RAP1B
entrez
5908
canonical
uniprot
P61224
canonical
ensembl
ENSG00000127314
resolver
ensp
ENSP00000250559
resolver
ensp
ENSP00000377085
resolver
ensp
ENSP00000399986
resolver
ensp
ENSP00000440014
resolver
ensp
ENSP00000444830
resolver
ensp
ENSP00000446318
resolver
genesymbol
RAP1B
resolver
hgnc
HGNC:9857
resolver
uniprot
B2R5Z2
resolver
uniprot
B4DQI8
resolver
uniprot
B4DW74
resolver
uniprot
B4DW94
resolver
uniprot
B7ZAY2
resolver
uniprot
P09526
resolver
uniprot
Q502X3
resolver
uniprot
Q5TZR4
resolver
uniprot
Q6DCA1
resolver
uniprot
Q6LES0
resolver
uniprot_entry
B7ZAY2_HUMAN
resolver
uniprot_entry
RAP1B_HUMAN
resolver
uniprot_sec
B2R5Z2
resolver
uniprot_sec
B4DQI8
resolver
uniprot_sec
B4DW74
resolver
uniprot_sec
B4DW94
resolver
uniprot_sec
P09526
resolver
uniprot_sec
Q502X3
resolver
uniprot_sec
Q5TZR4
resolver
uniprot_sec
Q6DCA1
resolver
uniprot_sec
Q6LES0
resolver
activity_regulation
ACTIVITY REGULATION: Activated by binding to the GTPase-activating protein RAP1GAP. Activated by guanine nucleotide-exchange factor (GEF) EPAC2 in a cAMP-dependent manner. {ECO:0000269|PubMed:18309292}.
uniprot
proteins
amino_acid_sequence
MREYKLVVLGSGGVGKSALTVQFVQGIFVEKYDPTIEDSYRKQVEVDAQQCMLEILDTAGTEQFTAMRDLYMKNGQGFALVYSITAQSTFNDLQDLREQILRVKDTDDVPMILVGNKCDLEDERVVGKEQGQNLARQWNNCAFLESSAKSKINVNEIFYDLVRQINRKTPVPGKARKKSSCQLL
uniprot
proteins
disease_involvement
DISEASE: Thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies (THC11) [MIM:620654]: A form of thrombocytopenia, a hematologic disorder defined by a decrease in the number of platelets in circulating blood, resulting in the potential for increased bleeding and decreased ability for clotting. THC11 is an autosomal dominant, syndromic form. Affected individuals have chronic and persistent thrombocytopenia, dysmorphic facial features, and multiple congenital anomalies with involvement of the cardiovascular, genitourinary, neurologic and skeletal systems. Additional features include leukopenia or anemia, poor growth with microcephaly, hypotonia, and mildly impaired intellectual development or learning disabilities. {ECO:0000269|PubMed:32627184, ECO:0000269|PubMed:35451551, ECO:0000269|PubMed:37850357}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
3.6.5.2
uniprot
proteins
function
FUNCTION: GTP-binding protein that possesses intrinsic GTPase activity. Contributes to the polarizing activity of KRIT1 and CDH5 in the establishment and maintenance of correct endothelial cell polarity and vascular lumen. Required for the localization of phosphorylated PRKCZ, PARD3 and TIAM1 to the cell junction. Plays a role in the establishment of basal endothelial barrier function. {ECO:0000269|PubMed:18660803, ECO:0000269|PubMed:20332120, ECO:0000269|PubMed:21840392}.
uniprot
proteins
mass_dalton
20825
uniprot
proteins
mutagenesis
MUTAGEN 25; /note="Q->A: Impairs interaction with KRIT1."; MUTAGEN 32; /note="Y->A: 25-fold reduction in RAP1GAP-stimulated GTPase activity."; /evidence="ECO:0000269|PubMed:18309292"; MUTAGEN 32; /note="Y->F: 2-fold reduction in RAP1GAP-stimulated GTPase activity."; /evidence="ECO:0000269|PubMed:18309292"; MUTAGEN 37; /note="E->A: Strong reduction in nucleotide exchange with EPAC2."; /evidence="ECO:0000269|PubMed:18660803"; MUTAGEN 38; /note="D->A: Impairs interaction with KRIT1."; MUTAGEN 63; /note="Q->E: Abolishes complex formation with RAP1GAP. Loss GTPase activity."; /evidence="ECO:0000269|PubMed:18309292"; MUTAGEN 64; /note="F->A: Abolishes complex formation with RAP1GAP. Loss GTPase activity."; /evidence="ECO:0000269|PubMed:18309292"; MUTAGEN 179; /note="S->A: Abolishes phosphorylation by PKA."; /evidence="ECO:0000269|PubMed:8463283
uniprot
proteins
protein_family
Ras family
uniprot
proteins
protein_family
Small GTPase superfamily
uniprot
proteins
pubmed
12665801
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16541075
uniprot
proteins
pubmed
1696481
uniprot
proteins
pubmed
17509819
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
18309292
uniprot
proteins
pubmed
18660803
uniprot
proteins
pubmed
20332120
uniprot
proteins
pubmed
2123345
uniprot
proteins
pubmed
21840392
uniprot
proteins
pubmed
22577140
uniprot
proteins
pubmed
24415755
uniprot
proteins
pubmed
3137530
uniprot
proteins
pubmed
3141412
uniprot
proteins
pubmed
32627184
uniprot
proteins
pubmed
35451551
uniprot
proteins
pubmed
37850357
uniprot
proteins
pubmed
8463283
uniprot
proteins
sequence_length
184
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:3141412}. Cytoplasm, cytosol {ECO:0000269|PubMed:3141412}. Cell junction {ECO:0000269|PubMed:20332120}. Note=May shuttle between plasma membrane and cytosol (PubMed:3141412). Presence of KRIT1 and CDH5 is required for its localization to the cell junction (PubMed:20332120). {ECO:0000269|PubMed:20332120, ECO:0000269|PubMed:3141412}.
uniprot
proteins