Seroatlas · Human Serome Atlas

REEP6

Receptor expression-enhancing protein 6

Also known as: C19orf32, DP1L1, FLJ25383, REEP6_HUMAN, Yip2f

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

Protein identityUniProt · HPA

UniProt accession
Q96HR9
Gene
REEP6
Ensembl
ENSG00000115255
Chromosome
19
Canonical length
211 aa
Protein class
Disease related genes, Human disease related genes, Predicted membrane proteins
Subcellular location
Endoplasmic reticulum,Acrosome

OverviewNCBI Gene

The protein encoded by this gene may be involved in the transport of receptors from the endoplasmic reticulum (ER) to the cell surface. The encoded protein may also play a role in regulating ER membrane structure. This gene is required for the proper development of retinal rods and photoreceptors, with defects in this gene being associated with retinitis pigmentosa 77. [provided by RefSeq, May 2017]

Canonical amino-acid sequenceUniProt

211 residues, UniProt reviewed canonical sequence.

>Q96HR9|REEP6
     1  MDGLRQRVEH FLEQRNLVTE VLGALEAKTG VEKRYLAAGA VTLLSLYLLF GYGASLLCNL
    61  IGFVYPAYAS IKAIESPSKD DDTVWLTYWV VYALFGLAEF FSDLLLSWFP FYYVGKCAFL
   121  LFCMAPRPWN GALMLYQRVV RPLFLRHHGA VDRIMNDLSG RALDAAAGIT RNVLQVLARS
   181  RAGITPVAVA GPSTPLEADL KPSQTPQPKD K

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against REEP6 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
2
Mean surface accessibility (rSASA)
0.48
Highest tissue expression
523 nTPM

Expression across tissuesHPA

Tissue

  • liver: 523 nTPM
  • testis: 364 nTPM
  • duodenum: 205 nTPM
  • small intestine: 188 nTPM
  • adrenal gland: 113 nTPM
  • retina: 87 nTPM

Single-cell type

  • late spermatids: 5,758 nCPM
  • enterocytes: 820 nCPM
  • early spermatids: 653 nCPM
  • hepatocytes: 281 nCPM
  • granulosa cells: 194 nCPM
  • rod photoreceptor cells: 175 nCPM

Immune cell

  • gdT-cell: 5.5 nTPM
  • NK-cell: 5 nTPM
  • non-classical monocyte: 4.4 nTPM
  • plasmacytoid DC: 3.3 nTPM
  • MAIT T-cell: 2.8 nTPM
  • naive CD8 T-cell: 2.2 nTPM

Brain region

  • hippocampal formation: 21 nTPM
  • cerebral cortex: 21 nTPM
  • basal ganglia: 20 nTPM
  • thalamus: 20 nTPM
  • amygdala: 18 nTPM
  • white matter: 17 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about REEP6.

Disease | AllUniProt

Conditions REEP6 is implicated in, by any mechanism.

Disease | GeneticClinVar

27 pathogenic / likely-pathogenic of 290 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)
1.5
gnomAD pLI
0
gnomAD missense Z
-0.16
DepMap mean gene effect
-0.02
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% 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

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of REEP6 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 REEP6 as an antibody target. Whether an autoantibody or antibody against REEP6 could matter depends on whether native REEP6 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

REEP6 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 REEP6 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/REEP6. 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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