REM1_HUMAN
ID REM1_HUMAN Reviewed; 298 AA.
AC O75628; E1P5L1; Q5TZR7; Q5TZR8; Q9NP57;
DT 07-NOV-2003, integrated into UniProtKB/Swiss-Prot.
DT 07-NOV-2003, sequence version 2.
DT 03-AUG-2022, entry version 175.
DE RecName: Full=GTP-binding protein REM 1;
DE AltName: Full=GTPase-regulating endothelial cell sprouting;
DE AltName: Full=Rad and Gem-like GTP-binding protein 1;
GN Name=REM1; Synonyms=GES, REM;
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].
RA Finlin B.S., Andres D.A.;
RT "Cloning of the human Rem gene.";
RL Submitted (AUG-1998) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA], AND MUTAGENESIS OF THR-94.
RC TISSUE=Lymph node;
RX PubMed=10831614; DOI=10.1083/jcb.149.5.1107;
RA Pan J.Y., Fieles W.E., White A.M., Egerton M.M., Silberstein D.S.;
RT "Ges, a human GTPase of the Rad/Gem/Kir family, promotes endothelial cell
RT sprouting and cytoskeleton reorganization.";
RL J. Cell Biol. 149:1107-1116(2000).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANT ARG-28.
RA Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S.,
RA Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y.,
RA Phelan M., Farmer A.;
RT "Cloning of human full-length CDSs in BD Creator(TM) system donor vector.";
RL Submitted (OCT-2004) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANT ARG-28.
RC TISSUE=Caudate nucleus;
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 [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=11780052; DOI=10.1038/414865a;
RA Deloukas P., Matthews L.H., Ashurst J.L., Burton J., Gilbert J.G.R.,
RA Jones M., Stavrides G., Almeida J.P., Babbage A.K., Bagguley C.L.,
RA Bailey J., Barlow K.F., Bates K.N., Beard L.M., Beare D.M., Beasley O.P.,
RA Bird C.P., Blakey S.E., Bridgeman A.M., Brown A.J., Buck D., Burrill W.D.,
RA Butler A.P., Carder C., Carter N.P., Chapman J.C., Clamp M., Clark G.,
RA Clark L.N., Clark S.Y., Clee C.M., Clegg S., Cobley V.E., Collier R.E.,
RA Connor R.E., Corby N.R., Coulson A., Coville G.J., Deadman R., Dhami P.D.,
RA Dunn M., Ellington A.G., Frankland J.A., Fraser A., French L., Garner P.,
RA Grafham D.V., Griffiths C., Griffiths M.N.D., Gwilliam R., Hall R.E.,
RA Hammond S., Harley J.L., Heath P.D., Ho S., Holden J.L., Howden P.J.,
RA Huckle E., Hunt A.R., Hunt S.E., Jekosch K., Johnson C.M., Johnson D.,
RA Kay M.P., Kimberley A.M., King A., Knights A., Laird G.K., Lawlor S.,
RA Lehvaeslaiho M.H., Leversha M.A., Lloyd C., Lloyd D.M., Lovell J.D.,
RA Marsh V.L., Martin S.L., McConnachie L.J., McLay K., McMurray A.A.,
RA Milne S.A., Mistry D., Moore M.J.F., Mullikin J.C., Nickerson T.,
RA Oliver K., Parker A., Patel R., Pearce T.A.V., Peck A.I.,
RA Phillimore B.J.C.T., Prathalingam S.R., Plumb R.W., Ramsay H., Rice C.M.,
RA Ross M.T., Scott C.E., Sehra H.K., Shownkeen R., Sims S., Skuce C.D.,
RA Smith M.L., Soderlund C., Steward C.A., Sulston J.E., Swann R.M.,
RA Sycamore N., Taylor R., Tee L., Thomas D.W., Thorpe A., Tracey A.,
RA Tromans A.C., Vaudin M., Wall M., Wallis J.M., Whitehead S.L.,
RA Whittaker P., Willey D.L., Williams L., Williams S.A., Wilming L.,
RA Wray P.W., Hubbard T., Durbin R.M., Bentley D.R., Beck S., Rogers J.;
RT "The DNA sequence and comparative analysis of human chromosome 20.";
RL Nature 414:865-871(2001).
RN [6]
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 [7]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
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: Promotes endothelial cell sprouting and actin cytoskeletal
CC reorganization. May be involved in angiogenesis. May function in Ca(2+)
CC signaling.
CC -!- SUBUNIT: In vitro, interacts with calmodulin in a calcium-dependent
CC manner.
CC -!- TISSUE SPECIFICITY: Most highly expressed in the endothelial lining of
CC the blood vessels in uterus and heart. Lower levels found in spleen,
CC lymph node, kidney and testis. Also found in cells with secretory
CC function such as the islets of Langerhans, lobule/duct epithelium in
CC the breast, bile duct epithelium in the liver, surface epithelium in
CC the endometrial glands of the uterus, colon mucosa and acinar cells in
CC the pancreas and the prostate.
CC -!- SIMILARITY: Belongs to the small GTPase superfamily. RGK family.
CC {ECO:0000305}.
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DR EMBL; AF084465; AAC33132.1; -; mRNA.
DR EMBL; AF152863; AAF74212.1; -; mRNA.
DR EMBL; BT020078; AAV38881.1; -; mRNA.
DR EMBL; BT020079; AAV38882.1; -; mRNA.
DR EMBL; AK313060; BAG35890.1; -; mRNA.
DR EMBL; AL121751; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471077; EAW76439.1; -; Genomic_DNA.
DR EMBL; CH471077; EAW76440.1; -; Genomic_DNA.
DR EMBL; CH471077; EAW76442.1; -; Genomic_DNA.
DR EMBL; BC039813; AAH39813.1; -; mRNA.
DR CCDS; CCDS13181.1; -.
DR RefSeq; NP_054731.2; NM_014012.5.
DR PDB; 2NZJ; X-ray; 2.50 A; A/B/C/D=79-251.
DR PDBsum; 2NZJ; -.
DR AlphaFoldDB; O75628; -.
DR SMR; O75628; -.
DR BioGRID; 118781; 7.
DR STRING; 9606.ENSP00000201979; -.
DR iPTMnet; O75628; -.
DR PhosphoSitePlus; O75628; -.
DR BioMuta; REM1; -.
DR jPOST; O75628; -.
DR MassIVE; O75628; -.
DR PaxDb; O75628; -.
DR PeptideAtlas; O75628; -.
DR PRIDE; O75628; -.
DR ProteomicsDB; 50127; -.
DR Antibodypedia; 10156; 108 antibodies from 27 providers.
DR DNASU; 28954; -.
DR Ensembl; ENST00000201979.3; ENSP00000201979.2; ENSG00000088320.4.
DR GeneID; 28954; -.
DR KEGG; hsa:28954; -.
DR MANE-Select; ENST00000201979.3; ENSP00000201979.2; NM_014012.6; NP_054731.2.
DR UCSC; uc002wwa.5; human.
DR CTD; 28954; -.
DR DisGeNET; 28954; -.
DR GeneCards; REM1; -.
DR HGNC; HGNC:15922; REM1.
DR HPA; ENSG00000088320; Tissue enhanced (cervix).
DR MIM; 610388; gene.
DR neXtProt; NX_O75628; -.
DR OpenTargets; ENSG00000088320; -.
DR PharmGKB; PA34324; -.
DR VEuPathDB; HostDB:ENSG00000088320; -.
DR eggNOG; KOG0395; Eukaryota.
DR GeneTree; ENSGT00940000160613; -.
DR HOGENOM; CLU_041217_3_2_1; -.
DR InParanoid; O75628; -.
DR OMA; NWSQESC; -.
DR OrthoDB; 679855at2759; -.
DR PhylomeDB; O75628; -.
DR TreeFam; TF314379; -.
DR PathwayCommons; O75628; -.
DR SignaLink; O75628; -.
DR BioGRID-ORCS; 28954; 20 hits in 1068 CRISPR screens.
DR EvolutionaryTrace; O75628; -.
DR GenomeRNAi; 28954; -.
DR Pharos; O75628; Tbio.
DR PRO; PR:O75628; -.
DR Proteomes; UP000005640; Chromosome 20.
DR RNAct; O75628; protein.
DR Bgee; ENSG00000088320; Expressed in endocervix and 152 other tissues.
DR Genevisible; O75628; HS.
DR GO; GO:0005886; C:plasma membrane; IBA:GO_Central.
DR GO; GO:0005246; F:calcium channel regulator activity; IBA:GO_Central.
DR GO; GO:0005516; F:calmodulin binding; IEA:UniProtKB-KW.
DR GO; GO:0005525; F:GTP binding; IBA:GO_Central.
DR GO; GO:0003924; F:GTPase activity; IEA:InterPro.
DR GO; GO:1901842; P:negative regulation of high voltage-gated calcium channel activity; IEA:InterPro.
DR Gene3D; 3.40.50.300; -; 1.
DR InterPro; IPR027417; P-loop_NTPase.
DR InterPro; IPR017358; RGK.
DR InterPro; IPR005225; Small_GTP-bd_dom.
DR InterPro; IPR001806; Small_GTPase.
DR Pfam; PF00071; Ras; 1.
DR PIRSF; PIRSF038017; GTP-binding_GEM; 1.
DR SMART; SM00174; RHO; 1.
DR SUPFAM; SSF52540; SSF52540; 1.
DR TIGRFAMs; TIGR00231; small_GTP; 1.
DR PROSITE; PS51421; RAS; 1.
PE 1: Evidence at protein level;
KW 3D-structure; Calmodulin-binding; GTP-binding; Nucleotide-binding;
KW Phosphoprotein; Reference proteome.
FT CHAIN 1..298
FT /note="GTP-binding protein REM 1"
FT /id="PRO_0000122481"
FT REGION 1..73
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 268..287
FT /note="Calmodulin-binding"
FT /evidence="ECO:0000250"
FT COMPBIAS 31..55
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT BINDING 87..94
FT /ligand="GTP"
FT /ligand_id="ChEBI:CHEBI:37565"
FT /evidence="ECO:0000250"
FT BINDING 195..198
FT /ligand="GTP"
FT /ligand_id="ChEBI:CHEBI:37565"
FT /evidence="ECO:0000250"
FT MOD_RES 51
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:O35929"
FT VARIANT 28
FT /note="H -> R (in dbSNP:rs1006459)"
FT /evidence="ECO:0000269|PubMed:14702039, ECO:0000269|Ref.3"
FT /id="VAR_049498"
FT VARIANT 45
FT /note="R -> W (in dbSNP:rs59730832)"
FT /id="VAR_061232"
FT VARIANT 59
FT /note="P -> A (in dbSNP:rs2233829)"
FT /id="VAR_049499"
FT MUTAGEN 94
FT /note="T->N: No endothelial cell sprouting."
FT /evidence="ECO:0000269|PubMed:10831614"
FT CONFLICT 209
FT /note="E -> V (in Ref. 1; AAC33132)"
FT /evidence="ECO:0000305"
FT STRAND 80..86
FT /evidence="ECO:0007829|PDB:2NZJ"
FT HELIX 93..101
FT /evidence="ECO:0007829|PDB:2NZJ"
FT STRAND 112..123
FT /evidence="ECO:0007829|PDB:2NZJ"
FT STRAND 126..133
FT /evidence="ECO:0007829|PDB:2NZJ"
FT HELIX 145..149
FT /evidence="ECO:0007829|PDB:2NZJ"
FT TURN 150..152
FT /evidence="ECO:0007829|PDB:2NZJ"
FT STRAND 155..162
FT /evidence="ECO:0007829|PDB:2NZJ"
FT HELIX 166..181
FT /evidence="ECO:0007829|PDB:2NZJ"
FT STRAND 190..195
FT /evidence="ECO:0007829|PDB:2NZJ"
FT TURN 200..202
FT /evidence="ECO:0007829|PDB:2NZJ"
FT HELIX 207..217
FT /evidence="ECO:0007829|PDB:2NZJ"
FT STRAND 219..223
FT /evidence="ECO:0007829|PDB:2NZJ"
FT TURN 226..229
FT /evidence="ECO:0007829|PDB:2NZJ"
FT HELIX 232..247
FT /evidence="ECO:0007829|PDB:2NZJ"
SQ SEQUENCE 298 AA; 32947 MW; E7CCE776FFD42CD7 CRC64;
MTLNTEQEAK TPLHRRASTP LPLSPRGHQP GRLSTVPSTQ SQHPRLGQSA SLNPPTQKPS
PAPDDWSSES SDSEGSWEAL YRVVLLGDPG VGKTSLASLF AGKQERDLHE QLGEDVYERT
LTVDGEDTTL VVVDTWEAEK LDKSWSQESC LQGGSAYVIV YSIADRGSFE SASELRIQLR
RTHQADHVPI ILVGNKADLA RCREVSVEEG RACAVVFDCK FIETSATLQH NVAELFEGVV
RQLRLRRRDS AAKEPPAPRR PASLAQRARR FLARLTARSA RRRALKARSK SCHNLAVL