UniProtKB - Q5JS13 (RGPS1_HUMAN)
Ras-specific guanine nucleotide-releasing factor RalGPS1
RALGPS1
Functioni
GO - Molecular functioni
- guanyl-nucleotide exchange factor activity Source: FlyBase
GO - Biological processi
- intracellular signal transduction Source: UniProtKB
- regulation of Ral protein signal transduction Source: FlyBase
- small GTPase mediated signal transduction Source: InterPro
Keywordsi
Molecular function | Guanine-nucleotide releasing factor |
Enzyme and pathway databases
PathwayCommonsi | Q5JS13 |
SIGNORi | Q5JS13 |
Names & Taxonomyi
Protein namesi | Recommended name: Ras-specific guanine nucleotide-releasing factor RalGPS1Alternative name(s): Ral GEF with PH domain and SH3-binding motif 1 Ral guanine nucleotide exchange factor 2 Short name: RalGEF 2 RalA exchange factor RalGPS1 |
Gene namesi | Name:RALGPS1 Synonyms:KIAA0351, RALGEF2 |
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:16851, RALGPS1 |
MIMi | 614444, gene |
neXtProti | NX_Q5JS13 |
VEuPathDBi | HostDB:ENSG00000136828.18 |
Subcellular locationi
Cytoplasm and Cytosol
- Cytoplasm 1 Publication
Plasma membrane
- Cell membrane 1 Publication
Note: Associates with membranes through the PH domain.
Plasma Membrane
- plasma membrane Source: UniProtKB-SubCell
Other locations
- cytoplasm Source: UniProtKB-SubCell
Keywords - Cellular componenti
Cell membrane, Cytoplasm, MembranePathology & Biotechi
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 148 | L → A: Loss of activity. 1 Publication | 1 |
Organism-specific databases
DisGeNETi | 9649 |
OpenTargetsi | ENSG00000136828 |
PharmGKBi | PA134907502 |
Miscellaneous databases
Pharosi | Q5JS13, Tbio |
Genetic variation databases
BioMutai | RALGPS1 |
DMDMi | 189040074 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000333192 | 1 – 557 | Ras-specific guanine nucleotide-releasing factor RalGPS1Add BLAST | 557 |
Proteomic databases
jPOSTi | Q5JS13 |
MassIVEi | Q5JS13 |
MaxQBi | Q5JS13 |
PaxDbi | Q5JS13 |
PeptideAtlasi | Q5JS13 |
PRIDEi | Q5JS13 |
ProteomicsDBi | 19273 63124 [Q5JS13-1] 63125 [Q5JS13-2] 63126 [Q5JS13-3] 63127 [Q5JS13-4] 63128 [Q5JS13-5] 63129 [Q5JS13-6] |
PTM databases
iPTMneti | Q5JS13 |
PhosphoSitePlusi | Q5JS13 |
Expressioni
Tissue specificityi
Gene expression databases
Bgeei | ENSG00000136828, Expressed in cortical plate and 214 other tissues |
ExpressionAtlasi | Q5JS13, baseline and differential |
Genevisiblei | Q5JS13, HS |
Organism-specific databases
HPAi | ENSG00000136828, Low tissue specificity |
Interactioni
Subunit structurei
Interacts with the SH3 domains of GRB2, NCK1, PLCG1 and SRC.
1 PublicationBinary interactionsi
Isoform 3 [Q5JS13-3]
With | #Exp. | IntAct |
---|---|---|
CEP76 [Q8TAP6] | 3 | EBI-12217281,EBI-742887 |
Protein-protein interaction databases
BioGRIDi | 115007, 9 interactors |
IntActi | Q5JS13, 3 interactors |
MINTi | Q5JS13 |
STRINGi | 9606.ENSP00000259351 |
Miscellaneous databases
RNActi | Q5JS13, protein |
Structurei
Secondary structure
3D structure databases
SMRi | Q5JS13 |
ModBasei | Search... |
PDBe-KBi | Search... |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 50 – 289 | Ras-GEFPROSITE-ProRule annotationAdd BLAST | 240 | |
Domaini | 431 – 543 | PHPROSITE-ProRule annotationAdd BLAST | 113 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 433 – 557 | Required for stimulation of nucleotide exchange by RALAAdd BLAST | 125 |
Motif
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Motifi | 330 – 333 | PXXP | 4 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 21 – 26 | Poly-Ser | 6 |
Domaini
Phylogenomic databases
eggNOGi | KOG3417, Eukaryota |
GeneTreei | ENSGT00940000154079 |
HOGENOMi | CLU_021333_0_1_1 |
InParanoidi | Q5JS13 |
OMAi | CKSNKPQ |
OrthoDBi | 343666at2759 |
PhylomeDBi | Q5JS13 |
TreeFami | TF352150 |
Family and domain databases
CDDi | cd00155, RasGEF, 1 hit |
Gene3Di | 1.10.840.10, 1 hit 2.30.29.30, 1 hit |
InterProi | View protein in InterPro IPR011993, PH-like_dom_sf IPR001849, PH_domain IPR008937, Ras-like_GEF IPR023578, Ras_GEF_dom_sf IPR001895, RASGEF_cat_dom IPR036964, RASGEF_cat_dom_sf |
PANTHERi | PTHR23113, PTHR23113, 1 hit |
Pfami | View protein in Pfam PF00169, PH, 1 hit PF00617, RasGEF, 1 hit |
SMARTi | View protein in SMART SM00233, PH, 1 hit SM00147, RasGEF, 1 hit |
SUPFAMi | SSF48366, SSF48366, 1 hit |
PROSITEi | View protein in PROSITE PS50003, PH_DOMAIN, 1 hit PS50009, RASGEF_CAT, 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 2 potential isoforms that are computationally mapped.Show allAlign All
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
MYKRNGLMAS VLVTSATPQG SSSSDSLEGQ SCDYASKSYD AVVFDVLKVT
60 70 80 90 100
PEEFASQITL MDIPVFKAIQ PEELASCGWS KKEKHSLAPN VVAFTRRFNQ
110 120 130 140 150
VSFWVVREIL TAQTLKIRAE ILSHFVKIAK KLLELNNLHS LMSVVSALQS
160 170 180 190 200
APIFRLTKTW ALLNRKDKTT FEKLDYLMSK EDNYKRTREY IRSLKMVPSI
210 220 230 240 250
PYLGIYLLDL IYIDSAYPAS GSIMENEQRS NQMNNILRII ADLQVSCSYD
260 270 280 290 300
HLTTLPHVQK YLKSVRYIEE LQKFVEDDNY KLSLRIEPGS SSPRLVSSKE
310 320 330 340 350
DLAGPSAGSG SARFSRRPTC PDTSVAGSLP TPPVPRHRKS HSLGNNMMCQ
360 370 380 390 400
LSVVESKSAT FPSEKARHLL DDSVLESRSP RRGLALTSSS AVTNGLSLGS
410 420 430 440 450
SESSEFSEEM SSGLESPTGP CICSLGNSAA VPTMEGPLRR KTLLKEGRKP
460 470 480 490 500
ALSSWTRYWV ILSGSTLLYY GAKSLRGTDR KHYKSTPGKK VSIVGWMVQL
510 520 530 540 550
PDDPEHPDIF QLNNPDKGNV YKFQTGSRFH AILWHKHLDD ACKSNRPQVP
ANLMSFE
The sequence of this isoform differs from the canonical sequence as follows:
347-415: MMCQLSVVES...FSEEMSSGLE → RGRLYATLGPNWRVPVRNSPRTRSCVY
483-490: Missing.
549-557: VPANLMSFE → EAGAAPGPTGTDSHEVDHLEGGAGKEAGPCA
Computationally mapped potential isoform sequencesi
There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketQ5JT61 | Q5JT61_HUMAN | Ras-specific guanine nucleotide-rel... | RALGPS1 | 173 | Annotation score: | ||
H0Y6A2 | H0Y6A2_HUMAN | Ras-specific guanine nucleotide-rel... | RALGPS1 | 153 | Annotation score: |
Sequence cautioni
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 86 | S → T in AAH32372 (PubMed:15489334).Curated | 1 | |
Sequence conflicti | 189 | E → G in BAG61198 (PubMed:14702039).Curated | 1 | |
Sequence conflicti | 251 | H → R in BAG61198 (PubMed:14702039).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_061785 | 290 | S → N. Corresponds to variant dbSNP:rs55918931Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_033471 | 73 – 108 | ELASC…WVVRE → KGWPARMEDSLQKSTVSSRP HDTLQFRKTLPVGPGT in isoform 6. 1 PublicationAdd BLAST | 36 | |
Alternative sequenceiVSP_033472 | 109 – 557 | Missing in isoform 6. 1 PublicationAdd BLAST | 449 | |
Alternative sequenceiVSP_033473 | 205 – 213 | IYLLDLIYI → RSLNWLIFF in isoform 5. Curated | 9 | |
Alternative sequenceiVSP_033474 | 214 – 557 | Missing in isoform 5. CuratedAdd BLAST | 344 | |
Alternative sequenceiVSP_033475 | 304 – 384 | GPSAG…PRRGL → VSHLSSLSHQGQAEEARLKP TSGQHPAWMWPSSSRVPAAP PASAAPRSPWPRNLRNDQGQ PGAVALTCNPSTLGSRSRRI T in isoform 3. 1 PublicationAdd BLAST | 81 | |
Alternative sequenceiVSP_033476 | 304 – 305 | GP → AM in isoform 4. 1 Publication | 2 | |
Alternative sequenceiVSP_033477 | 306 – 557 | Missing in isoform 4. 1 PublicationAdd BLAST | 252 | |
Alternative sequenceiVSP_033478 | 347 – 415 | MMCQL…SSGLE → RGRLYATLGPNWRVPVRNSP RTRSCVY in isoform 2 and isoform 7. 2 PublicationsAdd BLAST | 69 | |
Alternative sequenceiVSP_033479 | 385 – 557 | Missing in isoform 3. 1 PublicationAdd BLAST | 173 | |
Alternative sequenceiVSP_033480 | 483 – 490 | Missing in isoform 2. 1 Publication | 8 | |
Alternative sequenceiVSP_033481 | 549 – 557 | VPANLMSFE → EAGAAPGPTGTDSHEVDHLE GGAGKEAGPCA in isoform 2 and isoform 7. 2 Publications | 9 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF221098 mRNA Translation: AAF65253.1 AB002349 mRNA Translation: BAA20808.2 Different initiation. AK299149 mRNA Translation: BAG61198.1 AL160169 Genomic DNA No translation available. AL356862 Genomic DNA No translation available. AL357623 Genomic DNA No translation available. AL450263 Genomic DNA No translation available. CH471090 Genomic DNA Translation: EAW87645.1 CH471090 Genomic DNA Translation: EAW87646.1 CH471090 Genomic DNA Translation: EAW87648.1 BC019329 mRNA Translation: AAH19329.1 Different initiation. BC032372 mRNA Translation: AAH32372.1 BC033708 mRNA Translation: AAH33708.1 |
CCDSi | CCDS35143.1 [Q5JS13-1] CCDS55344.1 [Q5JS13-4] CCDS55345.1 [Q5JS13-7] CCDS55346.1 [Q5JS13-2] |
RefSeqi | NP_001177657.1, NM_001190728.1 [Q5JS13-2] NP_001177658.1, NM_001190729.1 [Q5JS13-7] NP_001177659.1, NM_001190730.1 [Q5JS13-4] NP_001309249.1, NM_001322320.1 [Q5JS13-7] NP_055451.1, NM_014636.2 [Q5JS13-1] XP_016870836.1, XM_017015347.1 XP_016870839.1, XM_017015350.1 [Q5JS13-3] |
Genome annotation databases
Ensembli | ENST00000259351; ENSP00000259351; ENSG00000136828 [Q5JS13-1] ENST00000373434; ENSP00000362533; ENSG00000136828 [Q5JS13-2] ENST00000373436; ENSP00000362535; ENSG00000136828 [Q5JS13-4] ENST00000394011; ENSP00000377579; ENSG00000136828 [Q5JS13-6] ENST00000394022; ENSP00000377590; ENSG00000136828 [Q5JS13-3] ENST00000424082; ENSP00000415630; ENSG00000136828 [Q5JS13-7] |
GeneIDi | 9649 |
KEGGi | hsa:9649 |
UCSCi | uc004bqo.3, human [Q5JS13-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF221098 mRNA Translation: AAF65253.1 AB002349 mRNA Translation: BAA20808.2 Different initiation. AK299149 mRNA Translation: BAG61198.1 AL160169 Genomic DNA No translation available. AL356862 Genomic DNA No translation available. AL357623 Genomic DNA No translation available. AL450263 Genomic DNA No translation available. CH471090 Genomic DNA Translation: EAW87645.1 CH471090 Genomic DNA Translation: EAW87646.1 CH471090 Genomic DNA Translation: EAW87648.1 BC019329 mRNA Translation: AAH19329.1 Different initiation. BC032372 mRNA Translation: AAH32372.1 BC033708 mRNA Translation: AAH33708.1 |
CCDSi | CCDS35143.1 [Q5JS13-1] CCDS55344.1 [Q5JS13-4] CCDS55345.1 [Q5JS13-7] CCDS55346.1 [Q5JS13-2] |
RefSeqi | NP_001177657.1, NM_001190728.1 [Q5JS13-2] NP_001177658.1, NM_001190729.1 [Q5JS13-7] NP_001177659.1, NM_001190730.1 [Q5JS13-4] NP_001309249.1, NM_001322320.1 [Q5JS13-7] NP_055451.1, NM_014636.2 [Q5JS13-1] XP_016870836.1, XM_017015347.1 XP_016870839.1, XM_017015350.1 [Q5JS13-3] |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
3QXL | X-ray | 2.24 | A/B | 23-289 | [»] | |
SMRi | Q5JS13 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 115007, 9 interactors |
IntActi | Q5JS13, 3 interactors |
MINTi | Q5JS13 |
STRINGi | 9606.ENSP00000259351 |
PTM databases
iPTMneti | Q5JS13 |
PhosphoSitePlusi | Q5JS13 |
Genetic variation databases
BioMutai | RALGPS1 |
DMDMi | 189040074 |
Proteomic databases
jPOSTi | Q5JS13 |
MassIVEi | Q5JS13 |
MaxQBi | Q5JS13 |
PaxDbi | Q5JS13 |
PeptideAtlasi | Q5JS13 |
PRIDEi | Q5JS13 |
ProteomicsDBi | 19273 63124 [Q5JS13-1] 63125 [Q5JS13-2] 63126 [Q5JS13-3] 63127 [Q5JS13-4] 63128 [Q5JS13-5] 63129 [Q5JS13-6] |
Protocols and materials databases
Antibodypediai | 30625, 68 antibodies |
Genome annotation databases
Ensembli | ENST00000259351; ENSP00000259351; ENSG00000136828 [Q5JS13-1] ENST00000373434; ENSP00000362533; ENSG00000136828 [Q5JS13-2] ENST00000373436; ENSP00000362535; ENSG00000136828 [Q5JS13-4] ENST00000394011; ENSP00000377579; ENSG00000136828 [Q5JS13-6] ENST00000394022; ENSP00000377590; ENSG00000136828 [Q5JS13-3] ENST00000424082; ENSP00000415630; ENSG00000136828 [Q5JS13-7] |
GeneIDi | 9649 |
KEGGi | hsa:9649 |
UCSCi | uc004bqo.3, human [Q5JS13-1] |
Organism-specific databases
CTDi | 9649 |
DisGeNETi | 9649 |
GeneCardsi | RALGPS1 |
HGNCi | HGNC:16851, RALGPS1 |
HPAi | ENSG00000136828, Low tissue specificity |
MIMi | 614444, gene |
neXtProti | NX_Q5JS13 |
OpenTargetsi | ENSG00000136828 |
PharmGKBi | PA134907502 |
VEuPathDBi | HostDB:ENSG00000136828.18 |
HUGEi | Search... |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG3417, Eukaryota |
GeneTreei | ENSGT00940000154079 |
HOGENOMi | CLU_021333_0_1_1 |
InParanoidi | Q5JS13 |
OMAi | CKSNKPQ |
OrthoDBi | 343666at2759 |
PhylomeDBi | Q5JS13 |
TreeFami | TF352150 |
Enzyme and pathway databases
PathwayCommonsi | Q5JS13 |
SIGNORi | Q5JS13 |
Miscellaneous databases
BioGRID-ORCSi | 9649, 7 hits in 987 CRISPR screens |
ChiTaRSi | RALGPS1, human |
GenomeRNAii | 9649 |
Pharosi | Q5JS13, Tbio |
PROi | PR:Q5JS13 |
RNActi | Q5JS13, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000136828, Expressed in cortical plate and 214 other tissues |
ExpressionAtlasi | Q5JS13, baseline and differential |
Genevisiblei | Q5JS13, HS |
Family and domain databases
CDDi | cd00155, RasGEF, 1 hit |
Gene3Di | 1.10.840.10, 1 hit 2.30.29.30, 1 hit |
InterProi | View protein in InterPro IPR011993, PH-like_dom_sf IPR001849, PH_domain IPR008937, Ras-like_GEF IPR023578, Ras_GEF_dom_sf IPR001895, RASGEF_cat_dom IPR036964, RASGEF_cat_dom_sf |
PANTHERi | PTHR23113, PTHR23113, 1 hit |
Pfami | View protein in Pfam PF00169, PH, 1 hit PF00617, RasGEF, 1 hit |
SMARTi | View protein in SMART SM00233, PH, 1 hit SM00147, RasGEF, 1 hit |
SUPFAMi | SSF48366, SSF48366, 1 hit |
PROSITEi | View protein in PROSITE PS50003, PH_DOMAIN, 1 hit PS50009, RASGEF_CAT, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | RGPS1_HUMAN | |
Accessioni | Q5JS13Primary (citable) accession number: Q5JS13 Secondary accession number(s): B4DR86 Q9NZ16 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | May 20, 2008 |
Last sequence update: | February 5, 2008 | |
Last modified: | April 7, 2021 | |
This is version 121 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
3D-structure, Reference proteomeDocuments
- Human chromosome 9
Human chromosome 9: 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 - PDB cross-references
Index of Protein Data Bank (PDB) cross-references