Seroatlas · Human Serome Atlas

UNC119

Protein unc-119 homolog A

Also known as: HRG4, POC7, POC7A, U119A_HUMAN

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

Protein identityUniProt · HPA

UniProt accession
Q13432
Gene
UNC119
Ensembl
ENSG00000109103
Chromosome
17
Canonical length
240 aa
Protein class
Disease related genes, Human disease related genes, Predicted intracellular proteins

OverviewNCBI Gene

This gene is specifically expressed in the photoreceptors in the retina. The encoded product shares strong homology with the C. elegans unc119 protein and it can functionally complement the C. elegans unc119 mutation. It has been localized to the photoreceptor synapses in the outer plexiform layer of the retina, and suggested to play a role in the mechanism of photoreceptor neurotransmitter release through the synaptic vesicle cycle. Two transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

240 residues, UniProt reviewed canonical sequence.

>Q13432|UNC119
     1  MKVKKGGGGA GTATESAPGP SGQSVAPIPQ PPAESESGSE SEPDAGPGPR PGPLQRKQPI
    61  GPEDVLGLQR ITGDYLCSPE ENIYKIDFVR FKIRDMDSGT VLFEIKKPPV SERLPINRRD
   121  LDPNAGRFVR YQFTPAFLRL RQVGATVEFT VGDKPVNNFR MIERHYFRNQ LLKSFDFHFG
   181  FCIPSSKNTC EHIYDFPPLS EELISEMIRH PYETQSDSFY FVDDRLVMHN KADYSYSGTP

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against UNC119 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)
0.4
Highest tissue expression
1,085 nTPM

Expression across tissuesHPA

Tissue

  • retina: 1,085 nTPM
  • choroid plexus: 66 nTPM
  • spleen: 55 nTPM
  • testis: 53 nTPM
  • bone marrow: 53 nTPM
  • cerebral cortex: 47 nTPM

Single-cell type

  • other brain neurons: 17 nCPM
  • choroid plexus epithelial cells: 15 nCPM
  • rod photoreceptor cells: 12 nCPM
  • brain inhibitory neurons: 11 nCPM
  • brain excitatory neurons: 10 nCPM
  • microglia: 9.9 nCPM

Immune cell

  • non-classical monocyte: 213 nTPM
  • neutrophil: 132 nTPM
  • intermediate monocyte: 122 nTPM
  • eosinophil: 121 nTPM
  • plasmacytoid DC: 94 nTPM
  • myeloid DC: 82 nTPM

Brain region

  • choroid plexus: 51 nTPM
  • cerebral cortex: 49 nTPM
  • hypothalamus: 43 nTPM
  • pons: 40 nTPM
  • hippocampal formation: 40 nTPM
  • medulla oblongata: 39 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about UNC119.

Disease | AllUniProt

Conditions UNC119 is implicated in, by any mechanism.

Disease | GeneticClinVar

1 pathogenic / likely-pathogenic of 252 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Macular dystrophy
  • Cone-rod dystrophy 24

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)
1.33
gnomAD pLI
0
gnomAD missense Z
0.93
DepMap mean gene effect
-0.35
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

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of UNC119 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 UNC119 as an antibody target. Whether an autoantibody or antibody against UNC119 could matter depends on whether native UNC119 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

UNC119 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 UNC119 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/UNC119. 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).

© 2026 · Seroatlas, Discover Oregon LLC · Terms of use

Loading the interactive Seroatlas protein explorer...