Seroatlas · Human Serome Atlas

RUFY1

RUN and FYVE domain-containing protein 1

Also known as: FLJ22251, RABIP4, RUFY1_HUMAN, ZFYVE12

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

Protein identityUniProt · HPA

UniProt accession: Q96T51
Gene: RUFY1
Ensembl: ENSG00000176783
Chromosome: 5
Canonical length: 708 aa
Protein class: Plasma proteins, Predicted intracellular proteins
Subcellular location: Nuclear speckles,Vesicles,Cytosol

OverviewNCBI Gene

This gene encodes a protein that contains a RUN domain and a FYVE-type zinc finger domain. The encoded protein binds to phosphatidylinositol-3-phosphate (PI3P) and plays a role in early endosomal trafficking, tethering and fusion through interactions with small GTPases including Rab4, Rab5 and Rab14. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]

Canonical amino-acid sequenceUniProt

708 residues, UniProt reviewed canonical sequence.

>Q96T51|RUFY1
     1  MADREGGCAA GRGRELEPEL EPGPGPGSAL EPGEEFEIVD RSQLPGPGDL RSATRPRAAE
    61  GWSAPILTLA RRATGNLSAS CGSALRAAAG LGGGDSGDGT ARAASKCQMM EERANLMHMM
   121  KLSIKVLLQS ALSLGRSLDA DHAPLQQFFV VMEHCLKHGL KVKKSFIGQN KSFFGPLELV
   181  EKLCPEASDI ATSVRNLPEL KTAVGRGRAW LYLALMQKKL ADYLKVLIDN KHLLSEFYEP
   241  EALMMEEEGM VIVGLLVGLN VLDANLCLKG EDLDSQVGVI DFSLYLKDVQ DLDGGKEHER
   301  ITDVLDQKNY VEELNRHLSC TVGDLQTKID GLEKTNSKLQ EELSAATDRI CSLQEEQQQL
   361  REQNELIRER SEKSVEITKQ DTKVELETYK QTRQGLDEMY SDVWKQLKEE KKVRLELEKE
   421  LELQIGMKTE MEIAMKLLEK DTHEKQDTLV ALRQQLEEVK AINLQMFHKA QNAESSLQQK
   481  NEAITSFEGK TNQVMSSMKQ MEERLQHSER ARQGAEERSH KLQQELGGRI GALQLQLSQL
   541  HEQCSSLEKE LKSEKEQRQA LQRELQHEKD TSSLLRMELQ QVEGLKKELR ELQDEKAELQ
   601  KICEEQEQAL QEMGLHLSQS KLKMEDIKEV NQALKGHAWL KDDEATHCRQ CEKEFSISRR
   661  KHHCRNCGHI FCNTCSSNEL ALPSYPKPVR VCDSCHTLLL QRCSSTAS

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against RUFY1 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: 0
Mean surface accessibility (rSASA): 0.46
Highest tissue expression: 33 nTPM

Expression across tissuesHPA

Tissue

spleen: 33 nTPM
esophagus: 33 nTPM
skeletal muscle: 33 nTPM
skin: 32 nTPM
adrenal gland: 31 nTPM
cervix: 27 nTPM

Single-cell type

platelets: 1,849 nCPM
megakaryocytes: 377 nCPM
choroid plexus epithelial cells: 108 nCPM
ependymal cells: 85 nCPM
podocytes: 82 nCPM
distal convoluted tubule cells: 78 nCPM

Immune cell

total PBMC: 30 nTPM
basophil: 15 nTPM
eosinophil: 12 nTPM
neutrophil: 8 nTPM
non-classical monocyte: 7.2 nTPM
naive B-cell: 5.7 nTPM

Brain region

choroid plexus: 12 nTPM
white matter: 10 nTPM
basal ganglia: 9.6 nTPM
medulla oblongata: 9.5 nTPM
hypothalamus: 9.1 nTPM
thalamus: 9.1 nTPM

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): 0.68
gnomAD pLI: 0
gnomAD missense Z: 0.53
DepMap mean gene effect: 0.04
DepMap dependency class: none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% 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

FYVE zinc finger
Zinc finger, RING-type
RUN domain
Zinc finger, FYVE/PHD-type
Zinc finger, RING/FYVE/PHD-type
Zinc finger, FYVE-related
RUN domain superfamily
RUN and FYVE domain-containing protein 1-3
FYVE zinc finger
RUN domain
RUN and FYVE domain-containing protein 1, RUN domain
RUN and FYVE domain-containing protein 1, FYVE domain

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of RUFY1 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 RUFY1 as an antibody target. Whether an autoantibody or antibody against RUFY1 could matter depends on whether native RUFY1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

RUFY1 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 RUFY1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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