LOCUS       NM_030805               2398 bp    mRNA    linear   PRI 07-APR-2024
DEFINITION  Homo sapiens lectin, mannose binding 2 like (LMAN2L), transcript
            variant 2, mRNA.
ACCESSION   NM_030805 NM_032660
VERSION     NM_030805.4
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 2398)
  AUTHORS   Haenig,C., Atias,N., Taylor,A.K., Mazza,A., Schaefer,M.H., Russ,J.,
            Riechers,S.P., Jain,S., Coughlin,M., Fontaine,J.F., Freibaum,B.D.,
            Brusendorf,L., Zenkner,M., Porras,P., Stroedicke,M., Schnoegl,S.,
            Arnsburg,K., Boeddrich,A., Pigazzini,L., Heutink,P., Taylor,J.P.,
            Kirstein,J., Andrade-Navarro,M.A., Sharan,R. and Wanker,E.E.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   2  (bases 1 to 2398)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (bases 1 to 2398)
  AUTHORS   Alkhater,R.A., Wang,P., Ruggieri,A., Israelian,L., Walker,S.,
            Scherer,S.W., Smith,M.L. and Minassian,B.A.
  TITLE     Dominant LMAN2L mutation causes intellectual disability with
            remitting epilepsy
  JOURNAL   Ann Clin Transl Neurol 6 (4), 807-811 (2019)
   PUBMED   31020005
  REMARK    GeneRIF: segregate a NM_001142292.1:c.1073delT mutation that
            eliminates LMAN2L's endoplasmic reticulum retention signal and
            mislocalizes the protein from that compartment to the plasma
            membrane
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2398)
  AUTHORS   Rafiullah,R., Aslamkhan,M., Paramasivam,N., Thiel,C., Mustafa,G.,
            Wiemann,S., Schlesner,M., Wade,R.C., Rappold,G.A. and Berkel,S.
  TITLE     Homozygous missense mutation in the LMAN2L gene segregates with
            intellectual disability in a large consanguineous Pakistani family
  JOURNAL   J Med Genet 53 (2), 138-144 (2016)
   PUBMED   26566883
  REMARK    GeneRIF: Homozygous missense mutation p.R53Q in the LMAN2L gene
            causes autosomal recessive intellectual disability and seizures.
REFERENCE   5  (bases 1 to 2398)
  AUTHORS   Lim,C.H., Zain,S.M., Reynolds,G.P., Zain,M.A., Roffeei,S.N.,
            Zainal,N.Z., Kanagasundram,S. and Mohamed,Z.
  TITLE     Genetic association of LMAN2L gene in schizophrenia and bipolar
            disorder and its interaction with ANK3 gene polymorphism
  JOURNAL   Prog Neuropsychopharmacol Biol Psychiatry 54, 157-162 (2014)
   PUBMED   24914473
  REMARK    GeneRIF: Study showed a significant association between LMAN2L and
            risk of both bipolar disorder and schizophrenia
REFERENCE   6  (bases 1 to 2398)
  AUTHORS   Kamiya,Y., Kamiya,D., Yamamoto,K., Nyfeler,B., Hauri,H.P. and
            Kato,K.
  TITLE     Molecular basis of sugar recognition by the human L-type lectins
            ERGIC-53, VIPL, and VIP36
  JOURNAL   J Biol Chem 283 (4), 1857-1861 (2008)
   PUBMED   18025080
  REMARK    GeneRIF: selective interaction of VIPL and VIP36 with the
            deglucosylated trimannose in the D1 branch of high-mannose-type
            oligosaccharides but with different pH dependence.
REFERENCE   7  (bases 1 to 2398)
  AUTHORS   Neve,E.P., Svensson,K., Fuxe,J. and Pettersson,R.F.
  TITLE     VIPL, a VIP36-like membrane protein with a putative function in the
            export of glycoproteins from the endoplasmic reticulum
  JOURNAL   Exp Cell Res 288 (1), 70-83 (2003)
   PUBMED   12878160
  REMARK    GeneRIF: VIPL terminates in the sequence KRFY, characteristic for
            proteins recycling between the ER and ERGIC/cis-Golgi; and
            knock-down of VIPL mRNA slowed secretion of two glycoproteins (35
            and 250 kDa), suggesting that VIPL may function as an ER export
            receptor.
REFERENCE   8  (bases 1 to 2398)
  AUTHORS   Nufer,O., Mitrovic,S. and Hauri,H.P.
  TITLE     Profile-based data base scanning for animal L-type lectins and
            characterization of VIPL, a novel VIP36-like endoplasmic reticulum
            protein
  JOURNAL   J Biol Chem 278 (18), 15886-15896 (2003)
   PUBMED   12609988
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK310100.1 and BC000347.2.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Feb 27, 2020 this sequence version replaced NM_030805.3.
            
            Summary: This gene encodes a protein belonging to the L-type lectin
            group of type 1 membrane proteins, which function in the mammalian
            early secretory pathway. These proteins contain luminal
            carbohydrate recognition domains, which display homology to
            leguminous lectins. Unlike other proteins of the group, which cycle
            in the early secretory pathway and are predominantly associated
            with post endoplasmic reticulum membranes, the protein encoded by
            this gene is a non-cycling resident protein of the ER, where it
            functions as a cargo receptor for glycoproteins. It is proposed to
            regulate exchange of folded proteins for transport to the Golgi and
            exchange of misfolded glycoproteins for transport to the
            ubiquitin-proteasome pathway. [provided by RefSeq, Apr 2016].
            
            ##Evidence-Data-START##
            Transcript exon combination :: AL136617.1, AY358929.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000264963.9/ ENSP00000264963.4
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-25                AK310100.1         30-54
            26-2398             BC000347.2         1-2373
FEATURES             Location/Qualifiers
     source          1..2398
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q11.2"
     gene            1..2398
                     /gene="LMAN2L"
                     /gene_synonym="MRD69; MRT52; VIPL"
                     /note="lectin, mannose binding 2 like"
                     /db_xref="GeneID:81562"
                     /db_xref="HGNC:HGNC:19263"
                     /db_xref="MIM:609552"
     exon            1..211
                     /gene="LMAN2L"
                     /gene_synonym="MRD69; MRT52; VIPL"
                     /inference="alignment:Splign:2.1.0"
     CDS             25..1071
                     /gene="LMAN2L"
                     /gene_synonym="MRD69; MRT52; VIPL"
                     /note="isoform 2 precursor is encoded by transcript
                     variant 2; VIP36-like protein; LMAN2-like protein"
                     /codon_start=1
                     /product="VIP36-like protein isoform 2 precursor"
                     /protein_id="NP_110432.1"
                     /db_xref="CCDS:CCDS2023.1"
                     /db_xref="GeneID:81562"
                     /db_xref="HGNC:HGNC:19263"
                     /db_xref="MIM:609552"
                     /translation="MAATLGPLGSWQQWRRCLSARDGSRMLLLLLLLGSGQGPQQVGA
                     GQTFEYLKREHSLSKPYQGVGTGSSSLWNLMGNAMVMTQYIRLTPDMQSKQGALWNRV
                     PCFLRDWELQVHFKIHGQGKKNLHGDGLAIWYTKDRMQPGPVFGNMDKFVGLGVFVDT
                     YPNEEKQQERVFPYISAMVNNGSLSYDHERDGRPTELGGCTAIVRNLHYDTFLVIRYV
                     KRHLTIMMDIDGKHEWRDCIEVPGVRLPRGYYFGTSSITGDLSDNHDVISLKLFELTV
                     ERTPEEEKLHRDVFLPSVDNMKLPEMTAPLPPLSGLALFLIVFFSLVFSVFAIVIGII
                     LYNKWQEQSRKRFY"
     exon            212..330
                     /gene="LMAN2L"
                     /gene_synonym="MRD69; MRT52; VIPL"
                     /inference="alignment:Splign:2.1.0"
     exon            331..448
                     /gene="LMAN2L"
                     /gene_synonym="MRD69; MRT52; VIPL"
                     /inference="alignment:Splign:2.1.0"
     exon            449..531
                     /gene="LMAN2L"
                     /gene_synonym="MRD69; MRT52; VIPL"
                     /inference="alignment:Splign:2.1.0"
     exon            532..693
                     /gene="LMAN2L"
                     /gene_synonym="MRD69; MRT52; VIPL"
                     /inference="alignment:Splign:2.1.0"
     exon            694..808
                     /gene="LMAN2L"
                     /gene_synonym="MRD69; MRT52; VIPL"
                     /inference="alignment:Splign:2.1.0"
     exon            809..928
                     /gene="LMAN2L"
                     /gene_synonym="MRD69; MRT52; VIPL"
                     /inference="alignment:Splign:2.1.0"
     exon            929..2398
                     /gene="LMAN2L"
                     /gene_synonym="MRD69; MRT52; VIPL"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2366..2371
                     /regulatory_class="polyA_signal_sequence"
                     /gene="LMAN2L"
                     /gene_synonym="MRD69; MRT52; VIPL"
                     /note="hexamer: AATGAA"
     polyA_site      2398
                     /gene="LMAN2L"
                     /gene_synonym="MRD69; MRT52; VIPL"
                     /note="major polyA site"
ORIGIN      
        1 gatgaagggt cgttggtggg aaagatggcg gcgactctgg gaccccttgg gtcgtggcag
       61 cagtggcggc gatgtttgtc ggctcgggat gggtccagga tgttactcct tcttcttttg
      121 ttggggtctg ggcaggggcc acagcaagtc ggggcgggtc aaacgttcga gtacttgaaa
      181 cgggagcact cgctgtcgaa gccctaccag ggtgtgggca caggcagttc ctcactgtgg
      241 aatctgatgg gcaatgccat ggtgatgacc cagtatatcc gccttacccc agatatgcaa
      301 agtaaacagg gtgccttgtg gaaccgggtg ccatgtttcc tgagagactg ggagttgcag
      361 gtgcacttca aaatccatgg acaaggaaag aagaatctgc atggggatgg cttggcaatc
      421 tggtacacaa aggatcggat gcagccaggg cctgtgtttg gaaacatgga caaatttgtg
      481 gggctgggag tatttgtaga cacctacccc aatgaggaga agcagcaaga gcgggtattc
      541 ccctacatct cagccatggt gaacaacggc tccctcagct atgatcatga gcgggatggg
      601 cggcctacag agctgggagg ctgcacagcc attgtccgca atcttcatta cgacaccttc
      661 ctggtgattc gctacgtcaa gaggcatttg acgataatga tggatattga tggcaagcat
      721 gagtggaggg actgcattga agtgcccgga gtccgcctgc cccgcggcta ctacttcggc
      781 acctcctcca tcactgggga tctctcagat aatcatgatg tcatttcctt gaagttgttt
      841 gaactgacag tggagagaac cccagaagag gaaaagctcc atcgagatgt gttcttgccc
      901 tcagtggaca atatgaagct gcctgagatg acagctccac tgccgcccct gagtggcctg
      961 gccctcttcc tcatcgtctt tttctccctg gtgttttctg tatttgccat agtcattggt
     1021 atcatactct acaacaaatg gcaggaacag agccgaaagc gcttctactg agccctcctg
     1081 ctgccaccac ttttgtgact gtcacccatg aggtatggaa ggagcaggca ctggcctgag
     1141 catgcagcct ggagagtgtt cttgtctcta gcagctggtt ggggactata ttctgtcact
     1201 ggagttttga atgcagggac cccgcattcc catggttgtg catggggaca tctaactctg
     1261 gtctgggaag ccacccaccc cagggcaatg ctgctgtgat gtgcctttcc ctgcagtcct
     1321 tccatgtggg agcagaggtg tgaagagaat ttacgtggtt gtgatgccaa aatcacagaa
     1381 cagaatttca tagcccaggc tgccgtgttg tttgactcag aaggcccttc tacttcagtt
     1441 ttgaatccac aaagaattaa aaactggtaa caccacaggc tttctgacca tccattcgtt
     1501 gggttttgca tttgacccaa ccctctgcct acctgaggag ctttctttgg aaaccaggat
     1561 ggaaacttct tccctgcctt accttccttt cactccattc attgtcctct ctgtgtgcaa
     1621 cctgagctgg gaaaggcatt tggatgcctc tctgttgggg cctggggctg cagaacacac
     1681 ctgcgtttca ctggccttca ttaggtggcc ctagggagat ggctttctgc tttggatcac
     1741 tgttccctag catgggtctt gggtctattg gcatgtccat ggccttccca atcaagtctc
     1801 ttcaggccct cagtgaagtt tggctaaagg ttggtgtaaa aatcaagaga agcctggaag
     1861 acatcatgga tgccatggat tagctgtgca actgaccagc tccaggtttg atcaaaccaa
     1921 aagcaacatt tgtcatgtgg tctgaccatg tggagatgtt tctggacttg ctagagcctg
     1981 cttagctgca tgttttgtag ttacgatttt tggaatccca ctttgagtgc tgaaagtgta
     2041 aggaagcttt cttcttacac cttgggcttg gatattgccc agagaagaaa tttggctttt
     2101 tttttcttaa tggacaagag acagttgctg ttctcatgtt ccaagtctga gagcaacaga
     2161 ccctcatcat ctgtgcctgg aagagttcac tgtcattgag cagcacagcc tgagtgctgg
     2221 cctctgtcaa cccttattcc actgccttat ttgacaaggg gttacatgct gctcacctta
     2281 ctgccctggg attaaatcag ttacaggcca gagtctcctt ggagggcctg gaactctgag
     2341 tcctcctatg aacctctgta gcctaaatga aattcttaaa atcaccgatg gaaccaaa
//
