LOCUS       NM_005570               4824 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens lectin, mannose binding 1 (LMAN1), mRNA.
ACCESSION   NM_005570
VERSION     NM_005570.4
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 4824)
  AUTHORS   Miller,M.H., Swaby,L.G., Vailoces,V.S., LaFratta,M., Zhang,Y.,
            Zhu,X., Hitchcock,D.J., Jewett,T.J., Zhang,B. and
            Tigno-Aranjuez,J.T.
  TITLE     LMAN1 is a receptor for house dust mite allergens
  JOURNAL   Cell Rep 42 (3), 112208 (2023)
   PUBMED   36870056
  REMARK    GeneRIF: LMAN1 is a receptor for house dust mite allergens.
REFERENCE   2  (bases 1 to 4824)
  AUTHORS   Zhang,Y., Zhu,M., Zheng,C., Wei,W., Emmer,B.T. and Zhang,B.
  TITLE     LMAN1-MCFD2 complex is a cargo receptor for the ER-Golgi transport
            of alpha1-antitrypsin
  JOURNAL   Biochem J 479 (7), 839-855 (2022)
   PUBMED   35322856
  REMARK    GeneRIF: LMAN1-MCFD2 complex is a cargo receptor for the ER-Golgi
            transport of alpha1-antitrypsin.
REFERENCE   3  (bases 1 to 4824)
  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   4  (bases 1 to 4824)
  AUTHORS   Donkervoort,S., Krause,N., Dergai,M., Yun,P., Koliwer,J.,
            Gorokhova,S., Geist Hauserman,J., Cummings,B.B., Hu,Y., Smith,R.,
            Uapinyoying,P., Ganesh,V.S., Ghosh,P.S., Monaghan,K.G.,
            Edassery,S.L., Ferle,P.E., Silverstein,S., Chao,K.R., Snyder,M.,
            Ellingwood,S., Bharucha-Goebel,D., Iannaccone,S.T., Dal Peraro,M.,
            Foley,A.R., Savas,J.N., Bolduc,V., Fasshauer,D., Bonnemann,C.G. and
            Schwake,M.
  TITLE     BET1 variants establish impaired vesicular transport as a cause for
            muscular dystrophy with epilepsy
  JOURNAL   EMBO Mol Med 13 (12), e13787 (2021)
   PUBMED   34779586
REFERENCE   5  (bases 1 to 4824)
  AUTHORS   Wigren,E., Bourhis,J.M., Kursula,I., Guy,J.E. and Lindqvist,Y.
  TITLE     Crystal structure of the LMAN1-CRD/MCFD2 transport receptor complex
            provides insight into combined deficiency of factor V and factor
            VIII
  JOURNAL   FEBS Lett 584 (5), 878-882 (2010)
   PUBMED   20138881
  REMARK    GeneRIF: Data present the crystal structure of the LMAN1/MCFD2
            complex and relate it to patient mutations. Circular dichroism data
            show that the majority of the substitution mutations give rise to a
            disordered or severely destabilized MCFD2 protein.
REFERENCE   6  (bases 1 to 4824)
  AUTHORS   Neerman-Arbez,M., Antonarakis,S.E., Blouin,J.L., Zeinali,S.,
            Akhtari,M., Afshar,Y. and Tuddenham,E.G.
  TITLE     The locus for combined factor V-factor VIII deficiency (F5F8D) maps
            to 18q21, between D18S849 and D18S1103
  JOURNAL   Am J Hum Genet 61 (1), 143-150 (1997)
   PUBMED   9245995
REFERENCE   7  (bases 1 to 4824)
  AUTHORS   Arar,C., Mignon,C., Mattei,M., Monsigny,M., Roche,A. and Legrand,A.
  TITLE     Mapping of the MR60/ERGIC-53 gene to human chromosome 18q21.3-18q22
            by in situ hybridization
  JOURNAL   Mamm Genome 7 (10), 791-792 (1996)
   PUBMED   8854877
REFERENCE   8  (bases 1 to 4824)
  AUTHORS   Arar,C., Carpentier,V., Le Caer,J.P., Monsigny,M., Legrand,A. and
            Roche,A.C.
  TITLE     ERGIC-53, a membrane protein of the endoplasmic reticulum-Golgi
            intermediate compartment, is identical to MR60, an intracellular
            mannose-specific lectin of myelomonocytic cells
  JOURNAL   J Biol Chem 270 (8), 3551-3553 (1995)
   PUBMED   7876089
REFERENCE   9  (bases 1 to 4824)
  AUTHORS   Fiedler,K. and Simons,K.
  TITLE     A putative novel class of animal lectins in the secretory pathway
            homologous to leguminous lectins
  JOURNAL   Cell 77 (5), 625-626 (1994)
   PUBMED   8205612
REFERENCE   10 (bases 1 to 4824)
  AUTHORS   Schindler,R., Itin,C., Zerial,M., Lottspeich,F. and Hauri,H.P.
  TITLE     ERGIC-53, a membrane protein of the ER-Golgi intermediate
            compartment, carries an ER retention motif
  JOURNAL   Eur J Cell Biol 61 (1), 1-9 (1993)
   PUBMED   8223692
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC308886.1, BC032330.1,
            U09716.1, AC016229.10, AC067859.7, AK025773.1 and AI280513.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_005570.3.
            
            Summary: The protein encoded by this gene is a membrane
            mannose-specific lectin that cycles between the endoplasmic
            reticulum, endoplasmic reticulum-Golgi intermediate compartment,
            and cis-Golgi, functioning as a cargo receptor for glycoprotein
            transport. The protein has an N-terminal signal sequence, a
            calcium-dependent and pH-sensitive carbohydrate recognition domain,
            a stalk region that functions in oligomerization, a transmembrane
            domain, and a short cytoplasmic domain required for organelle
            targeting. Allelic variants of this gene are associated with the
            autosomal recessive disorder combined factor V-factor VIII
            deficiency. [provided by RefSeq, Jul 2015].
            
            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 :: SRR1660803.186437.1,
                                           SRR1660805.147759.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000251047.6/ ENSP00000251047.4
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-15                DC308886.1         12-26
            16-1248             BC032330.1         10-1242
            1249-1801           U09716.1           1248-1800
            1802-2834           AC016229.10        142752-143784
            2835-3686           AC067859.7         194758-195609       c
            3687-4482           AK025773.1         1010-1805
            4483-4824           AI280513.1         14-355              c
FEATURES             Location/Qualifiers
     source          1..4824
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="18"
                     /map="18q21.32"
     gene            1..4824
                     /gene="LMAN1"
                     /gene_synonym="ERGIC-53; ERGIC53; F5F8D; FMFD1; gp58;
                     MCFD1; MR60"
                     /note="lectin, mannose binding 1"
                     /db_xref="GeneID:3998"
                     /db_xref="HGNC:HGNC:6631"
                     /db_xref="MIM:601567"
     exon            1..235
                     /gene="LMAN1"
                     /gene_synonym="ERGIC-53; ERGIC53; F5F8D; FMFD1; gp58;
                     MCFD1; MR60"
                     /inference="alignment:Splign:2.1.0"
     CDS             22..1554
                     /gene="LMAN1"
                     /gene_synonym="ERGIC-53; ERGIC53; F5F8D; FMFD1; gp58;
                     MCFD1; MR60"
                     /note="endoplasmic reticulum-golgi intermediate
                     compartment protein 53; protein ERGIC-53; intracellular
                     mannose-specific lectin MR60; ER-Golgi intermediate
                     compartment 53 kDa protein"
                     /codon_start=1
                     /product="protein ERGIC-53 precursor"
                     /protein_id="NP_005561.1"
                     /db_xref="CCDS:CCDS11974.1"
                     /db_xref="GeneID:3998"
                     /db_xref="HGNC:HGNC:6631"
                     /db_xref="MIM:601567"
                     /translation="MAGSRQRGLRARVRPLFCALLLSLGRFVRGDGVGGDPAVALPHR
                     RFEYKYSFKGPHLVQSDGTVPFWAHAGNAIPSSDQIRVAPSLKSQRGSVWTKTKAAFE
                     NWEVEVTFRVTGRGRIGADGLAIWYAENQGLEGPVFGSADLWNGVGIFFDSFDNDGKK
                     NNPAIVIIGNNGQIHYDHQNDGASQALASCQRDFRNKPYPVRAKITYYQNTLTVMINN
                     GFTPDKNDYEFCAKVENMIIPAQGHFGISAATGGLADDHDVLSFLTFQLTEPGKEPPT
                     PDKEISEKEKEKYQEEFEHFQQELDKKKEEFQKGHPDLQGQPAEEIFESVGDRELRQV
                     FEGQNRIHLEIKQLNRQLDMILDEQRRYVSSLTEEISKRGAGMPGQHGQITQQELDTV
                     VKTQHEILRQVNEMKNSMSETVRLVSGMQHPGSAGGVYETTQHFIDIKEHLHIVKRDI
                     DNLVQRNMPSNEKPKCPELPPFPSCLSTVHFIIFVVVQTVLFIGYIMYRSQQEAAAKK
                     FF"
     exon            236..390
                     /gene="LMAN1"
                     /gene_synonym="ERGIC-53; ERGIC53; F5F8D; FMFD1; gp58;
                     MCFD1; MR60"
                     /inference="alignment:Splign:2.1.0"
     exon            391..498
                     /gene="LMAN1"
                     /gene_synonym="ERGIC-53; ERGIC53; F5F8D; FMFD1; gp58;
                     MCFD1; MR60"
                     /inference="alignment:Splign:2.1.0"
     exon            499..560
                     /gene="LMAN1"
                     /gene_synonym="ERGIC-53; ERGIC53; F5F8D; FMFD1; gp58;
                     MCFD1; MR60"
                     /inference="alignment:Splign:2.1.0"
     exon            561..660
                     /gene="LMAN1"
                     /gene_synonym="ERGIC-53; ERGIC53; F5F8D; FMFD1; gp58;
                     MCFD1; MR60"
                     /inference="alignment:Splign:2.1.0"
     exon            661..784
                     /gene="LMAN1"
                     /gene_synonym="ERGIC-53; ERGIC53; F5F8D; FMFD1; gp58;
                     MCFD1; MR60"
                     /inference="alignment:Splign:2.1.0"
     exon            785..843
                     /gene="LMAN1"
                     /gene_synonym="ERGIC-53; ERGIC53; F5F8D; FMFD1; gp58;
                     MCFD1; MR60"
                     /inference="alignment:Splign:2.1.0"
     exon            844..976
                     /gene="LMAN1"
                     /gene_synonym="ERGIC-53; ERGIC53; F5F8D; FMFD1; gp58;
                     MCFD1; MR60"
                     /inference="alignment:Splign:2.1.0"
     exon            977..1170
                     /gene="LMAN1"
                     /gene_synonym="ERGIC-53; ERGIC53; F5F8D; FMFD1; gp58;
                     MCFD1; MR60"
                     /inference="alignment:Splign:2.1.0"
     exon            1171..1241
                     /gene="LMAN1"
                     /gene_synonym="ERGIC-53; ERGIC53; F5F8D; FMFD1; gp58;
                     MCFD1; MR60"
                     /inference="alignment:Splign:2.1.0"
     exon            1242..1395
                     /gene="LMAN1"
                     /gene_synonym="ERGIC-53; ERGIC53; F5F8D; FMFD1; gp58;
                     MCFD1; MR60"
                     /inference="alignment:Splign:2.1.0"
     exon            1396..1517
                     /gene="LMAN1"
                     /gene_synonym="ERGIC-53; ERGIC53; F5F8D; FMFD1; gp58;
                     MCFD1; MR60"
                     /inference="alignment:Splign:2.1.0"
     exon            1518..4824
                     /gene="LMAN1"
                     /gene_synonym="ERGIC-53; ERGIC53; F5F8D; FMFD1; gp58;
                     MCFD1; MR60"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4807..4812
                     /regulatory_class="polyA_signal_sequence"
                     /gene="LMAN1"
                     /gene_synonym="ERGIC-53; ERGIC53; F5F8D; FMFD1; gp58;
                     MCFD1; MR60"
                     /note="hexamer: AAGAAA"
     polyA_site      4824
                     /gene="LMAN1"
                     /gene_synonym="ERGIC-53; ERGIC53; F5F8D; FMFD1; gp58;
                     MCFD1; MR60"
                     /note="major polyA site"
ORIGIN      
        1 ctccgcgttc cagaatccaa gatggcggga tccaggcaaa ggggtctccg ggccagagtt
       61 cggccgctgt tctgcgcctt gctgctgtca ctcggtcgct tcgtccgggg cgacggcgtg
      121 ggaggagacc ccgcggtcgc gttgccacat cgccgtttcg agtacaaata cagcttcaag
      181 gggccgcacc tggtgcagag cgacgggacc gtgcccttct gggcccacgc ggggaatgct
      241 attccaagtt cagatcaaat tcgagtagca ccatctttaa aaagccaaag aggctcagtg
      301 tggacaaaga caaaagcggc ctttgagaac tgggaagttg aggtgacatt tcgagtgact
      361 ggaagaggtc gaattggagc tgatggccta gcaatttggt atgcagaaaa tcaaggcttg
      421 gagggccctg tgtttggatc agctgatctg tggaatggtg ttggaatatt ttttgattct
      481 tttgacaatg atggaaagaa aaataatcct gctatagtaa ttataggcaa caatggacaa
      541 atccattatg accatcaaaa tgacggggct agtcaagctt tggcaagttg ccagagggac
      601 ttccgcaaca aaccctatcc tgtccgagca aagattacct attaccagaa cacactgaca
      661 gtaatgatca ataatggctt tacaccagat aaaaatgatt atgaattttg tgccaaagtg
      721 gaaaatatga ttatccctgc acaagggcat tttggaatat ctgctgcaac tggaggtctt
      781 gcagatgacc atgatgtcct ttcttttctg actttccagt tgactgaacc tggaaaagag
      841 ccgcccacac cagataaaga aatttcggaa aaggaaaaag aaaagtatca ggaggaattt
      901 gagcactttc aacaagaatt ggataaaaaa aaagaggaat tccagaaggg ccaccccgac
      961 ctccaagggc agcctgcgga ggaaatattt gagagtgtag gagatcgaga gctaagacaa
     1021 gtctttgaag gacagaatcg tattcatctt gaaatcaagc agctgaaccg gcagttagat
     1081 atgattcttg atgaacagag aagatatgtc tcttccttaa cagaggaaat ctctaaaaga
     1141 ggagcaggaa tgcctgggca gcatgggcag attactcaac aagaactgga tactgttgtg
     1201 aaaactcagc atgagattct gagacaagta aatgaaatga aaaattccat gagtgaaacc
     1261 gtcagactgg tcagtggaat gcagcaccct ggctctgctg gaggcgtcta tgagacaaca
     1321 cagcacttca ttgacatcaa agagcacctg cacatagtaa agagggacat agataactta
     1381 gtgcagcgaa atatgccatc aaatgaaaag ccgaaatgcc cagaactacc accatttcca
     1441 tcatgtttgt ctacggtcca cttcattata tttgttgtgg tgcaaactgt attattcatt
     1501 ggttatatca tgtataggtc tcagcaagaa gcagctgcca aaaaattctt ttgactacca
     1561 ttttcctgtg tacttcatct atttgtgtac aaaatgatgt cgttttgagg gaatttaagt
     1621 atttaaattg cttcatagtc taaattatta attttcttaa taaaataact gtttaaacat
     1681 tgatttgcag ttaagaataa accttaaagc aaagacaacc acattttaat ttgttcacag
     1741 tatgtaaatc tgtctaaatt tcagtgaatt tctggtcagt atgatgcagc ctctgagcag
     1801 aatattgacc agtaagaggg taaataaagt gggggcaacc cctggatatg aatgttaccc
     1861 cctaagtctc caatattgca ggtttccctg tataacgtaa acacacttgc cctcatgcct
     1921 cccagaatat gaggtctaat taagaagtcc catcaggttt attttgtaac caaagtcttt
     1981 tttagaggtc agacttccta atcaaaggcc tgggcctgca gtcctttcat cttaatgcaa
     2041 cttcctttga aatcaaagaa tattttgtct gagagcttta aggatctggt aatagacttc
     2101 aaaatgttaa gtgaaatttt tttttcctct atttatcaat gatatatttc acttttaaag
     2161 gaaattttag aggaaaatta atagctgctt tttgcctaaa aaaccttgtg ggtggaaaca
     2221 ttcctctgag aatggctttt ataggtattt tgcctggtaa tgtattcatt catgattgcc
     2281 catattcttg aatgtcttca ttccaatggg gtcaggtcaa tattatgaaa ataattttta
     2341 tatttatatt tgtaacttaa ggaatttatt tctcccttta ctacagcatg taaattcagc
     2401 tcaaattgca tgatctgagg atttaaattc acaaaacctg ccactacatt ctggtttaca
     2461 ttagttactt catgctggct ggggttagtg accatttgca tactctttta aatcaaggag
     2521 gctgtagtag aagcagtttt aagattcttg aaggcaaaat ttgaaaaaca gtgaatactt
     2581 ctaattgttt ccttttagtg ccagaactaa ggacattgtg aagcacttgt tagtaaactt
     2641 aaccttgaaa tgtcagactg gaaggagttt ttatagtctt tgtgcatact tctaggtatt
     2701 acagaaacag tctgtaaatg acattttaag atgcaaattt aattctgttc acagctgatt
     2761 tatactgatt tttgctgcct tcaaaatact cttttacttc ttttagctaa aatggttgtc
     2821 tttcatttgc catagaattc caaacaatac tatcttataa aatagtactg ttgaattatt
     2881 ccaagcctcc ctaggtttgc tctcaaatgt catttacaga ttgggctaac gacctaaaat
     2941 ctatatataa agactttctg aagaactctg tattatagca ataccaaacg agtgctgtgt
     3001 gtgcaaacag tctggcgttg ctttttatgt tgatatttat cctagaacac tgaaagagaa
     3061 tatgccagtg ataactcact ttacttcagt catttcaaca cagaaaatgc ttctctagca
     3121 tttttctttt gtagtgttaa cattttgaaa ttcatgtttc agaggcttca tcatcacaga
     3181 atttactctt gctccatgaa aaaaaattaa ataccttcag aggaatattt aagttgtaaa
     3241 ctatgaaact tgagaaatcc tcttgagata aaaggctgcc aaatccagta ttataaagtc
     3301 catggtcata tgtgcctgtg cattaaagga ataccagatc tatgcagtat acatttttca
     3361 ggctgaaatt caaggggaat cattctgatt attcttacta caaatggaga tggctattat
     3421 gaaacagcat gagcatgagc cttttatctt ttatacttag tgatatactt tgcttgaaaa
     3481 tcactcagca aagtagttca catgatgtgt atcatatttg aagtgtggtt tttctcaaaa
     3541 tcattgactt taaggagctc atttctgaac aaaaaggttt gctctgtgga aaaatcaatc
     3601 actgccagga ttctttcatt tctgtactat tttgtataat tgaatttgtt cacttctctc
     3661 acaccagcaa gtgttttaca ggtgccttgg attaaaacaa aattgatttt aaaattttta
     3721 tgtaagtcat tgtgtctatg atgccacttt taaaaggaaa atgcaattgc gtaatggctt
     3781 atatccttat ttaatgtacc tatttgtgtt ctaataattg tttgaatgtt ttattcagct
     3841 taaaacttta ccatgaagtc ataaacagta aacaatgttt tgttatgtat taaggggata
     3901 tcagtgtttc tcaaagtatg atccatggac catctgggtc atggcgcctg gtttcagaca
     3961 acctgaatca aatcttaggg gtggggcttt gggatgtcat tgttcaatag gcacctcagg
     4021 agattctgag cacaccaatg tttgagaacc actaaaatga ggagtgggaa aaaaaaaata
     4081 ggtgttttgt taatttagag ctgagctgag aagataatat atttttattg tcaatgacat
     4141 taacagatat gcactgattc ttttatacct acaatttact taatgttcct tttattaaaa
     4201 cgcgtggttc atgagcaact acagactgaa tccagattat tacctgttgc tttcagtatt
     4261 ttcgtgatgg cttttaatct tatgaaatca tcttgagatc attcatggtc aagccatgaa
     4321 aactcccatc ttcaagcctg cctgctaaag cttctttgcc ttcctgattg tgattatggt
     4381 aacaatttat atcagacagt tgtacttttt gataacttag ggaaaacaga aatgacttga
     4441 acaagggatt gcctgcctca ctgcattgca gagatacaat ttttgtaaag aacacaaata
     4501 gcagttgtga atattaaggt gtgattatct ttccctgtcc atgtgcttat tgaaagaaga
     4561 tagtgaacaa atgattatat tgaggatttt tttaatttat aagatctaat gtgaaatcca
     4621 cacttggaac tttttagatc tgtctgttgc ttgtttaata tatttctttt atgacattac
     4681 ttaaagttta aaagggtttt ctatccactg tcaatttcaa ttggataaca ttttgtcaag
     4741 tttttttttt cctgattatt tgatgctagc tggaattcaa gaaatggcat tgaccttatt
     4801 caaataaaga aatattttag taaa
//
