xref="GeneID:4126"
                     /db_xref="HGNC:HGNC:6831"
                     /db_xref="MIM:609489"
                     /translation="MRLHLLLLLALCGAGTTAAELSYSLRGNWSICNGNGSLELPGAV
                     PGCVHSALFQQGLIQDSYYRFNDLNYRWVSLDNWTYSKEFKIPFEISKWQKVNLILEG
                     VDTVSKILFNEVTIGETDNMFNRYSFDITNVVRDVNSIELRFQSAVLYAAQQSKAHTR
                     YQVPPDCPPLVQKGECHVNFVRKEQCSFSWDWGPSFPTQGIWKDVRIEAYNICHLNYF
                     TFSPIYDKSAQEWNLEIESTFDVVSSKPVGGQVIVAIPKLQTQQTYSIELQPGKRIVE
                     LFVNISKNITVETWWPHGHGNQTGYNMTVLFELDGGLNIEKSAKVYFRTVELIEEPIK
                     GSPGLSFYFKINGFPIFLKGSNWIPADSFQDRVTSELLRLLLQSVVDANMNTLRVWGG
                     GIYEQDEFYELCDELGIMVWQDFMFACALYPTDQGFLDSVTAEVAYQIKRLKSHPSII
                     IWSGNNENEEALMMNWYHISFTDRPIYIKDYVTLYVKNIRELVLAGDKSRPFITSSPT
                     NGAETVAEAWVSQNPNSNYFGDVHFYDYISDCWNWKVFPKARFASEYGYQSWPSFSTL
                     EKVSSTEDWSFNSKFSLHRQHHEGGNKQMLYQAGLHFKLPQSTDPLRTFKDTIYLTQV
                     MQAQCVKTETEFYRRSRSEIVDQQGHTMGALYWQLNDIWQAPSWASLEYGGKWKMLHY
                     FAQNFFAPLLPVGFENENTFYIYGVSDLHSDYSMTLSVRVHTWSSLEPVCSRVTERFV
                     MKGGEAVCLYEEPVSELLRRCGNCTRESCVVSFYLSADHELLSPTNYHFLSSPKEAVG
                     LCKAQITAIISQQGDIFVFDLETSAVAPFVWLDVGSIPGRFSDNGFLMTEKTRTILFY
                     PWEPTSKNELEQSFHVTSLTDIY"
     exon            252..346
                     /gene="MANBA"
                     /gene_synonym="MANB1"
                     /inference="alignment:Splign:2.1.0"
     exon            347..452
                     /gene="MANBA"
                     /gene_synonym="MANB1"
                     /inference="alignment:Splign:2.1.0"
     exon            453..623
                     /gene="MANBA"
                     /gene_synonym="MANB1"
                     /inference="alignment:Splign:2.1.0"
     exon            624..747
                     /gene="MANBA"
                     /gene_synonym="MANB1"
                     /inference="alignment:Splign:2.1.0"
     exon            748..923
                     /gene="MANBA"
                     /gene_synonym="MANB1"
                     /inference="alignment:Splign:2.1.0"
     exon            924..1034
                     /gene="MANBA"
                     /gene_synonym="MANB1"
                     /inference="alignment:Splign:2.1.0"
     exon            1035..1186
                     /gene="MANBA"
                     /gene_synonym="MANB1"
                     /inference="alignment:Splign:2.1.0"
     exon            1187..1304
                     /gene="MANBA"
                     /gene_synonym="MANB1"
                     /inference="alignment:Splign:2.1.0"
     exon            1305..1391
                     /gene="MANBA"
                     /gene_synonym="MANB1"
                     /inference="alignment:Splign:2.1.0"
     exon            1392..1559
                     /gene="MANBA"
                     /gene_synonym="MANB1"
                     /inference="alignment:Splign:2.1.0"
     exon            1560..1778
                     /gene="MANBA"
                     /gene_synonym="MANB1"
                     /inference="alignment:Splign:2.1.0"
     exon            1779..1943
                     /gene="MANBA"
                     /gene_synonym="MANB1"
                     /inference="alignment:Splign:2.1.0"
     exon            1944..2088
                     /gene="MANBA"
                     /gene_synonym="MANB1"
                     /inference="alignment:Splign:2.1.0"
     exon            2089..2231
                     /gene="MANBA"
                     /gene_synonym="MANB1"
                     /inference="alignment:Splign:2.1.0"
     exon            2232..2489
                     /gene="MANBA"
                     /gene_synonym="MANB1"
                     /inference="alignment:Splign:2.1.0"
     exon            2490..4001
                     /gene="MANBA"
                     /gene_synonym="MANB1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3250..3255
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MANBA"
                     /gene_synonym="MANB1"
                     /note="hexamer: AATAAA"
     regulatory      3261..3266
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MANBA"
                     /gene_synonym="MANB1"
                     /note="hexamer: TATAAA"
     polyA_site      3275
                     /gene="MANBA"
                     /gene_synonym="MANB1"
                     /note="major polyA site"
     polyA_site      3278
                     /gene="MANBA"
                     /gene_synonym="MANB1"
                     /note="major polyA site"
     regulatory      3313..3318
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MANBA"
                     /gene_synonym="MANB1"
                     /note="hexamer: TATAAA"
     polyA_site      3335
                     /gene="MANBA"
                     /gene_synonym="MANB1"
ORIGIN      
        1 gagtggcttc accgccggtc ccttgcagcg ctgcctttcg atctctccac atctcggtgg
       61 cgcgggatct caagatgcgc ctccacctgc tcctgctgct cgcgctgtgc ggtgcaggca
      121 ccaccgccgc ggagctcagt tacagcttgc gtggcaactg gagcatctgc aatgggaacg
      181 gctcgctgga gctgcccggg gcggtccctg gctgcgtgca cagcgccttg ttccagcagg
      241 gcctgatcca ggattcttac tacagattta atgaccttaa ctacagatgg gtctctttgg
      301 ataactggac ctatagcaaa gaatttaaaa tcccctttga aattagcaaa tggcaaaaag
      361 taaatttgat tcttgaggga gtggatacgg tttcaaaaat cctgttcaat gaagtcacta
      421 ttggggaaac agacaatatg ttcaatagat atagctttga tattaccaac gtggtcaggg
      481 acgtgaactc cattgagctg cgtttccagt cagcggtgtt gtatgcagca cagcagagca
      541 aagctcacac tcgctaccag gttcccccag actgccctcc acttgtgcag aagggtgaat
      601 gccatgtcaa ctttgttcgg aaggagcaat gttcctttag ttgggactgg gggccttcct
      661 ttcctaccca gggaatctgg aaagatgtta gaattgaagc ctataatatt tgtcacctga
      721 actacttcac attttcccca atatatgata agagtgccca ggagtggaat ctggaaatag
      781 agtctacatt tgatgttgtc agctcaaagc cagttggtgg tcaagtgatc gtagccatcc
      841 ctaagttgca aacacaacag acatacagca ttgaacttca acctgggaaa aggattgttg
      901 agctatttgt gaacattagc aagaatatta ctgtagaaac ttggtggcct catggacatg
      961 gaaaccagac tgggtacaac atgactgttc tttttgaact ggatggaggc ttaaatattg
     1021 aaaaatcagc taaggtttat tttaggacag tggaacttat agaagagcct ataaaagggt
     1081 ctcctggttt gagtttctat ttcaaaatta atggatttcc catatttcta aaaggctcaa
     1141 actggatccc agcagattca ttccaggacc gagtaacctc tgagttgtta cggctccttt
     1201 tacagtctgt tgtggatgct aatatgaata ctcttcgggt ttggggagga ggaatttatg
     1261 agcaggatga attctatgaa ctctgtgatg aactaggaat aatggtatgg caggatttta
     1321 tgtttgcctg tgccctttat ccaactgatc agggcttcct ggattcagtg acagcagaag
     1381 ttgcctacca gatcaagaga ctgaaatctc atccttctat catcatatgg agtggcaata
     1441 atgaaaatga ggaggcgctg atgatgaatt ggtatcatat cagtttcact gaccggccaa
     1501 tctacatcaa ggactatgtg acactctatg tgaaaaacat cagagagctc gtactggcag
     1561 gagacaagag tcgtcctttt attacgtcca gtcctacaaa tggggctgaa actgttgcag
     1621 aagcctgggt ctctcaaaac cctaatagca attattttgg tgatgtacat ttttatgact
     1681 atatcagtga ttgctggaac tggaaagttt tcccaaaagc tcgatttgca tctgaatatg
     1741 gatatcagtc ctggccgtcc ttcagtacat tagaaaaggt ctcgtctaca gaggactggt
     1801 ctttcaatag caagttttca cttcatcgac aacatcacga aggtggtaac aaacaaatgc
     1861 tttatcaggc tggacttcat ttcaaactcc cccaaagcac agatccatta cgcacattta
     1921 aagataccat ctaccttact caggtgatgc aggcccagtg tgtcaaaaca gaaactgaat
     1981 tctaccgccg tagtcgcagc gagatagtgg atcagcaagg gcacacgatg ggggcacttt
     2041 attggcagtt gaatgacatc tggcaagctc cttcctgggc ttctcttgag tacggaggaa
     2101 agtggaaaat gcttcattac tttgctcaga atttctttgc tccactgttg ccagtaggct
     2161 ttgagaatga aaacacgttc tatatctatg gtgtgtcaga tcttcactcg gattattcga
     2221 tgacactcag tgtgagagtc catacatgga gctccctgga gcccgtgtgc tctcgtgtga
     2281 ctgaacgttt tgtgatgaaa ggaggagagg ctgtctgcct ttatgaggag ccagtgtctg
     2341 aattgctgag gagatgtggg aattgcacac gggaaagctg tgtggtttcc ttttaccttt
     2401 cagctgacca tgaactcctg agcccgacca actaccactt cttgtcctca ccgaaggagg
     2461 ccgtggggct ctgcaaggcg cagatcactg ccatcatctc tcagcaaggt gacatatttg
     2521 tttttgacct ggagacctca gctgtcgctc cctttgtttg gttggatgta ggaagcatcc
     2581 cagggagatt tagtgacaat ggtttcctca tgactgagaa gacacgaact atattatttt
     2641 acccttggga gcccaccagc aagaatgagt tggagcaatc ttttcatgtg acctccttaa
     2701 cagatattta ctgaaggaat ctaggttgta ttttcagtgg acaatgggaa taaagcattt
     2761 ctaaagcacc gactggagag gaaggcaaca gagacaagga gagaagccga gagacatgtc
     2821 tgcgtgctgc cacgcatttg agcgattgct ctgtgaagag ttgtacactg aacactttca
     2881 ggggaggctg tttacccagg caatgtcctc aaacaagcct gtgccggggt gtcctggaat
     2941 ctgtgccagg actgtgtttt tagcccttca cctctcagct ttagcaggac atgaaccagt
     3001 tataacaaga tggccctgca gctggttaca agaatgtgac atggcaggat ctatggaacc
     3061 aaatggaagg ttttgaggtg atgtaggtct ttcacagcta gctttgggga atacggaata
     3121 ctcaaataaa gtgctttgtt attatttcag agggaatggc gattgaaatg ttacaacaga
     3181 gatttcttgg tggtagctat ttgggtaaag gtatatgggt atttttctgt acatgtgaaa
     3241 ttatataaaa ataaaagtta tataaattac attgacaact tgatatttca tctgtggctt
     3301 atttaaccgt tctataaata ttcaattttg cccaatactg tgctggaccc taatttccat
     3361 ttagttctcg ttattattct gcttggtaaa ctgggagagt ttgaagaatc taaactaaga
     3421 catgtgaaag gttttctctg gaaacagtca tgtaattggt tatagaatgg accagcaaag
     3481 agtgtttggc tttaaaatta agatattatt agtggttttg gttttaaaaa tgagaagcat
     3541 tatgttcagt gactctaaaa gtaactacag acaatccagt cttcttcagt atctaagagt
     3601 atcctcattt tatatgtaca cacacacaca cacacacaca cacacacaca cacacacaca
     3661 cacaaagcct tatcaagggg ataaggggac ttagggctgg gactccgtag agtcttactt
     3721 ggtaaatatt atgtcatgtt cttatgacta ttgtaaatcc tgttttagca aagcattgct
     3781 gcgaggcagg gaggactgct cttcttgaca cctgtgcatg ttctgccagg ggccctgaga
     3841 aggggctttc aagctgatga gccagagttt actttgtagt ttgcccttac tagttctgta
     3901 accttaatca agttacttaa cttcctgtgc tcagttttct tgtggctaaa tgggagtggt
     3961 aacacccacc ttgtaagttt gttttgaaga ataaataaaa t
//
