LMA1L_HUMAN
ID LMA1L_HUMAN Reviewed; 526 AA.
AC Q9HAT1; Q6UWN2;
DT 27-MAY-2002, integrated into UniProtKB/Swiss-Prot.
DT 15-MAR-2005, sequence version 2.
DT 03-AUG-2022, entry version 149.
DE RecName: Full=Protein ERGIC-53-like;
DE AltName: Full=ERGIC53-like protein;
DE AltName: Full=Lectin mannose-binding 1-like;
DE Short=LMAN1-like protein;
DE Flags: Precursor;
GN Name=LMAN1L; Synonyms=ERGL; ORFNames=UNQ2784/PRO7174;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY, AND ALTERNATIVE
RP SPLICING.
RX PubMed=11255007; DOI=10.1016/s0378-1119(01)00347-x;
RA Yerushalmi N., Keppler-Hafkemeyer A., Vasmatzis G., Liu X.-F., Olsson P.,
RA Bera T.K., Duray P., Lee B., Pastan I.;
RT "ERGL, a novel gene related to ERGIC-53 that is highly expressed in normal
RT and neoplastic prostate and several other tissues.";
RL Gene 265:55-60(2001).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
RX PubMed=12975309; DOI=10.1101/gr.1293003;
RA Clark H.F., Gurney A.L., Abaya E., Baker K., Baldwin D.T., Brush J.,
RA Chen J., Chow B., Chui C., Crowley C., Currell B., Deuel B., Dowd P.,
RA Eaton D., Foster J.S., Grimaldi C., Gu Q., Hass P.E., Heldens S., Huang A.,
RA Kim H.S., Klimowski L., Jin Y., Johnson S., Lee J., Lewis L., Liao D.,
RA Mark M.R., Robbie E., Sanchez C., Schoenfeld J., Seshagiri S., Simmons L.,
RA Singh J., Smith V., Stinson J., Vagts A., Vandlen R.L., Watanabe C.,
RA Wieand D., Woods K., Xie M.-H., Yansura D.G., Yi S., Yu G., Yuan J.,
RA Zhang M., Zhang Z., Goddard A.D., Wood W.I., Godowski P.J., Gray A.M.;
RT "The secreted protein discovery initiative (SPDI), a large-scale effort to
RT identify novel human secreted and transmembrane proteins: a bioinformatics
RT assessment.";
RL Genome Res. 13:2265-2270(2003).
CC -!- SUBCELLULAR LOCATION: Endoplasmic reticulum-Golgi intermediate
CC compartment membrane {ECO:0000250}; Single-pass type I membrane protein
CC {ECO:0000250}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q9HAT1-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9HAT1-2; Sequence=Not described;
CC Name=3;
CC IsoId=Q9HAT1-3; Sequence=VSP_013143;
CC -!- TISSUE SPECIFICITY: Highly expressed in normal and neoplastic prostate.
CC Also expressed in cardiac atrium, salivary gland, spleen and selective
CC cells in the CNS. {ECO:0000269|PubMed:11255007}.
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DR EMBL; AF303398; AAG30902.1; -; mRNA.
DR EMBL; AY358724; AAQ89086.1; -; mRNA.
DR CCDS; CCDS10270.1; -. [Q9HAT1-1]
DR RefSeq; NP_068591.2; NM_021819.2. [Q9HAT1-1]
DR AlphaFoldDB; Q9HAT1; -.
DR SMR; Q9HAT1; -.
DR BioGRID; 122860; 20.
DR IntAct; Q9HAT1; 1.
DR STRING; 9606.ENSP00000310431; -.
DR GlyGen; Q9HAT1; 1 site.
DR iPTMnet; Q9HAT1; -.
DR PhosphoSitePlus; Q9HAT1; -.
DR BioMuta; LMAN1L; -.
DR DMDM; 61252672; -.
DR MassIVE; Q9HAT1; -.
DR PaxDb; Q9HAT1; -.
DR PeptideAtlas; Q9HAT1; -.
DR PRIDE; Q9HAT1; -.
DR ProteomicsDB; 81427; -. [Q9HAT1-1]
DR ProteomicsDB; 81428; -. [Q9HAT1-3]
DR Antibodypedia; 55435; 106 antibodies from 17 providers.
DR DNASU; 79748; -.
DR Ensembl; ENST00000309664.10; ENSP00000310431.5; ENSG00000140506.17. [Q9HAT1-1]
DR Ensembl; ENST00000379709.7; ENSP00000369031.3; ENSG00000140506.17. [Q9HAT1-3]
DR GeneID; 79748; -.
DR KEGG; hsa:79748; -.
DR MANE-Select; ENST00000309664.10; ENSP00000310431.5; NM_021819.3; NP_068591.2.
DR UCSC; uc002ayt.2; human. [Q9HAT1-1]
DR CTD; 79748; -.
DR DisGeNET; 79748; -.
DR GeneCards; LMAN1L; -.
DR HGNC; HGNC:6632; LMAN1L.
DR HPA; ENSG00000140506; Tissue enhanced (heart muscle, lymphoid tissue, prostate, salivary gland).
DR MIM; 609548; gene.
DR neXtProt; NX_Q9HAT1; -.
DR OpenTargets; ENSG00000140506; -.
DR PharmGKB; PA30400; -.
DR VEuPathDB; HostDB:ENSG00000140506; -.
DR eggNOG; KOG3838; Eukaryota.
DR GeneTree; ENSGT00940000161890; -.
DR HOGENOM; CLU_041093_4_1_1; -.
DR InParanoid; Q9HAT1; -.
DR OMA; MAMWYTQ; -.
DR OrthoDB; 1377709at2759; -.
DR PhylomeDB; Q9HAT1; -.
DR TreeFam; TF313311; -.
DR PathwayCommons; Q9HAT1; -.
DR Reactome; R-HSA-204005; COPII-mediated vesicle transport.
DR Reactome; R-HSA-5694530; Cargo concentration in the ER.
DR SignaLink; Q9HAT1; -.
DR BioGRID-ORCS; 79748; 12 hits in 1058 CRISPR screens.
DR ChiTaRS; LMAN1L; human.
DR GenomeRNAi; 79748; -.
DR Pharos; Q9HAT1; Tbio.
DR PRO; PR:Q9HAT1; -.
DR Proteomes; UP000005640; Chromosome 15.
DR RNAct; Q9HAT1; protein.
DR Bgee; ENSG00000140506; Expressed in right atrium auricular region and 76 other tissues.
DR ExpressionAtlas; Q9HAT1; baseline and differential.
DR Genevisible; Q9HAT1; HS.
DR GO; GO:0062023; C:collagen-containing extracellular matrix; HDA:BHF-UCL.
DR GO; GO:0030134; C:COPII-coated ER to Golgi transport vesicle; IBA:GO_Central.
DR GO; GO:0005789; C:endoplasmic reticulum membrane; IBA:GO_Central.
DR GO; GO:0005793; C:endoplasmic reticulum-Golgi intermediate compartment; IBA:GO_Central.
DR GO; GO:0033116; C:endoplasmic reticulum-Golgi intermediate compartment membrane; IEA:UniProtKB-SubCell.
DR GO; GO:0000139; C:Golgi membrane; IBA:GO_Central.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0005537; F:mannose binding; IBA:GO_Central.
DR GO; GO:0007029; P:endoplasmic reticulum organization; IBA:GO_Central.
DR GO; GO:0006888; P:endoplasmic reticulum to Golgi vesicle-mediated transport; IBA:GO_Central.
DR GO; GO:0007030; P:Golgi organization; IBA:GO_Central.
DR InterPro; IPR013320; ConA-like_dom_sf.
DR InterPro; IPR005052; Lectin_leg.
DR Pfam; PF03388; Lectin_leg-like; 1.
DR SUPFAM; SSF49899; SSF49899; 1.
DR PROSITE; PS51328; L_LECTIN_LIKE; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; Disulfide bond; Glycoprotein; Lectin; Membrane;
KW Reference proteome; Signal; Transmembrane; Transmembrane helix.
FT SIGNAL 1..25
FT /evidence="ECO:0000255"
FT CHAIN 26..526
FT /note="Protein ERGIC-53-like"
FT /id="PRO_0000017663"
FT TOPO_DOM 26..462
FT /note="Lumenal"
FT /evidence="ECO:0000255"
FT TRANSMEM 463..483
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 484..526
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT DOMAIN 31..252
FT /note="L-type lectin-like"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00658"
FT CARBOHYD 75
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT DISULFID 176..215
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00658"
FT VAR_SEQ 240..258
FT /note="DDHDVLSFLTFSLSEPSPE -> GEDPTGQ (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:12975309"
FT /id="VSP_013143"
FT VARIANT 105
FT /note="R -> Q (in dbSNP:rs3803568)"
FT /id="VAR_049771"
FT VARIANT 517
FT /note="R -> S (in dbSNP:rs1060480)"
FT /id="VAR_049772"
FT CONFLICT 108
FT /note="Q -> H (in Ref. 1; AAG30902)"
FT /evidence="ECO:0000305"
FT CONFLICT 186
FT /note="P -> S (in Ref. 2; AAQ89086)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 526 AA; 57129 MW; B36B81827D219F9E CRC64;
MPAVSGPGPL FCLLLLLLDP HSPETGCPPL RRFEYKLSFK GPRLALPGAG IPFWSHHGDA
ILGLEEVRLT PSMRNRSGAV WSRASVPFSA WEVEVQMRVT GLGRRGAQGM AVWYTRGRGH
VGSVLGGLAS WDGIGIFFDS PAEDTQDSPA IRVLASDGHI PSEQPGDGAS QGLGSCHWDF
RNRPHPFRAR ITYWGQRLRM SLNSGLTPSD PGEFCVDVGP LLLVPGGFFG VSAATGTLAD
DHDVLSFLTF SLSEPSPEVP PQPFLEMQQL RLARQLEGLW ARLGLGTRED VTPKSDSEAQ
GEGERLFDLE ETLGRHRRIL QALRGLSKQL AQAERQWKKQ LGPPGQARPD GGWALDASCQ
IPSTPGRGGH LSMSLNKDSA KVGALLHGQW TLLQALQEMR DAAVRMAAEA QVSYLPVGIE
HHFLELDHIL GLLQEELRGP AKAAAKAPRP PGQPPRASSC LQPGIFLFYL LIQTVGFFGY
VHFRQELNKS LQECLSTGSL PLGPAPHTPR ALGILRRQPL PASMPA
