Seroatlas · Human Serome Atlas

EGLN1

Egl nine homolog 1

Also known as: C1orf12, EGLN1_HUMAN, HIFPH2, PHD2, SM-20, ZMYND6

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

Protein identityUniProt · HPA

UniProt accession
Q9GZT9
Gene
EGLN1
Ensembl
ENSG00000135766
Chromosome
1
Canonical length
426 aa
Protein class
Disease related genes, Enzymes, FDA approved drug targets, Human disease related genes, Plasma proteins, Predicted intracellular proteins
Subcellular location
Vesicles,Cytosol

OverviewNCBI Gene

The protein encoded by this gene catalyzes the post-translational formation of 4-hydroxyproline in hypoxia-inducible factor (HIF) alpha proteins. HIF is a transcriptional complex that plays a central role in mammalian oxygen homeostasis. This protein functions as a cellular oxygen sensor, and under normal oxygen concentration, modification by prolyl hydroxylation is a key regulatory event that targets HIF subunits for proteasomal destruction via the von Hippel-Lindau ubiquitylation complex. Mutations in this gene are associated with erythrocytosis familial type 3 (ECYT3). [provided by RefSeq, Nov 2009]

Canonical amino-acid sequenceUniProt

426 residues, UniProt reviewed canonical sequence.

>Q9GZT9|EGLN1
     1  MANDSGGPGG PSPSERDRQY CELCGKMENL LRCSRCRSSF YCCKEHQRQD WKKHKLVCQG
    61  SEGALGHGVG PHQHSGPAPP AAVPPPRAGA REPRKAAARR DNASGDAAKG KVKAKPPADP
   121  AAAASPCRAA AGGQGSAVAA EAEPGKEEPP ARSSLFQEKA NLYPPSNTPG DALSPGGGLR
   181  PNGQTKPLPA LKLALEYIVP CMNKHGICVV DDFLGKETGQ QIGDEVRALH DTGKFTDGQL
   241  VSQKSDSSKD IRGDKITWIE GKEPGCETIG LLMSSMDDLI RHCNGKLGSY KINGRTKAMV
   301  ACYPGNGTGY VRHVDNPNGD GRCVTCIYYL NKDWDAKVSG GILRIFPEGK AQFADIEPKF
   361  DRLLFFWSDR RNPHEVQPAY ATRYAITVWY FDADERARAK VKYLTGEKGV RVELNKPSDS
   421  VGKDVF

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against EGLN1 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)
0.46
Highest tissue expression
396 nTPM

Expression across tissuesHPA

Tissue

  • skeletal muscle: 396 nTPM
  • tongue: 143 nTPM
  • heart muscle: 55 nTPM
  • liver: 53 nTPM
  • adipose tissue: 49 nTPM
  • retina: 46 nTPM

Single-cell type

  • renal collecting duct intercalated cells: 168 nCPM
  • microglia: 96 nCPM
  • distal convoluted tubule cells: 95 nCPM
  • choroid plexus epithelial cells: 89 nCPM
  • renal collecting duct principal cells: 82 nCPM
  • proximal tubule cells: 72 nCPM

Immune cell

  • neutrophil: 29 nTPM
  • basophil: 4.3 nTPM
  • eosinophil: 3.2 nTPM
  • naive CD8 T-cell: 1.8 nTPM
  • non-classical monocyte: 1.8 nTPM
  • NK-cell: 1.7 nTPM

Brain region

  • thalamus: 71 nTPM
  • medulla oblongata: 65 nTPM
  • spinal cord: 65 nTPM
  • white matter: 62 nTPM
  • basal ganglia: 62 nTPM
  • hippocampal formation: 61 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about EGLN1.

Disease | AllUniProt

Conditions EGLN1 is implicated in, by any mechanism.

Disease | GeneticClinVar

15 pathogenic / likely-pathogenic of 1,319 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)
0.3
gnomAD pLI
0.97
gnomAD missense Z
2.15
DepMap mean gene effect
-0.15
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 9% 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 EGLN1 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 EGLN1 as an antibody target. Whether an autoantibody or antibody against EGLN1 could matter depends on whether native EGLN1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

EGLN1 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 EGLN1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/EGLN1. 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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