Seroatlas · Human Serome Atlas

RAB5IF

GEL complex subunit OPTI

Also known as: C20orf24, PNAS-11, RCAF1, RCAF1_HUMAN, RIP5

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

Protein identityUniProt · HPA

UniProt accession
Q9BUV8
Gene
RAB5IF
Ensembl
ENSG00000101084
Chromosome
20
Canonical length
137 aa
Protein class
Disease related genes, Predicted membrane proteins
Subcellular location
Mitochondria

OverviewNCBI Gene

Involved in mitochondrial respirasome assembly and multi-pass transmembrane protein insertion into ER membrane. Located in mitochondrion. Part of multi-pass translocon complex. Implicated in craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2. [provided by Alliance of Genome Resources, Jul 2025]

Canonical amino-acid sequenceUniProt

137 residues, UniProt reviewed canonical sequence.

>Q9BUV8|RAB5IF
     1  MSGGRRKEEP PQPQLANGAL KVSVWSKVLR SDAAWEDKDE FLDVIYWFRQ IIAVVLGVIW
    61  GVLPLRGFLG IAGFCLINAG VLYLYFSNYL QIDEEEYGGT WELTKEGFMT SFALFMVCVA
   121  DSFTTGHLDH LLHCHPL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against RAB5IF 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
3
Mean surface accessibility (rSASA)
0.42
Highest tissue expression
223 nTPM

Expression across tissuesHPA

Tissue

  • skeletal muscle: 223 nTPM
  • esophagus: 159 nTPM
  • liver: 118 nTPM
  • tongue: 73 nTPM
  • bone marrow: 64 nTPM
  • colon: 62 nTPM

Single-cell type

  • esophageal apical cells: 2,431 nCPM
  • esophageal suprabasal cells: 470 nCPM
  • hofbauer cells: 279 nCPM
  • neutrophils: 275 nCPM
  • hepatocytes: 263 nCPM
  • esophageal basal cells: 243 nCPM

Immune cell

  • neutrophil: 120 nTPM
  • eosinophil: 97 nTPM
  • classical monocyte: 77 nTPM
  • myeloid DC: 48 nTPM
  • non-classical monocyte: 47 nTPM
  • T-reg: 40 nTPM

Brain region

  • white matter: 41 nTPM
  • thalamus: 40 nTPM
  • cerebellum: 39 nTPM
  • choroid plexus: 39 nTPM
  • spinal cord: 38 nTPM
  • hypothalamus: 37 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about RAB5IF.

Disease | AllUniProt

Conditions RAB5IF is implicated in, by any mechanism.

  • Craniofacial dysmorphism, skeletal anomalies and impaired intellectual development syndrome 2 (CFSMR2) MIM:616994

Disease | GeneticClinVar

1 pathogenic / likely-pathogenic of 5 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)
0.6
gnomAD pLI
0.67
DepMap mean gene effect
-0.12
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 14% 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 RAB5IF 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 RAB5IF as an antibody target. Whether an autoantibody or antibody against RAB5IF could matter depends on whether native RAB5IF is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

RAB5IF 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 RAB5IF as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/RAB5IF. 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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