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UniProtKB - Q5JS13 (RGPS1_HUMAN)

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Protein

Ras-specific guanine nucleotide-releasing factor RalGPS1

Gene

RALGPS1

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

Functioni

Guanine nucleotide exchange factor (GEF) for the small GTPase RALA. May be involved in cytoskeletal organization (By similarity). Guanine nucleotide exchange factor for.By similarity2 Publications

GO - Molecular functioni

  • guanyl-nucleotide exchange factor activity Source: UniProtKB
  • Ral guanyl-nucleotide exchange factor activity Source: FlyBase
View the complete GO annotation on QuickGO ...

GO - Biological processi

  • intracellular signal transduction Source: UniProtKB
  • regulation of Ral protein signal transduction Source: FlyBase
  • small GTPase mediated signal transduction Source: InterPro
View the complete GO annotation on QuickGO ...

Keywordsi

Molecular functionGuanine-nucleotide releasing factor

Names & Taxonomyi

Protein namesi
Recommended name:
Ras-specific guanine nucleotide-releasing factor RalGPS1
Alternative 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
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 9

Organism-specific databases

EuPathDBiHostDB:ENSG00000136828.18
HGNCiHGNC:16851 RALGPS1
MIMi614444 gene
neXtProtiNX_Q5JS13

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

Cell membrane, Cytoplasm, Membrane

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi148L → A: Loss of activity. 1 Publication1

Organism-specific databases

DisGeNETi9649
OpenTargetsiENSG00000136828
PharmGKBiPA134907502

Polymorphism and mutation databases

BioMutaiRALGPS1
DMDMi189040074

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003331921 – 557Ras-specific guanine nucleotide-releasing factor RalGPS1Add BLAST557

Proteomic databases

EPDiQ5JS13
MaxQBiQ5JS13
PaxDbiQ5JS13
PeptideAtlasiQ5JS13
PRIDEiQ5JS13
ProteomicsDBi63124
63125 [Q5JS13-2]
63126 [Q5JS13-3]
63127 [Q5JS13-4]
63128 [Q5JS13-5]
63129 [Q5JS13-6]

PTM databases

iPTMnetiQ5JS13
PhosphoSitePlusiQ5JS13

Expressioni

Tissue specificityi

Widely expressed (at protein level). Isoform 2 is expressed in brain, colon, kidney, pancreas, prostate, skeletal muscle, small intestine, testis, thymus and uterus. Isoform 1 is expressed at high levels in heart and testis and at lower levels in brain, pancreas, skeletal muscle, small intestine and thymus.2 Publications

Gene expression databases

BgeeiENSG00000136828
CleanExiHS_RALGPS1
ExpressionAtlasiQ5JS13 baseline and differential
GenevisibleiQ5JS13 HS

Interactioni

Subunit structurei

Interacts with the SH3 domains of GRB2, NCK1, PLCG1 and SRC.1 Publication

GO - Molecular functioni

  • guanyl-nucleotide exchange factor activity Source: UniProtKB
  • Ral guanyl-nucleotide exchange factor activity Source: FlyBase
View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGridi115007, 6 interactors
IntActiQ5JS13, 3 interactors
MINTiQ5JS13

Structurei

Secondary structure

1557
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi46 – 48Combined sources3
Helixi51 – 67Combined sources17
Helixi71 – 76Combined sources6
Helixi84 – 87Combined sources4
Helixi89 – 110Combined sources22
Helixi115 – 134Combined sources20
Helixi138 – 148Combined sources11
Helixi151 – 154Combined sources4
Helixi157 – 161Combined sources5
Helixi165 – 177Combined sources13
Helixi181 – 192Combined sources12
Turni193 – 196Combined sources4
Helixi203 – 216Combined sources14
Beta strandi219 – 221Combined sources3
Helixi223 – 245Combined sources23
Helixi256 – 263Combined sources8
Helixi269 – 271Combined sources3
Helixi272 – 286Combined sources15

3D structure databases

ProteinModelPortaliQ5JS13
SMRiQ5JS13
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini50 – 289Ras-GEFPROSITE-ProRule annotationAdd BLAST240
Domaini431 – 543PHPROSITE-ProRule annotationAdd BLAST113

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni433 – 557Required for stimulation of nucleotide exchange by RALAAdd BLAST125

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi330 – 333PXXP4

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi21 – 26Poly-Ser6

Domaini

The PH domain mediates binding to membranes. It is required for efficient GEF activity.

Phylogenomic databases

eggNOGiENOG410KD3E Eukaryota
ENOG410YV9P LUCA
GeneTreeiENSGT00910000143985
HOGENOMiHOG000008021
HOVERGENiHBG059258
InParanoidiQ5JS13
OMAiFSAIIWH
OrthoDBiEOG091G0NUM
PhylomeDBiQ5JS13
TreeFamiTF352150

Family and domain databases

CDDicd00155 RasGEF, 1 hit
Gene3Di1.10.840.10, 1 hit
2.30.29.30, 1 hit
InterProiView protein in InterPro
IPR011993 PH-like_dom_sf
IPR001849 PH_domain
IPR023578 Ras_GEF_dom_sf
IPR001895 RASGEF_cat_dom
IPR036964 RASGEF_cat_dom_sf
PfamiView protein in Pfam
PF00169 PH, 1 hit
PF00617 RasGEF, 1 hit
SMARTiView protein in SMART
SM00233 PH, 1 hit
SM00147 RasGEF, 1 hit
SUPFAMiSSF48366 SSF48366, 1 hit
PROSITEiView protein in PROSITE
PS50003 PH_DOMAIN, 1 hit
PS50009 RASGEF_CAT, 1 hit

Sequences (7)i

Sequence statusi: Complete.

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

Isoform 1 (identifier: Q5JS13-1) [UniParc]FASTAAdd to basket
Also known as: RALGPS1B

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
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
Length:557
Mass (Da):62,133
Last modified:February 5, 2008 - v1
Checksum:i0C93A55468ED95ED
GO
Isoform 2 (identifier: Q5JS13-2) [UniParc]FASTAAdd to basket
Also known as: RALGPS1A

The sequence of this isoform differs from the canonical sequence as follows:
     347-415: MMCQLSVVES...FSEEMSSGLE → RGRLYATLGPNWRVPVRNSPRTRSCVY
     483-490: Missing.
     549-557: VPANLMSFE → EAGAAPGPTGTDSHEVDHLEGGAGKEAGPCA

Note: No experimental confirmation available.
Show »
Length:529
Mass (Da):58,975
Checksum:i49CFB803DABF6BAA
GO
Isoform 3 (identifier: Q5JS13-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     304-384: GPSAGSGSAR...LESRSPRRGL → VSHLSSLSHQ...TLGSRSRRIT
     385-557: Missing.

Note: No experimental confirmation available.
Show »
Length:384
Mass (Da):43,154
Checksum:i2B0F6988D850036E
GO
Isoform 4 (identifier: Q5JS13-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     304-305: GP → AM
     306-557: Missing.

Note: No experimental confirmation available.
Show »
Length:305
Mass (Da):34,728
Checksum:iA23253E8A5E97706
GO
Isoform 5 (identifier: Q5JS13-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     205-213: IYLLDLIYI → RSLNWLIFF
     214-557: Missing.

Note: Gene prediction based on EST data. No experimental confirmation available.
Show »
Length:213
Mass (Da):24,325
Checksum:i6BE4541C45159E89
GO
Isoform 6 (identifier: Q5JS13-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     73-108: ELASCGWSKKEKHSLAPNVVAFTRRFNQVSFWVVRE → KGWPARMEDSLQKSTVSSRPHDTLQFRKTLPVGPGT
     109-557: Missing.

Note: No experimental confirmation available.
Show »
Length:108
Mass (Da):11,772
Checksum:i96CA60064D585BB5
GO
Isoform 7 (identifier: Q5JS13-7) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     347-415: MMCQLSVVES...FSEEMSSGLE → RGRLYATLGPNWRVPVRNSPRTRSCVY
     549-557: VPANLMSFE → EAGAAPGPTGTDSHEVDHLEGGAGKEAGPCA

Note: No experimental confirmation available.
Show »
Length:537
Mass (Da):59,865
Checksum:i3CCD9778267F43FA
GO

Sequence cautioni

The sequence AAH19329 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
The sequence BAA20808 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti86S → T in AAH32372 (PubMed:15489334).Curated1
Sequence conflicti189E → G in BAG61198 (PubMed:14702039).Curated1
Sequence conflicti251H → R in BAG61198 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_061785290S → N. Corresponds to variant dbSNP:rs55918931Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_03347173 – 108ELASC…WVVRE → KGWPARMEDSLQKSTVSSRP HDTLQFRKTLPVGPGT in isoform 6. 1 PublicationAdd BLAST36
Alternative sequenceiVSP_033472109 – 557Missing in isoform 6. 1 PublicationAdd BLAST449
Alternative sequenceiVSP_033473205 – 213IYLLDLIYI → RSLNWLIFF in isoform 5. Curated9
Alternative sequenceiVSP_033474214 – 557Missing in isoform 5. CuratedAdd BLAST344
Alternative sequenceiVSP_033475304 – 384GPSAG…PRRGL → VSHLSSLSHQGQAEEARLKP TSGQHPAWMWPSSSRVPAAP PASAAPRSPWPRNLRNDQGQ PGAVALTCNPSTLGSRSRRI T in isoform 3. 1 PublicationAdd BLAST81
Alternative sequenceiVSP_033476304 – 305GP → AM in isoform 4. 1 Publication2
Alternative sequenceiVSP_033477306 – 557Missing in isoform 4. 1 PublicationAdd BLAST252
Alternative sequenceiVSP_033478347 – 415MMCQL…SSGLE → RGRLYATLGPNWRVPVRNSP RTRSCVY in isoform 2 and isoform 7. 2 PublicationsAdd BLAST69
Alternative sequenceiVSP_033479385 – 557Missing in isoform 3. 1 PublicationAdd BLAST173
Alternative sequenceiVSP_033480483 – 490Missing in isoform 2. 1 Publication8
Alternative sequenceiVSP_033481549 – 557VPANLMSFE → EAGAAPGPTGTDSHEVDHLE GGAGKEAGPCA in isoform 2 and isoform 7. 2 Publications9

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
CCDSiCCDS35143.1 [Q5JS13-1]
CCDS55344.1 [Q5JS13-4]
CCDS55345.1 [Q5JS13-7]
CCDS55346.1 [Q5JS13-2]
RefSeqiNP_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 [Q5JS13-1]
XP_016870839.1, XM_017015350.1 [Q5JS13-3]
UniGeneiHs.432842
Hs.606576
Hs.721343

Genome annotation databases

EnsembliENST00000259351; 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]
GeneIDi9649
KEGGihsa:9649
UCSCiuc004bqo.3 human [Q5JS13-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiRGPS1_HUMAN
AccessioniPrimary (citable) accession number: Q5JS13
Secondary accession number(s): B4DR86
, E9PBQ5, O15059, Q5JT60, Q5JT65, Q5JUG5, Q8N4S6, Q8N5H4, Q8WUV7, Q9NZ16
Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 20, 2008
Last sequence update: February 5, 2008
Last modified: July 18, 2018
This is version 101 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

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 9
    Human chromosome 9: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references

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