Seroatlas · Human Serome Atlas

RABGEF1

Rab5 GDP/GTP exchange factor

Also known as: rabex-5, RABEX5, RABX5_HUMAN

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

Protein identityUniProt · HPA

UniProt accession: Q9UJ41
Gene: RABGEF1
Ensembl: ENSG00000154710
Chromosome: 7
Canonical length: 491 aa
Protein class: Predicted intracellular proteins, Transporters
Subcellular location: Nucleoli,Cytosol

OverviewNCBI Gene

RABGEF1 forms a complex with rabaptin-5 (RABPT5; MIM 603616) that is required for endocytic membrane fusion, and it serves as a specific guanine nucleotide exchange factor (GEF) for RAB5 (RAB5A; MIM 179512) (Horiuchi et al., 1997 [PubMed 9323142]).[supplied by OMIM, Mar 2010]

Canonical amino-acid sequenceUniProt

491 residues, UniProt reviewed canonical sequence.

>Q9UJ41|RABGEF1
     1  MSLKSERRGI HVDQSDLLCK KGCGYYGNPA WQGFCSKCWR EEYHKARQKQ IQEDWELAER
    61  LQREEEEAFA SSQSSQGAQS LTFSKFEEKK TNEKTRKVTT VKKFFSASSR VGSKKEIQEA
   121  KAPSPSINRQ TSIETDRVSK EFIEFLKTFH KTGQEIYKQT KLFLEGMHYK RDLSIEEQSE
   181  CAQDFYHNVA ERMQTRGKVP PERVEKIMDQ IEKYIMTRLY KYVFCPETTD DEKKDLAIQK
   241  RIRALRWVTP QMLCVPVNED IPEVSDMVVK AITDIIEMDS KRVPRDKLAC ITKCSKHIFN
   301  AIKITKNEPA SADDFLPTLI YIVLKGNPPR LQSNIQYITR FCNPSRLMTG EDGYYFTNLC
   361  CAVAFIEKLD AQSLNLSQED FDRYMSGQTS PRKQEAESWS PDACLGVKQM YKNLDLLSQL
   421  NERQERIMNE AKKLEKDLID WTDGIAREVQ DIVEKYPLEI KPPNQPLAAI DSENVENDKL
   481  PPPLQPQVYA G

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against RABGEF1 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): 0.4
Highest tissue expression: 73 nTPM

Expression across tissuesHPA

Tissue

bone marrow: 73 nTPM
retina: 46 nTPM
testis: 24 nTPM
skin: 24 nTPM
esophagus: 20 nTPM
cerebellum: 19 nTPM

Single-cell type

oligodendrocytes: 328 nCPM
choroid plexus epithelial cells: 295 nCPM
other brain neurons: 228 nCPM
brain inhibitory neurons: 209 nCPM
brain excitatory neurons: 196 nCPM
astrocytes: 189 nCPM

Immune cell

basophil: 19 nTPM
NK-cell: 14 nTPM
non-classical monocyte: 13 nTPM
naive B-cell: 13 nTPM
neutrophil: 12 nTPM
memory B-cell: 9.3 nTPM

Brain region

white matter: 26 nTPM
hypothalamus: 24 nTPM
choroid plexus: 23 nTPM
cerebral cortex: 23 nTPM
pons: 23 nTPM
amygdala: 22 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): 0.65
gnomAD pLI: 0
gnomAD missense Z: 1.47
DepMap mean gene effect: -0.26
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

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of RABGEF1 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 RABGEF1 as an antibody target. Whether an autoantibody or antibody against RABGEF1 could matter depends on whether native RABGEF1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

RABGEF1 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 RABGEF1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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