Seroatlas · Human Serome Atlas

JAGN1

Protein jagunal homolog 1

Also known as: FLJ14602, GL009, JAGN1_HUMAN

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

Protein identityUniProt · HPA

UniProt accession
Q8N5M9
Gene
JAGN1
Ensembl
ENSG00000171135
Chromosome
3
Canonical length
183 aa
Protein class
Disease related genes, Human disease related genes, Predicted intracellular proteins, Predicted membrane proteins
Subcellular location
Vesicles

OverviewNCBI Gene

The protein encoded by this gene is a transmembrane protein. It functions in the early secretory pathway and is necessary for neutrophil differentiation and survival. Mutations in this gene result in severe congenital neutropenia. [provided by RefSeq, Oct 2014]

Canonical amino-acid sequenceUniProt

183 residues, UniProt reviewed canonical sequence.

>Q8N5M9|JAGN1
     1  MASRAGPRAA GTDGSDFQHR ERVAMHYQMS VTLKYEIKKL IYVHLVIWLL LVAKMSVGHL
    61  RLLSHDQVAM PYQWEYPYLL SILPSLLGLL SFPRNNISYL VLSMISMGLF SIAPLIYGSM
   121  EMFPAAQQLY RHGKAYRFLF GFSAVSIMYL VLVLAVQVHA WQLYYSKKLL DSWFTSTQEK
   181  KHK

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against JAGN1 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
4
Mean surface accessibility (rSASA)
0.33
Highest tissue expression
59 nTPM

Expression across tissuesHPA

Tissue

  • liver: 59 nTPM
  • adrenal gland: 49 nTPM
  • pancreas: 45 nTPM
  • skeletal muscle: 41 nTPM
  • epididymis: 38 nTPM
  • choroid plexus: 36 nTPM

Single-cell type

  • enterocytes: 115 nCPM
  • esophageal basal cells: 104 nCPM
  • extravillous trophoblasts: 100 nCPM
  • decidual stromal cells: 94 nCPM
  • cytotrophoblasts: 89 nCPM
  • esophageal suprabasal cells: 88 nCPM

Immune cell

  • basophil: 101 nTPM
  • total PBMC: 68 nTPM
  • classical monocyte: 62 nTPM
  • plasmacytoid DC: 58 nTPM
  • myeloid DC: 57 nTPM
  • T-reg: 55 nTPM

Brain region

  • choroid plexus: 21 nTPM
  • cerebellum: 19 nTPM
  • white matter: 18 nTPM
  • hypothalamus: 18 nTPM
  • spinal cord: 17 nTPM
  • thalamus: 17 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about JAGN1.

Disease | AllUniProt

Conditions JAGN1 is implicated in, by any mechanism.

  • Neutropenia, severe congenital 6, autosomal recessive (SCN6) MIM:616022

Disease | GeneticClinVar

4 pathogenic / likely-pathogenic of 168 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)
1.35
gnomAD pLI
0.01
gnomAD missense Z
0.06
DepMap mean gene effect
0.15
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

Cellular components

Protein domainsUniProt · Pfam · InterPro

  • Protein jagunal
  • Jagunal, ER re-organisation during oogenesis

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of JAGN1 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 JAGN1 as an antibody target. Whether an autoantibody or antibody against JAGN1 could matter depends on whether native JAGN1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

JAGN1 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 JAGN1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/JAGN1. 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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