RPGFL_HUMAN
ID RPGFL_HUMAN Reviewed; 662 AA.
AC Q9UHV5;
DT 02-SEP-2008, integrated into UniProtKB/Swiss-Prot.
DT 02-SEP-2008, sequence version 2.
DT 03-AUG-2022, entry version 149.
DE RecName: Full=Rap guanine nucleotide exchange factor-like 1;
DE AltName: Full=Link guanine nucleotide exchange factor II;
DE Short=Link GEFII;
GN Name=RAPGEFL1;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
RA Kawasaki H., Chen E.J., Springett G.M., Graybiel A.M., Housman D.E.;
RT "A new family of Rap guanine nucleotide exchange factors.";
RL Submitted (JAN-1999) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
RC TISSUE=Tongue;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16625196; DOI=10.1038/nature04689;
RA Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R.,
RA Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A.,
RA Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J.,
RA Chang J.L., Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J.,
RA DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S.,
RA Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E.,
RA Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K.,
RA LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J.,
RA Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A.,
RA Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K.,
RA Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D.,
RA Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A.,
RA Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.;
RT "DNA sequence of human chromosome 17 and analysis of rearrangement in the
RT human lineage.";
RL Nature 440:1045-1049(2006).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), AND NUCLEOTIDE SEQUENCE
RP [LARGE SCALE MRNA] OF 1-459 (ISOFORM 1).
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [5]
RP STRUCTURE BY NMR OF 314-420.
RG RIKEN structural genomics initiative (RSGI);
RT "Solution structure of the RA domain in the human link guanine nucleotide
RT exchange factor II (Link-GEFII).";
RL Submitted (SEP-2006) to the PDB data bank.
CC -!- FUNCTION: Probable guanine nucleotide exchange factor (GEF).
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q9UHV5-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9UHV5-2; Sequence=VSP_035217;
CC Name=3;
CC IsoId=Q9UHV5-3; Sequence=VSP_035385, VSP_035386;
CC -!- SEQUENCE CAUTION:
CC Sequence=BAG36274.1; Type=Erroneous initiation; Evidence={ECO:0000305};
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DR EMBL; AF117946; AAF22003.1; -; mRNA.
DR EMBL; AK313492; BAG36274.1; ALT_INIT; mRNA.
DR EMBL; AC068669; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC029956; -; NOT_ANNOTATED_CDS; mRNA.
DR EMBL; BC115374; AAI15375.1; -; mRNA.
DR EMBL; BC115375; AAI15376.1; -; mRNA.
DR CCDS; CCDS11363.2; -. [Q9UHV5-1]
DR CCDS; CCDS77022.1; -. [Q9UHV5-3]
DR RefSeq; NP_001290462.1; NM_001303533.1. [Q9UHV5-3]
DR RefSeq; NP_057423.1; NM_016339.4.
DR RefSeq; XP_006722000.1; XM_006721937.3. [Q9UHV5-2]
DR PDB; 2DHZ; NMR; -; A=314-420.
DR PDBsum; 2DHZ; -.
DR AlphaFoldDB; Q9UHV5; -.
DR BMRB; Q9UHV5; -.
DR SMR; Q9UHV5; -.
DR BioGRID; 119369; 5.
DR IntAct; Q9UHV5; 3.
DR STRING; 9606.ENSP00000264644; -.
DR GlyGen; Q9UHV5; 2 sites, 1 O-linked glycan (2 sites).
DR iPTMnet; Q9UHV5; -.
DR PhosphoSitePlus; Q9UHV5; -.
DR BioMuta; RAPGEFL1; -.
DR DMDM; 205829945; -.
DR EPD; Q9UHV5; -.
DR jPOST; Q9UHV5; -.
DR MassIVE; Q9UHV5; -.
DR MaxQB; Q9UHV5; -.
DR PaxDb; Q9UHV5; -.
DR PeptideAtlas; Q9UHV5; -.
DR PRIDE; Q9UHV5; -.
DR ProteomicsDB; 84414; -. [Q9UHV5-1]
DR ProteomicsDB; 84415; -. [Q9UHV5-2]
DR ProteomicsDB; 84416; -. [Q9UHV5-3]
DR Antibodypedia; 16447; 80 antibodies from 21 providers.
DR DNASU; 51195; -.
DR Ensembl; ENST00000264644.10; ENSP00000264644.5; ENSG00000108352.13. [Q9UHV5-2]
DR Ensembl; ENST00000456989.6; ENSP00000394530.2; ENSG00000108352.13. [Q9UHV5-3]
DR GeneID; 51195; -.
DR KEGG; hsa:51195; -.
DR UCSC; uc060exk.1; human. [Q9UHV5-1]
DR CTD; 51195; -.
DR DisGeNET; 51195; -.
DR GeneCards; RAPGEFL1; -.
DR HGNC; HGNC:17428; RAPGEFL1.
DR HPA; ENSG00000108352; Tissue enhanced (esophagus, skin, vagina).
DR neXtProt; NX_Q9UHV5; -.
DR OpenTargets; ENSG00000108352; -.
DR PharmGKB; PA134884826; -.
DR VEuPathDB; HostDB:ENSG00000108352; -.
DR eggNOG; KOG2378; Eukaryota.
DR GeneTree; ENSGT00940000160144; -.
DR HOGENOM; CLU_028002_1_0_1; -.
DR InParanoid; Q9UHV5; -.
DR OrthoDB; 143470at2759; -.
DR PhylomeDB; Q9UHV5; -.
DR TreeFam; TF313184; -.
DR PathwayCommons; Q9UHV5; -.
DR SignaLink; Q9UHV5; -.
DR BioGRID-ORCS; 51195; 15 hits in 1072 CRISPR screens.
DR ChiTaRS; RAPGEFL1; human.
DR EvolutionaryTrace; Q9UHV5; -.
DR GenomeRNAi; 51195; -.
DR Pharos; Q9UHV5; Tdark.
DR PRO; PR:Q9UHV5; -.
DR Proteomes; UP000005640; Chromosome 17.
DR RNAct; Q9UHV5; protein.
DR Bgee; ENSG00000108352; Expressed in lower esophagus mucosa and 142 other tissues.
DR ExpressionAtlas; Q9UHV5; baseline and differential.
DR Genevisible; Q9UHV5; HS.
DR GO; GO:0016020; C:membrane; TAS:ProtInc.
DR GO; GO:0005886; C:plasma membrane; IBA:GO_Central.
DR GO; GO:0005085; F:guanyl-nucleotide exchange factor activity; IBA:GO_Central.
DR GO; GO:0007186; P:G protein-coupled receptor signaling pathway; TAS:ProtInc.
DR GO; GO:0007399; P:nervous system development; TAS:ProtInc.
DR GO; GO:0043547; P:positive regulation of GTPase activity; IBA:GO_Central.
DR GO; GO:0007265; P:Ras protein signal transduction; IBA:GO_Central.
DR CDD; cd00155; RasGEF; 1.
DR Gene3D; 1.10.840.10; -; 1.
DR InterPro; IPR008937; Ras-like_GEF.
DR InterPro; IPR023578; Ras_GEF_dom_sf.
DR InterPro; IPR001895; RASGEF_cat_dom.
DR InterPro; IPR036964; RASGEF_cat_dom_sf.
DR InterPro; IPR029071; Ubiquitin-like_domsf.
DR PANTHER; PTHR23113; PTHR23113; 1.
DR Pfam; PF00617; RasGEF; 1.
DR SMART; SM00147; RasGEF; 1.
DR SUPFAM; SSF48366; SSF48366; 1.
DR SUPFAM; SSF54236; SSF54236; 1.
DR PROSITE; PS50009; RASGEF_CAT; 1.
PE 1: Evidence at protein level;
KW 3D-structure; Alternative splicing; Guanine-nucleotide releasing factor;
KW Reference proteome.
FT CHAIN 1..662
FT /note="Rap guanine nucleotide exchange factor-like 1"
FT /id="PRO_0000349202"
FT DOMAIN 424..660
FT /note="Ras-GEF"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00168"
FT REGION 1..149
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 1..206
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334, ECO:0000303|Ref.1"
FT /id="VSP_035217"
FT VAR_SEQ 1..151
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_035385"
FT VAR_SEQ 152..174
FT /note="EHLLNRVLERLAGGATRDSAASD -> MLIHPRGLPSSSHRRKINSTYFY
FT (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_035386"
FT CONFLICT 81..82
FT /note="VP -> PE (in Ref. 4; BC029956)"
FT /evidence="ECO:0000305"
FT STRAND 316..318
FT /evidence="ECO:0007829|PDB:2DHZ"
FT STRAND 330..332
FT /evidence="ECO:0007829|PDB:2DHZ"
FT HELIX 338..348
FT /evidence="ECO:0007829|PDB:2DHZ"
FT STRAND 349..351
FT /evidence="ECO:0007829|PDB:2DHZ"
FT STRAND 363..368
FT /evidence="ECO:0007829|PDB:2DHZ"
FT HELIX 383..386
FT /evidence="ECO:0007829|PDB:2DHZ"
FT STRAND 389..396
FT /evidence="ECO:0007829|PDB:2DHZ"
FT TURN 398..403
FT /evidence="ECO:0007829|PDB:2DHZ"
FT STRAND 410..413
FT /evidence="ECO:0007829|PDB:2DHZ"
SQ 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
