Seroatlas · Human Serome Atlas

RUBCN

Run domain Beclin-1-interacting and cysteine-rich domain-containing protein

Also known as: KIAA0226, RUBIC_HUMAN, rubicon, rundataxin

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

Protein identityUniProt · HPA

UniProt accession: Q92622
Gene: RUBCN
Ensembl: ENSG00000145016
Chromosome: 3
Canonical length: 972 aa
Protein class: Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location: Nucleoplasm,Vesicles,Cytosol

OverviewNCBI Gene

The protein encoded by this gene is a negative regulator of autophagy and endocytic trafficking and controls endosome maturation. This protein contains two conserved domains, an N-terminal RUN domain and a C-terminal DUF4206 domain. The RUN domain is involved in Ras-like GTPase signaling, and the DUF4206 domain contains a diacylglycerol (DAG) binding-like motif. Mutation in this gene results in deletion of the DAG binding-like motif and causes a recessive ataxia. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Apr 2014]

Canonical amino-acid sequenceUniProt

972 residues, UniProt reviewed canonical sequence.

>Q92622|RUBCN
     1  MRPEGAGMEL GGGEERLPEE SRREHWQLLG NLKTTVEGLV STNSPNVWSK YGGLERLCRD
    61  MQSILYHGLI RDQACRRQTD YWQFVKDIRW LSPHSALHVE KFISVHENDQ SSADGASERA
   121  VAELWLQHSL QYHCLSAQLR PLLGDRQYIR KFYTDAAFLL SDAHVTAMLQ CLEAVEQNNP
   181  RLLAQIDASM FARKHESPLL VTKSQSLTAL PSSTYTPPNS YAQHSYFGSF SSLHQSVPNN
   241  GSERRSTSFP LSGPPRKPQE SRGHVSPAED QTIQAPPVSV SALARDSPLT PNEMSSSTLT
   301  SPIEASWVSS QNDSPGDASE GPEYLAIGNL DPRGRTASCQ SHSSNAESSS SNLFSSSSSQ
   361  KPDSAASSLG DQEGGGESQL SSVLRRSSFS EGQTLTVTSG AKKSHIRSHS DTSIASRGAP
   421  ESCNDKAKLR GPLPYSGQSS EVSTPSSLYM EYEGGRYLCS GEGMFRRPSE GQSLISYLSE
   481  QDFGSCADLE KENAHFSISE SLIAAIELMK CNMMSQCLEE EEVEEEDSDR EIQELKQKIR
   541  LRRQQIRTKN LLPMYQEAEH GSFRVTSSSS QFSSRDSAQL SDSGSADEVD EFEIQDADIR
   601  RNTASSSKSF VSSQSFSHCF LHSTSAEAVA MGLLKQFEGM QLPAASELEW LVPEHDAPQK
   661  LLPIPDSLPI SPDDGQHADI YKLRIRVRGN LEWAPPRPQI IFNVHPAPTR KIAVAKQNYR
   721  CAGCGIRTDP DYIKRLRYCE YLGKYFCQCC HENAQMAIPS RVLRKWDFSK YYVSNFSKDL
   781  LIKIWNDPLF NVQDINSALY RKVKLLNQVR LLRVQLCHMK NMFKTCRLAK ELLDSFDTVP
   841  GHLTEDLHLY SLNDLTATRK GELGPRLAEL TRAGATHVER CMLCQAKGFI CEFCQNEDDI
   901  IFPFELHKCR TCEECKACYH KACFKSGSCP RCERLQARRE ALARQSLESY LSDYEEEPAE
   961  ALALEAAVLE AT

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against RUBCN 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: Intracellular
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.48
Highest tissue expression: 17 nTPM

Expression across tissuesHPA

Tissue

cerebellum: 17 nTPM
spleen: 16 nTPM
tonsil: 15 nTPM
lymph node: 14 nTPM
cerebral cortex: 13 nTPM
pituitary gland: 12 nTPM

Single-cell type

pdcs: 421 nCPM
plasma cells: 171 nCPM
b-cells: 132 nCPM
urothelial cells: 120 nCPM
ocular epithelial cells: 117 nCPM
cardiomyocytes: 101 nCPM

Immune cell

eosinophil: 17 nTPM
plasmacytoid DC: 17 nTPM
naive B-cell: 8.5 nTPM
memory B-cell: 7.8 nTPM
non-classical monocyte: 4.8 nTPM
memory CD8 T-cell: 4.7 nTPM

Brain region

hypothalamus: 86 nTPM
medulla oblongata: 80 nTPM
midbrain: 75 nTPM
hippocampal formation: 72 nTPM
white matter: 72 nTPM
cerebral cortex: 71 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about RUBCN.

Disease | AllUniProt

Conditions RUBCN is implicated in, by any mechanism.

Spinocerebellar ataxia, autosomal recessive, 15 (SCAR15) MIM:615705

Disease | GeneticClinVar

5 pathogenic / likely-pathogenic of 267 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Autosomal recessive spinocerebellar ataxia 15
Spinocerebellar ataxia type 15/16

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): 0.79
gnomAD pLI: 0
DepMap mean gene effect: 0.06
DepMap dependency class: none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 9% 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 RUBCN 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 RUBCN as an antibody target. Whether an autoantibody or antibody against RUBCN could matter depends on whether native RUBCN is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

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

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