GIMA1_HUMAN
ID GIMA1_HUMAN Reviewed; 306 AA.
AC Q8WWP7; B2RCI3; Q8NAZ0;
DT 14-NOV-2003, integrated into UniProtKB/Swiss-Prot.
DT 01-MAR-2002, sequence version 1.
DT 03-AUG-2022, entry version 152.
DE RecName: Full=GTPase IMAP family member 1;
DE AltName: Full=Immunity-associated protein 1;
DE Short=hIMAP1;
GN Name=GIMAP1; Synonyms=IMAP1;
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], SUBCELLULAR LOCATION, AND TISSUE SPECIFICITY.
RC TISSUE=Spleen;
RX PubMed=11814688; DOI=10.1016/s0378-1119(01)00837-x;
RA Stamm O., Kruecken J., Schmitt-Wrede H.-P., Benten W.P.M., Wunderlich F.;
RT "Human ortholog to mouse gene imap38 encoding an ER-localizable G-protein
RT belongs to a gene family clustered on chromosome 7q32-36.";
RL Gene 282:159-167(2002).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Lung, and Thalamus;
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].
RC TISSUE=Blood;
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 TISSUE SPECIFICITY.
RX PubMed=23454188; DOI=10.1016/j.str.2013.01.014;
RA Schwefel D., Arasu B.S., Marino S.F., Lamprecht B., Kochert K.,
RA Rosenbaum E., Eichhorst J., Wiesner B., Behlke J., Rocks O., Mathas S.,
RA Daumke O.;
RT "Structural insights into the mechanism of GTPase activation in the GIMAP
RT family.";
RL Structure 21:550-559(2013).
RN [6]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=25944712; DOI=10.1002/pmic.201400617;
RA Vaca Jacome A.S., Rabilloud T., Schaeffer-Reiss C., Rompais M., Ayoub D.,
RA Lane L., Bairoch A., Van Dorsselaer A., Carapito C.;
RT "N-terminome analysis of the human mitochondrial proteome.";
RL Proteomics 15:2519-2524(2015).
RN [7]
RP X-RAY CRYSTALLOGRAPHY (2.21 ANGSTROMS) OF 25-253 IN COMPLEX WITH GDP.
RG Structural genomics consortium (SGC);
RT "Crystal structure of human GTPase IMAP family member 1.";
RL Submitted (MAR-2010) to the PDB data bank.
RN [8]
RP VARIANT [LARGE SCALE ANALYSIS] GLU-166.
RX PubMed=16959974; DOI=10.1126/science.1133427;
RA Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D.,
RA Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P.,
RA Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V.,
RA Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H.,
RA Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W.,
RA Velculescu V.E.;
RT "The consensus coding sequences of human breast and colorectal cancers.";
RL Science 314:268-274(2006).
CC -!- FUNCTION: May regulate lymphocyte survival. Required for normal levels
CC of mature T-lymphocytes and mature B-cells (By similarity).
CC {ECO:0000250}.
CC -!- INTERACTION:
CC Q8WWP7; Q13520: AQP6; NbExp=3; IntAct=EBI-11991950, EBI-13059134;
CC Q8WWP7; Q3SXY8: ARL13B; NbExp=3; IntAct=EBI-11991950, EBI-11343438;
CC Q8WWP7; Q13323: BIK; NbExp=3; IntAct=EBI-11991950, EBI-700794;
CC Q8WWP7; P62952: BLCAP; NbExp=3; IntAct=EBI-11991950, EBI-3895726;
CC Q8WWP7; P11912: CD79A; NbExp=3; IntAct=EBI-11991950, EBI-7797864;
CC Q8WWP7; Q8IUN9: CLEC10A; NbExp=4; IntAct=EBI-11991950, EBI-2873246;
CC Q8WWP7; Q7Z7G2: CPLX4; NbExp=3; IntAct=EBI-11991950, EBI-18013275;
CC Q8WWP7; Q96BA8: CREB3L1; NbExp=3; IntAct=EBI-11991950, EBI-6942903;
CC Q8WWP7; Q15125: EBP; NbExp=3; IntAct=EBI-11991950, EBI-3915253;
CC Q8WWP7; Q9GZR5: ELOVL4; NbExp=3; IntAct=EBI-11991950, EBI-18535450;
CC Q8WWP7; Q9Y282: ERGIC3; NbExp=3; IntAct=EBI-11991950, EBI-781551;
CC Q8WWP7; P60508: ERVFRD-1; NbExp=3; IntAct=EBI-11991950, EBI-17973325;
CC Q8WWP7; Q8TBP5: FAM174A; NbExp=3; IntAct=EBI-11991950, EBI-18636064;
CC Q8WWP7; Q5JX71: FAM209A; NbExp=3; IntAct=EBI-11991950, EBI-18304435;
CC Q8WWP7; P12318-2: FCGR2A; NbExp=3; IntAct=EBI-11991950, EBI-17187481;
CC Q8WWP7; P48165: GJA8; NbExp=3; IntAct=EBI-11991950, EBI-17458373;
CC Q8WWP7; Q8NBQ5: HSD17B11; NbExp=3; IntAct=EBI-11991950, EBI-1052304;
CC Q8WWP7; P26951: IL3RA; NbExp=3; IntAct=EBI-11991950, EBI-1757512;
CC Q8WWP7; Q8N5M9: JAGN1; NbExp=3; IntAct=EBI-11991950, EBI-10266796;
CC Q8WWP7; P13473-2: LAMP2; NbExp=3; IntAct=EBI-11991950, EBI-21591415;
CC Q8WWP7; Q5SR56: MFSD14B; NbExp=3; IntAct=EBI-11991950, EBI-373355;
CC Q8WWP7; O14880: MGST3; NbExp=3; IntAct=EBI-11991950, EBI-724754;
CC Q8WWP7; O14684: PTGES; NbExp=3; IntAct=EBI-11991950, EBI-11161398;
CC Q8WWP7; Q9H6H4: REEP4; NbExp=3; IntAct=EBI-11991950, EBI-7545592;
CC Q8WWP7; Q96TC7: RMDN3; NbExp=3; IntAct=EBI-11991950, EBI-1056589;
CC Q8WWP7; Q9NR31: SAR1A; NbExp=3; IntAct=EBI-11991950, EBI-3920694;
CC Q8WWP7; Q9NY72: SCN3B; NbExp=3; IntAct=EBI-11991950, EBI-17247926;
CC Q8WWP7; Q9Y371: SH3GLB1; NbExp=3; IntAct=EBI-11991950, EBI-2623095;
CC Q8WWP7; Q3KNW5: SLC10A6; NbExp=3; IntAct=EBI-11991950, EBI-18159983;
CC Q8WWP7; Q13336-2: SLC14A1; NbExp=3; IntAct=EBI-11991950, EBI-19141793;
CC Q8WWP7; P54219-3: SLC18A1; NbExp=3; IntAct=EBI-11991950, EBI-17595455;
CC Q8WWP7; P27105: STOM; NbExp=3; IntAct=EBI-11991950, EBI-1211440;
CC Q8WWP7; Q16623: STX1A; NbExp=3; IntAct=EBI-11991950, EBI-712466;
CC Q8WWP7; Q8WY91: THAP4; NbExp=3; IntAct=EBI-11991950, EBI-726691;
CC Q8WWP7; Q96DZ7: TM4SF19; NbExp=3; IntAct=EBI-11991950, EBI-6448756;
CC Q8WWP7; Q96IK0: TMEM101; NbExp=3; IntAct=EBI-11991950, EBI-3922699;
CC Q8WWP7; Q9NUH8: TMEM14B; NbExp=3; IntAct=EBI-11991950, EBI-8638294;
CC Q8WWP7; Q53FP2: TMEM35A; NbExp=3; IntAct=EBI-11991950, EBI-11722971;
CC Q8WWP7; Q96B21: TMEM45B; NbExp=3; IntAct=EBI-11991950, EBI-3923061;
CC Q8WWP7; Q9BSE2: TMEM79; NbExp=3; IntAct=EBI-11991950, EBI-8649725;
CC Q8WWP7; Q9H3N1: TMX1; NbExp=3; IntAct=EBI-11991950, EBI-1051115;
CC Q8WWP7; Q9Y320: TMX2; NbExp=3; IntAct=EBI-11991950, EBI-6447886;
CC Q8WWP7; Q96MV8: ZDHHC15; NbExp=3; IntAct=EBI-11991950, EBI-12837904;
CC Q8WWP7; Q5T4F4: ZFYVE27; NbExp=3; IntAct=EBI-11991950, EBI-3892947;
CC -!- SUBCELLULAR LOCATION: Endoplasmic reticulum membrane
CC {ECO:0000250|UniProtKB:P70224}; Single-pass type IV membrane protein
CC {ECO:0000305}. Golgi apparatus membrane {ECO:0000250|UniProtKB:P70224};
CC Single-pass type IV membrane protein {ECO:0000305}.
CC -!- TISSUE SPECIFICITY: Predominantly expressed in the spleen and to a
CC lesser extent in the lymph nodes. Detected in T-cells.
CC {ECO:0000269|PubMed:11814688, ECO:0000269|PubMed:23454188}.
CC -!- SIMILARITY: Belongs to the TRAFAC class TrmE-Era-EngA-EngB-Septin-like
CC GTPase superfamily. AIG1/Toc34/Toc159-like paraseptin GTPase family.
CC IAN subfamily. {ECO:0000305}.
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DR EMBL; AJ306287; CAC83740.1; -; mRNA.
DR EMBL; AK091818; BAC03754.1; -; mRNA.
DR EMBL; AK315127; BAG37580.1; -; mRNA.
DR EMBL; CH471173; EAW54095.1; -; Genomic_DNA.
DR EMBL; BC040736; AAH40736.1; -; mRNA.
DR CCDS; CCDS5906.1; -.
DR RefSeq; NP_570115.1; NM_130759.3.
DR PDB; 3V70; X-ray; 2.21 A; A/B=25-253.
DR PDBsum; 3V70; -.
DR AlphaFoldDB; Q8WWP7; -.
DR SMR; Q8WWP7; -.
DR BioGRID; 128063; 53.
DR IntAct; Q8WWP7; 47.
DR STRING; 9606.ENSP00000302833; -.
DR iPTMnet; Q8WWP7; -.
DR MetOSite; Q8WWP7; -.
DR PhosphoSitePlus; Q8WWP7; -.
DR BioMuta; GIMAP1; -.
DR DMDM; 38372377; -.
DR EPD; Q8WWP7; -.
DR jPOST; Q8WWP7; -.
DR MassIVE; Q8WWP7; -.
DR PaxDb; Q8WWP7; -.
DR PeptideAtlas; Q8WWP7; -.
DR PRIDE; Q8WWP7; -.
DR ProteomicsDB; 74918; -.
DR Antibodypedia; 32894; 59 antibodies from 15 providers.
DR DNASU; 170575; -.
DR Ensembl; ENST00000307194.6; ENSP00000302833.5; ENSG00000213203.3.
DR GeneID; 170575; -.
DR KEGG; hsa:170575; -.
DR MANE-Select; ENST00000307194.6; ENSP00000302833.5; NM_130759.4; NP_570115.1.
DR UCSC; uc003whq.4; human.
DR CTD; 170575; -.
DR DisGeNET; 170575; -.
DR GeneCards; GIMAP1; -.
DR HGNC; HGNC:23237; GIMAP1.
DR HPA; ENSG00000213203; Tissue enhanced (lymphoid).
DR MIM; 608084; gene.
DR neXtProt; NX_Q8WWP7; -.
DR OpenTargets; ENSG00000213203; -.
DR PharmGKB; PA134978698; -.
DR VEuPathDB; HostDB:ENSG00000213203; -.
DR eggNOG; ENOG502SN36; Eukaryota.
DR GeneTree; ENSGT00940000161272; -.
DR HOGENOM; CLU_010468_1_2_1; -.
DR InParanoid; Q8WWP7; -.
DR OMA; HDYVSNT; -.
DR PhylomeDB; Q8WWP7; -.
DR TreeFam; TF330845; -.
DR PathwayCommons; Q8WWP7; -.
DR SignaLink; Q8WWP7; -.
DR BioGRID-ORCS; 170575; 7 hits in 1066 CRISPR screens.
DR EvolutionaryTrace; Q8WWP7; -.
DR GenomeRNAi; 170575; -.
DR Pharos; Q8WWP7; Tbio.
DR PRO; PR:Q8WWP7; -.
DR Proteomes; UP000005640; Chromosome 7.
DR RNAct; Q8WWP7; protein.
DR Bgee; ENSG00000213203; Expressed in granulocyte and 174 other tissues.
DR ExpressionAtlas; Q8WWP7; baseline and differential.
DR Genevisible; Q8WWP7; HS.
DR GO; GO:0005783; C:endoplasmic reticulum; IDA:HPA.
DR GO; GO:0005789; C:endoplasmic reticulum membrane; IEA:UniProtKB-SubCell.
DR GO; GO:0000139; C:Golgi membrane; IEA:UniProtKB-SubCell.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0005525; F:GTP binding; IEA:UniProtKB-KW.
DR Gene3D; 3.40.50.300; -; 1.
DR InterPro; IPR006703; G_AIG1.
DR InterPro; IPR045058; GIMA/IAN/Toc.
DR InterPro; IPR027417; P-loop_NTPase.
DR PANTHER; PTHR10903; PTHR10903; 1.
DR Pfam; PF04548; AIG1; 1.
DR SUPFAM; SSF52540; SSF52540; 1.
DR PROSITE; PS51720; G_AIG1; 1.
PE 1: Evidence at protein level;
KW 3D-structure; Endoplasmic reticulum; Golgi apparatus; GTP-binding;
KW Membrane; Nucleotide-binding; Reference proteome; Transmembrane;
KW Transmembrane helix.
FT CHAIN 1..306
FT /note="GTPase IMAP family member 1"
FT /id="PRO_0000190984"
FT TOPO_DOM 1..272
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT TRANSMEM 273..292
FT /note="Helical; Anchor for type IV membrane protein"
FT /evidence="ECO:0000255"
FT TOPO_DOM 293..306
FT /note="Lumenal"
FT /evidence="ECO:0000255"
FT DOMAIN 25..229
FT /note="AIG1-type G"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01057"
FT REGION 1..21
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 34..41
FT /note="G1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01057"
FT REGION 61..65
FT /note="G2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01057"
FT REGION 82..85
FT /note="G3"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01057"
FT REGION 152..155
FT /note="G4"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01057"
FT REGION 189..191
FT /note="G5"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01057"
FT BINDING 34..42
FT /ligand="GTP"
FT /ligand_id="ChEBI:CHEBI:37565"
FT /evidence="ECO:0000269|Ref.7, ECO:0007744|PDB:3V70"
FT BINDING 55
FT /ligand="GTP"
FT /ligand_id="ChEBI:CHEBI:37565"
FT /evidence="ECO:0000250|UniProtKB:Q9UG22"
FT BINDING 153..155
FT /ligand="GTP"
FT /ligand_id="ChEBI:CHEBI:37565"
FT /evidence="ECO:0000269|Ref.7, ECO:0007744|PDB:3V70"
FT BINDING 190
FT /ligand="GTP"
FT /ligand_id="ChEBI:CHEBI:37565"
FT /evidence="ECO:0000269|Ref.7, ECO:0007744|PDB:3V70"
FT VARIANT 166
FT /note="V -> E (in a breast cancer sample; somatic
FT mutation)"
FT /evidence="ECO:0000269|PubMed:16959974"
FT /id="VAR_036301"
FT VARIANT 254
FT /note="R -> S (in dbSNP:rs7811263)"
FT /id="VAR_049530"
FT CONFLICT 235
FT /note="G -> V (in Ref. 2; BAC03754)"
FT /evidence="ECO:0000305"
FT STRAND 27..34
FT /evidence="ECO:0007829|PDB:3V70"
FT HELIX 40..48
FT /evidence="ECO:0007829|PDB:3V70"
FT STRAND 67..73
FT /evidence="ECO:0007829|PDB:3V70"
FT STRAND 76..82
FT /evidence="ECO:0007829|PDB:3V70"
FT HELIX 91..94
FT /evidence="ECO:0007829|PDB:3V70"
FT HELIX 99..108
FT /evidence="ECO:0007829|PDB:3V70"
FT STRAND 113..120
FT /evidence="ECO:0007829|PDB:3V70"
FT HELIX 126..139
FT /evidence="ECO:0007829|PDB:3V70"
FT HELIX 141..146
FT /evidence="ECO:0007829|PDB:3V70"
FT STRAND 147..152
FT /evidence="ECO:0007829|PDB:3V70"
FT HELIX 154..157
FT /evidence="ECO:0007829|PDB:3V70"
FT HELIX 162..168
FT /evidence="ECO:0007829|PDB:3V70"
FT HELIX 172..180
FT /evidence="ECO:0007829|PDB:3V70"
FT TURN 181..183
FT /evidence="ECO:0007829|PDB:3V70"
FT STRAND 185..187
FT /evidence="ECO:0007829|PDB:3V70"
FT HELIX 194..214
FT /evidence="ECO:0007829|PDB:3V70"
FT TURN 215..217
FT /evidence="ECO:0007829|PDB:3V70"
FT HELIX 223..230
FT /evidence="ECO:0007829|PDB:3V70"
FT HELIX 231..233
FT /evidence="ECO:0007829|PDB:3V70"
FT HELIX 236..250
FT /evidence="ECO:0007829|PDB:3V70"
SQ SEQUENCE 306 AA; 34369 MW; 7C1F620658B95960 CRC64;
MGGRKMATDE ENVYGLEENA QSRQESTRRL ILVGRTGAGK SATGNSILGQ RRFFSRLGAT
SVTRACTTGS RRWDKCHVEV VDTPDIFSSQ VSKTDPGCEE RGHCYLLSAP GPHALLLVTQ
LGRFTAQDQQ AVRQVRDMFG EDVLKWMVIV FTRKEDLAGG SLHDYVSNTE NRALRELVAE
CGGRVCAFDN RATGREQEAQ VEQLLGMVEG LVLEHKGAHY SNEVYELAQV LRWAGPEERL
RRVAERVAAR VQRRPWGAWL SARLWKWLKS PRSWRLGLAL LLGGALLFWV LLHRRWSEAV
AEVGPD
