RGF1C_HUMAN
ID RGF1C_HUMAN Reviewed; 466 AA.
AC Q8N431; D3DWQ7; Q7Z4T0; Q8NA49;
DT 21-AUG-2007, integrated into UniProtKB/Swiss-Prot.
DT 21-AUG-2007, sequence version 2.
DT 03-AUG-2022, entry version 131.
DE RecName: Full=Ras-GEF domain-containing family member 1C;
GN Name=RASGEF1C;
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 1).
RA Yu L., Guo J., She X.;
RT "Homo sapiens cDNA, similar to Macaca fascicularis brain cDNA.";
RL Submitted (NOV-2001) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Testis;
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].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [4]
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).
CC -!- FUNCTION: Guanine nucleotide exchange factor (GEF). {ECO:0000250}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q8N431-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q8N431-2; Sequence=VSP_027316;
CC -!- SEQUENCE CAUTION:
CC Sequence=AAH36802.1; Type=Erroneous initiation; Evidence={ECO:0000305};
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DR EMBL; AF449764; AAP97676.1; -; mRNA.
DR EMBL; AK093160; BAC04079.1; -; mRNA.
DR EMBL; CH471165; EAW53769.1; -; Genomic_DNA.
DR EMBL; CH471165; EAW53770.1; -; Genomic_DNA.
DR EMBL; BC036802; AAH36802.1; ALT_INIT; mRNA.
DR CCDS; CCDS4452.1; -. [Q8N431-1]
DR RefSeq; NP_778232.2; NM_175062.3. [Q8N431-1]
DR AlphaFoldDB; Q8N431; -.
DR SMR; Q8N431; -.
DR BioGRID; 129103; 8.
DR IntAct; Q8N431; 2.
DR STRING; 9606.ENSP00000377037; -.
DR iPTMnet; Q8N431; -.
DR PhosphoSitePlus; Q8N431; -.
DR BioMuta; RASGEF1C; -.
DR DMDM; 156633613; -.
DR MassIVE; Q8N431; -.
DR PaxDb; Q8N431; -.
DR PeptideAtlas; Q8N431; -.
DR PRIDE; Q8N431; -.
DR ProteomicsDB; 71871; -. [Q8N431-1]
DR Antibodypedia; 29571; 143 antibodies from 25 providers.
DR DNASU; 255426; -.
DR Ensembl; ENST00000361132.9; ENSP00000354963.4; ENSG00000146090.16. [Q8N431-1]
DR Ensembl; ENST00000393371.6; ENSP00000377037.2; ENSG00000146090.16. [Q8N431-1]
DR Ensembl; ENST00000522500.5; ENSP00000429114.1; ENSG00000146090.16. [Q8N431-2]
DR GeneID; 255426; -.
DR KEGG; hsa:255426; -.
DR MANE-Select; ENST00000361132.9; ENSP00000354963.4; NM_175062.4; NP_778232.2.
DR UCSC; uc003mlp.5; human. [Q8N431-1]
DR CTD; 255426; -.
DR DisGeNET; 255426; -.
DR GeneCards; RASGEF1C; -.
DR HGNC; HGNC:27400; RASGEF1C.
DR HPA; ENSG00000146090; Group enriched (brain, testis).
DR neXtProt; NX_Q8N431; -.
DR PharmGKB; PA134895897; -.
DR VEuPathDB; HostDB:ENSG00000146090; -.
DR eggNOG; KOG3541; Eukaryota.
DR GeneTree; ENSGT00940000161005; -.
DR HOGENOM; CLU_022907_2_0_1; -.
DR InParanoid; Q8N431; -.
DR OMA; LDGTKPC; -.
DR OrthoDB; 533115at2759; -.
DR PhylomeDB; Q8N431; -.
DR TreeFam; TF313379; -.
DR PathwayCommons; Q8N431; -.
DR SignaLink; Q8N431; -.
DR SIGNOR; Q8N431; -.
DR BioGRID-ORCS; 255426; 8 hits in 1068 CRISPR screens.
DR ChiTaRS; RASGEF1C; human.
DR GenomeRNAi; 255426; -.
DR Pharos; Q8N431; Tdark.
DR PRO; PR:Q8N431; -.
DR Proteomes; UP000005640; Chromosome 5.
DR RNAct; Q8N431; protein.
DR Bgee; ENSG00000146090; Expressed in right hemisphere of cerebellum and 97 other tissues.
DR ExpressionAtlas; Q8N431; baseline and differential.
DR Genevisible; Q8N431; HS.
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: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 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; IPR019804; Ras_G-nucl-exch_fac_CS.
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 SUPFAM; SSF48366; SSF48366; 1.
DR PROSITE; PS00720; RASGEF; 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..466
FT /note="Ras-GEF domain-containing family member 1C"
FT /id="PRO_0000297643"
FT DOMAIN 34..164
FT /note="N-terminal Ras-GEF"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00135"
FT DOMAIN 200..446
FT /note="Ras-GEF"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00168"
FT REGION 1..37
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1..15
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 1..151
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_027316"
SQ SEQUENCE 466 AA; 52870 MW; DDEFC900F30612B7 CRC64;
MPQTLSASDM VTPGSLSPPP TEPTDGEQAG QPLLDGAPSS ASLETLIQHL VPTADYYPEK
AYIFTFLLSS RLFIEPRELL ARVCHLCIEQ QQLDKPVLDK ARVRKFGPKL LQLLAEWTET
FPRDFQEEST IGHLKDVVGR IAPCDEAYRK RMHQLLQALH QKLAALRQGP EGLVGADKPI
SYRTKPPASI HRELLGVCSD PYTLAQQLTH VELERLRHIG PEEFVQAFVN KDPLASTKPC
FSDKTSNLEA YVKWFNRLCY LVATEICMPA KKKQRAQVIE FFIDVARECF NIGNFNSLMA
IISGMNMSPV SRLKKTWAKV RTAKFFILEH QMDPTGNFCN YRTALRGAAH RSLTAHSSRE
KIVIPFFSLL IKDIYFLNEG CANRLPNGHV NFEKFLELAK QVGEFITWKQ VECPFEQDAS
ITHYLYTAPI FSEDGLYLAS YESESPENQT EKERWKALRS SILGKT
