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Rap guanine nucleotide exchange factor-like 1 (Link guanine nucleotide exchange factor II) (Link GEFII)

 RPGFL_HUMAN             Reviewed;         662 AA.
Q9UHV5;
02-SEP-2008, integrated into UniProtKB/Swiss-Prot.
02-SEP-2008, sequence version 2.
12-SEP-2018, entry version 128.
RecName: Full=Rap guanine nucleotide exchange factor-like 1;
AltName: Full=Link guanine nucleotide exchange factor II;
Short=Link GEFII;
Name=RAPGEFL1;
Homo sapiens (Human).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
NCBI_TaxID=9606;
[1]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
Kawasaki H., Chen E.J., Springett G.M., Graybiel A.M., Housman D.E.;
"A new family of Rap guanine nucleotide exchange factors.";
Submitted (JAN-1999) to the EMBL/GenBank/DDBJ databases.
[2]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
TISSUE=Tongue;
PubMed=14702039; DOI=10.1038/ng1285;
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.;
"Complete sequencing and characterization of 21,243 full-length human
cDNAs.";
Nat. Genet. 36:40-45(2004).
[3]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
PubMed=16625196; DOI=10.1038/nature04689;
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.;
"DNA sequence of human chromosome 17 and analysis of rearrangement in
the human lineage.";
Nature 440:1045-1049(2006).
[4]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), AND NUCLEOTIDE
SEQUENCE [LARGE SCALE MRNA] OF 1-459 (ISOFORM 1).
PubMed=15489334; DOI=10.1101/gr.2596504;
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA
project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
[5]
STRUCTURE BY NMR OF 314-420.
RIKEN structural genomics initiative (RSGI);
"Solution structure of the RA domain in the human link guanine
nucleotide exchange factor II (Link-GEFII).";
Submitted (SEP-2006) to the PDB data bank.
-!- FUNCTION: Probable guanine nucleotide exchange factor (GEF).
-!- ALTERNATIVE PRODUCTS:
Event=Alternative splicing; Named isoforms=3;
Name=1;
IsoId=Q9UHV5-1; Sequence=Displayed;
Name=2;
IsoId=Q9UHV5-2; Sequence=VSP_035217;
Name=3;
IsoId=Q9UHV5-3; Sequence=VSP_035385, VSP_035386;
-!- SEQUENCE CAUTION:
Sequence=BAG36274.1; Type=Erroneous initiation; Evidence={ECO:0000305};
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EMBL; AF117946; AAF22003.1; -; mRNA.
EMBL; AK313492; BAG36274.1; ALT_INIT; mRNA.
EMBL; AC068669; -; NOT_ANNOTATED_CDS; Genomic_DNA.
EMBL; BC029956; -; NOT_ANNOTATED_CDS; mRNA.
EMBL; BC115374; AAI15375.1; -; mRNA.
EMBL; BC115375; AAI15376.1; -; mRNA.
CCDS; CCDS11363.2; -. [Q9UHV5-1]
CCDS; CCDS77022.1; -. [Q9UHV5-3]
RefSeq; NP_001290462.1; NM_001303533.1. [Q9UHV5-3]
RefSeq; NP_057423.1; NM_016339.4.
RefSeq; XP_006722000.1; XM_006721937.3. [Q9UHV5-2]
UniGene; Hs.632254; -.
PDB; 2DHZ; NMR; -; A=314-420.
PDBsum; 2DHZ; -.
ProteinModelPortal; Q9UHV5; -.
SMR; Q9UHV5; -.
BioGrid; 119369; 3.
IntAct; Q9UHV5; 1.
STRING; 9606.ENSP00000264644; -.
iPTMnet; Q9UHV5; -.
PhosphoSitePlus; Q9UHV5; -.
BioMuta; RAPGEFL1; -.
DMDM; 205829945; -.
EPD; Q9UHV5; -.
PaxDb; Q9UHV5; -.
PeptideAtlas; Q9UHV5; -.
PRIDE; Q9UHV5; -.
ProteomicsDB; 84414; -.
ProteomicsDB; 84415; -. [Q9UHV5-2]
ProteomicsDB; 84416; -. [Q9UHV5-3]
Ensembl; ENST00000264644; ENSP00000264644; ENSG00000108352. [Q9UHV5-2]
Ensembl; ENST00000456989; ENSP00000394530; ENSG00000108352. [Q9UHV5-3]
GeneID; 51195; -.
KEGG; hsa:51195; -.
UCSC; uc060exk.1; human. [Q9UHV5-1]
CTD; 51195; -.
EuPathDB; HostDB:ENSG00000108352.11; -.
GeneCards; RAPGEFL1; -.
HGNC; HGNC:17428; RAPGEFL1.
HPA; HPA022895; -.
neXtProt; NX_Q9UHV5; -.
OpenTargets; ENSG00000108352; -.
PharmGKB; PA134884826; -.
eggNOG; KOG2378; Eukaryota.
eggNOG; ENOG410XPX9; LUCA.
GeneTree; ENSGT00880000137870; -.
HOGENOM; HOG000230545; -.
HOVERGEN; HBG056985; -.
InParanoid; Q9UHV5; -.
PhylomeDB; Q9UHV5; -.
TreeFam; TF313184; -.
ChiTaRS; RAPGEFL1; human.
EvolutionaryTrace; Q9UHV5; -.
GenomeRNAi; 51195; -.
PRO; PR:Q9UHV5; -.
Proteomes; UP000005640; Chromosome 17.
Bgee; ENSG00000108352; Expressed in 164 organ(s), highest expression level in skin of abdomen.
CleanEx; HS_RAPGEFL1; -.
ExpressionAtlas; Q9UHV5; baseline and differential.
Genevisible; Q9UHV5; HS.
GO; GO:0005622; C:intracellular; IEA:GOC.
GO; GO:0016020; C:membrane; TAS:ProtInc.
GO; GO:0005085; F:guanyl-nucleotide exchange factor activity; TAS:ProtInc.
GO; GO:0007186; P:G-protein coupled receptor signaling pathway; TAS:ProtInc.
GO; GO:0007399; P:nervous system development; TAS:ProtInc.
GO; GO:0007264; P:small GTPase mediated signal transduction; IEA:InterPro.
CDD; cd00155; RasGEF; 1.
Gene3D; 1.10.840.10; -; 1.
InterPro; IPR023578; Ras_GEF_dom_sf.
InterPro; IPR001895; RASGEF_cat_dom.
InterPro; IPR036964; RASGEF_cat_dom_sf.
InterPro; IPR029071; Ubiquitin-like_domsf.
Pfam; PF00617; RasGEF; 1.
SMART; SM00147; RasGEF; 1.
SUPFAM; SSF48366; SSF48366; 2.
SUPFAM; SSF54236; SSF54236; 1.
PROSITE; PS50009; RASGEF_CAT; 1.
1: Evidence at protein level;
3D-structure; Alternative splicing; Complete proteome;
Guanine-nucleotide releasing factor; Reference proteome.
CHAIN 1 662 Rap guanine nucleotide exchange factor-
like 1.
/FTId=PRO_0000349202.
DOMAIN 424 660 Ras-GEF. {ECO:0000255|PROSITE-
ProRule:PRU00168}.
COMPBIAS 17 118 Gly-rich.
VAR_SEQ 1 206 Missing (in isoform 2).
{ECO:0000303|PubMed:15489334,
ECO:0000303|Ref.1}.
/FTId=VSP_035217.
VAR_SEQ 1 151 Missing (in isoform 3).
{ECO:0000303|PubMed:14702039}.
/FTId=VSP_035385.
VAR_SEQ 152 174 EHLLNRVLERLAGGATRDSAASD -> MLIHPRGLPSSSHR
RKINSTYFY (in isoform 3).
{ECO:0000303|PubMed:14702039}.
/FTId=VSP_035386.
CONFLICT 81 82 VP -> PE (in Ref. 4; BC029956).
{ECO:0000305}.
STRAND 316 318 {ECO:0000244|PDB:2DHZ}.
STRAND 330 332 {ECO:0000244|PDB:2DHZ}.
HELIX 338 348 {ECO:0000244|PDB:2DHZ}.
STRAND 349 351 {ECO:0000244|PDB:2DHZ}.
STRAND 363 368 {ECO:0000244|PDB:2DHZ}.
HELIX 383 386 {ECO:0000244|PDB:2DHZ}.
STRAND 389 396 {ECO:0000244|PDB:2DHZ}.
TURN 398 403 {ECO:0000244|PDB:2DHZ}.
STRAND 410 413 {ECO:0000244|PDB:2DHZ}.
SEQUENCE 662 AA; 73265 MW; C6724336938D5769 CRC64;
MKPLEKFLKK QTSQLAGRTV AGGPGGGLGS CGGPGGGGGP GGGGGPAGGQ RSLQRRQSVS
RLLLPAFLRE PPAEPGLEPP VPEEGGEPAG VAEEPGSGGP CWLQLEEVPG PGPLGGGGPL
RSPSSYSSDE LSPGEPLTSP PWAPLGAPER PEHLLNRVLE RLAGGATRDS AASDILLDDI
VLTHSLFLPT EKFLQELHQY FVRAGGMEGP EGLGRKQACL AMLLHFLDTY QGLLQEEEGA
GHIIKDLYLL IMKDESLYQG LREDTLRLHQ LVETVELKIP EENQPPSKQV KPLFRHFRRI
DSCLQTRVAF RGSDEIFCRV YMPDHSYVTI RSRLSASVQD ILGSVTEKLQ YSEEPAGRED
SLILVAVSSS GEKVLLQPTE DCVFTALGIN SHLFACTRDS YEALVPLPEE IQVSPGDTEI
HRVEPEDVAN HLTAFHWELF RCVHELEFVD YVFHGERGRR ETANLELLLQ RCSEVTHWVA
TEVLLCEAPG KRAQLLKKFI KIAALCKQNQ DLLSFYAVVM GLDNAAVSRL RLTWEKLPGK
FKNLFRKFEN LTDPCRNHKS YREVISKMKP PVIPFVPLIL KDLTFLHEGS KTLVDGLVNI
EKLHSVAEKV RTIRKYRSRP LCLDMEASPN HLQTKAYVRQ FQVIDNQNLL FELSYKLEAN
SQ


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