UniProtKB - Q6GYQ0 (RGPA1_HUMAN)
Protein
Ral GTPase-activating protein subunit alpha-1
Gene
RALGAPA1
Organism
Homo sapiens (Human)
Status
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
GO - Molecular functioni
- GTPase activator activity Source: UniProtKB
- protein heterodimerization activity Source: UniProtKB
GO - Biological processi
- activation of GTPase activity Source: UniProtKB
- regulation of small GTPase mediated signal transduction Source: InterPro
Keywordsi
Molecular function | GTPase activation |
Enzyme and pathway databases
PathwayCommonsi | Q6GYQ0 |
Names & Taxonomyi
Protein namesi | Recommended name: Ral GTPase-activating protein subunit alpha-1Alternative 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 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:17770, RALGAPA1 |
MIMi | 608884, gene |
neXtProti | NX_Q6GYQ0 |
VEuPathDBi | HostDB:ENSG00000174373.15 |
Pathology & Biotechi
Involvement in diseasei
Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation (NEDHRIT)1 Publication
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive disorder characterized by profound neurodevelopmental disability, muscular hypotonia, feeding abnormalities, recurrent fever episodes, infantile spasms, and moderate dysmorphic facial features. Brain imaging shows thin corpus or dysplastic corpus callosum, and additional unspecific abnormalities including gray matter heterotopias, ectopic posterior pituitary, signal abnormalities in basal ganglia, and stratum subependymale.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_083728 | 204 – 2036 | Missing in NEDHRIT. 1 PublicationAdd BLAST | 1833 | |
Natural variantiVAR_083729 | 376 – 2036 | Missing in NEDHRIT. 1 PublicationAdd BLAST | 1661 | |
Natural variantiVAR_083730 | 1076 | N → S in NEDHRIT; undetectable protein expression. 1 Publication | 1 | |
Natural variantiVAR_083731 | 1911 – 2036 | Missing in NEDHRIT. 1 PublicationAdd BLAST | 126 |
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 1903 | N → K: Has no effect on interaction with RALGAPB but causes loss of activity. 1 Publication | 1 |
Keywords - Diseasei
Disease variantOrganism-specific databases
DisGeNETi | 253959 |
MalaCardsi | RALGAPA1 |
MIMi | 618797, phenotype |
OpenTargetsi | ENSG00000174373 |
PharmGKBi | PA165479278 |
Miscellaneous databases
Pharosi | Q6GYQ0, Tbio |
Genetic variation databases
BioMutai | RALGAPA1 |
DMDMi | 51315850 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000056753 | 1 – 2036 | Ral GTPase-activating protein subunit alpha-1Add BLAST | 2036 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 711 | PhosphoserineCombined sources | 1 | |
Modified residuei | 721 | PhosphoserineCombined sources | 1 | |
Modified residuei | 754 | PhosphothreonineCombined sources | 1 | |
Modified residuei | 773 | PhosphoserineCombined sources | 1 | |
Modified residuei | 778 | PhosphothreonineCombined sources | 1 | |
Modified residuei | 797 | PhosphoserineCombined sources | 1 | |
Modified residuei | 860 | PhosphoserineCombined sources | 1 | |
Modified residuei | 861 | PhosphoserineCombined sources | 1 | |
Modified residuei | 864 | PhosphoserineCombined sources | 1 | |
Modified residuei | 986 | PhosphoserineCombined sources | 1 | |
Modified residuei | 990 | PhosphoserineCombined sources | 1 | |
Modified residuei | 994 | PhosphoserineCombined sources | 1 | |
Modified residuei | 1000 | PhosphoserineBy similarity | 1 | |
Modified residuei | 1002 | PhosphothreonineBy similarity | 1 | |
Modified residuei | 1004 | PhosphoserineBy similarity | 1 | |
Modified residuei | 1478 | PhosphoserineBy similarity | 1 |
Keywords - PTMi
PhosphoproteinProteomic databases
EPDi | Q6GYQ0 |
jPOSTi | Q6GYQ0 |
MassIVEi | Q6GYQ0 |
MaxQBi | Q6GYQ0 |
PaxDbi | Q6GYQ0 |
PeptideAtlasi | Q6GYQ0 |
PRIDEi | Q6GYQ0 |
ProteomicsDBi | 66328 [Q6GYQ0-1] 66329 [Q6GYQ0-2] 66330 [Q6GYQ0-3] 66331 [Q6GYQ0-4] 66332 [Q6GYQ0-5] 66333 [Q6GYQ0-6] 7535 |
PTM databases
iPTMneti | Q6GYQ0 |
PhosphoSitePlusi | Q6GYQ0 |
Expressioni
Tissue specificityi
Widely expressed.1 Publication
Gene expression databases
Bgeei | ENSG00000174373, Expressed in corpus callosum and 238 other tissues |
ExpressionAtlasi | Q6GYQ0, baseline and differential |
Genevisiblei | Q6GYQ0, HS |
Organism-specific databases
HPAi | ENSG00000174373, Low tissue specificity |
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 similarityGO - Molecular functioni
- protein heterodimerization activity Source: UniProtKB
Protein-protein interaction databases
BioGRIDi | 128998, 27 interactors |
IntActi | Q6GYQ0, 16 interactors |
MINTi | Q6GYQ0 |
STRINGi | 9606.ENSP00000302647 |
Miscellaneous databases
RNActi | Q6GYQ0, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 1796 – 2004 | Rap-GAPPROSITE-ProRule annotationAdd BLAST | 209 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 1327 – 2035 | Minimal domain that binds to TCF3/E12By similarityAdd BLAST | 709 |
Coiled coil
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Coiled coili | 1716 – 1744 | Sequence analysisAdd BLAST | 29 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 379 – 382 | Poly-Ser | 4 |
Keywords - Domaini
Coiled coilPhylogenomic databases
eggNOGi | KOG3686, Eukaryota |
GeneTreei | ENSGT00950000183139 |
HOGENOMi | CLU_001676_0_0_1 |
InParanoidi | Q6GYQ0 |
OrthoDBi | 157372at2759 |
PhylomeDBi | Q6GYQ0 |
TreeFami | TF324484 |
Family and domain databases
Gene3Di | 3.40.50.11210, 1 hit |
InterProi | View protein in InterPro IPR016024, ARM-type_fold IPR035974, Rap/Ran-GAP_sf IPR000331, Rap_GAP_dom IPR027107, Tuberin/Ral-act_asu |
PANTHERi | PTHR10063, PTHR10063, 1 hit |
Pfami | View protein in Pfam PF02145, Rap_GAP, 1 hit |
SUPFAMi | SSF111347, SSF111347, 1 hit SSF48371, SSF48371, 1 hit |
PROSITEi | View protein in PROSITE PS50085, RAPGAP, 1 hit |
s (7+)i Sequence
Sequence statusi: Complete.
This entry describes 7 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 7 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All
Isoform 1 (identifier: Q6GYQ0-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
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
Computationally mapped potential isoform sequencesi
There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketA0A1B0GUI1 | A0A1B0GUI1_HUMAN | Ral GTPase-activating protein subun... | RALGAPA1 | 2,495 | Annotation score: | ||
H0YJB5 | H0YJB5_HUMAN | Ral GTPase-activating protein subun... | RALGAPA1 | 722 | Annotation score: | ||
H0YJ04 | H0YJ04_HUMAN | Ral GTPase-activating protein subun... | RALGAPA1 | 356 | Annotation score: |
Sequence cautioni
The sequence BAC86772 differs from that shown. Reason: Erroneous initiation.Curated
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 779 | G → A in BAA74907 (PubMed:10048485).Curated | 1 | |
Sequence conflicti | 1270 | K → N in CAD39026 (PubMed:17974005).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_083728 | 204 – 2036 | Missing in NEDHRIT. 1 PublicationAdd BLAST | 1833 | |
Natural variantiVAR_083729 | 376 – 2036 | Missing in NEDHRIT. 1 PublicationAdd BLAST | 1661 | |
Natural variantiVAR_019804 | 931 | T → A1 PublicationCorresponds to variant dbSNP:rs2274068Ensembl. | 1 | |
Natural variantiVAR_083730 | 1076 | N → S in NEDHRIT; undetectable protein expression. 1 Publication | 1 | |
Natural variantiVAR_083731 | 1911 – 2036 | Missing in NEDHRIT. 1 PublicationAdd BLAST | 126 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_011324 | 755 | V → VAMRSRSIGECALPSAYIRS AKSAPVLIHTSKPFLPDIVL TPLSDELS in isoform 3 and isoform 6. 2 Publications | 1 | |
Alternative sequenceiVSP_054485 | 812 – 825 | VNKED…LPPLN → EAEQNATRGSTEGSVQSCNG LFWKESC in isoform 7. 1 PublicationAdd BLAST | 14 | |
Alternative sequenceiVSP_011325 | 1036 – 1057 | EISEF…LTGWH → GNISKLDIYLFSFRASVSGD HK in isoform 3. 1 PublicationAdd BLAST | 22 | |
Alternative sequenceiVSP_011326 | 1058 – 2036 | Missing in isoform 3. 1 PublicationAdd BLAST | 979 | |
Alternative sequenceiVSP_011327 | 1898 – 2036 | LRHLG…SDADH → MESHCVAQAGVQWHDLRSLQ LLPPRFKESSLLSLLSSWDY RCMPPHLSNFCIFSRDGVSP CWPG in isoform 4. 1 PublicationAdd BLAST | 139 | |
Alternative sequenceiVSP_011328 | 2035 – 2036 | DH → GSYPEILPSETPTATQVDGA DLASPMSPRTSKSRMSMKLR RSSGSANKS in isoform 2. 2 Publications | 2 | |
Alternative sequenceiVSP_011329 | 2035 – 2036 | DH → VERNAVIVLFLPKPPLENIG HLKAPTQRFYPVKLPQQRR in isoform 5. 1 Publication | 2 |
Sequence databases
Genome annotation databases
Ensembli | ENST00000307138; ENSP00000302647; ENSG00000174373 [Q6GYQ0-2] ENST00000382366; ENSP00000371803; ENSG00000174373 [Q6GYQ0-7] ENST00000389698; ENSP00000374348; ENSG00000174373 [Q6GYQ0-1] ENST00000553892; ENSP00000451877; ENSG00000174373 [Q6GYQ0-6] |
GeneIDi | 253959 |
KEGGi | hsa:253959 |
UCSCi | uc001wti.3, human [Q6GYQ0-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
3D structure databases
SMRi | Q6GYQ0 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 128998, 27 interactors |
IntActi | Q6GYQ0, 16 interactors |
MINTi | Q6GYQ0 |
STRINGi | 9606.ENSP00000302647 |
PTM databases
iPTMneti | Q6GYQ0 |
PhosphoSitePlusi | Q6GYQ0 |
Genetic variation databases
BioMutai | RALGAPA1 |
DMDMi | 51315850 |
Proteomic databases
EPDi | Q6GYQ0 |
jPOSTi | Q6GYQ0 |
MassIVEi | Q6GYQ0 |
MaxQBi | Q6GYQ0 |
PaxDbi | Q6GYQ0 |
PeptideAtlasi | Q6GYQ0 |
PRIDEi | Q6GYQ0 |
ProteomicsDBi | 66328 [Q6GYQ0-1] 66329 [Q6GYQ0-2] 66330 [Q6GYQ0-3] 66331 [Q6GYQ0-4] 66332 [Q6GYQ0-5] 66333 [Q6GYQ0-6] 7535 |
Protocols and materials databases
Antibodypediai | 79, 77 antibodies |
DNASUi | 253959 |
Genome annotation databases
Ensembli | ENST00000307138; ENSP00000302647; ENSG00000174373 [Q6GYQ0-2] ENST00000382366; ENSP00000371803; ENSG00000174373 [Q6GYQ0-7] ENST00000389698; ENSP00000374348; ENSG00000174373 [Q6GYQ0-1] ENST00000553892; ENSP00000451877; ENSG00000174373 [Q6GYQ0-6] |
GeneIDi | 253959 |
KEGGi | hsa:253959 |
UCSCi | uc001wti.3, human [Q6GYQ0-1] |
Organism-specific databases
CTDi | 253959 |
DisGeNETi | 253959 |
GeneCardsi | RALGAPA1 |
HGNCi | HGNC:17770, RALGAPA1 |
HPAi | ENSG00000174373, Low tissue specificity |
MalaCardsi | RALGAPA1 |
MIMi | 608884, gene 618797, phenotype |
neXtProti | NX_Q6GYQ0 |
OpenTargetsi | ENSG00000174373 |
PharmGKBi | PA165479278 |
VEuPathDBi | HostDB:ENSG00000174373.15 |
HUGEi | Search... |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG3686, Eukaryota |
GeneTreei | ENSGT00950000183139 |
HOGENOMi | CLU_001676_0_0_1 |
InParanoidi | Q6GYQ0 |
OrthoDBi | 157372at2759 |
PhylomeDBi | Q6GYQ0 |
TreeFami | TF324484 |
Enzyme and pathway databases
PathwayCommonsi | Q6GYQ0 |
Miscellaneous databases
BioGRID-ORCSi | 253959, 20 hits in 884 CRISPR screens |
ChiTaRSi | RALGAPA1, human |
GeneWikii | GARNL1 |
GenomeRNAii | 253959 |
Pharosi | Q6GYQ0, Tbio |
PROi | PR:Q6GYQ0 |
RNActi | Q6GYQ0, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000174373, Expressed in corpus callosum and 238 other tissues |
ExpressionAtlasi | Q6GYQ0, baseline and differential |
Genevisiblei | Q6GYQ0, HS |
Family and domain databases
Gene3Di | 3.40.50.11210, 1 hit |
InterProi | View protein in InterPro IPR016024, ARM-type_fold IPR035974, Rap/Ran-GAP_sf IPR000331, Rap_GAP_dom IPR027107, Tuberin/Ral-act_asu |
PANTHERi | PTHR10063, PTHR10063, 1 hit |
Pfami | View protein in Pfam PF02145, Rap_GAP, 1 hit |
SUPFAMi | SSF111347, SSF111347, 1 hit SSF48371, SSF48371, 1 hit |
PROSITEi | View protein in PROSITE PS50085, RAPGAP, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | RGPA1_HUMAN | |
Accessioni | Q6GYQ0Primary (citable) accession number: Q6GYQ0 Secondary accession number(s): A6NMA4 Q8ND69 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | August 16, 2004 |
Last sequence update: | July 19, 2004 | |
Last modified: | February 10, 2021 | |
This is version 151 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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
Reference proteomeDocuments
- Human chromosome 14
Human chromosome 14: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot