LOCUS       NM_006715               3261 bp    mRNA    linear   PRI 05-APR-2024
DEFINITION  Homo sapiens mannosidase alpha class 2C member 1 (MAN2C1),
            transcript variant 1, mRNA.
ACCESSION   NM_006715
VERSION     NM_006715.4
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 3261)
  AUTHORS   Maia,N., Potelle,S., Yildirim,H., Duvet,S., Akula,S.K., Schulz,C.,
            Wiame,E., Gheldof,A., O'Kane,K., Lai,A., Sermon,K., Proisy,M.,
            Loget,P., Attie-Bitach,T., Quelin,C., Fortuna,A.M., Soares,A.R., de
            Brouwer,A.P.M., Van Schaftingen,E., Nassogne,M.C., Walsh,C.A.,
            Stouffs,K., Jorge,P., Jansen,A.C. and Foulquier,F.
  TITLE     Impaired catabolism of free oligosaccharides due to MAN2C1 variants
            causes a neurodevelopmental disorder
  JOURNAL   Am J Hum Genet 109 (2), 345-360 (2022)
   PUBMED   35045343
  REMARK    GeneRIF: Impaired catabolism of free oligosaccharides due to MAN2C1
            variants causes a neurodevelopmental disorder.
REFERENCE   2  (bases 1 to 3261)
  AUTHORS   Caceres,A., Esko,T., Pappa,I., Gutierrez,A., Lopez-Espinosa,M.J.,
            Llop,S., Bustamante,M., Tiemeier,H., Metspalu,A., Joshi,P.K.,
            Wilsonx,J.F., Reina-Castillon,J., Shin,J., Pausova,Z., Paus,T.,
            Sunyer,J., Perez-Jurado,L.A. and Gonzalez,J.R.
  TITLE     Ancient Haplotypes at the 15q24.2 Microdeletion Region Are Linked
            to Brain Expression of MAN2C1 and Children's Intelligence
  JOURNAL   PLoS One 11 (6), e0157739 (2016)
   PUBMED   27355585
  REMARK    GeneRIF: MAN2C1 may contribute to the verbal difficulties observed
            in microduplications and to the intellectual disability of
            microdeletion syndromes
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3261)
  AUTHORS   Wang,L. and Suzuki,T.
  TITLE     Dual functions for cytosolic alpha-mannosidase (Man2C1): its
            down-regulation causes mitochondria-dependent apoptosis
            independently of its alpha-mannosidase activity
  JOURNAL   J Biol Chem 288 (17), 11887-11896 (2013)
   PUBMED   23486476
  REMARK    GeneRIF: Man2C1 has dual functions: one in glycan catabolism and
            another in apoptotic signaling.
REFERENCE   4  (bases 1 to 3261)
  AUTHORS   He,L., Fan,C., Kapoor,A., Ingram,A.J., Rybak,A.P., Austin,R.C.,
            Dickhout,J., Cutz,J.C., Scholey,J. and Tang,D.
  TITLE     alpha-Mannosidase 2C1 attenuates PTEN function in prostate cancer
            cells
  JOURNAL   Nat Commun 2, 307 (2011)
   PUBMED   21556061
  REMARK    GeneRIF: MAN2C1 binds PTEN thereby inhibiting its
            phosphatidylinositol 3,4,5 triphosphate phosphatase activity
REFERENCE   5  (bases 1 to 3261)
  AUTHORS   Uddin,M., Galea,S., Chang,S.C., Aiello,A.E., Wildman,D.E., de los
            Santos,R. and Koenen,K.C.
  TITLE     Gene expression and methylation signatures of MAN2C1 are associated
            with PTSD
  JOURNAL   Dis Markers 30 (2-3), 111-121 (2011)
   PUBMED   21508515
  REMARK    GeneRIF: MAN2C1 methylation levels modify cumulative traumatic
            burden on risk of post traumatic stress disorder
REFERENCE   6  (bases 1 to 3261)
  AUTHORS   Tulsiani,D.R., Skudlarek,M.D., Nagdas,S.K. and Orgebin-Crist,M.C.
  TITLE     Purification and characterization of rat epididymal-fluid
            alpha-D-mannosidase: similarities to sperm plasma-membrane
            alpha-D-mannosidase
  JOURNAL   Biochem J 290 (Pt 2) (Pt 2), 427-436 (1993)
   PUBMED   8452531
REFERENCE   7  (bases 1 to 3261)
  AUTHORS   Moremen,K.W. and Robbins,P.W.
  TITLE     Isolation, characterization, and expression of cDNAs encoding
            murine alpha-mannosidase II, a Golgi enzyme that controls
            conversion of high mannose to complex N-glycans
  JOURNAL   J Cell Biol 115 (6), 1521-1534 (1991)
   PUBMED   1757461
REFERENCE   8  (bases 1 to 3261)
  AUTHORS   Bischoff,J. and Kornfeld,R.
  TITLE     The soluble form of rat liver alpha-mannosidase is immunologically
            related to the endoplasmic reticulum membrane alpha-mannosidase
  JOURNAL   J Biol Chem 261 (10), 4758-4765 (1986)
   PUBMED   2420791
REFERENCE   9  (bases 1 to 3261)
  AUTHORS   Abraham,D., Bou-Gharios,G., Muir,H., Olsen,I., Smith,R. and
            Winchester,B.
  TITLE     Effects of mitogenic stimulation on lymphocyte alpha-D-mannosidases
  JOURNAL   Eur J Cell Biol 40 (2), 167-175 (1986)
   PUBMED   3709545
REFERENCE   10 (bases 1 to 3261)
  AUTHORS   Champion,M.J., Brown,J.A. and Shows,T.B.
  TITLE     Assignment of cytoplasmic alpha-mannosidase (MANA) and confirmation
            of mitochondrial isocitrate dehydrogenase (IDHM) to the q11 leads
            to qter region of chromosome 15 in man
  JOURNAL   Cytogenet Cell Genet 22 (1-6), 498-502 (1978)
   PUBMED   752528
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DC342919.1 and BC050550.1.
            
            On Nov 23, 2018 this sequence version replaced NM_006715.3.
            
            Transcript Variant: This variant (1) encodes 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 :: HM005428.1, SRR1660803.59356.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000267978.10/ ENSP00000267978.4
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-13                DC342919.1         24-36
            14-3261             BC050550.1         1-3248
FEATURES             Location/Qualifiers
     source          1..3261
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q24.2"
     gene            1..3261
                     /gene="MAN2C1"
                     /gene_synonym="CDDG2; MAN6A8; MANA; MANA1"
                     /note="mannosidase alpha class 2C member 1"
                     /db_xref="GeneID:4123"
                     /db_xref="HGNC:HGNC:6827"
                     /db_xref="MIM:154580"
     exon            1..125
                     /gene="MAN2C1"
                     /gene_synonym="CDDG2; MAN6A8; MANA; MANA1"
                     /inference="alignment:Splign:2.1.0"
     CDS             25..3147
                     /gene="MAN2C1"
                     /gene_synonym="CDDG2; MAN6A8; MANA; MANA1"
                     /EC_number="3.2.1.24"
                     /note="isoform 1 is encoded by transcript variant 1;
                     mannosidase, alpha 6A8; mannosidase, alpha A, cytoplasmic;
                     alpha-mannosidase 2C1; alpha mannosidase 6A8B;
                     alpha-D-mannoside mannohydrolase; testicular tissue
                     protein Li 115; cytosolic alpha-mannosidase"
                     /codon_start=1
                     /product="alpha-mannosidase 2C1 isoform 1"
                     /protein_id="NP_006706.2"
                     /db_xref="CCDS:CCDS32298.1"
                     /db_xref="GeneID:4123"
                     /db_xref="HGNC:HGNC:6827"
                     /db_xref="MIM:154580"
                     /translation="MAAAPALKHWRTTLERVEKFVSPLYFTDCNLRGRLFGASCPVAV
                     LSSFLTPERLPYQEAVQRDFRPAQVGDSFGPTWWTCWFRVELTIPEAWVGQEVHLCWE
                     SDGEGLVWRDGEPVQGLTKEGEKTSYVLTDRLGERDPRSLTLYVEVACNGLLGAGKGS
                     MIAAPDPEKMFQLSRAELAVFHRDVHMLLVDLELLLGIAKGLGKDNQRSFQALYTANQ
                     MVNVCDPAQPETFPVAQALASRFFGQHGGESQHTIHATGHCHIDTAWLWPFKETVRKC
                     ARSWVTALQLMERNPEFIFACSQAQQLEWVKSRYPGLYSRIQEFACRGQFVPVGGTWV
                     EMDGNLPSGEAMVRQFLQGQNFFLQEFGKMCSEFWLPDTFGYSAQLPQIMHGCGIRRF
                     LTQKLSWNLVNSFPHHTFFWEGLDGSRVLVHFPPGDSYGMQGSVEEVLKTVANNRDKG
                     RANHSAFLFGFGDGGGGPTQTMLDRLKRLSNTDGLPRVQLSSPRQLFSALESDSEQLC
                     TWVGELFLELHNGTYTTHAQIKKGNRECERILHDVELLSSLALARSAQFLYPAAQLQH
                     LWRLLLLNQFHDVVTGSCIQMVAEEAMCHYEDIRSHGNTLLSAAAAALCAGEPGPEGL
                     LIVNTLPWKRIEVMALPKPGGAHSLALVTVPSMGYAPVPPPTSLQPLLPQQPVFVVQE
                     TDGSVTLDNGIIRVKLDPTGRLTSLVLVASGREAIAEGAVGNQFVLFDDVPLYWDAWD
                     VMDYHLETRKPVLGQAGTLAVGTEGGLRGSAWFLLQISPNSRLSQEVVLDVGCPYVRF
                     HTEVHWHEAHKFLKVEFPARVRSSQATYEIQFGHLQRPTHYNTSWDWARFEVWAHRWM
                     DLSEHGFGLALLNDCKYGASVRGSILSLSLLRAPKAPDATADTGRHEFTYALMPHKGS
                     FQDAGVIQAAYSLNFPLLALPAPSPAPATSWSAFSVSSPAVVLETVKQAESSPQRRSL
                     VLRLYEAHGSHVDCWLHLSLPVQEAILCDLLERPDPAGHLTLRDNRLKLTFSPFQVLS
                     LLLVLQPPPH"
     exon            126..251
                     /gene="MAN2C1"
                     /gene_synonym="CDDG2; MAN6A8; MANA; MANA1"
                     /inference="alignment:Splign:2.1.0"
     exon            252..375
                     /gene="MAN2C1"
                     /gene_synonym="CDDG2; MAN6A8; MANA; MANA1"
                     /inference="alignment:Splign:2.1.0"
     exon            376..446
                     /gene="MAN2C1"
                     /gene_synonym="CDDG2; MAN6A8; MANA; MANA1"
                     /inference="alignment:Splign:2.1.0"
     exon            447..624
                     /gene="MAN2C1"
                     /gene_synonym="CDDG2; MAN6A8; MANA; MANA1"
                     /inference="alignment:Splign:2.1.0"
     exon            625..814
                     /gene="MAN2C1"
                     /gene_synonym="CDDG2; MAN6A8; MANA; MANA1"
                     /inference="alignment:Splign:2.1.0"
     exon            815..921
                     /gene="MAN2C1"
                     /gene_synonym="CDDG2; MAN6A8; MANA; MANA1"
                     /inference="alignment:Splign:2.1.0"
     exon            922..1032
                     /gene="MAN2C1"
                     /gene_synonym="CDDG2; MAN6A8; MANA; MANA1"
                     /inference="alignment:Splign:2.1.0"
     exon            1033..1125
                     /gene="MAN2C1"
                     /gene_synonym="CDDG2; MAN6A8; MANA; MANA1"
                     /inference="alignment:Splign:2.1.0"
     exon            1126..1242
                     /gene="MAN2C1"
                     /gene_synonym="CDDG2; MAN6A8; MANA; MANA1"
                     /inference="alignment:Splign:2.1.0"
     exon            1243..1338
                     /gene="MAN2C1"
                     /gene_synonym="CDDG2; MAN6A8; MANA; MANA1"
                     /inference="alignment:Splign:2.1.0"
     exon            1339..1484
                     /gene="MAN2C1"
                     /gene_synonym="CDDG2; MAN6A8; MANA; MANA1"
                     /inference="alignment:Splign:2.1.0"
     exon            1485..1608
                     /gene="MAN2C1"
                     /gene_synonym="CDDG2; MAN6A8; MANA; MANA1"
                     /inference="alignment:Splign:2.1.0"
     exon            1609..1730
                     /gene="MAN2C1"
                     /gene_synonym="CDDG2; MAN6A8; MANA; MANA1"
                     /inference="alignment:Splign:2.1.0"
     exon            1731..1816
                     /gene="MAN2C1"
                     /gene_synonym="CDDG2; MAN6A8; MANA; MANA1"
                     /inference="alignment:Splign:2.1.0"
     exon            1817..1972
                     /gene="MAN2C1"
                     /gene_synonym="CDDG2; MAN6A8; MANA; MANA1"
                     /inference="alignment:Splign:2.1.0"
     exon            1973..2070
                     /gene="MAN2C1"
                     /gene_synonym="CDDG2; MAN6A8; MANA; MANA1"
                     /inference="alignment:Splign:2.1.0"
     exon            2071..2165
                     /gene="MAN2C1"
                     /gene_synonym="CDDG2; MAN6A8; MANA; MANA1"
                     /inference="alignment:Splign:2.1.0"
     exon            2166..2270
                     /gene="MAN2C1"
                     /gene_synonym="CDDG2; MAN6A8; MANA; MANA1"
                     /inference="alignment:Splign:2.1.0"
     exon            2271..2427
                     /gene="MAN2C1"
                     /gene_synonym="CDDG2; MAN6A8; MANA; MANA1"
                     /inference="alignment:Splign:2.1.0"
     exon            2428..2571
                     /gene="MAN2C1"
                     /gene_synonym="CDDG2; MAN6A8; MANA; MANA1"
                     /inference="alignment:Splign:2.1.0"
     exon            2572..2681
                     /gene="MAN2C1"
                     /gene_synonym="CDDG2; MAN6A8; MANA; MANA1"
                     /inference="alignment:Splign:2.1.0"
     exon            2682..2761
                     /gene="MAN2C1"
                     /gene_synonym="CDDG2; MAN6A8; MANA; MANA1"
                     /inference="alignment:Splign:2.1.0"
     exon            2762..2910
                     /gene="MAN2C1"
                     /gene_synonym="CDDG2; MAN6A8; MANA; MANA1"
                     /inference="alignment:Splign:2.1.0"
     exon            2911..3020
                     /gene="MAN2C1"
                     /gene_synonym="CDDG2; MAN6A8; MANA; MANA1"
                     /inference="alignment:Splign:2.1.0"
     exon            3021..3261
                     /gene="MAN2C1"
                     /gene_synonym="CDDG2; MAN6A8; MANA; MANA1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3241..3246
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MAN2C1"
                     /gene_synonym="CDDG2; MAN6A8; MANA; MANA1"
                     /note="hexamer: AATAAA"
     polyA_site      3261
                     /gene="MAN2C1"
                     /gene_synonym="CDDG2; MAN6A8; MANA; MANA1"
                     /note="major polyA site"
ORIGIN      
        1 ggaaagagga gcgagagccc ggcgatggcg gctgcgccgg ccttgaagca ctggcgcacc
       61 acgctggagc gggtggagaa gttcgtgtcg ccgctctact ttaccgactg taacctccgc
      121 ggcaggcttt ttggggccag ctgccctgtg gctgtgctct ccagcttcct gacgccggag
      181 agacttccct accaggaggc agtccagcgg gacttccgcc ccgcgcaggt cggcgacagc
      241 ttcggaccca catggtggac ctgctggttc cgggtggagc tgaccatccc agaggcatgg
      301 gtgggccagg aagttcacct ttgctgggaa agtgatggag aaggtctggt gtggcgtgat
      361 ggagaacctg tccagggttt aaccaaagag ggtgagaaga ccagctatgt cctgactgac
      421 aggctggggg aaagagaccc ccgaagcctc actctctatg tggaagtagc ctgcaatggg
      481 ctcctggggg ccgggaaggg aagcatgatt gcagcccctg accctgagaa gatgttccag
      541 ctgagccggg ctgagctagc tgtgttccac cgggatgtcc acatgctcct ggtggatctg
      601 gagctgctgc tgggcatagc caagggcctc gggaaggaca accagcgcag cttccaggcc
      661 ctgtacacag ccaatcagat ggtgaacgtg tgtgaccctg cccagcccga gaccttccca
      721 gtggcccagg ccctggcctc caggttcttt ggccaacatg ggggtgaaag ccaacacacc
      781 attcatgcca cagggcactg ccacattgat acagcctggc tttggccctt caaagagact
      841 gtgaggaaat gtgcccggag ctgggtgacc gccctgcagc tcatggagcg gaaccctgag
      901 ttcatctttg cctgctccca ggcgcagcag ctggaatggg tgaagagccg ctaccctggc
      961 ctgtactccc gcatccagga gtttgcgtgc cgtgggcagt ttgtgcctgt ggggggcacc
     1021 tgggtggaga tggatgggaa cctgcccagt ggagaggcca tggtgaggca gtttttgcag
     1081 ggccagaact tctttctgca ggagtttggg aagatgtgct ctgagttctg gctgccggac
     1141 acctttggct actcagcaca gctcccccag atcatgcacg gctgtggcat caggcgcttt
     1201 ctcacccaga aattgagctg gaatttggtg aactccttcc cacaccatac atttttctgg
     1261 gagggcctgg atggctcccg tgtactggtc cacttcccac ctggcgactc ctatgggatg
     1321 cagggcagcg tggaggaggt gctgaagacc gtggccaaca accgggacaa ggggcgggcc
     1381 aaccacagtg ccttcctctt tggctttggg gatgggggtg gtggccccac ccagaccatg
     1441 ctggaccgcc tgaagcgcct gagcaatacg gatgggctgc ccagggtgca gctatcttct
     1501 ccaagacagc tcttctcagc actggagagt gactcagagc agctgtgcac gtgggttggg
     1561 gagctcttct tggagctgca caatggcaca tacaccaccc atgcccagat caagaagggg
     1621 aaccgggaat gtgagcggat cctgcacgac gtggagctgc tcagtagcct ggccctggcc
     1681 cgcagtgccc agttcctata cccagcagcc cagctgcagc acctctggag gctccttctt
     1741 ctgaaccagt tccatgatgt ggtgactgga agctgcatcc agatggtggc agaggaagcc
     1801 atgtgccatt atgaagacat ccgttcccat ggcaatacac tgctcagcgc tgcagccgca
     1861 gccctgtgtg ctggggagcc aggtcctgag ggcctcctca tcgtcaacac actgccctgg
     1921 aagcggatcg aagtgatggc cctgcccaaa ccgggcgggg cccacagcct agccctggtg
     1981 acagtgccca gcatgggcta tgctcctgtt cctcccccca cctcactgca gcccctgctg
     2041 ccccagcagc ctgtgttcgt agtgcaagag actgatggct ccgtgactct ggacaatggc
     2101 atcatccgag tgaagctgga cccaactggt cgcctgacgt ccttggtcct ggtggcctct
     2161 ggcagggagg ccattgctga gggcgccgtg gggaaccagt ttgtgctatt tgatgatgtc
     2221 cccttgtact gggatgcatg ggacgtcatg gactaccacc tggagacacg gaagcctgtg
     2281 ctgggccagg cagggaccct ggcagtgggc accgagggcg gcctgcgggg cagcgcctgg
     2341 ttcttgctac agatcagccc caacagtcgg cttagccagg aggttgtgct ggacgttggc
     2401 tgcccctatg tccgcttcca caccgaggta cactggcatg aggcccacaa gttcctgaag
     2461 gtggagttcc ctgctcgcgt gcggagttcc caggccacct atgagatcca gtttgggcac
     2521 ctgcagcgac ctacccacta caatacctct tgggactggg ctcgatttga ggtgtgggcc
     2581 catcgctgga tggatctgtc agaacacggc tttgggctgg ccctgctcaa cgactgcaag
     2641 tatggcgcgt cagtgcgagg cagcatcctc agcctctcgc tcttgcgggc gcctaaagcc
     2701 ccggacgcta ctgctgacac ggggcgccac gagttcacct atgcactgat gccgcacaag
     2761 ggctctttcc aggatgctgg cgttatccaa gctgcctaca gcctaaactt ccccctgttg
     2821 gctctgccag cccccagccc agcgcccgcc acctcctgga gtgcgttttc cgtgtcttca
     2881 cccgcggtcg tattggagac cgtcaagcag gcggagagca gcccccagcg ccgctcgctg
     2941 gtcctgaggc tgtatgaggc ccacggcagc cacgtggact gctggctgca cttgtcgctg
     3001 ccggttcagg aggccatcct ctgcgatctc ttggagcgac cagaccctgc tggccacttg
     3061 acccttcggg acaaccgcct gaagctcacc ttttctccct tccaagtgct gtccctgttg
     3121 ctcgtgcttc agcctccgcc acactgagtc cctggggctg gggttttgtt tgtagaaggc
     3181 tctggggact cctaatttct gcttccccag cctaaagcag ggatcagtct tttcttgtgg
     3241 aataaatcct tggatcggga a
//
