ERGIC1
Endoplasmic reticulum-Golgi intermediate compartment protein 1
Also known as: ERGI1_HUMAN, ERGIC-32, ERGIC32, KIAA1181, NET24
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q969X5
- Gene
- ERGIC1
- Ensembl
- ENSG00000113719
- Chromosome
- 5
- Canonical length
- 290 aa
- Protein class
- Disease related genes, Human disease related genes, Predicted membrane proteins
- Subcellular location
- Nucleoplasm,Vesicles
OverviewNCBI Gene
This gene encodes a cycling membrane protein which is an endoplasmic reticulum-golgi intermediate compartment (ERGIC) protein which interacts with other members of this protein family to increase their turnover. [provided by RefSeq, Jul 2008]
Canonical amino-acid sequenceUniProt
290 residues, UniProt reviewed canonical sequence.
>Q969X5|ERGIC1
1 MPFDFRRFDI YRKVPKDLTQ PTYTGAIISI CCCLFILFLF LSELTGFITT EVVNELYVDD
61 PDKDSGGKID VSLNISLPNL HCELVGLDIQ DEMGRHEVGH IDNSMKIPLN NGAGCRFEGQ
121 FSINKVPGNF HVSTHSATAQ PQNPDMTHVI HKLSFGDTLQ VQNIHGAFNA LGGADRLTSN
181 PLASHDYILK IVPTVYEDKS GKQRYSYQYT VANKEYVAYS HTGRIIPAIW FRYDLSPITV
241 KYTERRQPLY RFITTICAII GGTFTVAGIL DSCIFTASEA WKKIQLGKMHLocalizationUniProt · AlphaFold · HPA
Whether an antibody against ERGIC1 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
- 2
- Mean surface accessibility (rSASA)
- 0.34
- Highest tissue expression
- 72 nTPM
Expression across tissuesHPA
Tissue
- liver: 72 nTPM
- stomach: 57 nTPM
- adrenal gland: 55 nTPM
- prostate: 55 nTPM
- skeletal muscle: 50 nTPM
- colon: 46 nTPM
Single-cell type
- neutrophils: 1,219 nCPM
- prostatic glandular cells: 470 nCPM
- hepatocytes: 339 nCPM
- alveolar cells type 1: 337 nCPM
- monocytes: 332 nCPM
- goblet cells: 329 nCPM
Immune cell
- neutrophil: 21 nTPM
- eosinophil: 14 nTPM
- non-classical monocyte: 11 nTPM
- NK-cell: 9.6 nTPM
- intermediate monocyte: 8.5 nTPM
- memory B-cell: 8.1 nTPM
Brain region
- thalamus: 39 nTPM
- medulla oblongata: 35 nTPM
- midbrain: 35 nTPM
- spinal cord: 34 nTPM
- white matter: 32 nTPM
- hippocampal formation: 30 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about ERGIC1.
Disease | AllUniProt
Conditions ERGIC1 is implicated in, by any mechanism.
- Arthrogryposis multiplex congenita 2, neurogenic type (AMC2) MIM:208100
Disease | GeneticClinVar
2 pathogenic / likely-pathogenic of 54 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)
- 0.47
- gnomAD pLI
- 0.65
- gnomAD missense Z
- 1.45
- DepMap mean gene effect
- 0.17
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- endoplasmic reticulum to Golgi vesicle-mediated transport
- retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of ERGIC1 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 ERGIC1 as an antibody target. Whether an autoantibody or antibody against ERGIC1 could matter depends on whether native ERGIC1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
ERGIC1 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 ERGIC1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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