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Protein

Rap guanine nucleotide exchange factor-like 1

Gene

RAPGEFL1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-Experimental evidence at protein leveli

Functioni

Probable guanine nucleotide exchange factor (GEF).

GO - Molecular functioni

  1. guanyl-nucleotide exchange factor activity Source: ProtInc

GO - Biological processi

  1. G-protein coupled receptor signaling pathway Source: ProtInc
  2. nervous system development Source: ProtInc
  3. positive regulation of GTPase activity Source: GOC
  4. small GTPase mediated signal transduction Source: InterPro
Complete GO annotation...

Keywords - Molecular functioni

Guanine-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
ProteomesiUP000005640 Componenti: Chromosome 17

Organism-specific databases

HGNCiHGNC:17428. RAPGEFL1.

Subcellular locationi

GO - Cellular componenti

  1. membrane Source: ProtInc
Complete GO annotation...

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA134884826.

Polymorphism and mutation databases

BioMutaiRAPGEFL1.
DMDMi205829945.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 662662Rap guanine nucleotide exchange factor-like 1PRO_0000349202Add
BLAST

Proteomic databases

MaxQBiQ9UHV5.
PaxDbiQ9UHV5.
PRIDEiQ9UHV5.

PTM databases

PhosphoSiteiQ9UHV5.

Expressioni

Gene expression databases

BgeeiQ9UHV5.
CleanExiHS_RAPGEFL1.
ExpressionAtlasiQ9UHV5. baseline and differential.
GenevestigatoriQ9UHV5.

Organism-specific databases

HPAiHPA022895.

Interactioni

Protein-protein interaction databases

BioGridi119369. 3 interactions.
IntActiQ9UHV5. 1 interaction.
STRINGi9606.ENSP00000408322.

Structurei

Secondary structure

1
662
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Beta strandi316 – 3183Combined sources
Beta strandi330 – 3323Combined sources
Helixi338 – 34811Combined sources
Beta strandi349 – 3513Combined sources
Beta strandi363 – 3686Combined sources
Helixi383 – 3864Combined sources
Beta strandi389 – 3968Combined sources
Turni398 – 4036Combined sources
Beta strandi410 – 4134Combined sources

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
2DHZNMR-A314-420[»]
ProteinModelPortaliQ9UHV5.
SMRiQ9UHV5. Positions 151-658.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ9UHV5.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini424 – 660237Ras-GEFPROSITE-ProRule annotationAdd
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi17 – 118102Gly-richAdd
BLAST

Sequence similaritiesi

Contains 1 Ras-GEF domain.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiNOG280292.
GeneTreeiENSGT00780000121847.
HOGENOMiHOG000230545.
HOVERGENiHBG056985.
InParanoidiQ9UHV5.
OMAiHQYFVRA.
OrthoDBiEOG7ZD1TF.
PhylomeDBiQ9UHV5.
TreeFamiTF313184.

Family and domain databases

Gene3Di1.10.840.10. 1 hit.
InterProiIPR023578. Ras_GEF_dom.
IPR001895. RASGEF_cat_dom.
IPR029071. Ubiquitin-rel_dom.
[Graphical view]
PfamiPF00617. RasGEF. 1 hit.
[Graphical view]
SMARTiSM00147. RasGEF. 1 hit.
[Graphical view]
SUPFAMiSSF48366. SSF48366. 2 hits.
SSF54236. SSF54236. 1 hit.
PROSITEiPS50009. RASGEF_CAT. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

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

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

Sequence cautioni

The sequence BAG36274.1 differs from that shown. Reason: Erroneous initiation. Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti81 – 822VP → PE in BC029956 (PubMed:15489334).Curated

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 206206Missing in isoform 2. 2 PublicationsVSP_035217Add
BLAST
Alternative sequencei1 – 151151Missing in isoform 3. 1 PublicationVSP_035385Add
BLAST
Alternative sequencei152 – 17423EHLLN…SAASD → MLIHPRGLPSSSHRRKINST YFY in isoform 3. 1 PublicationVSP_035386Add
BLAST

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.
CCDSiCCDS11363.1. [Q9UHV5-2]
RefSeqiNP_057423.1. NM_016339.4. [Q9UHV5-2]
XP_006722000.1. XM_006721937.2. [Q9UHV5-2]
UniGeneiHs.632254.

Genome annotation databases

EnsembliENST00000264644; ENSP00000264644; ENSG00000108352. [Q9UHV5-2]
ENST00000456989; ENSP00000394530; ENSG00000108352. [Q9UHV5-3]
GeneIDi51195.
KEGGihsa:51195.
UCSCiuc010cwu.1. human. [Q9UHV5-1]

Polymorphism and mutation databases

BioMutaiRAPGEFL1.

Keywords - Coding sequence diversityi

Alternative splicing

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.
CCDSiCCDS11363.1. [Q9UHV5-2]
RefSeqiNP_057423.1. NM_016339.4. [Q9UHV5-2]
XP_006722000.1. XM_006721937.2. [Q9UHV5-2]
UniGeneiHs.632254.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
2DHZNMR-A314-420[»]
ProteinModelPortaliQ9UHV5.
SMRiQ9UHV5. Positions 151-658.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi119369. 3 interactions.
IntActiQ9UHV5. 1 interaction.
STRINGi9606.ENSP00000408322.

PTM databases

PhosphoSiteiQ9UHV5.

Polymorphism and mutation databases

BioMutaiRAPGEFL1.
DMDMi205829945.

Proteomic databases

MaxQBiQ9UHV5.
PaxDbiQ9UHV5.
PRIDEiQ9UHV5.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000264644; ENSP00000264644; ENSG00000108352. [Q9UHV5-2]
ENST00000456989; ENSP00000394530; ENSG00000108352. [Q9UHV5-3]
GeneIDi51195.
KEGGihsa:51195.
UCSCiuc010cwu.1. human. [Q9UHV5-1]

Organism-specific databases

CTDi51195.
GeneCardsiGC17P038333.
HGNCiHGNC:17428. RAPGEFL1.
HPAiHPA022895.
neXtProtiNX_Q9UHV5.
PharmGKBiPA134884826.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG280292.
GeneTreeiENSGT00780000121847.
HOGENOMiHOG000230545.
HOVERGENiHBG056985.
InParanoidiQ9UHV5.
OMAiHQYFVRA.
OrthoDBiEOG7ZD1TF.
PhylomeDBiQ9UHV5.
TreeFamiTF313184.

Miscellaneous databases

ChiTaRSiRAPGEFL1. human.
EvolutionaryTraceiQ9UHV5.
GenomeRNAii51195.
NextBioi54206.
PROiQ9UHV5.

Gene expression databases

BgeeiQ9UHV5.
CleanExiHS_RAPGEFL1.
ExpressionAtlasiQ9UHV5. baseline and differential.
GenevestigatoriQ9UHV5.

Family and domain databases

Gene3Di1.10.840.10. 1 hit.
InterProiIPR023578. Ras_GEF_dom.
IPR001895. RASGEF_cat_dom.
IPR029071. Ubiquitin-rel_dom.
[Graphical view]
PfamiPF00617. RasGEF. 1 hit.
[Graphical view]
SMARTiSM00147. RasGEF. 1 hit.
[Graphical view]
SUPFAMiSSF48366. SSF48366. 2 hits.
SSF54236. SSF54236. 1 hit.
PROSITEiPS50009. RASGEF_CAT. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "A new family of Rap guanine nucleotide exchange factors."
    Kawasaki H., Chen E.J., Springett G.M., Graybiel A.M., Housman D.E.
    Submitted (JAN-1999) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
  2. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
    Tissue: Tongue.
  3. "DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage."
    Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R., Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A., Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J., Chang J.L.
    , Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J., DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D., Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A., Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.
    Nature 440:1045-1049(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-459 (ISOFORM 1).
  5. "Solution structure of the RA domain in the human link guanine nucleotide exchange factor II (Link-GEFII)."
    RIKEN structural genomics initiative (RSGI)
    Submitted (SEP-2006) to the PDB data bank
    Cited for: STRUCTURE BY NMR OF 314-420.

Entry informationi

Entry nameiRPGFL_HUMAN
AccessioniPrimary (citable) accession number: Q9UHV5
Entry historyi
Integrated into UniProtKB/Swiss-Prot: September 2, 2008
Last sequence update: September 2, 2008
Last modified: April 29, 2015
This is version 107 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

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
  3. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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 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.