LOCUS       NM_016219               2707 bp    mRNA    linear   PRI 07-OCT-2024
DEFINITION  Homo sapiens mannosidase alpha class 1B member 1 (MAN1B1),
            transcript variant 1, mRNA.
ACCESSION   NM_016219 NM_007230
VERSION     NM_016219.5
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 2707)
  AUTHORS   You,H., Zhang,N., Yu,T., Ma,L., Li,Q., Wang,X., Yuan,D., Kong,D.,
            Liu,X., Hu,W., Liu,D., Kong,F., Zheng,K. and Tang,R.
  TITLE     Hepatitis B virus X protein promotes MAN1B1 expression by enhancing
            stability of GRP78 via TRIM25 to facilitate hepatocarcinogenesis
  JOURNAL   Br J Cancer 128 (6), 992-1004 (2023)
   PUBMED   36635499
  REMARK    GeneRIF: Hepatitis B virus X protein promotes MAN1B1 expression by
            enhancing stability of GRP78 via TRIM25 to facilitate
            hepatocarcinogenesis.
REFERENCE   2  (bases 1 to 2707)
  AUTHORS   Kasapkara,C.S., Olgac,A., Kilic,M., Keldermans,L., Matthijs,G. and
            Jaeken,J.
  TITLE     MAN1B1-CDG: novel patients and novel variant
  JOURNAL   J Pediatr Endocrinol Metab 34 (9), 1207-1209 (2021)
   PUBMED   34162022
  REMARK    GeneRIF: MAN1B1-CDG: novel patients and novel variant.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2707)
  AUTHORS   Sun,A.H., Collette,J.R. and Sifers,R.N.
  TITLE     The cytoplasmic tail of human mannosidase Man1b1 contributes to
            catalysis-independent quality control of misfolded
            alpha1-antitrypsin
  JOURNAL   Proc Natl Acad Sci U S A 117 (40), 24825-24836 (2020)
   PUBMED   32958677
  REMARK    GeneRIF: The cytoplasmic tail of human mannosidase Man1b1
            contributes to catalysis-independent quality control of misfolded
            alpha1-antitrypsin.
REFERENCE   4  (bases 1 to 2707)
  AUTHORS   Iannotti,M.J., Figard,L., Sokac,A.M. and Sifers,R.N.
  TITLE     A Golgi-localized mannosidase (MAN1B1) plays a non-enzymatic
            gatekeeper role in protein biosynthetic quality control
  JOURNAL   J Biol Chem 289 (17), 11844-11858 (2014)
   PUBMED   24627495
REFERENCE   5  (bases 1 to 2707)
  AUTHORS   Rafiq,M.A., Kuss,A.W., Puettmann,L., Noor,A., Ramiah,A., Ali,G.,
            Hu,H., Kerio,N.A., Xiang,Y., Garshasbi,M., Khan,M.A., Ishak,G.E.,
            Weksberg,R., Ullmann,R., Tzschach,A., Kahrizi,K., Mahmood,K.,
            Naeem,F., Ayub,M., Moremen,K.W., Vincent,J.B., Ropers,H.H.,
            Ansar,M. and Najmabadi,H.
  TITLE     Mutations in the alpha 1,2-mannosidase gene, MAN1B1, cause
            autosomal-recessive intellectual disability
  JOURNAL   Am J Hum Genet 89 (1), 176-182 (2011)
   PUBMED   21763484
  REMARK    GeneRIF: A homozygous nonsense mutation in MAN1B1 segregated with
            nonsyndromic autosomal-recessive intellectual disability and
            additional dysmorphic features.
            Erratum:[Am J Hum Genet. 2011 Aug 12;89(2):348]
REFERENCE   6  (bases 1 to 2707)
  AUTHORS   Herscovics,A., Romero,P.A. and Tremblay,L.O.
  TITLE     The specificity of the yeast and human class I ER alpha
            1,2-mannosidases involved in ER quality control is not as strict
            previously reported
  JOURNAL   Glycobiology 12 (4), 14G-15G (2002)
   PUBMED   12090241
REFERENCE   7  (bases 1 to 2707)
  AUTHORS   Vallee,F., Karaveg,K., Herscovics,A., Moremen,K.W. and Howell,P.L.
  TITLE     Structural basis for catalysis and inhibition of N-glycan
            processing class I alpha 1,2-mannosidases
  JOURNAL   J Biol Chem 275 (52), 41287-41298 (2000)
   PUBMED   10995765
REFERENCE   8  (bases 1 to 2707)
  AUTHORS   Tremblay,L.O. and Herscovics,A.
  TITLE     Cloning and expression of a specific human alpha 1,2-mannosidase
            that trims Man9GlcNAc2 to Man8GlcNAc2 isomer B during N-glycan
            biosynthesis
  JOURNAL   Glycobiology 9 (10), 1073-1078 (1999)
   PUBMED   10521544
REFERENCE   9  (bases 1 to 2707)
  AUTHORS   Gonzalez,D.S., Karaveg,K., Vandersall-Nairn,A.S., Lal,A. and
            Moremen,K.W.
  TITLE     Identification, expression, and characterization of a cDNA encoding
            human endoplasmic reticulum mannosidase I, the enzyme that
            catalyzes the first mannose trimming step in mammalian Asn-linked
            oligosaccharide biosynthesis
  JOURNAL   J Biol Chem 274 (30), 21375-21386 (1999)
   PUBMED   10409699
REFERENCE   10 (bases 1 to 2707)
  AUTHORS   Sparks,S.E. and Krasnewich,D.M.
  TITLE     Congenital Disorders of N-Linked Glycosylation and Multiple Pathway
            Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301507
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC006079.1 and BC002953.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_016219.4.
            
            Summary: This gene encodes an enzyme belonging to the glycosyl
            hydrolase 47 family. This enzyme functions in N-glycan
            biosynthesis, and is a class I alpha-1,2-mannosidase that
            specifically converts Man9GlcNAc to Man8GlcNAc isomer B. It is
            required for N-glycan trimming to Man5-6GlcNAc2 in the
            endoplasmic-reticulum-associated degradation pathway. Mutations in
            this gene cause autosomal-recessive intellectual disability.
            Alternative splicing results in multiple transcript variants. A
            related pseudogene has been identified on chromosome 11. [provided
            by RefSeq, Dec 2011].
            
            Transcript Variant: This variant (1) encodes the supported protein.
            
            Sequence Note: This RefSeq uses the 5'-most in-frame start codon,
            resulting in a protein N-terminus that is primate-specific. The use
            of an alternative downstream start codon, which is better conserved
            among vertebrates, is also possible, and would result in a protein
            that is 36 aa shorter at the N-terminus. It is unknown which start
            codon is preferentially used in vivo.
            
            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 :: BC006079.1, AY358465.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000371589.9/ ENSP00000360645.4
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-2060              BC006079.1         1-2060
            2061-2707           BC002953.1         2052-2698
FEATURES             Location/Qualifiers
     source          1..2707
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q34.3"
     gene            1..2707
                     /gene="MAN1B1"
                     /gene_synonym="ERMAN1; ERManI; MANA-ER; MRT15"
                     /note="mannosidase alpha class 1B member 1"
                     /db_xref="GeneID:11253"
                     /db_xref="HGNC:HGNC:6823"
                     /db_xref="MIM:604346"
     exon            1..234
                     /gene="MAN1B1"
                     /gene_synonym="ERMAN1; ERManI; MANA-ER; MRT15"
                     /inference="alignment:Splign:2.1.0"
     CDS             16..2115
                     /gene="MAN1B1"
                     /gene_synonym="ERMAN1; ERManI; MANA-ER; MRT15"
                     /EC_number="3.2.1.113"
                     /note="endoplasmic reticulum mannosyl-oligosaccharide
                     1,2-alpha-mannosidase 1; ER alpha 1,2-mannosidase;
                     Man9GlcNAc2-specific processing alpha-mannosidase;
                     endoplasmic Reticulum Class I alpha-mannosidase"
                     /codon_start=1
                     /product="endoplasmic reticulum mannosyl-oligosaccharide
                     1,2-alpha-mannosidase"
                     /protein_id="NP_057303.2"
                     /db_xref="CCDS:CCDS7029.1"
                     /db_xref="GeneID:11253"
                     /db_xref="HGNC:HGNC:6823"
                     /db_xref="MIM:604346"
                     /translation="MAACEGRRSGALGSSQSDFLTPPVGGAPWAVATTVVMYPPPPPP
                     PHRDFISVTLSFGENYDNSKSWRRRSCWRKWKQLSRLQRNMILFLLAFLLFCGLLFYI
                     NLADHWKALAFRLEEEQKMRPEIAGLKPANPPVLPAPQKADTDPENLPEISSQKTQRH
                     IQRGPPHLQIRPPSQDLKDGTQEEATKRQEAPVDPRPEGDPQRTVISWRGAVIEPEQG
                     TELPSRRAEVPTKPPLPPARTQGTPVHLNYRQKGVIDVFLHAWKGYRKFAWGHDELKP
                     VSRSFSEWFGLGLTLIDALDTMWILGLRKEFEEARKWVSKKLHFEKDVDVNLFESTIR
                     ILGGLLSAYHLSGDSLFLRKAEDFGNRLMPAFRTPSKIPYSDVNIGTGVAHPPRWTSD
                     STVAEVTSIQLEFRELSRLTGDKKFQEAVEKVTQHIHGLSGKKDGLVPMFINTHSGLF
                     THLGVFTLGARADSYYEYLLKQWIQGGKQETQLLEDYVEAIEGVRTHLLRHSEPSKLT
                     FVGELAHGRFSAKMDHLVCFLPGTLALGVYHGLPASHMELAQELMETCYQMNRQMETG
                     LSPEIVHFNLYPQPGRRDVEVKPADRHNLLRPETVESLFYLYRVTGDRKYQDWGWEIL
                     QSFSRFTRVPSGGYSSINNVQDPQKPEPRDKMESFFLGETLKYLFLLFSDDPNLLSLD
                     AYVFNTEAHPLPIWTPA"
     exon            235..343
                     /gene="MAN1B1"
                     /gene_synonym="ERMAN1; ERManI; MANA-ER; MRT15"
                     /inference="alignment:Splign:2.1.0"
     exon            344..480
                     /gene="MAN1B1"
                     /gene_synonym="ERMAN1; ERManI; MANA-ER; MRT15"
                     /inference="alignment:Splign:2.1.0"
     exon            481..635
                     /gene="MAN1B1"
                     /gene_synonym="ERMAN1; ERManI; MANA-ER; MRT15"
                     /inference="alignment:Splign:2.1.0"
     exon            636..745
                     /gene="MAN1B1"
                     /gene_synonym="ERMAN1; ERManI; MANA-ER; MRT15"
                     /inference="alignment:Splign:2.1.0"
     exon            746..931
                     /gene="MAN1B1"
                     /gene_synonym="ERMAN1; ERManI; MANA-ER; MRT15"
                     /inference="alignment:Splign:2.1.0"
     exon            932..1080
                     /gene="MAN1B1"
                     /gene_synonym="ERMAN1; ERManI; MANA-ER; MRT15"
                     /inference="alignment:Splign:2.1.0"
     exon            1081..1269
                     /gene="MAN1B1"
                     /gene_synonym="ERMAN1; ERManI; MANA-ER; MRT15"
                     /inference="alignment:Splign:2.1.0"
     exon            1270..1460
                     /gene="MAN1B1"
                     /gene_synonym="ERMAN1; ERManI; MANA-ER; MRT15"
                     /inference="alignment:Splign:2.1.0"
     exon            1461..1581
                     /gene="MAN1B1"
                     /gene_synonym="ERMAN1; ERManI; MANA-ER; MRT15"
                     /inference="alignment:Splign:2.1.0"
     exon            1582..1779
                     /gene="MAN1B1"
                     /gene_synonym="ERMAN1; ERManI; MANA-ER; MRT15"
                     /inference="alignment:Splign:2.1.0"
     exon            1780..1911
                     /gene="MAN1B1"
                     /gene_synonym="ERMAN1; ERManI; MANA-ER; MRT15"
                     /inference="alignment:Splign:2.1.0"
     exon            1912..2707
                     /gene="MAN1B1"
                     /gene_synonym="ERMAN1; ERManI; MANA-ER; MRT15"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2686..2691
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MAN1B1"
                     /gene_synonym="ERMAN1; ERManI; MANA-ER; MRT15"
                     /note="hexamer: GATAAA"
     polyA_site      2707
                     /gene="MAN1B1"
                     /gene_synonym="ERMAN1; ERManI; MANA-ER; MRT15"
                     /note="major polyA site"
ORIGIN      
        1 gttgacggcg ctgcgatggc tgcctgcgag ggcaggagaa gcggagctct cggttcctct
       61 cagtcggact tcctgacgcc gccagtgggc ggggcccctt gggccgtcgc caccactgta
      121 gtcatgtacc caccgccgcc gccgccgcct catcgggact tcatctcggt gacgctgagc
      181 tttggcgaga actatgacaa cagcaagagt tggcggcggc gctcgtgctg gaggaaatgg
      241 aagcaactgt cgagattgca gcggaatatg attctcttcc tccttgcctt tctgcttttc
      301 tgtggactcc tcttctacat caacttggct gaccattgga aagctctggc tttcaggcta
      361 gaggaagagc agaagatgag gccagaaatt gctgggttaa aaccagcaaa tccacccgtc
      421 ttaccagctc ctcagaaggc ggacaccgac cctgagaact tacctgagat ttcgtcacag
      481 aagacacaaa gacacatcca gcggggacca cctcacctgc agattagacc cccaagccaa
      541 gacctgaagg atgggaccca ggaggaggcc acaaaaaggc aagaagcccc tgtggatccc
      601 cgcccggaag gagatccgca gaggacagtc atcagctgga ggggagcggt gatcgagcct
      661 gagcagggca ccgagctccc ttcaagaaga gcagaagtgc ccaccaagcc tcccctgcca
      721 ccggccagga cacagggcac accagtgcat ctgaactatc gccagaaggg cgtgattgac
      781 gtcttcctgc atgcatggaa aggataccgc aagtttgcat ggggccatga cgagctgaag
      841 cctgtgtcca ggtccttcag tgagtggttt ggcctcggtc tcacactgat cgacgcgctg
      901 gacaccatgt ggatcttggg tctgaggaaa gaatttgagg aagccaggaa gtgggtgtcg
      961 aagaagttac actttgaaaa ggacgtggac gtcaacctgt ttgagagcac gatccgcatc
     1021 ctgggggggc tcctgagtgc ctaccacctg tctggggaca gcctcttcct gaggaaagct
     1081 gaggattttg gaaatcggct aatgcctgcc ttcagaacac catccaagat tccttactcg
     1141 gatgtgaaca tcggtactgg agttgcccac ccgccacggt ggacctccga cagcactgtg
     1201 gccgaggtga ccagcattca gctggagttc cgggagctct cccgtctcac aggggataag
     1261 aagtttcagg aggcagtgga gaaggtgaca cagcacatcc acggcctgtc tgggaagaag
     1321 gatgggctgg tgcccatgtt catcaatacc cacagtggcc tcttcaccca cctgggcgta
     1381 ttcacgctgg gcgccagggc cgacagctac tatgagtacc tgctgaagca gtggatccag
     1441 ggcgggaagc aggagacaca gctgctggaa gactacgtgg aagccatcga gggtgtcaga
     1501 acgcacctgc tgcggcactc cgagcccagt aagctcacct ttgtggggga gcttgcccac
     1561 ggccgcttca gtgccaagat ggaccacctg gtgtgcttcc tgccagggac gctggctctg
     1621 ggcgtctacc acggcctgcc cgccagccac atggagctgg cccaggagct catggagact
     1681 tgttaccaga tgaaccggca gatggagacg gggctgagtc ccgagatcgt gcacttcaac
     1741 ctttaccccc agccgggccg tcgggacgtg gaggtcaagc cagcagacag gcacaacctg
     1801 ctgcggccag agaccgtgga gagcctgttc tacctgtacc gcgtcacagg ggaccgcaaa
     1861 taccaggact ggggctggga gattctgcag agcttcagcc gattcacacg ggtcccctcg
     1921 ggtggctatt cttccatcaa caatgtccag gatcctcaga agcccgagcc tagggacaag
     1981 atggagagct tcttcctggg ggagacgctc aagtatctgt tcttgctctt ctccgatgac
     2041 ccaaacctgc tcagcctgga tgcctacgtg ttcaacaccg aagcccaccc tctgcctatc
     2101 tggacccctg cctagggtgg atggctgctg gtgtggggac ttcgggtggg cagaggcacc
     2161 ttgctgggtc tgtggcattt tccaagggcc cacgtagcac cggcaaccgc caagtggccc
     2221 aggctctgaa ctggctctgg gctcctcctc gtctctgctt taatcaggac accgtgagga
     2281 caagtgaggc cgtcagtctt ggtgtgatgc ggggtgggct gggccgctgg agcctccgcc
     2341 tgcttcctcc agaagacacg aatcatgact cacgattgct gaagcctgag caggtctctg
     2401 tgggccgacc agaggggggc ttcgaggtgg tccctggtac tggggtgacc gagtggacag
     2461 cccagggtgc agctctgccc gggctcgtga agcctcagat gtccccaatc caagggtctg
     2521 gaggggctgc cgtgactcca gaggcctgag gctccagggc tggctctggt gtttacaagc
     2581 tggactcagg gatcctcctg gccgccccgc agggggcttg gagggctgga cggcaagtcc
     2641 gtctagctca cgggcccctc cagtggaatg ggtcttttcg gtggagataa aagttgattt
     2701 gctctaa
//
