RAP1GDS1
Rap1 GTPase-GDP dissociation stimulator 1
Also known as: GDS1_HUMAN, SmgGDS
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- P52306
- Gene
- RAP1GDS1
- Ensembl
- ENSG00000138698
- Chromosome
- 4
- Canonical length
- 607 aa
- Protein class
- Cancer-related genes, Disease related genes, Predicted intracellular proteins
- Subcellular location
- Cytosol
OverviewNCBI Gene
The smg GDP dissociation stimulator (smgGDS) protein is a stimulatory GDP/GTP exchange protein with GTPase activity (Riess et al., 1993 [PubMed 8262526]).[supplied by OMIM, Feb 2010]
Canonical amino-acid sequenceUniProt
607 residues, UniProt reviewed canonical sequence.
>P52306|RAP1GDS1
1 MDNLSDTLKK LKITAVDKTE DSLEGCLDCL LQALAQNNTE TSEKIQASGI LQLFASLLTP
61 QSSCKAKVAN IIAEVAKNEF MRIPCVDAGL ISPLVQLLNS KDQEVLLQTG RALGNICYDS
121 HEGRSAVDQA GGAQIVIDHL RSLCSITDPA NEKLLTVFCG MLMNYSNEND SLQAQLINMG
181 VIPTLVKLLG IHCQNAALTE MCLVAFGNLA ELESSKEQFA STNIAEELVK LFKKQIEHDK
241 REMIFEVLAP LAENDAIKLQ LVEAGLVECL LEIVQQKVDS DKEDDITELK TGSDLMVLLL
301 LGDESMQKLF EGGKGSVFQR VLSWIPSNNH QLQLAGALAI ANFARNDANC IHMVDNGIVE
361 KLMDLLDRHV EDGNVTVQHA ALSALRNLAI PVINKAKMLS AGVTEAVLKF LKSEMPPVQF
421 KLLGTLRMLI DAQAEAAEQL GKNVKLVERL VEWCEAKDHA GVMGESNRLL SALIRHSKSK
481 DVIKTIVQSG GIKHLVTMAT SEHVIMQNEA LVALALIAAL ELGTAEKDLE SAKLVQILHR
541 LLADERSAPE IKYNSMVLIC ALMGSECLHK EVQDLAFLDV VSKLRSHENK SVAQQASLTE
601 QRLTVESLocalizationUniProt · AlphaFold · HPA
Whether an antibody against RAP1GDS1 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)
- 0.22
- Highest tissue expression
- 61 nTPM
Expression across tissuesHPA
Tissue
- spinal cord: 61 nTPM
- retina: 61 nTPM
- midbrain: 55 nTPM
- cerebral cortex: 53 nTPM
- hippocampal formation: 43 nTPM
- basal ganglia: 42 nTPM
Single-cell type
- rod photoreceptor cells: 504 nCPM
- cone photoreceptor cells: 480 nCPM
- early spermatids: 438 nCPM
- oligodendrocytes: 408 nCPM
- late spermatids: 376 nCPM
- thymocytes: 348 nCPM
Immune cell
- plasmacytoid DC: 61 nTPM
- T-reg: 41 nTPM
- NK-cell: 37 nTPM
- basophil: 33 nTPM
- non-classical monocyte: 29 nTPM
- myeloid DC: 28 nTPM
Brain region
- white matter: 119 nTPM
- pons: 113 nTPM
- thalamus: 106 nTPM
- midbrain: 105 nTPM
- medulla oblongata: 98 nTPM
- cerebellum: 90 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about RAP1GDS1.
Disease | AllUniProt
Conditions RAP1GDS1 is implicated in, by any mechanism.
- Alfadhel syndrome (AFDL) MIM:620655
Disease | GeneticClinVar
2 pathogenic / likely-pathogenic of 103 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Alfadhel syndrome
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)
- 0.34
- gnomAD pLI
- 0.93
- gnomAD missense Z
- 1.07
- DepMap mean gene effect
- 0.04
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- angiotensin-activated signaling pathway involved in heart process
- cardiac muscle hypertrophy
- negative regulation of endoplasmic reticulum calcium ion concentration
- positive regulation of mitochondrial calcium ion concentration
- protein localization to nucleus
- regulation of ERK5 cascade
- regulation of matrix metallopeptidase secretion
- regulation of mitochondrion organization
- vascular associated smooth muscle contraction
- CAAX-box protein maturation
- myosin filament assembly
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
- Armadillo
- Armadillo-like helical
- Armadillo-type fold
- Armadillo/beta-catenin-like repeat
- Rap1 GTPase-GDP dissociation stimulator 1
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of RAP1GDS1 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 RAP1GDS1 as an antibody target. Whether an autoantibody or antibody against RAP1GDS1 could matter depends on whether native RAP1GDS1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
RAP1GDS1 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 RAP1GDS1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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