RAP1GDS1
entrez
5910
canonical
uniprot
P52306
canonical
ensembl
ENSG00000138698
resolver
ensp
ENSP00000264572
resolver
ensp
ENSP00000340454
resolver
ensp
ENSP00000369503
resolver
ensp
ENSP00000386153
resolver
ensp
ENSP00000386223
resolver
ensp
ENSP00000407157
resolver
ensp
ENSP00000554539
resolver
ensp
ENSP00000554540
resolver
ensp
ENSP00000554541
resolver
genesymbol
RAP1GDS1
resolver
genesymbol_syn
SMGGDS
resolver
hgnc
HGNC:9859
resolver
uniprot
B3KNU0
resolver
uniprot
E9PH06
resolver
uniprot
G5E9P9
resolver
uniprot
Q499L7
resolver
uniprot
Q4KMV2
resolver
uniprot
Q4QQI8
resolver
uniprot
Q6U7G8
resolver
uniprot
Q9BUW9
resolver
uniprot
Q9BUX6
resolver
uniprot
Q9NYM2
resolver
uniprot
Q9NZA8
resolver
uniprot_entry
B3KNU0_HUMAN
resolver
uniprot_entry
GDS1_HUMAN
resolver
uniprot_entry
Q6U7G8_HUMAN
resolver
uniprot_sec
E9PH06
resolver
uniprot_sec
G5E9P9
resolver
uniprot_sec
Q499L7
resolver
uniprot_sec
Q4KMV2
resolver
uniprot_sec
Q4QQI8
resolver
uniprot_sec
Q9BUW9
resolver
uniprot_sec
Q9BUX6
resolver
uniprot_sec
Q9NYM2
resolver
uniprot_sec
Q9NZA8
resolver
amino_acid_sequence
MDNLSDTLKKLKITAVDKTEDSLEGCLDCLLQALAQNNTETSEKIQASGILQLFASLLTPQSSCKAKVANIIAEVAKNEFMRIPCVDAGLISPLVQLLNSKDQEVLLQTGRALGNICYDSHEGRSAVDQAGGAQIVIDHLRSLCSITDPANEKLLTVFCGMLMNYSNENDSLQAQLINMGVIPTLVKLLGIHCQNAALTEMCLVAFGNLAELESSKEQFASTNIAEELVKLFKKQIEHDKREMIFEVLAPLAENDAIKLQLVEAGLVECLLEIVQQKVDSDKEDDITELKTGSDLMVLLLLGDESMQKLFEGGKGSVFQRVLSWIPSNNHQLQLAGALAIANFARNDANCIHMVDNGIVEKLMDLLDRHVEDGNVTVQHAALSALRNLAIPVINKAKMLSAGVTEAVLKFLKSEMPPVQFKLLGTLRMLIDAQAEAAEQLGKNVKLVERLVEWCEAKDHAGVMGESNRLLSALIRHSKSKDVIKTIVQSGGIKHLVTMATSEHVIMQNEALVALALIAALELGTAEKDLESAKLVQILHRLLADERSAPEIKYNSMVLICALMGSECLHKEVQDLAFLDVVSKLRSHENKSVAQQASLTEQRLTVES
uniprot
proteins
disease_involvement
DISEASE: Alfadhel syndrome (AFDL) [MIM:620655]: An autosomal recessive neurodevelopmental disorder characterized by global developmental delay and regression, intellectual disability, hypotonia, delayed motor development, stereotypy, behavioral abnormalities, and dysmorphic features. {ECO:0000269|PubMed:32431071, ECO:0000269|PubMed:33875846}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Note=A chromosomal aberration involving RAP1GDS1 has been found in M0 type acute myeloid leukemia. Translocation (t4;11)(q23;p15) with NUP98. {ECO:0000269|PubMed:16419055}.; DISEASE: Note=A chromosomal aberration involving RAP1GDS1 has been found in T-cell acute lymphocytic leukemia. Translocation t(4;11)(q23;p15) with NUP98. {ECO:0000269|PubMed:10477737, ECO:0000269|PubMed:10929031}.
uniprot
proteins
function
FUNCTION: Acts as a GEF (guanine nucleotide exchange factor) for the Rho family of small GTP-binding proteins (G proteins) that stimulates the dissociation of GDP to enable subsequent binding of GTP (PubMed:11948427, PubMed:1549351, PubMed:20709748, PubMed:28630045, PubMed:30190425). Additionally, appears to chaperone the processing and/or trafficking of small GTPases containing a C-terminal polybasic region independently of GEF activity (PubMed:20709748, PubMed:21242305). Targets include RAP1A/RAP1B, RHOA, RHOB, RHOC, RAC1 and KRAS (PubMed:11948427, PubMed:1549351, PubMed:20709748, PubMed:24415755). Regulates mitochondrial dynamics by controlling RHOT function to promote mitochondrial fission during high calcium conditions (PubMed:27716788). Able to promote the Ca(2+) release from the endoplasmic reticulum via both inositol trisphosphate (Ins3P) and ryanodine sensitive receptors leading to a enhanced mitochondrial Ca(2+) uptake (PubMed:24349085). {ECO:0000269|PubMed:11948427, ECO:0000269|PubMed:1549351, ECO:0000269|PubMed:20709748, ECO:0000269|PubMed:21242305, ECO:0000269|PubMed:24349085, ECO:0000269|PubMed:24415755, ECO:0000269|PubMed:27716788, ECO:0000269|PubMed:28630045, ECO:0000269|PubMed:30190425, ECO:0000305|PubMed:30190425}.; FUNCTION: [Isoform 1]: Acts as a GEF (guanine nucleotide exchange factor) for unprenylated RHOA (PubMed:24415755, PubMed:28630045, PubMed:30190425). Chaperones the entry and passage of small GTPases through the prenylation pathway (PubMed:20709748). Recognizes the last amino acid in the GTPase C-terminal CAAX motif with a preference for 'Leu' over 'Met', indicating involvement in the geranylgeranylation pathway (PubMed:24415755). {ECO:0000269|PubMed:20709748, ECO:0000269|PubMed:24415755, ECO:0000269|PubMed:28630045, ECO:0000269|PubMed:30190425}.; FUNCTION: [Isoform 2]: Acts as a GEF (guanine nucleotide exchange factor) for prenylated RHOA (PubMed:21242305, PubMed:28630045, PubMed:30190425). Acts as a GEF for RHOC (PubMed:21242305). Chaperones the downstream trafficking and/or processing of small newly prenylated GTPases (PubMed:20709748). Escorts RAC1 to the nucleus (PubMed:12551911). {ECO:0000269|PubMed:12551911, ECO:0000269|PubMed:20709748, ECO:0000269|PubMed:21242305, ECO:0000269|PubMed:28630045, ECO:0000269|PubMed:30190425}.
uniprot
proteins
mass_dalton
66317
uniprot
proteins
post_translational_modification
PTM: Forms covalent cross-links mediated by transglutaminase TGM2, between a glutamine and the epsilon-amino group of a lysine residue, forming homopolymers and heteropolymers. {ECO:0000269|PubMed:24349085}.
uniprot
proteins
pubmed
10477737
uniprot
proteins
pubmed
10929031
uniprot
proteins
pubmed
11948427
uniprot
proteins
pubmed
12551911
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
1549351
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
16419055
uniprot
proteins
pubmed
19608861
uniprot
proteins
pubmed
20709748
uniprot
proteins
pubmed
21242305
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
24349085
uniprot
proteins
pubmed
24415755
uniprot
proteins
pubmed
27716788
uniprot
proteins
pubmed
28630045
uniprot
proteins
pubmed
30190425
uniprot
proteins
pubmed
31406347
uniprot
proteins
pubmed
32431071
uniprot
proteins
pubmed
33875846
uniprot
proteins
sequence_length
607
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000269|PubMed:24349085}. Endoplasmic reticulum {ECO:0000269|PubMed:24349085}. Mitochondrion {ECO:0000269|PubMed:24349085}. Nucleus {ECO:0000269|PubMed:12551911}. Note=Nuclear import is dependent on complexing with a GTPase containing a C-terminal polybasic region. {ECO:0000269|PubMed:12551911}.
uniprot
proteins