Seroatlas · Human Serome Atlas

LMAN1

Protein ERGIC-53

Also known as: ERGIC-53, ERGIC53, F5F8D, FMFD1, gp58, LMAN1_HUMAN, MCFD1, MR60

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
P49257
Gene
LMAN1
Ensembl
ENSG00000074695
Chromosome
18
Canonical length
510 aa
Protein class
Disease related genes, Human disease related genes, Potential drug targets, Predicted membrane proteins, Transporters
Subcellular location
Endoplasmic reticulum,Vesicles
Quaternary structure
Homohexamer

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

510 residues, UniProt reviewed canonical sequence.

>P49257|LMAN1
     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

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against LMAN1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability
Other membrane
Secreted
No
Transmembrane segments
1
Mean surface accessibility (rSASA)
0.41
Highest tissue expression
169 nTPM

Expression across tissuesHPA

Tissue

  • liver: 169 nTPM
  • thyroid gland: 81 nTPM
  • parathyroid gland: 70 nTPM
  • salivary gland: 65 nTPM
  • cervix: 62 nTPM
  • kidney: 60 nTPM

Single-cell type

  • plasma cells: 575 nCPM
  • hepatocytes: 476 nCPM
  • extravillous trophoblasts: 428 nCPM
  • esophageal apical cells: 346 nCPM
  • parietal cells: 302 nCPM
  • syncytiotrophoblasts: 281 nCPM

Immune cell

  • MAIT T-cell: 10 nTPM
  • NK-cell: 10 nTPM
  • T-reg: 9.6 nTPM
  • plasmacytoid DC: 8.8 nTPM
  • memory CD4 T-cell: 7.9 nTPM
  • memory CD8 T-cell: 7.7 nTPM

Brain region

  • choroid plexus: 31 nTPM
  • white matter: 31 nTPM
  • hypothalamus: 30 nTPM
  • medulla oblongata: 26 nTPM
  • cerebellum: 24 nTPM
  • thalamus: 23 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about LMAN1.

Disease | AllUniProt

Conditions LMAN1 is implicated in, by any mechanism.

  • Factor V and factor VIII combined deficiency 1 (F5F8D1) MIM:227300

Disease | GeneticClinVar

15 pathogenic / likely-pathogenic of 236 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)
0.55
gnomAD pLI
0
gnomAD missense Z
0.06
DepMap mean gene effect
0.04
DepMap dependency class
none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of LMAN1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads LMAN1 as an antibody target. Whether an autoantibody or antibody against LMAN1 could matter depends on whether native LMAN1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

LMAN1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label LMAN1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/LMAN1. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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