Seroatlas · Human Serome Atlas

RETREG1

Reticulophagy regulator 1

Also known as: FAM134B, FLJ20152, JK1, RETR1_HUMAN

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

Protein identityUniProt · HPA

UniProt accession
Q9H6L5
Gene
RETREG1
Ensembl
ENSG00000154153
Chromosome
5
Canonical length
497 aa
Protein class
Disease related genes, Human disease related genes, Potential drug targets, Predicted intracellular proteins, Predicted membrane proteins, Transporters
Subcellular location
Endoplasmic reticulum
Quaternary structure
Homooligomer

OverviewNCBI Gene

The protein encoded by this gene is a cis-Golgi transmembrane protein that may be necessary for the long-term survival of nociceptive and autonomic ganglion neurons. Mutations in this gene are a cause of hereditary sensory and autonomic neuropathy type IIB (HSAN IIB), and this gene may also play a role in susceptibility to vascular dementia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]

Canonical amino-acid sequenceUniProt

497 residues, UniProt reviewed canonical sequence.

>Q9H6L5|RETREG1
     1  MASPAPPEHA EEGCPAPAAE EQAPPSPPPP QASPAERQQQ EEEAQEAGAA EGAGLQVEEA
    61  AGRAAAAVTW LLGEPVLWLG CRADELLSWK RPLRSLLGFV AANLLFWFLA LTPWRVYHLI
   121  SVMILGRVIM QIIKDMVLSR TRGAQLWRSL SESWEVINSK PDERPRLSHC IAESWMNFSI
   181  FLQEMSLFKQ QSPGKFCLLV CSVCTFFTIL GSYIPGVILS YLLLLCAFLC PLFKCNDIGQ
   241  KIYSKIKSVL LKLDFGIGEY INQKKRERSE ADKEKSHKDD SELDFSALCP KISLTVAAKE
   301  LSVSDTDVSE VSWTDNGTFN LSEGYTPQTD TSDDLDRPSE EVFSRDLSDF PSLENGMGTN
   361  DEDELSLGLP TELKRKKEQL DSGHRPSKET QSAAGLTLPL NSDQTFHLMS NLAGDVITAA
   421  VTAAIKDQLE GVQQALSQAA PIPEEDTDTE EGDDFELLDQ SELDQIESEL GLTQDQEAEA
   481  QQNKKSSGFL SNLLGGH

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against RETREG1 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)
0.58
Highest tissue expression
118 nTPM

Expression across tissuesHPA

Tissue

  • skeletal muscle: 118 nTPM
  • heart muscle: 94 nTPM
  • tongue: 82 nTPM
  • kidney: 60 nTPM
  • liver: 45 nTPM
  • testis: 39 nTPM

Single-cell type

  • late spermatids: 1,221 nCPM
  • thymic myoid cells: 874 nCPM
  • podocytes: 806 nCPM
  • early spermatids: 798 nCPM
  • endometrial glandular cells: 526 nCPM
  • epididymal efferent duct absorptive cells: 437 nCPM

Immune cell

  • basophil: 9.4 nTPM
  • naive CD4 T-cell: 8.8 nTPM
  • T-reg: 5.6 nTPM
  • naive CD8 T-cell: 5.3 nTPM
  • neutrophil: 3.3 nTPM
  • memory CD4 T-cell: 3.1 nTPM

Brain region

  • white matter: 75 nTPM
  • pons: 54 nTPM
  • medulla oblongata: 52 nTPM
  • basal ganglia: 50 nTPM
  • cerebral cortex: 46 nTPM
  • midbrain: 46 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about RETREG1.

Disease | AllUniProt

Conditions RETREG1 is implicated in, by any mechanism.

  • Neuropathy, hereditary sensory and autonomic, 2B (HSAN2B) MIM:613115

Disease | GeneticClinVar

25 pathogenic / likely-pathogenic of 530 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)
0.86
gnomAD pLI
0
DepMap mean gene effect
0.04
DepMap dependency class
none

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 RETREG1 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 RETREG1 as an antibody target. Whether an autoantibody or antibody against RETREG1 could matter depends on whether native RETREG1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

RETREG1 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 RETREG1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/RETREG1. 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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