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Q9UHV5 (RPGFL_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 97. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (3) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Rap guanine nucleotide exchange factor-like 1
Alternative name(s):
Link guanine nucleotide exchange factor II
Short name=Link GEFII
Gene names
Name:RAPGEFL1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length662 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Probable guanine nucleotide exchange factor (GEF).

Sequence similarities

Contains 1 Ras-GEF domain.

Sequence caution

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

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q9UHV5-1)

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.
Isoform 2 (identifier: Q9UHV5-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-206: Missing.
Isoform 3 (identifier: Q9UHV5-3)

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 662662Rap guanine nucleotide exchange factor-like 1
PRO_0000349202

Regions

Domain424 – 660237Ras-GEF
Compositional bias17 – 118102Gly-rich

Natural variations

Alternative sequence1 – 206206Missing in isoform 2.
VSP_035217
Alternative sequence1 – 151151Missing in isoform 3.
VSP_035385
Alternative sequence152 – 17423EHLLN…SAASD → MLIHPRGLPSSSHRRKINST YFY in isoform 3.
VSP_035386

Experimental info

Sequence conflict81 – 822VP → PE in BC029956. Ref.4

Secondary structure

.................. 662
Helix Strand Turn

Details...

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified September 2, 2008. Version 2.
Checksum: C6724336938D5769

FASTA66273,265
        10         20         30         40         50         60 
MKPLEKFLKK QTSQLAGRTV AGGPGGGLGS CGGPGGGGGP GGGGGPAGGQ RSLQRRQSVS 

        70         80         90        100        110        120 
RLLLPAFLRE PPAEPGLEPP VPEEGGEPAG VAEEPGSGGP CWLQLEEVPG PGPLGGGGPL 

       130        140        150        160        170        180 
RSPSSYSSDE LSPGEPLTSP PWAPLGAPER PEHLLNRVLE RLAGGATRDS AASDILLDDI 

       190        200        210        220        230        240 
VLTHSLFLPT EKFLQELHQY FVRAGGMEGP EGLGRKQACL AMLLHFLDTY QGLLQEEEGA 

       250        260        270        280        290        300 
GHIIKDLYLL IMKDESLYQG LREDTLRLHQ LVETVELKIP EENQPPSKQV KPLFRHFRRI 

       310        320        330        340        350        360 
DSCLQTRVAF RGSDEIFCRV YMPDHSYVTI RSRLSASVQD ILGSVTEKLQ YSEEPAGRED 

       370        380        390        400        410        420 
SLILVAVSSS GEKVLLQPTE DCVFTALGIN SHLFACTRDS YEALVPLPEE IQVSPGDTEI 

       430        440        450        460        470        480 
HRVEPEDVAN HLTAFHWELF RCVHELEFVD YVFHGERGRR ETANLELLLQ RCSEVTHWVA 

       490        500        510        520        530        540 
TEVLLCEAPG KRAQLLKKFI KIAALCKQNQ DLLSFYAVVM GLDNAAVSRL RLTWEKLPGK 

       550        560        570        580        590        600 
FKNLFRKFEN LTDPCRNHKS YREVISKMKP PVIPFVPLIL KDLTFLHEGS KTLVDGLVNI 

       610        620        630        640        650        660 
EKLHSVAEKV RTIRKYRSRP LCLDMEASPN HLQTKAYVRQ FQVIDNQNLL FELSYKLEAN 


SQ 

« Hide

Isoform 2 [UniParc].

Checksum: 1BDD93BA234D98CA
Show »

FASTA45652,343
Isoform 3 [UniParc].

Checksum: 26B7A9366FB9F5A8
Show »

FASTA51158,783

References

« Hide 'large scale' references
[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. expand/collapse author list , 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. expand/collapse author list , 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.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
RefSeqNP_057423.1. NM_016339.3.
UniGeneHs.632254.

3D structure databases

PDBe
RCSB PDB
PDBj
EntryMethodResolution (Å)ChainPositionsPDBsum
2DHZNMR-A314-420[»]
ProteinModelPortalQ9UHV5.
SMRQ9UHV5. Positions 151-658.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid119369. 2 interactions.
IntActQ9UHV5. 1 interaction.
STRING9606.ENSP00000408322.

PTM databases

PhosphoSiteQ9UHV5.

Polymorphism databases

DMDM205829945.

Proteomic databases

PaxDbQ9UHV5.
PRIDEQ9UHV5.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000264644; ENSP00000264644; ENSG00000108352. [Q9UHV5-2]
ENST00000436615; ENSP00000408322; ENSG00000108352. [Q9UHV5-2]
ENST00000456989; ENSP00000394530; ENSG00000108352. [Q9UHV5-3]
GeneID51195.
KEGGhsa:51195.
UCSCuc010cwu.1. human. [Q9UHV5-1]

Organism-specific databases

CTD51195.
GeneCardsGC17P038333.
HGNCHGNC:17428. RAPGEFL1.
HPAHPA022895.
neXtProtNX_Q9UHV5.
PharmGKBPA134884826.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG280292.
HOGENOMHOG000230545.
HOVERGENHBG056985.
InParanoidQ9UHV5.
OMAFVRAGGM.
OrthoDBEOG7ZD1TF.
PhylomeDBQ9UHV5.
TreeFamTF313184.

Gene expression databases

ArrayExpressQ9UHV5.
BgeeQ9UHV5.
CleanExHS_RAPGEFL1.
GenevestigatorQ9UHV5.

Family and domain databases

Gene3D1.10.840.10. 1 hit.
InterProIPR008937. Ras_GEF.
IPR023578. Ras_GEF_dom.
IPR001895. RasGRF_CDC25.
[Graphical view]
PANTHERPTHR23113. PTHR23113. 1 hit.
PfamPF00617. RasGEF. 1 hit.
[Graphical view]
SMARTSM00147. RasGEF. 1 hit.
[Graphical view]
SUPFAMSSF48366. SSF48366. 2 hits.
PROSITEPS50009. RASGEF_CAT. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSRAPGEFL1. human.
EvolutionaryTraceQ9UHV5.
GenomeRNAi51195.
NextBio54206.
PROQ9UHV5.

Entry information

Entry nameRPGFL_HUMAN
AccessionPrimary (citable) accession number: Q9UHV5
Entry history
Integrated into UniProtKB/Swiss-Prot: September 2, 2008
Last sequence update: September 2, 2008
Last modified: April 16, 2014
This is version 97 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

Human chromosome 17

Human chromosome 17: entries, gene names and cross-references to MIM