Seroatlas · Human Serome Atlas

REPS1

RalBP1-associated Eps domain-containing protein 1

Also known as: REPS1_HUMAN

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

Protein identityUniProt · HPA

UniProt accession
Q96D71
Gene
REPS1
Ensembl
ENSG00000135597
Chromosome
6
Canonical length
796 aa
Protein class
Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location
Vesicles,Plasma membrane,Cytosol
Quaternary structure
Homodimer

OverviewNCBI Gene

This gene encodes a signaling adaptor protein with two EH domains that interacts with proteins that participate in signaling, endocytosis and cytoskeletal changes. The encoded protein has been found in association with intersectin 1 and Src homology 3-domain growth factor receptor-bound 2-like (endophilin) interacting protein 1 when intersectin 1 was isolated from clathrin-coated pits. The encoded protein has also been shown to interact with amphiphysin, a cytoplasmic protein at the surface of synaptic vesicles. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2014]

Canonical amino-acid sequenceUniProt

796 residues, UniProt reviewed canonical sequence.

>Q96D71|REPS1
     1  MEGLTLSDAE QKYYSDLFSY CDIESTKKVV VNGRVLELFR AAQLPNDVVL QIMELCGATR
    61  LGYFGRSQFY IALKLVAVAQ SGFPLRVESI NTVKDLPLPR FVASKNEQES RHAASYSSDS
   121  ENQGSYSGVI PPPPGRGQVK KGSVSHDTVQ PRTSADAQEP ASPVVSPQQS PPTSPHTWRK
   181  HSRHPSGGNS ERPLAGPGPF WSPFGEAQSG SSAGDAVWSG HSPPPPQENW VSFADTPPTS
   241  TLLTMHPASV QDQTTVRTVA SATTAIEIRR QSSSYDDPWK ITDEQRQYYV NQFKTIQPDL
   301  NGFIPGSAAK EFFTKSKLPI LELSHIWELS DFDKDGALTL DEFCAAFHLV VARKNGYDLP
   361  EKLPESLMPK LIDLEDSADV GDQPGEVGYS GSPAEAPPSK SPSMPSLNQT WPELNQSSEQ
   421  WETFSERSSS SQTLTQFDSN IAPADPDTAI VHPVPIRMTP SKIHMQEMEL KRTGSDHTNP
   481  TSPLLVKPSD LLEENKINSS VKFASGNTVA DGYSSSDSFT SDPEQIGSNV TRQRSHSGTS
   541  PDNTAPPPPP PRPQPSHSRS SSLDMNRTFT VTTGQQQAGV VAHPPAVPPR PQPSQAPGPA
   601  VHRPVDADGL ITHTSTSPQQ IPEQPNFADF SQFEVFAASN VNDEQDDEAE KHPEVLPAEK
   661  ASDPASSLRV AKTDSKTEEK TAASAPANVS KGTTPLAPPP KPVRRRLKSE DELRPEVDEH
   721  TQKTGVLAAV LASQPSIPRS VGKDKKAIQA SIRRNKETNT VLARLNSELQ QQLKDVLEER
   781  ISLEVQLEQL RPFSHL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against REPS1 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
Cell surface
Secreted
No
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.6
Highest tissue expression
39 nTPM

Expression across tissuesHPA

Tissue

  • parathyroid gland: 39 nTPM
  • epididymis: 38 nTPM
  • retina: 36 nTPM
  • thymus: 33 nTPM
  • testis: 33 nTPM
  • cerebellum: 32 nTPM

Single-cell type

  • lactotrophs: 452 nCPM
  • sertoli cells: 445 nCPM
  • bergmann glia: 403 nCPM
  • astrocytes: 342 nCPM
  • podocytes: 300 nCPM
  • corticotrophs: 295 nCPM

Immune cell

  • basophil: 6 nTPM
  • non-classical monocyte: 4.6 nTPM
  • intermediate monocyte: 4 nTPM
  • MAIT T-cell: 3.8 nTPM
  • naive CD8 T-cell: 3.6 nTPM
  • plasmacytoid DC: 3.5 nTPM

Brain region

  • cerebral cortex: 54 nTPM
  • cerebellum: 49 nTPM
  • hippocampal formation: 48 nTPM
  • medulla oblongata: 46 nTPM
  • thalamus: 46 nTPM
  • white matter: 43 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about REPS1.

Disease | AllUniProt

Conditions REPS1 is implicated in, by any mechanism.

  • Neurodegeneration with brain iron accumulation 7 (NBIA7) MIM:617916

Disease | GeneticClinVar

1 pathogenic / likely-pathogenic of 284 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Neurodegeneration with brain iron accumulation 7

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
0.99
gnomAD missense Z
1.7
DepMap mean gene effect
-0.04
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

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of REPS1 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 REPS1 as an antibody target. Whether an autoantibody or antibody against REPS1 could matter depends on whether native REPS1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

REPS1 is annotated at the cell surface, where native REPS1 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.

Annotation status

The present source text does not explicitly label REPS1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/REPS1. 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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