Q9UHV5 (RPGFL_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended 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

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	662 AA.
Sequence status	Complete.
Protein existence	Evidence 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.

Ontologies

Keywords
Coding sequence diversity	Alternative splicing
Molecular function	Guanine-nucleotide releasing factor
Technical term	3D-structure Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	G-protein coupled receptor signaling pathway Traceable author statement PubMed 9582122. Source: ProtInc nervous system development Traceable author statement PubMed 9789079. Source: ProtInc small GTPase mediated signal transduction Inferred from electronic annotation. Source: InterPro
Cellular_component	intracellular Inferred from electronic annotation. Source: InterPro membrane Traceable author statement PubMed 9582122. Source: ProtInc
Molecular_function	guanyl-nucleotide exchange factor activity Traceable author statement PubMed 9582122. Source: ProtInc
Complete GO annotation...

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 key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Chain

1 – 662

662

Rap guanine nucleotide exchange factor-like 1

PRO_0000349202

Regions

Domain

424 – 660

237

Ras-GEF

Compositional bias

17 – 118

102

Gly-rich

Natural variations

Alternative sequence

1 – 206

206

Missing in isoform 2.

VSP_035217

Alternative sequence

1 – 151

151

Missing in isoform 3.

VSP_035385

Alternative sequence

152 – 174

23

EHLLN…SAASD → MLIHPRGLPSSSHRRKINST YFY in isoform 3.

VSP_035386

Experimental info

Sequence conflict

81 – 82

2

VP → PE in BC029956. Ref.4

Secondary structure

1

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662

Helix Strand Turn

Details...

Beta strand

316 – 318

3

Beta strand

330 – 332

3

Helix

338 – 348

11

Beta strand

349 – 351

3

Beta strand

363 – 368

6

Helix

383 – 386

4

Beta strand

389 – 396

8

Turn

398 – 403

6

Beta strand

410 – 413

4

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified September 2, 2008. Version 2. Checksum: C6724336938D5769	FASTA	662	73,265
	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
	Isoform 2 [UniParc]. Checksum: 1BDD93BA234D98CA	FASTA	456	52,343
	10 20 30 40 50 60 MEGPEGLGRK QACLAMLLHF LDTYQGLLQE EEGAGHIIKD LYLLIMKDES LYQGLREDTL 70 80 90 100 110 120 RLHQLVETVE LKIPEENQPP SKQVKPLFRH FRRIDSCLQT RVAFRGSDEI FCRVYMPDHS 130 140 150 160 170 180 YVTIRSRLSA SVQDILGSVT EKLQYSEEPA GREDSLILVA VSSSGEKVLL QPTEDCVFTA 190 200 210 220 230 240 LGINSHLFAC TRDSYEALVP LPEEIQVSPG DTEIHRVEPE DVANHLTAFH WELFRCVHEL 250 260 270 280 290 300 EFVDYVFHGE RGRRETANLE LLLQRCSEVT HWVATEVLLC EAPGKRAQLL KKFIKIAALC 310 320 330 340 350 360 KQNQDLLSFY AVVMGLDNAA VSRLRLTWEK LPGKFKNLFR KFENLTDPCR NHKSYREVIS 370 380 390 400 410 420 KMKPPVIPFV PLILKDLTFL HEGSKTLVDG LVNIEKLHSV AEKVRTIRKY RSRPLCLDME 430 440 450 ASPNHLQTKA YVRQFQVIDN QNLLFELSYK LEANSQ
	Isoform 3 [UniParc]. Checksum: 26B7A9366FB9F5A8	FASTA	511	58,783
	10 20 30 40 50 60 MLIHPRGLPS SSHRRKINST YFYILLDDIV LTHSLFLPTE KFLQELHQYF VRAGGMEGPE 70 80 90 100 110 120 GLGRKQACLA MLLHFLDTYQ GLLQEEEGAG HIIKDLYLLI MKDESLYQGL REDTLRLHQL 130 140 150 160 170 180 VETVELKIPE ENQPPSKQVK PLFRHFRRID SCLQTRVAFR GSDEIFCRVY MPDHSYVTIR 190 200 210 220 230 240 SRLSASVQDI LGSVTEKLQY SEEPAGREDS LILVAVSSSG EKVLLQPTED CVFTALGINS 250 260 270 280 290 300 HLFACTRDSY EALVPLPEEI QVSPGDTEIH RVEPEDVANH LTAFHWELFR CVHELEFVDY 310 320 330 340 350 360 VFHGERGRRE TANLELLLQR CSEVTHWVAT EVLLCEAPGK RAQLLKKFIK IAALCKQNQD 370 380 390 400 410 420 LLSFYAVVMG LDNAAVSRLR LTWEKLPGKF KNLFRKFENL TDPCRNHKSY REVISKMKPP 430 440 450 460 470 480 VIPFVPLILK DLTFLHEGSK TLVDGLVNIE KLHSVAEKVR TIRKYRSRPL CLDMEASPNH 490 500 510 LQTKAYVRQF QVIDNQNLLF ELSYKLEANS Q

References

	« Hide 'large scale' referencesShow '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. , 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.

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.

IPI

IPI00008864.
IPI00902722.
IPI00902883.

RefSeq

NP_057423.1. NM_016339.3.

UniGene

Hs.741418.

3D structure databases

PDBe
RCSB PDB
PDBj

Entry	Method	Resolution (Å)	Chain	Positions	PDBsum
2DHZ	NMR	-	A	314-420	[»]

ProteinModelPortal

Q9UHV5.

ModBase

Search...

Protein-protein interaction databases

IntAct

Q9UHV5. 1 interaction.

STRING

9606.ENSP00000408322.

PTM databases

PhosphoSite

Q9UHV5.

Polymorphism databases

DMDM

205829945.

Proteomic databases

PaxDb

Q9UHV5.

PRIDE

Q9UHV5.

Protocols and materials databases

StructuralBiologyKnowledgebase

Search...

Genome annotation databases

Ensembl

ENST00000264644; ENSP00000264644; ENSG00000108352.
ENST00000436615; ENSP00000408322; ENSG00000108352.
ENST00000456989; ENSP00000394530; ENSG00000108352.

GeneID

51195.

KEGG

hsa:51195.

UCSC

uc010cwu.1. human.

Organism-specific databases

CTD

51195.

GeneCards

GC17P038333.

HGNC

HGNC:17428. RAPGEFL1.

HPA

HPA022895.

neXtProt

NX_Q9UHV5.

PharmGKB

PA134884826.

GenAtlas

Search...

Phylogenomic databases

eggNOG

NOG280292.

HOGENOM

HOG000230545.

HOVERGEN

HBG056985.

InParanoid

Q9UHV5.

OrthoDB

EOG4H72BM.

Gene expression databases

ArrayExpress

Q9UHV5.

Bgee

Q9UHV5.

CleanEx

HS_RAPGEFL1.

Genevestigator

Q9UHV5.

Family and domain databases

Gene3D

1.10.840.10. 1 hit.

InterPro

IPR008937. Ras_GEF.
IPR023578. Ras_GEF_dom.
IPR001895. RasGRF_CDC25.
[Graphical view]

PANTHER

PTHR23113. PTHR23113. 1 hit.

Pfam

PF00617. RasGEF. 1 hit.
[Graphical view]

SMART

SM00147. RasGEF. 1 hit.
[Graphical view]

SUPFAM

SSF48366. Ras_GEF. 1 hit.

PROSITE

PS00720. RASGEF. False negative.
PS50009. RASGEF_CAT. 1 hit.
[Graphical view]

ProtoNet

Search...

Other

ChiTaRS

RAPGEFL1. human.

EvolutionaryTrace

Q9UHV5.

GenomeRNAi

51195.

NextBio

54206.

Entry information

Entry name

RPGFL_HUMAN

Accession

Primary (citable) accession number: Q9UHV5

Entry history

Integrated into UniProtKB/Swiss-Prot:	September 2, 2008
Last sequence update:	September 2, 2008
Last modified:	May 1, 2013
This is version 87 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.