LOCUS       NM_014730               6341 bp    mRNA    linear   PRI 06-NOV-2024
DEFINITION  Homo sapiens malectin (MLEC), transcript variant 1, mRNA.
ACCESSION   NM_014730 XM_375002
VERSION     NM_014730.4
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 6341)
  AUTHORS   Cho,N.H., Cheveralls,K.C., Brunner,A.D., Kim,K., Michaelis,A.C.,
            Raghavan,P., Kobayashi,H., Savy,L., Li,J.Y., Canaj,H., Kim,J.Y.S.,
            Stewart,E.M., Gnann,C., McCarthy,F., Cabrera,J.P., Brunetti,R.M.,
            Chhun,B.B., Dingle,G., Hein,M.Y., Huang,B., Mehta,S.B.,
            Weissman,J.S., Gomez-Sjoberg,R., Itzhak,D.N., Royer,L.A., Mann,M.
            and Leonetti,M.D.
  TITLE     OpenCell: Endogenous tagging for the cartography of human cellular
            organization
  JOURNAL   Science 375 (6585), eabi6983 (2022)
   PUBMED   35271311
REFERENCE   2  (bases 1 to 6341)
  AUTHORS   Ramirez,A.S., Kowal,J. and Locher,K.P.
  TITLE     Cryo-electron microscopy structures of human
            oligosaccharyltransferase complexes OST-A and OST-B
  JOURNAL   Science 366 (6471), 1372-1375 (2019)
   PUBMED   31831667
REFERENCE   3  (bases 1 to 6341)
  AUTHORS   Fasci,D., van Ingen,H., Scheltema,R.A. and Heck,A.J.R.
  TITLE     Histone Interaction Landscapes Visualized by Crosslinking Mass
            Spectrometry in Intact Cell Nuclei
  JOURNAL   Mol Cell Proteomics 17 (10), 2018-2033 (2018)
   PUBMED   30021884
REFERENCE   4  (bases 1 to 6341)
  AUTHORS   Shi,W., Zhu,Y., Zhou,M., Ruan,Y., Chen,X. and Chen,X.
  TITLE     Malectin gene polymorphisms promote cerebral palsy via M2-like
            macrophage polarization
  JOURNAL   Clin Genet 93 (4), 794-799 (2018)
   PUBMED   28972276
  REMARK    GeneRIF: The results of in vitro studies suggest that C alleles of
            rs10431386 and rs7964786 on MLEC promotes cerebral palsy (CP) by
            inhibiting M1 to M2 macrophage polarization. Generally, this work
            suggested the contribution of MLEC gene polymorphisms to the
            pathogenesis of CP
REFERENCE   5  (bases 1 to 6341)
  AUTHORS   Takeda,K., Qin,S.Y., Matsumoto,N. and Yamamoto,K.
  TITLE     Association of malectin with ribophorin I is crucial for
            attenuation of misfolded glycoprotein secretion
  JOURNAL   Biochem Biophys Res Commun 454 (3), 436-440 (2014)
   PUBMED   25451265
  REMARK    GeneRIF: These results clearly demonstrate that the association of
            malectin with ribophorin I is required to capture misfolded
            alpha1-antitrypsin and direct them to the degradation pathway.
REFERENCE   6  (bases 1 to 6341)
  AUTHORS   Chen,Y., Hu,D., Yabe,R., Tateno,H., Qin,S.Y., Matsumoto,N.,
            Hirabayashi,J. and Yamamoto,K.
  TITLE     Role of malectin in Glc(2)Man(9)GlcNAc(2)-dependent quality control
            of alpha1-antitrypsin
  JOURNAL   Mol Biol Cell 22 (19), 3559-3570 (2011)
   PUBMED   21813736
  REMARK    GeneRIF: These observations suggest a possible role of malectin in
            regulating newly synthesized glycoproteins via G2M9 recognition.
REFERENCE   7  (bases 1 to 6341)
  AUTHORS   Xu,Y., Li,F., Zhang,B., Zhang,K., Zhang,F., Huang,X., Sun,N.,
            Ren,Y., Sui,M. and Liu,P.
  TITLE     MicroRNAs and target site screening reveals a pre-microRNA-30e
            variant associated with schizophrenia
  JOURNAL   Schizophr Res 119 (1-3), 219-227 (2010)
   PUBMED   20347265
  REMARK    GeneRIF: Observational study of gene-disease association and
            gene-gene interaction. (HuGE Navigator)
REFERENCE   8  (bases 1 to 6341)
  AUTHORS   Schallus,T., Jaeckh,C., Feher,K., Palma,A.S., Liu,Y., Simpson,J.C.,
            Mackeen,M., Stier,G., Gibson,T.J., Feizi,T., Pieler,T. and
            Muhle-Goll,C.
  TITLE     Malectin: a novel carbohydrate-binding protein of the endoplasmic
            reticulum and a candidate player in the early steps of protein
            N-glycosylation
  JOURNAL   Mol Biol Cell 19 (8), 3404-3414 (2008)
   PUBMED   18524852
  REMARK    GeneRIF: Malectin is a novel carbohydrate-binding protein of the
            endoplasmic reticulum and a candidate player in the early steps of
            protein N-glycosylation
REFERENCE   9  (bases 1 to 6341)
  AUTHORS   Caramelo,J.J. and Parodi,A.J.
  TITLE     Getting in and out from calnexin/calreticulin cycles
  JOURNAL   J Biol Chem 283 (16), 10221-10225 (2008)
   PUBMED   18303019
  REMARK    Review article
REFERENCE   10 (bases 1 to 6341)
  AUTHORS   Pelletier,M.F., Marcil,A., Sevigny,G., Jakob,C.A., Tessier,D.C.,
            Chevet,E., Menard,R., Bergeron,J.J. and Thomas,D.Y.
  TITLE     The heterodimeric structure of glucosidase II is required for its
            activity, solubility, and localization in vivo
  JOURNAL   Glycobiology 10 (8), 815-827 (2000)
   PUBMED   10929008
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BG718506.1, BC016297.2,
            AC069234.35 and AA831396.1.
            
            On Nov 23, 2018 this sequence version replaced NM_014730.3.
            
            Summary: This gene encodes the carbohydrate-binding protein
            malectin which is a Type I membrane-anchored endoplasmic reticulum
            protein. This protein has an affinity for Glc2Man9GlcNAc2 (G2M9)
            N-glycans and is involved in regulating glycosylation in the
            endoplasmic reticulum. This protein has also been shown to interact
            with ribophorin I and may be involved in the directing the
            degradation of misfolded proteins. Alternate splicing results in
            multiple transcript variants. [provided by RefSeq, Jan 2015].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (1).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            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 :: SRR1803617.58579.1,
                                           SRR1660805.33469.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000228506.8/ ENSP00000228506.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-24                BG718506.1         31-54
            25-1127             BC016297.2         1-1103
            1128-6195           AC069234.35        116482-121549       c
            6196-6341           AA831396.1         18-163              c
FEATURES             Location/Qualifiers
     source          1..6341
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q24.31"
     gene            1..6341
                     /gene="MLEC"
                     /gene_synonym="KIAA0152"
                     /note="malectin"
                     /db_xref="GeneID:9761"
                     /db_xref="HGNC:HGNC:28973"
                     /db_xref="MIM:613802"
     exon            1..383
                     /gene="MLEC"
                     /gene_synonym="KIAA0152"
                     /inference="alignment:Splign:2.1.0"
     CDS             149..1027
                     /gene="MLEC"
                     /gene_synonym="KIAA0152"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1; oligosaccharyltransferase complex subunit
                     (non-catalytic)"
                     /codon_start=1
                     /product="malectin isoform 1 precursor"
                     /protein_id="NP_055545.1"
                     /db_xref="CCDS:CCDS9206.1"
                     /db_xref="GeneID:9761"
                     /db_xref="HGNC:HGNC:28973"
                     /db_xref="MIM:613802"
                     /translation="MLGAWAVEGTAVALLRLLLLLLPPAIRGPGLGVAGVAGAAGAGL
                     PESVIWAVNAGGEAHVDVHGIHFRKDPLEGRVGRASDYGMKLPILRSNPEDQILYQTE
                     RYNEETFGYEVPIKEEGDYVLVLKFAEVYFAQSQQKVFDVRLNGHVVVKDLDIFDRVG
                     HSTAHDEIIPMSIRKGKLSVQGEVSTFTGKLYIEFVKGYYDNPKVCALYIMAGTVDDV
                     PKLQPHPGLEKKEEEEEEEEYDEGSNLKKQTNKNRVQSGPRTPNPYASDNSSLMFPIL
                     VAFGVFIPTLFCLCRL"
     exon            384..562
                     /gene="MLEC"
                     /gene_synonym="KIAA0152"
                     /inference="alignment:Splign:2.1.0"
     exon            563..739
                     /gene="MLEC"
                     /gene_synonym="KIAA0152"
                     /inference="alignment:Splign:2.1.0"
     exon            740..797
                     /gene="MLEC"
                     /gene_synonym="KIAA0152"
                     /inference="alignment:Splign:2.1.0"
     exon            798..6341
                     /gene="MLEC"
                     /gene_synonym="KIAA0152"
                     /inference="alignment:Splign:2.1.0"
     regulatory      6321..6326
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MLEC"
                     /gene_synonym="KIAA0152"
                     /note="hexamer: AATAAA"
     polyA_site      6341
                     /gene="MLEC"
                     /gene_synonym="KIAA0152"
                     /note="major polyA site"
ORIGIN      
        1 gtggctgaga agaaggaggc ctgagagcga catgtccccg gcggctcagg cggagcggcc
       61 cgtggcgctg tttttctgag tccggggtgg cctggcagcc ggccgaggac gagggtcggc
      121 gggggctgcc cccgtggtgg tggccgccat gctgggagcc tgggcggttg agggaaccgc
      181 tgtggcgctc ctgcgactgc tgctgctgct gctgccgccg gcgatccggg gacccgggct
      241 cggcgtggcc ggcgtggccg gcgcggcggg ggccgggctg cccgagagcg tcatttgggc
      301 ggtcaacgcg ggtggagagg cgcatgtgga cgtgcacggg atccacttcc gcaaggaccc
      361 tttggaaggc cgggtgggcc gagcctcaga ctatggcatg aaactgccaa tcctgcgttc
      421 caaccctgag gaccagatcc tgtatcaaac tgagcggtac aatgaggaga cctttggcta
      481 cgaagtgccc atcaaagagg agggggacta cgtgctggtc ttgaaatttg cagaggtcta
      541 ctttgcacag tcccagcaaa aggtatttga tgtacgattg aatggccacg tcgtggtgaa
      601 ggacttggat atctttgatc gtgttgggca tagcacagct cacgatgaaa ttatacctat
      661 gagcatcaga aaggggaagc tgagtgtcca gggggaggtg tccaccttca cagggaaact
      721 ctacattgag tttgtcaagg ggtactatga caatcccaag gtctgtgcac tctacatcat
      781 ggctgggaca gtggatgatg taccaaagct tcagcctcat ccgggattgg agaagaaaga
      841 agaggaagaa gaagaagaag aatatgatga agggtctaat ctcaaaaaac agaccaataa
      901 gaaccgggtg cagtcaggcc cccgcacacc caacccctat gcctcggaca acagcagcct
      961 catgtttccc atcctggtgg ccttcggagt cttcattcca accctcttct gcctctgccg
     1021 gttgtgagaa caaatgacta tcctgaacag ggtggagggg tgtgggaaag aaaccagcca
     1081 tattggtttt ggtttctgta tttttcacaa tgattaatga acaaaaacaa agagaaaaaa
     1141 acacacatca attaaaggag acaaaaagag gcagagcgag tagagagcag ccctcattca
     1201 ccacctggtc ccagacgtgc ttcagtcctc gtcctctctt tgtggctggc tcccagcctt
     1261 ctctttcctc ttgaggatac ttagggtaaa ctggatcctt cctgctcaag gatcctcatt
     1321 tgtataccta gtggaaagga ctctgaactc agaggagtca ctgttccttt ttttaggtta
     1381 gaaattaaca gcagggaaat gccatcttat tacctgagac gaccagcact gggagttagg
     1441 tacggtctga agttatgtct agataagact tcagacgtcc tgggattgaa agaatgtgtg
     1501 tgaaggggta gaatttgtgc ggtaaagact taaaaaaaaa agtagggaga ttaaaaaaaa
     1561 agaaagaaaa tgcttcctta tctggaagcc tttctggatt aatccagtga tggtcccacc
     1621 tttagtgttt gagctttgtc attgcttgtc tccctggcat gtgccagtta tagactgtcc
     1681 agcatccaag acgtttcggt tatgtcgggt cctcagatcg cctctgactt gttaccacaa
     1741 caaatcattt tgatttcagt gcctgttggg gacttgattt cttctcagtt ttgtttgttt
     1801 gtttgtttcc ttaatctggc tcatttgaaa tttcttctcc ctctcaacca tcccactaag
     1861 ttatagccaa gaagggaagg agacacgggg atttggggtt ctctgcttga atgtcttctc
     1921 ctttaccacc tcaccttgtt ggtacctccc tccctggatc tctgagccag cagccaggag
     1981 gacctgaccc agcagttctt tactggcccc tttgtagggc cttgctgcca gggggcaggg
     2041 atgctttcca gcctgcagca acagaacact tgaccttaaa agtctcttct ggtctttgga
     2101 ttagaaaagg cttatgttag catagcttaa gagcaacctc agagatttga gccctactaa
     2161 gtgactgacc actgtttaga gtgtctggta tctgatgttc atttattccc atgttcttgt
     2221 gtgtcacagt tcagccagtt ttggtttatg cctagagcta cttcaaggaa ctagactaat
     2281 tagctatata ggcccagcga tgcttcttat tgatcttaat agtatgcccc tccttcccct
     2341 gtcctttcat ttctctatcc aagtagcagt caggttcttg gtgtgatggg actgaaagaa
     2401 ttccagtcag ccagagcctt ggcagctctg aagctaacct tagcatctaa gtgtcgatct
     2461 tgaattccct gaaaaaattt ctataggaaa tgaagcttcc ctggtcccct cctttctggc
     2521 cattgtcatc catttcccag ttagggcaac aatgaaggag gacccagcca agctagaagg
     2581 aattttgtgg atgggagaca gcaggattag cttcagcttg ggctggagca gtcaatatag
     2641 gatctcaggc caggcccgct tttctagaat gtgtttaatt ttgagtttgc tttattagat
     2701 atgtttttta agagctctgt atatttgaac tgctccttat gtgacaaaat aggtagctct
     2761 tgggctcatg tcctgggttt tggctcttta atgattactc caggccagca tttagtcgtt
     2821 tgagaattgt agcctgttgt tttcgctgtg acttgggtct cagtgctagg gtattgagtc
     2881 aggcagctgg agggttgtgg cccgaggctg cagtcagagg tatacttccc atagtgcttc
     2941 acacagctcc cctgcttcta aaggataagg tactgtagcc ttggtcctgg ggaccacctg
     3001 cctggggcag tggacatcct aactaaacag gcttctggca gtagctttgg ttcctatccc
     3061 atcgaaattc cccaaagccc tgggccactg ccattgggtt agtcaagatg aaggaggagg
     3121 actggctgcc tccattttgc cttgtttgtt agtttgcctg ggtctgtctg aggaaggagg
     3181 gggtcccgcc ttccacctca acacatccct tcagtgactc agagtctcag aaggaaaccc
     3241 tgactcctgg ggccatttcc taatggtact gtaagccaag cagctttgct tctgcctctg
     3301 tttccaagcc cacccttttc ccctgagctc agggttaggg atgggcgctt tcctctctgg
     3361 ttgtgaacga aaggaaggaa catctttcta tggctaacaa aaactaaagg ggaagtgagg
     3421 aaacaggaag aagtatggtg ggggctgggg tagactcccc tggagccaag cctatccagc
     3481 taacaagagc tccctggggc tggtcacagc tggctcatga tgctgaactt gaaagttttt
     3541 ttgtttttgt ttttgttttg tggctcctcc aagatatagg tacatgaagt ttaggttaaa
     3601 ggggtgggat tctttatttt tatttttgta ttgtatgtgt caagaattac tctgttgttc
     3661 accttttgct ttttgcactg tttgttctct tatctgtatt ttgagcttag tgctaggact
     3721 gagaggctgc accataggga atgtatggga gatggtgagg ggtgccagtg aggggtgcgt
     3781 ggaggagagg cctgggctcc tctactggat ctacactctg tcccaggttt ttagatccca
     3841 ctgagcccag ctgactgaaa acaaggacag tcagggtgaa acttcttttg ccagaagtgt
     3901 ggcctgagtt gaatttctgg gaggatgacg cagatgtctg ctgcagagct gggctgagag
     3961 ttctgcagtc tagctctgac ttaggtcagg ggcctgttgg tctctcattg gacgtttttg
     4021 ggtctcactc atgcttactg aaacattgtg ccaagaaact ctgtgggatt tgtgtccctt
     4081 aaaccagact cacttttctg aaaaatctcc attgttgagg agaggctgct caatcgacac
     4141 cccgagttct catgactggg aagatagttt tcttcaggtg tcaatggcgt tagactccca
     4201 ggaagactag ccctgcccac agggccacct gttggtttga gagcgtgttc gtgttctctt
     4261 gccctccctg cctaagagct actgggatca cgttagcggg catttaggct ttgatgagag
     4321 ggcacagttt gagttaggtt tacctccccc tttctgtgcc tgggaactgt ttggtccagc
     4381 tttagaactg tggttttgac ttccttatct cttgggagaa gcttctgttt taaggaattt
     4441 ctcttccttc ttctcctgcc tctagcctct cctggaaagg cctggatatg gtttctaaaa
     4501 tctcagctga gaacttcaga aaacagcagc agtattttcc ttttcctagt gctaaaatcc
     4561 ctttccctag aaattggctc accttgggaa acccagggaa agaatcagca ggttctctgc
     4621 cctccctagg ggttggggaa ggacccaccc cggtcagcac agtgcctttt cctctcctgc
     4681 tctgagccag ggtggggcat tccctctaga ttcaggtttg ggcaggggtc ctatagtccc
     4741 tgccatgggg ctgcttccct gtcccttccc tcccctttgc tggcctactc tggcataatt
     4801 caagtgtctt cttgccttgg ggatccttag tggcatcaaa tggcaacatg gaatattgtc
     4861 ctccatgccc ctccagaagg acctaggaga gtaggtgagc tttccaaagt gagagacgaa
     4921 tctttctttc tttttttttt taaagggcag gatgggtatg ctttgggctt tctccttctg
     4981 tggccccgga ggaaggagag actgaggcaa ggcaaagtga tagtacacgg aagcagaacc
     5041 ggaaacaccc aggaactgtt cagaaatctc agaagaaatc tgcttctctt cgatggaaag
     5101 atataattaa cgatcaaaga gctctaagaa aattgcaaag aagccttaat gttcaagctt
     5161 tagaaagatc agagcaattt ttctctttca gtccaaacta agactctctg tatttaaatc
     5221 tctctggggc aagagggcta gatttcctca ttttgttatg agactagatt ggtaccagta
     5281 gatcagctgc ctagcgaggg caggtttctt ctttgcatct gtgtggcttg cttccagtct
     5341 ggcctgtcct ttccagctgc cttttgtcta gcctgctatg gggggccaga ttatcttgat
     5401 aagagcaggt gatttgggga ctagctgggt tggcaggaaa agagcaggat ggatctcttg
     5461 ggacaggttc ccccaggagt ataaacacaa ggagccagga ttgtgctggc agccaaggaa
     5521 acagtagtgc ctgtttgagt tggcagagag ggccttggca cctcttgcat ccaggcagtc
     5581 ttgtgagatg ggggcacata gcactgggga aagcagaact ccattctcac ctctattttg
     5641 agcttcagtg ctttatttca gtatgaggaa aaacaacaac aaactgaagt gcgctttccg
     5701 tcctttcaaa ggacaactgt cgggaaggga gagccgagtt gcgaggtagg aggggagcac
     5761 tggcagggag agacattctt gactcctctc ttccctggtg tgttgtgatc cagggaatga
     5821 aaagaaattt gaccctggat tggttctctc cttggactta aggaatctta ccttttcctt
     5881 ccacaaagtt ctcccaggca aggaccagct gcccattctg agcccagggc agcctcttca
     5941 accattattg gtctaacctg gcttgtcagg aaaccaagcc cacccttcca cattgggcct
     6001 ggctgctcta ttctgtacca agtactggag aaaaagcatc aagttcttag cccttgtagc
     6061 ttctacccta gtttcccatc ctctctctgt ggaggccaaa ccaactcttt gccagcagcc
     6121 acaacatgca ttgacagcgg cacagtgaga tataactgat gggctttgaa cctggttggc
     6181 cggggaagct gtaggggtgg atagagctgg ctttccttct gggctgtctc catctgaccc
     6241 taccccttcc atgtcccacc ccactcccac caaaaagtac aaaatcagga tgtttttcac
     6301 tgtccattgc tttgtgtttt aataaacaat ttgcagtgac a
//
