LOCUS       NP_005561                510 aa            linear   PRI 28-APR-2025
DEFINITION  protein ERGIC-53 precursor [Homo sapiens].
ACCESSION   NP_005561
VERSION     NP_005561.1
DBSOURCE    REFSEQ: accession 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  (residues 1 to 510)
  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  (residues 1 to 510)
  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  (residues 1 to 510)
  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  (residues 1 to 510)
  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  (residues 1 to 510)
  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  (residues 1 to 510)
  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  (residues 1 to 510)
  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  (residues 1 to 510)
  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  (residues 1 to 510)
  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 (residues 1 to 510)
  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.
            
            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##
FEATURES             Location/Qualifiers
     source          1..510
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="18"
                     /map="18q21.32"
     Protein         1..510
                     /product="protein ERGIC-53 precursor"
                     /note="endoplasmic reticulum-golgi intermediate
                     compartment protein 53; protein ERGIC-53; intracellular
                     mannose-specific lectin MR60; ER-Golgi intermediate
                     compartment 53 kDa protein"
                     /calculated_mol_wt=54209
     sig_peptide     1..30
                     /inference="COORDINATES: ab initio prediction:SignalP:6.0"
                     /calculated_mol_wt=3358
     mat_peptide     31..510
                     /product="protein ERGIC-53"
                     /calculated_mol_wt=54209
     Region          44..268
                     /region_name="lectin_ERGIC-53_ERGL"
                     /note="ERGIC-53 and ERGL type 1 transmembrane proteins,
                     N-terminal lectin domain; cd06902"
                     /db_xref="CDD:173890"
     Site            order(121,156,178,251..252)
                     /site_type="other"
                     /note="carbohydrate binding site [chemical binding]"
                     /db_xref="CDD:173890"
     Site            order(152,154..157,161..162,181)
                     /site_type="metal-binding"
                     /note="metal binding site [ion binding]"
                     /db_xref="CDD:173890"
     Site            425
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P49257.2)"
     Site            478..498
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P49257.2)"
     Region          499..510
                     /region_name="Mediates interaction with RAB3GAP1, RAB3GAP2
                     and UBXN6. /evidence=ECO:0000269|PubMed:22337587"
                     /note="propagated from UniProtKB/Swiss-Prot (P49257.2)"
     Site            501
                     /site_type="other"
                     /note="Required for ER export; propagated from
                     UniProtKB/Swiss-Prot (P49257.2)"
     Region          509..510
                     /region_name="ER export motif"
                     /note="propagated from UniProtKB/Swiss-Prot (P49257.2)"
     CDS             1..510
                     /gene="LMAN1"
                     /gene_synonym="ERGIC-53; ERGIC53; F5F8D; FMFD1; gp58;
                     MCFD1; MR60"
                     /coded_by="NM_005570.4:22..1554"
                     /db_xref="CCDS:CCDS11974.1"
                     /db_xref="GeneID:3998"
                     /db_xref="HGNC:HGNC:6631"
                     /db_xref="MIM:601567"
ORIGIN      
        1 magsrqrglr arvrplfcal llslgrfvrg dgvggdpava lphrrfeyky sfkgphlvqs
       61 dgtvpfwaha gnaipssdqi rvapslksqr gsvwtktkaa fenwevevtf rvtgrgriga
      121 dglaiwyaen qglegpvfgs adlwngvgif fdsfdndgkk nnpaiviign ngqihydhqn
      181 dgasqalasc qrdfrnkpyp vrakityyqn tltvminngf tpdkndyefc akvenmiipa
      241 qghfgisaat ggladdhdvl sfltfqltep gkepptpdke isekekekyq eefehfqqel
      301 dkkkeefqkg hpdlqgqpae eifesvgdre lrqvfegqnr ihleikqlnr qldmildeqr
      361 ryvsslteei skrgagmpgq hgqitqqeld tvvktqheil rqvnemknsm setvrlvsgm
      421 qhpgsaggvy ettqhfidik ehlhivkrdi dnlvqrnmps nekpkcpelp pfpsclstvh
      481 fiifvvvqtv lfigyimyrs qqeaaakkff
//
