Seroatlas · Human Serome Atlas

RBSN

Rabenosyn-5

Also known as: RBNS5_HUMAN, ZFYVE20

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

Protein identityUniProt · HPA

UniProt accession
Q9H1K0
Gene
RBSN
Ensembl
ENSG00000131381
Chromosome
3
Canonical length
784 aa
Protein class
Predicted intracellular proteins
Subcellular location
Vesicles

OverviewNCBI Gene

This gene encodes a protein that belongs to the FYVE zinc finger family of proteins. The encoded protein interacts with Ras-related proteins that regulate membrane trafficking. A missense mutation in this gene is associated with a defect in the early endocytic pathway. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]

Canonical amino-acid sequenceUniProt

784 residues, UniProt reviewed canonical sequence.

>Q9H1K0|RBSN
     1  MASLDDPGEV REGFLCPLCL KDLQSFYQLH SHYEEEHSGE DRDVKGQIKS LVQKAKKAKD
    61  RLLKREGDDR AESGTQGYES FSYGGVDPYM WEPQELGAVR SHLSDFKKHR AARIDHYVVE
   121  VNKLIIRLEK LTAFDRTNTE SAKIRAIEKS VVPWVNDQDV PFCPDCGNKF SIRNRRHHCR
   181  LCGSIMCKKC MELISLPLAN KLTSASKESL STHTSPSQSP NSVHGSRRGS ISSMSSVSSV
   241  LDEKDDDRIR CCTHCKDTLL KREQQIDEKE HTPDIVKLYE KLRLCMEKVD QKAPEYIRMA
   301  ASLNAGETTY SLEHASDLRV EVQKVYELID ALSKKILTLG LNQDPPPHPS NLRLQRMIRY
   361  SATLFVQEKL LGLMSLPTKE QFEELKKKRK EEMERKRAVE RQAALESQRR LEERQSGLAS
   421  RAANGEVASL RRGPAPLRKA EGWLPLSGGQ GQSEDSDPLL QQIHNITSFI RQAKAAGRMD
   481  EVRTLQENLR QLQDEYDQQQ TEKAIELSRR QAEEEDLQRE QLQMLREREL EREREQFRVA
   541  SLHTRTRSLD FREIGPFQLE PSREPRTHLA YALDLGSSPV PSSTAPKTPS LSSTQPTRVW
   601  SGPPAVGQER LPQSSMPQQH EGPSLNPFDE EDLSSPMEEA TTGPPAAGVS LDPSARILKE
   661  YNPFEEEDEE EEAVAGNPFI QPDSPAPNPF SEEDEHPQQR LSSPLVPGNP FEEPTCINPF
   721  EMDSDSGPEA EEPIEEELLL QQIDNIKAYI FDAKQCGRLD EVEVLTENLR ELKHTLAKQK
   781  GGTD

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against RBSN 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)
0.51
Highest tissue expression
17 nTPM

Expression across tissuesHPA

Tissue

  • bone marrow: 17 nTPM
  • cerebral cortex: 17 nTPM
  • amygdala: 14 nTPM
  • cerebellum: 14 nTPM
  • midbrain: 14 nTPM
  • spinal cord: 14 nTPM

Single-cell type

  • bergmann glia: 50 nCPM
  • oligodendrocytes: 35 nCPM
  • astrocytes: 34 nCPM
  • brain inhibitory neurons: 31 nCPM
  • brain excitatory neurons: 30 nCPM
  • distal convoluted tubule cells: 29 nCPM

Immune cell

  • neutrophil: 12 nTPM
  • eosinophil: 11 nTPM
  • basophil: 8.1 nTPM
  • naive CD4 T-cell: 7.7 nTPM
  • naive B-cell: 7.4 nTPM
  • intermediate monocyte: 6.4 nTPM

Brain region

  • thalamus: 44 nTPM
  • spinal cord: 43 nTPM
  • cerebral cortex: 43 nTPM
  • midbrain: 42 nTPM
  • amygdala: 42 nTPM
  • medulla oblongata: 41 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about RBSN.

Disease | AllUniProt

Conditions RBSN is implicated in, by any mechanism.

  • Kariminejad neurodevelopmental syndrome (KAREVS) MIM:620937
  • Myelofibrosis, congenital, with anemia, neutropenia, developmental delay, and ocular abnormalities (MFANDO) MIM:620939

Disease | GeneticClinVar

3 pathogenic / likely-pathogenic of 150 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Kariminejad neurodevelopmental syndrome
  • Myelofibrosis, congenital, with anemia, neutropenia, developmental delay, and ocular abnormalities

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)
0.46
gnomAD pLI
0.02
DepMap mean gene effect
-0.33
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 RBSN 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 RBSN as an antibody target. Whether an autoantibody or antibody against RBSN could matter depends on whether native RBSN is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

RBSN is annotated at the cell surface, where native RBSN 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 RBSN as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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