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Protein

Ral GTPase-activating protein subunit alpha-1

Gene

RALGAPA1

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

Functioni

Catalytic subunit of the heterodimeric RalGAP1 complex which acts as a GTPase activator for the Ras-like small GTPases RALA and RALB.By similarity

Caution

GO - Molecular functioni

  • GTPase activator activity Source: UniProtKB
  • protein heterodimerization activity Source: UniProtKB

GO - Biological processi

Keywordsi

Molecular functionGTPase activation

Names & Taxonomyi

Protein namesi
Recommended name:
Ral GTPase-activating protein subunit alpha-1
Alternative name(s):
GAP-related-interacting partner to E12
Short name:
GRIPE
GTPase-activating Rap/Ran-GAP domain-like 1
Tuberin-like protein 1
p240
Gene namesi
Name:RALGAPA1
Synonyms:GARNL1, KIAA0884, TULIP1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 14

Organism-specific databases

EuPathDBiHostDB:ENSG00000174373.15
HGNCiHGNC:17770 RALGAPA1
MIMi608884 gene
neXtProtiNX_Q6GYQ0

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

Cytoplasm, Nucleus

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi1903N → K: Has no effect on interaction with RALGAPB but causes loss of activity. 1 Publication1

Organism-specific databases

DisGeNETi253959
OpenTargetsiENSG00000174373
PharmGKBiPA165479278

Polymorphism and mutation databases

BioMutaiRALGAPA1
DMDMi51315850

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000567531 – 2036Ral GTPase-activating protein subunit alpha-1Add BLAST2036

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei711PhosphoserineCombined sources1
Modified residuei721PhosphoserineCombined sources1
Modified residuei754PhosphothreonineCombined sources1
Modified residuei773PhosphoserineCombined sources1
Modified residuei778PhosphothreonineCombined sources1
Modified residuei797PhosphoserineCombined sources1
Modified residuei860PhosphoserineCombined sources1
Modified residuei861PhosphoserineCombined sources1
Modified residuei864PhosphoserineCombined sources1
Modified residuei986PhosphoserineCombined sources1
Modified residuei990PhosphoserineCombined sources1
Modified residuei994PhosphoserineCombined sources1
Modified residuei1000PhosphoserineBy similarity1
Modified residuei1002PhosphothreonineBy similarity1
Modified residuei1004PhosphoserineBy similarity1
Modified residuei1478PhosphoserineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiQ6GYQ0
PaxDbiQ6GYQ0
PeptideAtlasiQ6GYQ0
PRIDEiQ6GYQ0

PTM databases

iPTMnetiQ6GYQ0
PhosphoSitePlusiQ6GYQ0

Expressioni

Tissue specificityi

Widely expressed.1 Publication

Gene expression databases

BgeeiENSG00000174373
CleanExiHS_GARNL1
ExpressionAtlasiQ6GYQ0 baseline and differential
GenevisibleiQ6GYQ0 HS

Organism-specific databases

HPAiHPA000851

Interactioni

Subunit structurei

Component of the heterodimeric RalGAP1 complex with RALGAPB. Heterodimerization is required for activity. Interacts with the HLH region of TCF3/isoform E12 (By similarity).By similarity

GO - Molecular functioni

  • protein heterodimerization activity Source: UniProtKB

Protein-protein interaction databases

BioGridi12899813 interactors.
IntActiQ6GYQ0 6 interactors.
MINTiQ6GYQ0
STRINGi9606.ENSP00000302647

Structurei

3D structure databases

ProteinModelPortaliQ6GYQ0
SMRiQ6GYQ0
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini1796 – 2004Rap-GAPPROSITE-ProRule annotationAdd BLAST209

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni1327 – 2035Minimal domain that binds to TCF3/E12By similarityAdd BLAST709

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili1716 – 1744Sequence analysisAdd BLAST29

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi379 – 382Poly-Ser4

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiKOG3686 Eukaryota
ENOG410XTIX LUCA
GeneTreeiENSGT00760000119182
HOVERGENiHBG051842
InParanoidiQ6GYQ0
OrthoDBiEOG091G005P
PhylomeDBiQ6GYQ0
TreeFamiTF324484

Family and domain databases

Gene3Di3.40.50.112101 hit
InterProiView protein in InterPro
IPR016024 ARM-type_fold
IPR035974 Rap/Ran-GAP_sf
IPR000331 Rap_GAP_dom
IPR027107 Tuberin/Ral-act_asu
PANTHERiPTHR10063 PTHR10063, 1 hit
PfamiView protein in Pfam
PF02145 Rap_GAP, 1 hit
SUPFAMiSSF111347 SSF111347, 1 hit
SSF48371 SSF48371, 1 hit
PROSITEiView protein in PROSITE
PS50085 RAPGAP, 1 hit

Sequences (7)i

Sequence statusi: Complete.

This entry describes 7 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q6GYQ0-1) [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
MFSKKPHGDV KKSTQKVLDT KKDALTRLKH LRIVIENAES IDLKQFFDQH
60 70 80 90 100
FSHIYYVFFE NFVTIEASLK QKGHKSQREE LDAILFIFEK ILQLLPERIH
110 120 130 140 150
QRWQFHSIGL ILKKLLHTGN SLKIRREGVR LFLLWLQALQ NNCSKEQLWM
160 170 180 190 200
FSCLIPGFSA PQSEHGPRTL DNLINPPLNL QETQVTIEEI TPLVPPQSGD
210 220 230 240 250
KGQEDLTSYF LEALLKYIVI QVKSLEWKNK ENQERGFSFL FSHFKKYYLP
260 270 280 290 300
YIFPNICKEN SLYHPILDIP QMRPKPHYVV IKKDAETNEA IYCTKEPFIK
310 320 330 340 350
ARVIVIRWLV SFWLEPKPHT GPHIPGMEGE VLPKNIQRAA ASLVSREESK
360 370 380 390 400
NDNADKTDRT TEPEQSHSNT STLTEREPSS SSLCSIDEEH LTDIEIVRRV
410 420 430 440 450
FSSKRSNVNF VTEIFRQAFL LPICEAAAMR KVVKVYQEWI QQEEKPLFMQ
460 470 480 490 500
EPEEIVITSS DLPCIENVTD HDISMEEGEK REEENGTNTA DHVRNSSWAK
510 520 530 540 550
NGSYQGALHN ASEEATEQNI RAGTQAVLQV FIINSSNIFL LEPANEIKNL
560 570 580 590 600
LDEHTDMCKR ILNIYRYMVV QVSMDKKTWE QMLLVLLRVT ESVLKMPSQA
610 620 630 640 650
FLQFQGKKNM TLAGRLAGPL FQTLIVAWIK ANLNVYISRE LWDDLLSVLS
660 670 680 690 700
SLTYWEELAT EWSLTMETLT KVLARNLYSL DLSDLPLDKL SEQKQKKHKG
710 720 730 740 750
KGVGHEFQKV SVDKSFSRGW SRDQPGQAPM RQRSATTTGS PGTEKARSIV
760 770 780 790 800
RQKTVDIDDA QILPRSTRVR HFSQSEETGN EVFGALNEEQ PLPRSSSTSD
810 820 830 840 850
ILEPFTVERA KVNKEDMSQK LPPLNSDIGG SSANVPDLMD EFIAERLRSG
860 870 880 890 900
NASTMTRRGS SPGSLEIPKD LPDILNKQNQ MRPIDDPGVP SEWTSPASAG
910 920 930 940 950
SSDLISSDSH SDSFSAFQYD GRKFDNFGFG TDTGVTSSAD VDSGSGHHQS
960 970 980 990 1000
AEEQEVASLT TLHIDSETSS LNQQAFSAEV ATITGSESAS PVHSPLGSRS
1010 1020 1030 1040 1050
QTPSPSTLNI DHMEQKDLQL DEKLHHSVLQ TPDDLEISEF PSECCSVMAG
1060 1070 1080 1090 1100
GTLTGWHADV ATVMWRRMLG ILGDVNSIMD PEIHAQVFDY LCELWQNLAK
1110 1120 1130 1140 1150
IRDNLGISTD NLTSPSPPVL IPPLRILTPW LFKATMLTDK YKQGKLHAYK
1160 1170 1180 1190 1200
LICNTMKRRQ DVSPNRDFLT HFYNIMHCGL LHIDQDIVNT IIKHCSPQFF
1210 1220 1230 1240 1250
SLGLPGATML IMDFIVAAGR VASSAFLNAP RVEAQVLLGS LVCFPNLYCE
1260 1270 1280 1290 1300
LPSLHPNIPD VAVSQFTDVK ELIIKTVLSS ARDEPSGPAR CVALCSLGIW
1310 1320 1330 1340 1350
ICEELVHESH HPQIKEALNV ICVSLKFTNK TVAHVACNML HMLVHYVPRL
1360 1370 1380 1390 1400
QIYQPDSPLK IIQILIATIT HLLPSTEASS YEMDKRLVVS LLLCLLDWIM
1410 1420 1430 1440 1450
ALPLKTLLQP FHATGAESDK TEKSVLNCIY KVLHGCVYGA QCFSNPRYFP
1460 1470 1480 1490 1500
MSLSDLASVD YDPFMHLESL KEPEPLHSPD SERSSKLQPV TEVKTQMQHG
1510 1520 1530 1540 1550
LISIAARTVI THLVNHLGHY PMSGGPAMLT SQVCENHDNH YSESTELSPE
1560 1570 1580 1590 1600
LFESPNIQFF VLNNTTLVSC IQIRSEENMP GGGLSAGLAS ANSNVRIIVR
1610 1620 1630 1640 1650
DLSGKYSWDS AILYGPPPVS GLSEPTSFML SLSHQEKPEE PPTSNECLED
1660 1670 1680 1690 1700
ITVKDGLSLQ FKRFRETVPT WDTIRDEEDV LDELLQYLGV TSPECLQRTG
1710 1720 1730 1740 1750
ISLNIPAPQP VCISEKQEND VINAILKQHT EEKEFVEKHF NDLNMKAVEQ
1760 1770 1780 1790 1800
DEPIPQKPQS AFYYCRLLLS ILGMNSWDKR RSFHLLKKNE KLLRELRNLD
1810 1820 1830 1840 1850
SRQCRETHKI AVFYVAEGQE DKHSILTNTG GSQAYEDFVA GLGWEVNLTN
1860 1870 1880 1890 1900
HCGFMGGLQK NKSTGLTTPY FATSTVEVIF HVSTRMPSDS DDSLTKKLRH
1910 1920 1930 1940 1950
LGNDEVHIVW SEHTRDYRRG IIPTEFGDVL IVIYPMKNHM FSIQIMKKPE
1960 1970 1980 1990 2000
VPFFGPLFDG AIVNGKVLPI MVRATAINAS RALKSLIPLY QNFYEERARY
2010 2020 2030
LQTIVQHHLE PTTFEDFAAQ VFSPAPYHHL PSDADH
Length:2,036
Mass (Da):229,832
Last modified:July 19, 2004 - v1
Checksum:i7ADF5487908C14CB
GO
Isoform 2 (identifier: Q6GYQ0-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     2035-2036: DH → GSYPEILPSETPTATQVDGADLASPMSPRTSKSRMSMKLRRSSGSANKS

Show »
Length:2,083
Mass (Da):234,731
Checksum:i0396D985F73CACD8
GO
Isoform 3 (identifier: Q6GYQ0-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     755-755: V → VAMRSRSIGECALPSAYIRSAKSAPVLIHTSKPFLPDIVLTPLSDELS
     1036-1057: EISEFPSECCSVMAGGTLTGWH → GNISKLDIYLFSFRASVSGDHK
     1058-2036: Missing.

Note: No experimental confirmation available.
Show »
Length:1,104
Mass (Da):124,733
Checksum:iC473679777FB18DE
GO
Isoform 4 (identifier: Q6GYQ0-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1898-2036: LRHLGNDEVH...YHHLPSDADH → MESHCVAQAG...RDGVSPCWPG

Note: No experimental confirmation available.
Show »
Length:1,961
Mass (Da):221,099
Checksum:i914BB0FC44C23584
GO
Isoform 5 (identifier: Q6GYQ0-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     2035-2036: DH → VERNAVIVLFLPKPPLENIGHLKAPTQRFYPVKLPQQRR

Note: No experimental confirmation available.
Show »
Length:2,073
Mass (Da):234,126
Checksum:i693F3F3BC1FB7162
GO
Isoform 6 (identifier: Q6GYQ0-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     755-755: V → VAMRSRSIGECALPSAYIRSAKSAPVLIHTSKPFLPDIVLTPLSDELS

Show »
Length:2,083
Mass (Da):234,854
Checksum:i43E1FEB75F774B33
GO
Isoform 7 (identifier: Q6GYQ0-7) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     812-825: VNKEDMSQKLPPLN → EAEQNATRGSTEGSVQSCNGLFWKESC

Note: No experimental confirmation available.
Show »
Length:2,049
Mass (Da):231,138
Checksum:i3556F0AB7752E829
GO

Sequence cautioni

The sequence BAC86772 differs from that shown. Reason: Erroneous initiation.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti779G → A in BAA74907 (PubMed:10048485).Curated1
Sequence conflicti1270K → N in CAD39026 (PubMed:17974005).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_019804931T → A1 PublicationCorresponds to variant dbSNP:rs2274068Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_011324755V → VAMRSRSIGECALPSAYIRS AKSAPVLIHTSKPFLPDIVL TPLSDELS in isoform 3 and isoform 6. 2 Publications1
Alternative sequenceiVSP_054485812 – 825VNKED…LPPLN → EAEQNATRGSTEGSVQSCNG LFWKESC in isoform 7. 1 PublicationAdd BLAST14
Alternative sequenceiVSP_0113251036 – 1057EISEF…LTGWH → GNISKLDIYLFSFRASVSGD HK in isoform 3. 1 PublicationAdd BLAST22
Alternative sequenceiVSP_0113261058 – 2036Missing in isoform 3. 1 PublicationAdd BLAST979
Alternative sequenceiVSP_0113271898 – 2036LRHLG…SDADH → MESHCVAQAGVQWHDLRSLQ LLPPRFKESSLLSLLSSWDY RCMPPHLSNFCIFSRDGVSP CWPG in isoform 4. 1 PublicationAdd BLAST139
Alternative sequenceiVSP_0113282035 – 2036DH → GSYPEILPSETPTATQVDGA DLASPMSPRTSKSRMSMKLR RSSGSANKS in isoform 2. 2 Publications2
Alternative sequenceiVSP_0113292035 – 2036DH → VERNAVIVLFLPKPPLENIG HLKAPTQRFYPVKLPQQRR in isoform 5. 1 Publication2

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY596970 mRNA Translation: AAT49271.1
AY596971 mRNA Translation: AAT49272.1
AB511280 mRNA Translation: BAH83561.1
AB020691 mRNA Translation: BAA74907.1
AL137818 Genomic DNA No translation available.
AL160231 Genomic DNA No translation available.
AL162311 Genomic DNA No translation available.
BC042013 mRNA Translation: AAH42013.1
BC042045 mRNA Translation: AAH42045.1
BC150596 mRNA Translation: AAI50597.1
AL834362 mRNA Translation: CAD39026.1
AK126975 mRNA Translation: BAC86772.1 Different initiation.
CCDSiCCDS32064.1 [Q6GYQ0-2]
CCDS32065.1 [Q6GYQ0-1]
CCDS61439.1 [Q6GYQ0-7]
CCDS61440.1 [Q6GYQ0-6]
RefSeqiNP_001269972.1, NM_001283043.2 [Q6GYQ0-7]
NP_001269973.1, NM_001283044.2 [Q6GYQ0-6]
NP_001317004.1, NM_001330075.2
NP_001333172.1, NM_001346243.1 [Q6GYQ0-1]
NP_001333174.1, NM_001346245.1 [Q6GYQ0-6]
NP_001333175.1, NM_001346246.1
NP_001333176.1, NM_001346247.1
NP_001333177.1, NM_001346248.1
NP_001333178.1, NM_001346249.1
NP_055805.1, NM_014990.2 [Q6GYQ0-1]
NP_919277.2, NM_194301.3 [Q6GYQ0-2]
UniGeneiHs.113150

Genome annotation databases

EnsembliENST00000307138; ENSP00000302647; ENSG00000174373 [Q6GYQ0-2]
ENST00000382366; ENSP00000371803; ENSG00000174373 [Q6GYQ0-7]
ENST00000389698; ENSP00000374348; ENSG00000174373 [Q6GYQ0-1]
ENST00000553892; ENSP00000451877; ENSG00000174373 [Q6GYQ0-6]
GeneIDi253959
KEGGihsa:253959
UCSCiuc001wti.3 human [Q6GYQ0-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiRGPA1_HUMAN
AccessioniPrimary (citable) accession number: Q6GYQ0
Secondary accession number(s): A6NMA4
, B9EK38, C5NU19, O94960, Q6GYP9, Q6ZT23, Q86YF3, Q86YF5, Q8ND69
Entry historyiIntegrated into UniProtKB/Swiss-Prot: August 16, 2004
Last sequence update: July 19, 2004
Last modified: April 25, 2018
This is version 131 of the entry and version 1 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

Complete proteome, Reference proteome