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Protein

Rap guanine nucleotide exchange factor-like 1

Gene

RAPGEFL1

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

Functioni

Probable guanine nucleotide exchange factor (GEF).

GO - Molecular functioni

  • guanyl-nucleotide exchange factor activity Source: ProtInc

GO - Biological processi

Keywordsi

Molecular functionGuanine-nucleotide releasing factor

Names & Taxonomyi

Protein namesi
Recommended name:
Rap guanine nucleotide exchange factor-like 1
Alternative name(s):
Link guanine nucleotide exchange factor II
Short name:
Link GEFII
Gene namesi
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 17

Organism-specific databases

EuPathDBiHostDB:ENSG00000108352.11
HGNCiHGNC:17428 RAPGEFL1
neXtProtiNX_Q9UHV5

Subcellular locationi

Pathology & Biotechi

Organism-specific databases

OpenTargetsiENSG00000108352
PharmGKBiPA134884826

Polymorphism and mutation databases

BioMutaiRAPGEFL1
DMDMi205829945

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003492021 – 662Rap guanine nucleotide exchange factor-like 1Add BLAST662

Proteomic databases

EPDiQ9UHV5
PaxDbiQ9UHV5
PeptideAtlasiQ9UHV5
PRIDEiQ9UHV5
ProteomicsDBi84414
84415 [Q9UHV5-2]
84416 [Q9UHV5-3]

PTM databases

iPTMnetiQ9UHV5
PhosphoSitePlusiQ9UHV5

Expressioni

Gene expression databases

BgeeiENSG00000108352 Expressed in 164 organ(s), highest expression level in skin of abdomen
CleanExiHS_RAPGEFL1
ExpressionAtlasiQ9UHV5 baseline and differential
GenevisibleiQ9UHV5 HS

Organism-specific databases

HPAiHPA022895

Interactioni

GO - Molecular functioni

Protein-protein interaction databases

BioGridi119369, 3 interactors
IntActiQ9UHV5, 1 interactor
STRINGi9606.ENSP00000264644

Structurei

Secondary structure

1662
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliQ9UHV5
SMRiQ9UHV5
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ9UHV5

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini424 – 660Ras-GEFPROSITE-ProRule annotationAdd BLAST237

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi17 – 118Gly-richAdd BLAST102

Phylogenomic databases

eggNOGiKOG2378 Eukaryota
ENOG410XPX9 LUCA
GeneTreeiENSGT00880000137870
HOGENOMiHOG000230545
HOVERGENiHBG056985
InParanoidiQ9UHV5
PhylomeDBiQ9UHV5
TreeFamiTF313184

Family and domain databases

CDDicd00155 RasGEF, 1 hit
Gene3Di1.10.840.10, 1 hit
InterProiView protein in InterPro
IPR008937 Ras-like_GEF
IPR023578 Ras_GEF_dom_sf
IPR001895 RASGEF_cat_dom
IPR036964 RASGEF_cat_dom_sf
IPR029071 Ubiquitin-like_domsf
PANTHERiPTHR23113 PTHR23113, 1 hit
PfamiView protein in Pfam
PF00617 RasGEF, 1 hit
SMARTiView protein in SMART
SM00147 RasGEF, 1 hit
SUPFAMiSSF48366 SSF48366, 1 hit
SSF54236 SSF54236, 1 hit
PROSITEiView protein in PROSITE
PS50009 RASGEF_CAT, 1 hit

Sequences (3+)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 6 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9UHV5-1) [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
MKPLEKFLKK QTSQLAGRTV AGGPGGGLGS CGGPGGGGGP GGGGGPAGGQ
60 70 80 90 100
RSLQRRQSVS RLLLPAFLRE PPAEPGLEPP VPEEGGEPAG VAEEPGSGGP
110 120 130 140 150
CWLQLEEVPG PGPLGGGGPL RSPSSYSSDE LSPGEPLTSP PWAPLGAPER
160 170 180 190 200
PEHLLNRVLE RLAGGATRDS AASDILLDDI VLTHSLFLPT EKFLQELHQY
210 220 230 240 250
FVRAGGMEGP EGLGRKQACL AMLLHFLDTY QGLLQEEEGA GHIIKDLYLL
260 270 280 290 300
IMKDESLYQG LREDTLRLHQ LVETVELKIP EENQPPSKQV KPLFRHFRRI
310 320 330 340 350
DSCLQTRVAF RGSDEIFCRV YMPDHSYVTI RSRLSASVQD ILGSVTEKLQ
360 370 380 390 400
YSEEPAGRED SLILVAVSSS GEKVLLQPTE DCVFTALGIN SHLFACTRDS
410 420 430 440 450
YEALVPLPEE IQVSPGDTEI HRVEPEDVAN HLTAFHWELF RCVHELEFVD
460 470 480 490 500
YVFHGERGRR ETANLELLLQ RCSEVTHWVA TEVLLCEAPG KRAQLLKKFI
510 520 530 540 550
KIAALCKQNQ DLLSFYAVVM GLDNAAVSRL RLTWEKLPGK FKNLFRKFEN
560 570 580 590 600
LTDPCRNHKS YREVISKMKP PVIPFVPLIL KDLTFLHEGS KTLVDGLVNI
610 620 630 640 650
EKLHSVAEKV RTIRKYRSRP LCLDMEASPN HLQTKAYVRQ FQVIDNQNLL
660
FELSYKLEAN SQ
Length:662
Mass (Da):73,265
Last modified:September 2, 2008 - v2
Checksum:iC6724336938D5769
GO
Isoform 2 (identifier: Q9UHV5-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-206: Missing.

Show »
Length:456
Mass (Da):52,343
Checksum:i1BDD93BA234D98CA
GO
Isoform 3 (identifier: Q9UHV5-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-151: Missing.
     152-174: EHLLNRVLERLAGGATRDSAASD → MLIHPRGLPSSSHRRKINSTYFY

Show »
Length:511
Mass (Da):58,783
Checksum:i26B7A9366FB9F5A8
GO

Computationally mapped potential isoform sequencesi

There are 6 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
F5H2D5F5H2D5_HUMAN
Rap guanine nucleotide exchange fac...
RAPGEFL1
505Annotation score:
A0A087WVW6A0A087WVW6_HUMAN
Rap guanine nucleotide exchange fac...
RAPGEFL1
662Annotation score:
F5GYJ3F5GYJ3_HUMAN
Rap guanine nucleotide exchange fac...
RAPGEFL1
149Annotation score:
F5GXC6F5GXC6_HUMAN
Rap guanine nucleotide exchange fac...
RAPGEFL1
101Annotation score:
F5H582F5H582_HUMAN
Rap guanine nucleotide exchange fac...
RAPGEFL1
62Annotation score:
F5GY17F5GY17_HUMAN
Rap guanine nucleotide exchange fac...
RAPGEFL1
20Annotation score:

Sequence cautioni

The sequence BAG36274 differs from that shown. Reason: Erroneous initiation.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti81 – 82VP → PE in BC029956 (PubMed:15489334).Curated2

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0352171 – 206Missing in isoform 2. 2 PublicationsAdd BLAST206
Alternative sequenceiVSP_0353851 – 151Missing in isoform 3. 1 PublicationAdd BLAST151
Alternative sequenceiVSP_035386152 – 174EHLLN…SAASD → MLIHPRGLPSSSHRRKINST YFY in isoform 3. 1 PublicationAdd BLAST23

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF117946 mRNA Translation: AAF22003.1
AK313492 mRNA Translation: BAG36274.1 Different initiation.
AC068669 Genomic DNA No translation available.
BC029956 mRNA No translation available.
BC115374 mRNA Translation: AAI15375.1
BC115375 mRNA Translation: AAI15376.1
CCDSiCCDS11363.2 [Q9UHV5-1]
CCDS77022.1 [Q9UHV5-3]
RefSeqiNP_001290462.1, NM_001303533.1 [Q9UHV5-3]
NP_057423.1, NM_016339.4
XP_006722000.1, XM_006721937.3 [Q9UHV5-2]
UniGeneiHs.632254

Genome annotation databases

EnsembliENST00000264644; ENSP00000264644; ENSG00000108352 [Q9UHV5-2]
ENST00000456989; ENSP00000394530; ENSG00000108352 [Q9UHV5-3]
GeneIDi51195
KEGGihsa:51195
UCSCiuc060exk.1 human [Q9UHV5-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF117946 mRNA Translation: AAF22003.1
AK313492 mRNA Translation: BAG36274.1 Different initiation.
AC068669 Genomic DNA No translation available.
BC029956 mRNA No translation available.
BC115374 mRNA Translation: AAI15375.1
BC115375 mRNA Translation: AAI15376.1
CCDSiCCDS11363.2 [Q9UHV5-1]
CCDS77022.1 [Q9UHV5-3]
RefSeqiNP_001290462.1, NM_001303533.1 [Q9UHV5-3]
NP_057423.1, NM_016339.4
XP_006722000.1, XM_006721937.3 [Q9UHV5-2]
UniGeneiHs.632254

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2DHZNMR-A314-420[»]
ProteinModelPortaliQ9UHV5
SMRiQ9UHV5
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi119369, 3 interactors
IntActiQ9UHV5, 1 interactor
STRINGi9606.ENSP00000264644

PTM databases

iPTMnetiQ9UHV5
PhosphoSitePlusiQ9UHV5

Polymorphism and mutation databases

BioMutaiRAPGEFL1
DMDMi205829945

Proteomic databases

EPDiQ9UHV5
PaxDbiQ9UHV5
PeptideAtlasiQ9UHV5
PRIDEiQ9UHV5
ProteomicsDBi84414
84415 [Q9UHV5-2]
84416 [Q9UHV5-3]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000264644; ENSP00000264644; ENSG00000108352 [Q9UHV5-2]
ENST00000456989; ENSP00000394530; ENSG00000108352 [Q9UHV5-3]
GeneIDi51195
KEGGihsa:51195
UCSCiuc060exk.1 human [Q9UHV5-1]

Organism-specific databases

CTDi51195
EuPathDBiHostDB:ENSG00000108352.11
GeneCardsiRAPGEFL1
HGNCiHGNC:17428 RAPGEFL1
HPAiHPA022895
neXtProtiNX_Q9UHV5
OpenTargetsiENSG00000108352
PharmGKBiPA134884826
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2378 Eukaryota
ENOG410XPX9 LUCA
GeneTreeiENSGT00880000137870
HOGENOMiHOG000230545
HOVERGENiHBG056985
InParanoidiQ9UHV5
PhylomeDBiQ9UHV5
TreeFamiTF313184

Miscellaneous databases

ChiTaRSiRAPGEFL1 human
EvolutionaryTraceiQ9UHV5
GenomeRNAii51195
PROiPR:Q9UHV5

Gene expression databases

BgeeiENSG00000108352 Expressed in 164 organ(s), highest expression level in skin of abdomen
CleanExiHS_RAPGEFL1
ExpressionAtlasiQ9UHV5 baseline and differential
GenevisibleiQ9UHV5 HS

Family and domain databases

CDDicd00155 RasGEF, 1 hit
Gene3Di1.10.840.10, 1 hit
InterProiView protein in InterPro
IPR008937 Ras-like_GEF
IPR023578 Ras_GEF_dom_sf
IPR001895 RASGEF_cat_dom
IPR036964 RASGEF_cat_dom_sf
IPR029071 Ubiquitin-like_domsf
PANTHERiPTHR23113 PTHR23113, 1 hit
PfamiView protein in Pfam
PF00617 RasGEF, 1 hit
SMARTiView protein in SMART
SM00147 RasGEF, 1 hit
SUPFAMiSSF48366 SSF48366, 1 hit
SSF54236 SSF54236, 1 hit
PROSITEiView protein in PROSITE
PS50009 RASGEF_CAT, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiRPGFL_HUMAN
AccessioniPrimary (citable) accession number: Q9UHV5
Entry historyiIntegrated into UniProtKB/Swiss-Prot: September 2, 2008
Last sequence update: September 2, 2008
Last modified: November 7, 2018
This is version 129 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

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
  2. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
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