GFER
FAD-linked sulfhydryl oxidase ALR
Also known as: ALR, ALR_HUMAN, ERV1, HERV1, HPO1, HPO2, HSS
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- P55789
- Gene
- GFER
- Ensembl
- ENSG00000127554
- Chromosome
- 16
- Canonical length
- 205 aa
- Protein class
- Disease related genes, Enzymes, Potential drug targets, Predicted intracellular proteins, Predicted secreted proteins
- Subcellular location
- Mitochondria,Cytosol
- Secretome location
- Secreted to blood
- Quaternary structure
- Homodimer
OverviewNCBI Gene
The hepatotrophic factor designated augmenter of liver regeneration (ALR) is thought to be one of the factors responsible for the extraordinary regenerative capacity of mammalian liver. It has also been called hepatic regenerative stimulation substance (HSS). The gene resides on chromosome 16 in the interval containing the locus for polycystic kidney disease (PKD1). The putative gene product is 42% similar to the scERV1 protein of yeast. The yeast scERV1 gene had been found to be essential for oxidative phosphorylation, the maintenance of mitochondrial genomes, and the cell division cycle. The human gene is both the structural and functional homolog of the yeast scERV1 gene. [provided by RefSeq, Jul 2008]
Canonical amino-acid sequenceUniProt
205 residues, UniProt reviewed canonical sequence.
>P55789|GFER
1 MAAPGERGRF HGGNLFFLPG GARSEMMDDL ATDARGRGAG RRDAAASAST PAQAPTSDSP
61 VAEDASRRRP CRACVDFKTW MRTQQKRDTK FREDCPPDRE ELGRHSWAVL HTLAAYYPDL
121 PTPEQQQDMA QFIHLFSKFY PCEECAEDLR KRLCRNHPDT RTRACFTQWL CHLHNEVNRK
181 LGKPDFDCSK VDERWRDGWK DGSCDLocalizationUniProt · AlphaFold · HPA
Whether an antibody against GFER 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
- Secreted
- Secreted
- Yes
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.49
- Highest tissue expression
- 50 nTPM
Expression across tissuesHPA
Tissue
- pancreas: 50 nTPM
- liver: 43 nTPM
- skeletal muscle: 37 nTPM
- testis: 35 nTPM
- small intestine: 34 nTPM
- colon: 30 nTPM
Single-cell type
- enterocytes: 336 nCPM
- early spermatids: 206 nCPM
- late spermatids: 166 nCPM
- colonocytes: 150 nCPM
- late primary spermatocytes: 85 nCPM
- esophageal apical cells: 78 nCPM
Immune cell
- T-reg: 21 nTPM
- memory B-cell: 21 nTPM
- naive B-cell: 15 nTPM
- memory CD8 T-cell: 15 nTPM
- non-classical monocyte: 14 nTPM
- classical monocyte: 13 nTPM
Brain region
- cerebellum: 22 nTPM
- medulla oblongata: 22 nTPM
- pons: 21 nTPM
- thalamus: 20 nTPM
- cerebral cortex: 20 nTPM
- white matter: 19 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about GFER.
Disease | AllUniProt
Conditions GFER is implicated in, by any mechanism.
- Myopathy, mitochondrial progressive, with congenital cataract, hearing loss and developmental delay (MPMCD) MIM:613076
Disease | GeneticClinVar
9 pathogenic / likely-pathogenic of 184 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome
- Inborn genetic diseases
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)
- 1.65
- gnomAD pLI
- 0
- gnomAD missense Z
- -0.2
- DepMap mean gene effect
- -0.67
- DepMap dependency class
- common
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
Molecular functions
- flavin adenine dinucleotide binding
- flavin-dependent sulfhydryl oxidase activity
- growth factor activity
- protein-disulfide reductase activity
Cellular components
Protein domainsUniProt · Pfam · InterPro
- ERV/ALR sulfhydryl oxidase domain
- ERV/ALR sulfhydryl oxidase domain superfamily
- Erv1 / Alr family
- Sulfhydryl oxidase ALR/ERV
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of GFER 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 GFER as an antibody target. Whether an autoantibody or antibody against GFER could matter depends on whether native GFER is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
GFER is annotated as secreted, so native GFER circulates and is directly accessible to antibodies. Secreted and cell-surface proteins are the autoantibody targets most likely to act like drugs, blocking or depleting the native protein.
Annotation status
The present source text does not explicitly label GFER as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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