Seroatlas · Human Serome Atlas

ERLEC1

Endoplasmic reticulum lectin 1

Also known as: C2orf30, CL25084, ERLEC_HUMAN, ERLECTIN, XTP3-B, XTP3TPB

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

Protein identityUniProt · HPA

UniProt accession: Q96DZ1
Gene: ERLEC1
Ensembl: ENSG00000068912
Chromosome: 2
Canonical length: 483 aa
Protein class: Predicted intracellular proteins, Transporters
Secretome location: Intracellular and membrane

OverviewNCBI Gene

This gene encodes a resident endoplasmic reticulum (ER) protein that functions in N-glycan recognition. This protein is thought to be involved in ER-associated degradation via its interaction with the membrane-associated ubiquitin ligase complex. It also functions as a regulator of multiple cellular stress-response pathways in a manner that promotes metastatic cell survival. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 21. [provided by RefSeq, Aug 2011]

Canonical amino-acid sequenceUniProt

483 residues, UniProt reviewed canonical sequence.

>Q96DZ1|ERLEC1
     1  MEEGGGGVRS LVPGGPVLLV LCGLLEASGG GRALPQLSDD IPFRVNWPGT EFSLPTTGVL
    61  YKEDNYVIMT TAHKEKYKCI LPLVTSGDEE EEKDYKGPNP RELLEPLFKQ SSCSYRIESY
   121  WTYEVCHGKH IRQYHEEKET GQKINIHEYY LGNMLAKNLL FEKEREAEEK EKSNEIPTKN
   181  IEGQMTPYYP VGMGNGTPCS LKQNRPRSST VMYICHPESK HEILSVAEVT TCEYEVVILT
   241  PLLCSHPKYR FRASPVNDIF CQSLPGSPFK PLTLRQLEQQ EEILRVPFRR NKEEDLQSTK
   301  EERFPAIHKS IAIGSQPVLT VGTTHISKLT DDQLIKEFLS GSYCFRGGVG WWKYEFCYGK
   361  HVHQYHEDKD SGKTSVVVGT WNQEEHIEWA KKNTARAYHL QDDGTQTVRM VSHFYGNGDI
   421  CDITDKPRQV TVKLKCKESD SPHAVTVYML EPHSCQYILG VESPVICKIL DTADENGLLS
   481  LPN

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ERLEC1 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: Intracellular
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.38
Highest tissue expression: 85 nTPM

Expression across tissuesHPA

Tissue

epididymis: 85 nTPM
prostate: 67 nTPM
thyroid gland: 67 nTPM
pancreas: 63 nTPM
cervix: 62 nTPM
parathyroid gland: 54 nTPM

Single-cell type

plasma cells: 464 nCPM
epididymal principal cells: 334 nCPM
syncytiotrophoblasts: 243 nCPM
late primary spermatocytes: 231 nCPM
alveolar cells type 2: 210 nCPM
corticotrophs: 191 nCPM

Immune cell

basophil: 78 nTPM
MAIT T-cell: 48 nTPM
NK-cell: 46 nTPM
plasmacytoid DC: 46 nTPM
gdT-cell: 45 nTPM
total PBMC: 44 nTPM

Brain region

choroid plexus: 47 nTPM
hypothalamus: 39 nTPM
cerebral cortex: 37 nTPM
midbrain: 31 nTPM
pons: 30 nTPM
thalamus: 29 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about ERLEC1.

Disease | GeneticClinVar

4 pathogenic / likely-pathogenic of 103 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Mandibular prognathia

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): 0.74
gnomAD pLI: 0
gnomAD missense Z: 0.64
DepMap mean gene effect: -0.04
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

unfolded protein binding

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of ERLEC1 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 ERLEC1 as an antibody target. Whether an autoantibody or antibody against ERLEC1 could matter depends on whether native ERLEC1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

ERLEC1 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 ERLEC1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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