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Protein

Ras-GEF domain-containing family member 1A

Gene

RASGEF1A

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

Functioni

Guanine nucleotide exchange factor (GEF) with specificity for RAP2A, KRAS, HRAS, and NRAS (in vitro). Plays a role in cell migration.2 Publications

GO - Molecular functioni

  • Ras guanyl-nucleotide exchange factor activity Source: UniProtKB

GO - Biological processi

Keywordsi

Molecular functionGuanine-nucleotide releasing factor

Enzyme and pathway databases

ReactomeiR-HSA-5673001 RAF/MAP kinase cascade
SIGNORiQ8N9B8

Names & Taxonomyi

Protein namesi
Recommended name:
Ras-GEF domain-containing family member 1A
Gene namesi
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 10

Organism-specific databases

EuPathDBiHostDB:ENSG00000198915.11
HGNCiHGNC:24246 RASGEF1A
MIMi614531 gene
neXtProtiNX_Q8N9B8

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

Pathology & Biotechi

Organism-specific databases

DisGeNETi221002
OpenTargetsiENSG00000198915
PharmGKBiPA134884893

Polymorphism and mutation databases

BioMutaiRASGEF1A
DMDMi156633608

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002976351 – 481Ras-GEF domain-containing family member 1AAdd BLAST481

Proteomic databases

PaxDbiQ8N9B8
PeptideAtlasiQ8N9B8
PRIDEiQ8N9B8
ProteomicsDBi72520
72521 [Q8N9B8-2]

PTM databases

iPTMnetiQ8N9B8
PhosphoSitePlusiQ8N9B8

Expressioni

Tissue specificityi

Detected in brain and spinal cord. Highly expressed in a number of intrahepatic cholangiocarcinoma tissue biopsies.1 Publication

Gene expression databases

BgeeiENSG00000198915 Expressed in 157 organ(s), highest expression level in endothelial cell
CleanExiHS_RASGEF1A
ExpressionAtlasiQ8N9B8 baseline and differential
GenevisibleiQ8N9B8 HS

Organism-specific databases

HPAiHPA035593

Interactioni

GO - Molecular functioni

Protein-protein interaction databases

BioGridi128673, 1 interactor
STRINGi9606.ENSP00000379154

Structurei

3D structure databases

ProteinModelPortaliQ8N9B8
SMRiQ8N9B8
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini41 – 170N-terminal Ras-GEFPROSITE-ProRule annotationAdd BLAST130
Domaini214 – 461Ras-GEFPROSITE-ProRule annotationAdd BLAST248

Phylogenomic databases

eggNOGiKOG3541 Eukaryota
ENOG410XRE3 LUCA
GeneTreeiENSGT00880000137870
HOGENOMiHOG000018026
HOVERGENiHBG055252
InParanoidiQ8N9B8
OMAiRSPAMDK
OrthoDBiEOG091G0B0J
PhylomeDBiQ8N9B8
TreeFamiTF313379

Family and domain databases

CDDicd00155 RasGEF, 1 hit
cd06224 REM, 1 hit
Gene3Di1.10.840.10, 1 hit
InterProiView protein in InterPro
IPR008937 Ras-like_GEF
IPR000651 Ras-like_Gua-exchang_fac_N
IPR023578 Ras_GEF_dom_sf
IPR001895 RASGEF_cat_dom
IPR036964 RASGEF_cat_dom_sf
PANTHERiPTHR23113 PTHR23113, 1 hit
PfamiView protein in Pfam
PF00617 RasGEF, 1 hit
PF00618 RasGEF_N, 1 hit
SMARTiView protein in SMART
SM00147 RasGEF, 1 hit
SM00229 RasGEFN, 1 hit
SUPFAMiSSF48366 SSF48366, 1 hit
PROSITEiView protein in PROSITE
PS50009 RASGEF_CAT, 1 hit
PS50212 RASGEF_NTER, 1 hit

Sequences (2+)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All

Isoform 1 (identifier: Q8N9B8-1) [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
MPQTSVVFSS ILGPSCSGQV QPGMGERGGG AGGGSGDLIF QDGHLISGSL
60 70 80 90 100
EALMEHLVPT VDYYPDRTYI FTFLLSSRVF MPPHDLLARV GQICVEQKQQ
110 120 130 140 150
LEAGPEKAKL KSFSAKIVQL LKEWTEAFPY DFQDEKAMAE LKAITHRVTQ
160 170 180 190 200
CDEENGTVKK AIAQMTQSLL LSLAARSQLQ ELREKLRPPA VDKGPILKTK
210 220 230 240 250
PPAAQKDILG VCCDPLVLAQ QLTHIELDRV SSIYPEDLMQ IVSHMDSLDN
260 270 280 290 300
HRCRGDLTKT YSLEAYDNWF NCLSMLVATE VCRVVKKKHR TRMLEFFIDV
310 320 330 340 350
ARECFNIGNF NSMMAIISGM NLSPVARLKK TWSKVKTAKF DVLEHHMDPS
360 370 380 390 400
SNFCNYRTAL QGATQRSQMA NSSREKIVIP VFNLFVKDIY FLHKIHTNHL
410 420 430 440 450
PNGHINFKKF WEISRQIHEF MTWTQVECPF EKDKKIQSYL LTAPIYSEEA
460 470 480
LFVASFESEG PENHMEKDSW KTLRTTLLNR A
Length:481
Mass (Da):54,556
Last modified:August 21, 2007 - v2
Checksum:iCF827AAC588525C0
GO
Isoform 2 (identifier: Q8N9B8-2) [UniParc]FASTAAdd to basket

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

Show »
Length:489
Mass (Da):55,532
Checksum:i85D5986ACD2C7C76
GO

Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H7BYA3H7BYA3_HUMAN
Ras-GEF domain-containing family me...
RASGEF1A
211Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti465M → V in AAH22548 (PubMed:15489334).Curated1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0273121M → MFLEPQETM in isoform 2. 1 Publication1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK095136 mRNA Translation: BAC04491.1
BC022548 mRNA Translation: AAH22548.2
CCDSiCCDS60517.1 [Q8N9B8-2]
CCDS7202.2 [Q8N9B8-1]
RefSeqiNP_001269791.1, NM_001282862.1 [Q8N9B8-2]
NP_660356.2, NM_145313.3 [Q8N9B8-1]
UniGeneiHs.125293

Genome annotation databases

EnsembliENST00000374459; ENSP00000363583; ENSG00000198915 [Q8N9B8-2]
ENST00000395809; ENSP00000379154; ENSG00000198915 [Q8N9B8-1]
ENST00000395810; ENSP00000379155; ENSG00000198915 [Q8N9B8-1]
GeneIDi221002
KEGGihsa:221002
UCSCiuc001jao.3 human [Q8N9B8-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK095136 mRNA Translation: BAC04491.1
BC022548 mRNA Translation: AAH22548.2
CCDSiCCDS60517.1 [Q8N9B8-2]
CCDS7202.2 [Q8N9B8-1]
RefSeqiNP_001269791.1, NM_001282862.1 [Q8N9B8-2]
NP_660356.2, NM_145313.3 [Q8N9B8-1]
UniGeneiHs.125293

3D structure databases

ProteinModelPortaliQ8N9B8
SMRiQ8N9B8
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi128673, 1 interactor
STRINGi9606.ENSP00000379154

PTM databases

iPTMnetiQ8N9B8
PhosphoSitePlusiQ8N9B8

Polymorphism and mutation databases

BioMutaiRASGEF1A
DMDMi156633608

Proteomic databases

PaxDbiQ8N9B8
PeptideAtlasiQ8N9B8
PRIDEiQ8N9B8
ProteomicsDBi72520
72521 [Q8N9B8-2]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000374459; ENSP00000363583; ENSG00000198915 [Q8N9B8-2]
ENST00000395809; ENSP00000379154; ENSG00000198915 [Q8N9B8-1]
ENST00000395810; ENSP00000379155; ENSG00000198915 [Q8N9B8-1]
GeneIDi221002
KEGGihsa:221002
UCSCiuc001jao.3 human [Q8N9B8-1]

Organism-specific databases

CTDi221002
DisGeNETi221002
EuPathDBiHostDB:ENSG00000198915.11
GeneCardsiRASGEF1A
H-InvDBiHIX0008777
HGNCiHGNC:24246 RASGEF1A
HPAiHPA035593
MIMi614531 gene
neXtProtiNX_Q8N9B8
OpenTargetsiENSG00000198915
PharmGKBiPA134884893
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3541 Eukaryota
ENOG410XRE3 LUCA
GeneTreeiENSGT00880000137870
HOGENOMiHOG000018026
HOVERGENiHBG055252
InParanoidiQ8N9B8
OMAiRSPAMDK
OrthoDBiEOG091G0B0J
PhylomeDBiQ8N9B8
TreeFamiTF313379

Enzyme and pathway databases

ReactomeiR-HSA-5673001 RAF/MAP kinase cascade
SIGNORiQ8N9B8

Miscellaneous databases

GenomeRNAii221002
PROiPR:Q8N9B8
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000198915 Expressed in 157 organ(s), highest expression level in endothelial cell
CleanExiHS_RASGEF1A
ExpressionAtlasiQ8N9B8 baseline and differential
GenevisibleiQ8N9B8 HS

Family and domain databases

CDDicd00155 RasGEF, 1 hit
cd06224 REM, 1 hit
Gene3Di1.10.840.10, 1 hit
InterProiView protein in InterPro
IPR008937 Ras-like_GEF
IPR000651 Ras-like_Gua-exchang_fac_N
IPR023578 Ras_GEF_dom_sf
IPR001895 RASGEF_cat_dom
IPR036964 RASGEF_cat_dom_sf
PANTHERiPTHR23113 PTHR23113, 1 hit
PfamiView protein in Pfam
PF00617 RasGEF, 1 hit
PF00618 RasGEF_N, 1 hit
SMARTiView protein in SMART
SM00147 RasGEF, 1 hit
SM00229 RasGEFN, 1 hit
SUPFAMiSSF48366 SSF48366, 1 hit
PROSITEiView protein in PROSITE
PS50009 RASGEF_CAT, 1 hit
PS50212 RASGEF_NTER, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiRGF1A_HUMAN
AccessioniPrimary (citable) accession number: Q8N9B8
Secondary accession number(s): Q8TBF1
Entry historyiIntegrated into UniProtKB/Swiss-Prot: August 21, 2007
Last sequence update: August 21, 2007
Last modified: November 7, 2018
This is version 115 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

Complete proteome, Reference proteome

Documents

  1. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  2. Human chromosome 10
    Human chromosome 10: entries, gene names and cross-references to MIM
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Main funding by: National Institutes of Health

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