RGF1A_HUMAN
ID RGF1A_HUMAN Reviewed; 481 AA.
AC Q8N9B8; Q8TBF1;
DT 21-AUG-2007, integrated into UniProtKB/Swiss-Prot.
DT 21-AUG-2007, sequence version 2.
DT 03-AUG-2022, entry version 136.
DE RecName: Full=Ras-GEF domain-containing family member 1A;
GN Name=RASGEF1A;
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 [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Substantia nigra;
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 [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Brain;
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 [3]
RP FUNCTION, AND TISSUE SPECIFICITY.
RX PubMed=17121879; DOI=10.1158/1078-0432.ccr-06-0783;
RA Ura K., Obama K., Satoh S., Sakai Y., Nakamura Y., Furukawa Y.;
RT "Enhanced RASGEF1A expression is involved in the growth and migration of
RT intrahepatic cholangiocarcinoma.";
RL Clin. Cancer Res. 12:6611-6616(2006).
RN [4]
RP FUNCTION.
RX PubMed=19645719; DOI=10.1111/j.1742-4658.2009.07166.x;
RA Yaman E., Gasper R., Koerner C., Wittinghofer A., Tazebay U.H.;
RT "RasGEF1A and RasGEF1B are guanine nucleotide exchange factors that
RT discriminate between Rap GTP-binding proteins and mediate Rap2-specific
RT nucleotide exchange.";
RL FEBS J. 276:4607-4616(2009).
CC -!- FUNCTION: Guanine nucleotide exchange factor (GEF) with specificity for
CC RAP2A, KRAS, HRAS, and NRAS (in vitro). Plays a role in cell migration.
CC {ECO:0000269|PubMed:17121879, ECO:0000269|PubMed:19645719}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q8N9B8-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q8N9B8-2; Sequence=VSP_027312;
CC -!- TISSUE SPECIFICITY: Detected in brain and spinal cord. Highly expressed
CC in a number of intrahepatic cholangiocarcinoma tissue biopsies.
CC {ECO:0000269|PubMed:17121879}.
CC ---------------------------------------------------------------------------
CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms
CC Distributed under the Creative Commons Attribution (CC BY 4.0) License
CC ---------------------------------------------------------------------------
DR EMBL; AK095136; BAC04491.1; -; mRNA.
DR EMBL; BC022548; AAH22548.2; -; mRNA.
DR CCDS; CCDS60517.1; -. [Q8N9B8-2]
DR CCDS; CCDS7202.2; -. [Q8N9B8-1]
DR RefSeq; NP_001269791.1; NM_001282862.1. [Q8N9B8-2]
DR RefSeq; NP_660356.2; NM_145313.3. [Q8N9B8-1]
DR AlphaFoldDB; Q8N9B8; -.
DR SMR; Q8N9B8; -.
DR BioGRID; 128673; 9.
DR STRING; 9606.ENSP00000363583; -.
DR iPTMnet; Q8N9B8; -.
DR PhosphoSitePlus; Q8N9B8; -.
DR BioMuta; RASGEF1A; -.
DR DMDM; 156633608; -.
DR jPOST; Q8N9B8; -.
DR MassIVE; Q8N9B8; -.
DR PaxDb; Q8N9B8; -.
DR PeptideAtlas; Q8N9B8; -.
DR PRIDE; Q8N9B8; -.
DR ProteomicsDB; 72520; -. [Q8N9B8-1]
DR ProteomicsDB; 72521; -. [Q8N9B8-2]
DR Antibodypedia; 26875; 85 antibodies from 24 providers.
DR DNASU; 221002; -.
DR Ensembl; ENST00000374459.5; ENSP00000363583.1; ENSG00000198915.12. [Q8N9B8-2]
DR Ensembl; ENST00000395809.5; ENSP00000379154.1; ENSG00000198915.12. [Q8N9B8-1]
DR Ensembl; ENST00000395810.6; ENSP00000379155.1; ENSG00000198915.12. [Q8N9B8-1]
DR GeneID; 221002; -.
DR KEGG; hsa:221002; -.
DR MANE-Select; ENST00000395810.6; ENSP00000379155.1; NM_145313.4; NP_660356.2.
DR UCSC; uc001jao.3; human. [Q8N9B8-1]
DR CTD; 221002; -.
DR DisGeNET; 221002; -.
DR GeneCards; RASGEF1A; -.
DR HGNC; HGNC:24246; RASGEF1A.
DR HPA; ENSG00000198915; Tissue enhanced (bone marrow, brain).
DR MIM; 614531; gene.
DR neXtProt; NX_Q8N9B8; -.
DR OpenTargets; ENSG00000198915; -.
DR PharmGKB; PA134884893; -.
DR VEuPathDB; HostDB:ENSG00000198915; -.
DR eggNOG; KOG3541; Eukaryota.
DR GeneTree; ENSGT00940000160822; -.
DR HOGENOM; CLU_022907_2_0_1; -.
DR InParanoid; Q8N9B8; -.
DR OrthoDB; 533115at2759; -.
DR PhylomeDB; Q8N9B8; -.
DR TreeFam; TF313379; -.
DR PathwayCommons; Q8N9B8; -.
DR Reactome; R-HSA-5673001; RAF/MAP kinase cascade.
DR SignaLink; Q8N9B8; -.
DR SIGNOR; Q8N9B8; -.
DR BioGRID-ORCS; 221002; 11 hits in 1074 CRISPR screens.
DR GenomeRNAi; 221002; -.
DR Pharos; Q8N9B8; Tdark.
DR PRO; PR:Q8N9B8; -.
DR Proteomes; UP000005640; Chromosome 10.
DR RNAct; Q8N9B8; protein.
DR Bgee; ENSG00000198915; Expressed in endothelial cell and 153 other tissues.
DR ExpressionAtlas; Q8N9B8; baseline and differential.
DR Genevisible; Q8N9B8; HS.
DR GO; GO:0005829; C:cytosol; TAS:Reactome.
DR GO; GO:0005886; C:plasma membrane; IBA:GO_Central.
DR GO; GO:0005085; F:guanyl-nucleotide exchange factor activity; IDA:UniProtKB.
DR GO; GO:0016477; P:cell migration; IDA:UniProtKB.
DR GO; GO:0043547; P:positive regulation of GTPase activity; IBA:GO_Central.
DR GO; GO:0046579; P:positive regulation of Ras protein signal transduction; IDA:FlyBase.
DR GO; GO:0007265; P:Ras protein signal transduction; IBA:GO_Central.
DR CDD; cd00155; RasGEF; 1.
DR CDD; cd06224; REM; 1.
DR Gene3D; 1.10.840.10; -; 1.
DR InterPro; IPR008937; Ras-like_GEF.
DR InterPro; IPR000651; Ras-like_Gua-exchang_fac_N.
DR InterPro; IPR023578; Ras_GEF_dom_sf.
DR InterPro; IPR001895; RASGEF_cat_dom.
DR InterPro; IPR036964; RASGEF_cat_dom_sf.
DR PANTHER; PTHR23113; PTHR23113; 1.
DR Pfam; PF00617; RasGEF; 1.
DR Pfam; PF00618; RasGEF_N; 1.
DR SMART; SM00147; RasGEF; 1.
DR SMART; SM00229; RasGEFN; 1.
DR SUPFAM; SSF48366; SSF48366; 1.
DR PROSITE; PS50009; RASGEF_CAT; 1.
DR PROSITE; PS50212; RASGEF_NTER; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; Guanine-nucleotide releasing factor;
KW Reference proteome.
FT CHAIN 1..481
FT /note="Ras-GEF domain-containing family member 1A"
FT /id="PRO_0000297635"
FT DOMAIN 41..170
FT /note="N-terminal Ras-GEF"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00135"
FT DOMAIN 214..461
FT /note="Ras-GEF"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00168"
FT VAR_SEQ 1
FT /note="M -> MFLEPQETM (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_027312"
FT CONFLICT 465
FT /note="M -> V (in Ref. 2; AAH22548)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 481 AA; 54556 MW; CF827AAC588525C0 CRC64;
MPQTSVVFSS ILGPSCSGQV QPGMGERGGG AGGGSGDLIF QDGHLISGSL EALMEHLVPT
VDYYPDRTYI FTFLLSSRVF MPPHDLLARV GQICVEQKQQ LEAGPEKAKL KSFSAKIVQL
LKEWTEAFPY DFQDEKAMAE LKAITHRVTQ CDEENGTVKK AIAQMTQSLL LSLAARSQLQ
ELREKLRPPA VDKGPILKTK PPAAQKDILG VCCDPLVLAQ QLTHIELDRV SSIYPEDLMQ
IVSHMDSLDN HRCRGDLTKT YSLEAYDNWF NCLSMLVATE VCRVVKKKHR TRMLEFFIDV
ARECFNIGNF NSMMAIISGM NLSPVARLKK TWSKVKTAKF DVLEHHMDPS SNFCNYRTAL
QGATQRSQMA NSSREKIVIP VFNLFVKDIY FLHKIHTNHL PNGHINFKKF WEISRQIHEF
MTWTQVECPF EKDKKIQSYL LTAPIYSEEA LFVASFESEG PENHMEKDSW KTLRTTLLNR
A
