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Protein

Rap1 GTPase-activating protein 1

Gene

RAP1GAP

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

GTPase activator for the nuclear Ras-related regulatory protein RAP-1A (KREV-1), converting it to the putatively inactive GDP-bound state.1 Publication

Caution

GO - Molecular functioni

  • GTPase activator activity Source: UniProtKB
  • GTPase activity Source: UniProtKB
  • protein homodimerization activity Source: UniProtKB
  • Ras GTPase binding Source: UniProtKB

GO - Biological processi

  • axon guidance Source: Reactome
  • negative regulation of microvillus assembly Source: UniProtKB
  • positive regulation of GTPase activity Source: UniProtKB
  • regulation of GTPase activity Source: UniProtKB
  • regulation of small GTPase mediated signal transduction Source: InterPro
  • signal transduction Source: ProtInc

Keywordsi

Molecular functionGTPase activation

Enzyme and pathway databases

ReactomeiR-HSA-392517 Rap1 signalling
R-HSA-8853659 RET signaling
SignaLinkiP47736
SIGNORiP47736

Names & Taxonomyi

Protein namesi
Recommended name:
Rap1 GTPase-activating protein 1
Short name:
Rap1GAP
Short name:
Rap1GAP1
Gene namesi
Name:RAP1GAP
Synonyms:KIAA0474, RAP1GA1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

EuPathDBiHostDB:ENSG00000076864.19
HGNCiHGNC:9858 RAP1GAP
MIMi600278 gene
neXtProtiNX_P47736

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Golgi apparatus, Membrane

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi100F → E: Impaired dimerization; when associated with E-173. 1 Publication1
Mutagenesisi173L → E: Impaired dimerization; when associated with E-100. 1 Publication1
Mutagenesisi207E → A: Reduces GTPase activation. 1 Publication1
Mutagenesisi267H → A: Abolishes GTPase activation. 1 Publication1
Mutagenesisi286R → A: Reduces GTPase activation. 1 Publication1
Mutagenesisi287H → A: Abolishes GTPase activation. 1 Publication1
Mutagenesisi290N → A or K: Abolishes GTPase activation. 1 Publication1
Mutagenesisi291D → A: Abolishes GTPase activation. 1 Publication1
Mutagenesisi388R → A or P: Reduces GTPase activation. 1 Publication1

Organism-specific databases

DisGeNETi5909
OpenTargetsiENSG00000076864
PharmGKBiPA34220

Polymorphism and mutation databases

BioMutaiRAP1GAP
DMDMi215273877

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000567431 – 663Rap1 GTPase-activating protein 1Add BLAST663

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei441PhosphoserineCombined sources1
Modified residuei484PhosphoserineCombined sources1
Modified residuei499PhosphoserineCombined sources1
Modified residuei515PhosphoserineCombined sources1
Modified residuei541PhosphoserineBy similarity1
Modified residuei542PhosphoserineBy similarity1
Isoform 3 (identifier: P47736-3)
Modified residuei17PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiP47736
PaxDbiP47736
PeptideAtlasiP47736
PRIDEiP47736

PTM databases

iPTMnetiP47736
PhosphoSitePlusiP47736

Expressioni

Tissue specificityi

Significant expression seen in the brain, kidney and pancreas. Abundant in the cerebral cortex and expressed at much lower levels in the spinal cord. Not detected in the lymphoid tissues.1 Publication

Inductioni

By 12-O-tetradecanoylphorbol-13-acetate (TPA) in promyelocytic HL-60 cells.1 Publication

Gene expression databases

BgeeiENSG00000076864
CleanExiHS_RAP1GAP
ExpressionAtlasiP47736 baseline and differential
GenevisibleiP47736 HS

Organism-specific databases

HPAiHPA001922

Interactioni

Subunit structurei

Homodimer and heterodimer with RAP1B.2 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
RAP1BP612243EBI-722307,EBI-358143

GO - Molecular functioni

  • protein homodimerization activity Source: UniProtKB
  • Ras GTPase binding Source: UniProtKB

Protein-protein interaction databases

BioGridi11184417 interactors.
IntActiP47736 10 interactors.
MINTiP47736
STRINGi9606.ENSP00000290101

Structurei

Secondary structure

1663
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi85 – 88Combined sources4
Helixi89 – 93Combined sources5
Turni94 – 96Combined sources3
Beta strandi100 – 106Combined sources7
Turni107 – 109Combined sources3
Beta strandi110 – 121Combined sources12
Beta strandi124 – 132Combined sources9
Beta strandi137 – 143Combined sources7
Helixi153 – 160Combined sources8
Helixi177 – 186Combined sources10
Beta strandi192 – 200Combined sources9
Helixi207 – 211Combined sources5
Helixi218 – 227Combined sources10
Beta strandi228 – 233Combined sources6
Beta strandi245 – 247Combined sources3
Beta strandi252 – 258Combined sources7
Beta strandi263 – 268Combined sources6
Helixi269 – 271Combined sources3
Helixi282 – 288Combined sources7
Beta strandi292 – 300Combined sources9
Helixi306 – 308Combined sources3
Beta strandi316 – 323Combined sources8
Beta strandi327 – 329Combined sources3
Beta strandi331 – 338Combined sources8
Beta strandi354 – 358Combined sources5
Helixi359 – 376Combined sources18
Helixi380 – 409Combined sources30

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1SRQX-ray2.90A/B/C/D75-415[»]
3BRWX-ray3.40A/B/C75-415[»]
ProteinModelPortaliP47736
SMRiP47736
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP47736

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini1 – 17GoLocoPROSITE-ProRule annotationAdd BLAST17
Domaini181 – 397Rap-GAPPROSITE-ProRule annotationAdd BLAST217

Phylogenomic databases

eggNOGiKOG3686 Eukaryota
ENOG410XTIX LUCA
GeneTreeiENSGT00760000119182
HOGENOMiHOG000231640
HOVERGENiHBG016371
InParanoidiP47736
KOiK17700
PhylomeDBiP47736
TreeFamiTF318626

Family and domain databases

Gene3Di3.40.50.112101 hit
InterProiView protein in InterPro
IPR003109 GoLoco_motif
IPR035974 Rap/Ran-GAP_sf
IPR000331 Rap_GAP_dom
PfamiView protein in Pfam
PF02188 GoLoco, 1 hit
PF02145 Rap_GAP, 1 hit
SMARTiView protein in SMART
SM00390 GoLoco, 1 hit
SUPFAMiSSF111347 SSF111347, 1 hit
PROSITEiView protein in PROSITE
PS50877 GOLOCO, 1 hit
PS50085 RAPGAP, 1 hit

Sequences (4)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: P47736-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MIEKMQGSRM DEQRCSFPPP LKTEEDYIPY PSVHEVLGRE GPFPLILLPQ
60 70 80 90 100
FGGYWIEGTN HEITSIPETE PLQSPTTKVK LECNPTARIY RKHFLGKEHF
110 120 130 140 150
NYYSLDAALG HLVFSLKYDV IGDQEHLRLL LRTKCRTYHD VIPISCLTEF
160 170 180 190 200
PNVVQMAKLV CEDVNVDRFY PVLYPKASRL IVTFDEHVIS NNFKFGVIYQ
210 220 230 240 250
KLGQTSEEEL FSTNEESPAF VEFLEFLGQK VKLQDFKGFR GGLDVTHGQT
260 270 280 290 300
GTESVYCNFR NKEIMFHVST KLPYTEGDAQ QLQRKRHIGN DIVAVVFQDE
310 320 330 340 350
NTPFVPDMIA SNFLHAYVVV QAEGGGPDGP LYKVSVTARD DVPFFGPPLP
360 370 380 390 400
DPAVFRKGPE FQEFLLTKLI NAEYACYKAE KFAKLEERTR AALLETLYEE
410 420 430 440 450
LHIHSQSMMG LGGDEDKMEN GSGGGGFFES FKRVIRSRSQ SMDAMGLSNK
460 470 480 490 500
KPNTVSTSHS GSFAPNNPDL AKAAGISLIV PGKSPTRKKS GPFGSRRSSA
510 520 530 540 550
IGIENIQEVQ EKRESPPAGQ KTPDSGHVSQ EPKSENSSTQ SSPEMPTTKN
560 570 580 590 600
RAETAAQRAE ALKDFSRSSS SASSFASVVE ETEGVDGEDT GLESVSSSGT
610 620 630 640 650
PHKRDSFIYS TWLEDSVSTT SGGSSPGPSR SPHPDAGKLG DPACPEIKIQ
660
LEASEQHMPQ LGC
Length:663
Mass (Da):73,361
Last modified:November 25, 2008 - v2
Checksum:i89B307CC67F975DD
GO
Isoform 2 (identifier: P47736-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     476-476: I → ISLLIPGKSASRFGRRGSAIGIGTVEE
     626-633: Missing.

Show »
Length:681
Mass (Da):75,187
Checksum:i7B2B680087CFCCB4
GO
Isoform 3 (identifier: P47736-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MAQLRPAVPPGRPRRGSLPAGASWQNTDLFEM
     280-280: Missing.

Show »
Length:693
Mass (Da):76,592
Checksum:iBEB784BF1F8E67F3
GO
Isoform 4 (identifier: P47736-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MSGRKRSFTFGAYGGVDKSFTSRRSVWRSDGQNQHFPQALDLSRVNLVPSYTPSLYPKNTDLFEM

Note: No experimental confirmation available.
Show »
Length:727
Mass (Da):80,645
Checksum:iB106FC67B06E1615
GO

Sequence cautioni

The sequence AAH54490 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BAA32319 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti304F → L in AAH54490 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_047792107A → T1 PublicationCorresponds to variant dbSNP:rs2275363Ensembl.1
Natural variantiVAR_035547257C → R in a breast cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_035548609Y → C in a breast cancer sample; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs147394161Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0402601M → MAQLRPAVPPGRPRRGSLPA GASWQNTDLFEM in isoform 3. 1 Publication1
Alternative sequenceiVSP_0470251M → MSGRKRSFTFGAYGGVDKSF TSRRSVWRSDGQNQHFPQAL DLSRVNLVPSYTPSLYPKNT DLFEM in isoform 4. Curated1
Alternative sequenceiVSP_040261280Missing in isoform 3. 1 Publication1
Alternative sequenceiVSP_035256476I → ISLLIPGKSASRFGRRGSAI GIGTVEE in isoform 2. 1 Publication1
Alternative sequenceiVSP_035257626 – 633Missing in isoform 2. 1 Publication8

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M64788 mRNA Translation: AAA60252.1
AB007943 mRNA Translation: BAA32319.3 Different initiation.
AL359815 Genomic DNA No translation available.
CH471134 Genomic DNA Translation: EAW94980.1
CH471134 Genomic DNA Translation: EAW94981.1
AB003930 mRNA Translation: BAA83674.1
BC054490 mRNA Translation: AAH54490.1 Different initiation.
CCDSiCCDS218.1 [P47736-1]
CCDS53276.1 [P47736-2]
CCDS53277.1 [P47736-4]
PIRiA39897
B39897
RefSeqiNP_001139129.1, NM_001145657.1 [P47736-2]
NP_001139130.1, NM_001145658.1 [P47736-4]
NP_002876.2, NM_002885.2 [P47736-1]
XP_005246012.2, XM_005245955.3 [P47736-2]
XP_016857459.1, XM_017001970.1 [P47736-2]
XP_016857462.1, XM_017001973.1 [P47736-1]
XP_016857473.1, XM_017001984.1 [P47736-2]
XP_016857475.1, XM_017001986.1
XP_016857476.1, XM_017001987.1 [P47736-1]
XP_016857477.1, XM_017001988.1 [P47736-1]
UniGeneiHs.148178

Genome annotation databases

EnsembliENST00000374765; ENSP00000363897; ENSG00000076864 [P47736-1]
ENST00000495204; ENSP00000434033; ENSG00000076864 [P47736-4]
ENST00000542643; ENSP00000441661; ENSG00000076864 [P47736-2]
GeneIDi5909
KEGGihsa:5909
UCSCiuc001bew.4 human [P47736-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiRPGP1_HUMAN
AccessioniPrimary (citable) accession number: P47736
Secondary accession number(s): J3QSS6
, O75062, Q5T3S9, Q5T3T4, Q7Z5S8, Q9UQ51
Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 1, 1996
Last sequence update: November 25, 2008
Last modified: March 28, 2018
This is version 157 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome