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Protein

Ras-GEF domain-containing family member 1A

Gene

RASGEF1A

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 3 out of 5-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

  • cell migration Source: UniProtKB
  • MAPK cascade Source: Reactome
  • positive regulation of Ras protein signal transduction Source: FlyBase
  • small GTPase mediated signal transduction Source: InterPro
Complete GO annotation...

Keywords - Molecular functioni

Guanine-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

HGNCiHGNC:24246. RASGEF1A.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA134884893.

Polymorphism and mutation databases

BioMutaiRASGEF1A.
DMDMi156633608.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 481481Ras-GEF domain-containing family member 1APRO_0000297635Add
BLAST

Proteomic databases

PaxDbiQ8N9B8.
PeptideAtlasiQ8N9B8.
PRIDEiQ8N9B8.

PTM databases

iPTMnetiQ8N9B8.
PhosphoSiteiQ8N9B8.

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.
CleanExiHS_RASGEF1A.
ExpressionAtlasiQ8N9B8. baseline and differential.
GenevisibleiQ8N9B8. HS.

Organism-specific databases

HPAiHPA035593.

Interactioni

Protein-protein interaction databases

BioGridi128673. 1 interaction.
STRINGi9606.ENSP00000379154.

Structurei

3D structure databases

ProteinModelPortaliQ8N9B8.
SMRiQ8N9B8. Positions 47-459.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini41 – 170130N-terminal Ras-GEFPROSITE-ProRule annotationAdd
BLAST
Domaini214 – 461248Ras-GEFPROSITE-ProRule annotationAdd
BLAST

Sequence similaritiesi

Contains 1 N-terminal Ras-GEF domain.PROSITE-ProRule annotation
Contains 1 Ras-GEF domain.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiKOG3541. Eukaryota.
ENOG410XRE3. LUCA.
GeneTreeiENSGT00810000125357.
HOGENOMiHOG000018026.
HOVERGENiHBG055252.
InParanoidiQ8N9B8.
OMAiRVFMPPH.
OrthoDBiEOG091G0B0J.
PhylomeDBiQ8N9B8.
TreeFamiTF313379.

Family and domain databases

CDDicd06224. REM. 1 hit.
Gene3Di1.10.840.10. 1 hit.
InterProiIPR000651. Ras-like_Gua-exchang_fac_N.
IPR023578. Ras_GEF_dom.
IPR001895. RASGEF_cat_dom.
[Graphical view]
PfamiPF00617. RasGEF. 1 hit.
PF00618. RasGEF_N. 1 hit.
[Graphical view]
SMARTiSM00147. RasGEF. 1 hit.
SM00229. RasGEFN. 1 hit.
[Graphical view]
SUPFAMiSSF48366. SSF48366. 1 hit.
PROSITEiPS50009. RASGEF_CAT. 1 hit.
PS50212. RASGEF_NTER. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

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

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

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti465 – 4651M → V in AAH22548 (PubMed:15489334).Curated

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 11M → MFLEPQETM in isoform 2. 1 PublicationVSP_027312

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

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. Positions 47-459.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi128673. 1 interaction.
STRINGi9606.ENSP00000379154.

PTM databases

iPTMnetiQ8N9B8.
PhosphoSiteiQ8N9B8.

Polymorphism and mutation databases

BioMutaiRASGEF1A.
DMDMi156633608.

Proteomic databases

PaxDbiQ8N9B8.
PeptideAtlasiQ8N9B8.
PRIDEiQ8N9B8.

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.
GeneCardsiRASGEF1A.
H-InvDBHIX0008777.
HGNCiHGNC:24246. RASGEF1A.
HPAiHPA035593.
MIMi614531. gene.
neXtProtiNX_Q8N9B8.
PharmGKBiPA134884893.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3541. Eukaryota.
ENOG410XRE3. LUCA.
GeneTreeiENSGT00810000125357.
HOGENOMiHOG000018026.
HOVERGENiHBG055252.
InParanoidiQ8N9B8.
OMAiRVFMPPH.
OrthoDBiEOG091G0B0J.
PhylomeDBiQ8N9B8.
TreeFamiTF313379.

Enzyme and pathway databases

ReactomeiR-HSA-5673001. RAF/MAP kinase cascade.
SIGNORiQ8N9B8.

Miscellaneous databases

GenomeRNAii221002.
PROiQ8N9B8.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000198915.
CleanExiHS_RASGEF1A.
ExpressionAtlasiQ8N9B8. baseline and differential.
GenevisibleiQ8N9B8. HS.

Family and domain databases

CDDicd06224. REM. 1 hit.
Gene3Di1.10.840.10. 1 hit.
InterProiIPR000651. Ras-like_Gua-exchang_fac_N.
IPR023578. Ras_GEF_dom.
IPR001895. RASGEF_cat_dom.
[Graphical view]
PfamiPF00617. RasGEF. 1 hit.
PF00618. RasGEF_N. 1 hit.
[Graphical view]
SMARTiSM00147. RasGEF. 1 hit.
SM00229. RasGEFN. 1 hit.
[Graphical view]
SUPFAMiSSF48366. SSF48366. 1 hit.
PROSITEiPS50009. RASGEF_CAT. 1 hit.
PS50212. RASGEF_NTER. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiRGF1A_HUMAN
AccessioniPrimary (citable) accession number: Q8N9B8
Secondary accession number(s): Q8TBF1
Entry historyi
Integrated into UniProtKB/Swiss-Prot: August 21, 2007
Last sequence update: August 21, 2007
Last modified: September 7, 2016
This is version 103 of the entry and version 2 of the sequence. [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. Human chromosome 10
    Human chromosome 10: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.