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GIMA6_HUMAN
ID   GIMA6_HUMAN             Reviewed;         292 AA.
AC   Q6P9H5; C9J7B6; D3DWZ4; Q5ZPR6; Q9H612;
DT   20-MAY-2008, integrated into UniProtKB/Swiss-Prot.
DT   05-JUL-2004, sequence version 1.
DT   03-AUG-2022, entry version 135.
DE   RecName: Full=GTPase IMAP family member 6;
DE   AltName: Full=Immunity-associated nucleotide 2 protein;
DE            Short=IAN-2;
DE            Short=hIAN2;
DE   AltName: Full=Immunity-associated nucleotide 6 protein;
DE            Short=IAN-6;
DE            Short=hIAN6;
GN   Name=GIMAP6; Synonyms=IAN2, IAN6;
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), AND TISSUE SPECIFICITY.
RX   PubMed=15474311; DOI=10.1016/j.gene.2004.07.005;
RA   Kruecken J., Schroetel R.M.U., Mueller I.U., Saiedani N., Marinovski P.,
RA   Benten W.P.M., Stamm O., Wunderlich F.;
RT   "Comparative analysis of the human gimap gene cluster encoding a novel
RT   GTPase family.";
RL   Gene 341:291-304(2004).
RN   [2]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), AND VARIANT SER-171.
RC   TISSUE=Small intestine;
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 MRNA] (ISOFORM 1).
RC   TISSUE=Uterine endothelium;
RX   PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA   Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA   Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D.,
RA   Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A.,
RA   Wiemann S., Schupp I.;
RT   "The full-ORF clone resource of the German cDNA consortium.";
RL   BMC Genomics 8:399-399(2007).
RN   [4]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX   PubMed=12853948; DOI=10.1038/nature01782;
RA   Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H.,
RA   Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R., Wylie K.,
RA   Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E., Fewell G.A.,
RA   Delehaunty K.D., Miner T.L., Nash W.E., Cordes M., Du H., Sun H.,
RA   Edwards J., Bradshaw-Cordum H., Ali J., Andrews S., Isak A., Vanbrunt A.,
RA   Nguyen C., Du F., Lamar B., Courtney L., Kalicki J., Ozersky P.,
RA   Bielicki L., Scott K., Holmes A., Harkins R., Harris A., Strong C.M.,
RA   Hou S., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Leonard S.,
RA   Rohlfing T., Rock S.M., Tin-Wollam A.-M., Abbott A., Minx P., Maupin R.,
RA   Strowmatt C., Latreille P., Miller N., Johnson D., Murray J.,
RA   Woessner J.P., Wendl M.C., Yang S.-P., Schultz B.R., Wallis J.W.,
RA   Spieth J., Bieri T.A., Nelson J.O., Berkowicz N., Wohldmann P.E.,
RA   Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Bedell J.A.,
RA   Mardis E.R., Clifton S.W., Chissoe S.L., Marra M.A., Raymond C., Haugen E.,
RA   Gillett W., Zhou Y., James R., Phelps K., Iadanoto S., Bubb K., Simms E.,
RA   Levy R., Clendenning J., Kaul R., Kent W.J., Furey T.S., Baertsch R.A.,
RA   Brent M.R., Keibler E., Flicek P., Bork P., Suyama M., Bailey J.A.,
RA   Portnoy M.E., Torrents D., Chinwalla A.T., Gish W.R., Eddy S.R.,
RA   McPherson J.D., Olson M.V., Eichler E.E., Green E.D., Waterston R.H.,
RA   Wilson R.K.;
RT   "The DNA sequence of human chromosome 7.";
RL   Nature 424:157-164(2003).
RN   [5]
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   [6]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 3).
RC   TISSUE=Placenta;
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   [7]
RP   IDENTIFICATION.
RX   PubMed=11964296; DOI=10.1182/blood.v99.9.3293;
RA   Cambot M., Aresta S., Kahn-Perles B., de Gunzburg J., Romeo P.-H.;
RT   "Human immune associated nucleotide 1: a member of a new guanosine
RT   triphosphatase family expressed in resting T and B cells.";
RL   Blood 99:3293-3301(2002).
RN   [8]
RP   IDENTIFICATION.
RX   PubMed=12097339; DOI=10.1101/gr.412702;
RA   MacMurray A.J., Moralejo D.H., Kwitek A.E., Rutledge E.A., Van Yserloo B.,
RA   Gohlke P., Speros S.J., Snyder B., Schaefer J., Bieg S., Jiang J.,
RA   Ettinger R.A., Fuller J., Daniels T.L., Pettersson A., Orlebeke K.,
RA   Birren B., Jacob H.J., Lander E.S., Lernmark A.;
RT   "Lymphopenia in the BB rat model of type 1 diabetes is due to a mutation in
RT   a novel immune-associated nucleotide (Ian)-related gene.";
RL   Genome Res. 12:1029-1039(2002).
RN   [9]
RP   SUBCELLULAR LOCATION, AND 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).
CC   -!- SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000269|PubMed:23454188}.
CC   -!- ALTERNATIVE PRODUCTS:
CC       Event=Alternative splicing; Named isoforms=3;
CC       Name=1;
CC         IsoId=Q6P9H5-1; Sequence=Displayed;
CC       Name=2;
CC         IsoId=Q6P9H5-2; Sequence=VSP_033436;
CC       Name=3;
CC         IsoId=Q6P9H5-3; Sequence=VSP_045595, VSP_045596;
CC   -!- TISSUE SPECIFICITY: Highly expressed in spleen, lymph nodes, lung and
CC       placenta. Expressed at moderate level in thymus, kidney, heart and
CC       digestive tract. Weakly expressed in other lymphoid tissues. Detected
CC       in T-cells. {ECO:0000269|PubMed:15474311, 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; AJ580952; CAE45757.1; -; mRNA.
DR   EMBL; AK026343; BAB15455.1; -; mRNA.
DR   EMBL; CR749355; CAH18208.1; -; mRNA.
DR   EMBL; AC069304; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; CH471173; EAW54100.1; -; Genomic_DNA.
DR   EMBL; CH471173; EAW54101.1; -; Genomic_DNA.
DR   EMBL; BC060760; AAH60760.1; -; mRNA.
DR   EMBL; BC074744; AAH74744.1; -; mRNA.
DR   EMBL; CD559670; -; NOT_ANNOTATED_CDS; mRNA.
DR   CCDS; CCDS34778.1; -. [Q6P9H5-1]
DR   CCDS; CCDS59087.1; -. [Q6P9H5-3]
DR   RefSeq; NP_001231000.1; NM_001244071.1. [Q6P9H5-3]
DR   RefSeq; NP_001231001.1; NM_001244072.1.
DR   RefSeq; NP_078987.3; NM_024711.5. [Q6P9H5-1]
DR   AlphaFoldDB; Q6P9H5; -.
DR   SMR; Q6P9H5; -.
DR   BioGRID; 138878; 6.
DR   IntAct; Q6P9H5; 1.
DR   iPTMnet; Q6P9H5; -.
DR   PhosphoSitePlus; Q6P9H5; -.
DR   BioMuta; GIMAP6; -.
DR   DMDM; 74737549; -.
DR   jPOST; Q6P9H5; -.
DR   MassIVE; Q6P9H5; -.
DR   MaxQB; Q6P9H5; -.
DR   PaxDb; Q6P9H5; -.
DR   PeptideAtlas; Q6P9H5; -.
DR   PRIDE; Q6P9H5; -.
DR   ProteomicsDB; 67050; -. [Q6P9H5-1]
DR   ProteomicsDB; 67051; -. [Q6P9H5-2]
DR   Antibodypedia; 18618; 75 antibodies from 16 providers.
DR   DNASU; 474344; -.
DR   Ensembl; ENST00000328902.9; ENSP00000330374.5; ENSG00000133561.15. [Q6P9H5-1]
DR   Ensembl; ENST00000493969.2; ENSP00000418304.1; ENSG00000133561.15. [Q6P9H5-3]
DR   GeneID; 474344; -.
DR   KEGG; hsa:474344; -.
DR   MANE-Select; ENST00000328902.9; ENSP00000330374.5; NM_024711.6; NP_078987.3.
DR   UCSC; uc003whm.4; human. [Q6P9H5-1]
DR   CTD; 474344; -.
DR   DisGeNET; 474344; -.
DR   GeneCards; GIMAP6; -.
DR   HGNC; HGNC:21918; GIMAP6.
DR   HPA; ENSG00000133561; Low tissue specificity.
DR   MIM; 616960; gene.
DR   neXtProt; NX_Q6P9H5; -.
DR   OpenTargets; ENSG00000133561; -.
DR   PharmGKB; PA128394720; -.
DR   VEuPathDB; HostDB:ENSG00000133561; -.
DR   eggNOG; ENOG502R7PE; Eukaryota.
DR   GeneTree; ENSGT00940000162548; -.
DR   HOGENOM; CLU_010468_1_0_1; -.
DR   InParanoid; Q6P9H5; -.
DR   OMA; QKGSREW; -.
DR   OrthoDB; 1092873at2759; -.
DR   PhylomeDB; Q6P9H5; -.
DR   TreeFam; TF330845; -.
DR   PathwayCommons; Q6P9H5; -.
DR   SignaLink; Q6P9H5; -.
DR   BioGRID-ORCS; 474344; 7 hits in 1061 CRISPR screens.
DR   GenomeRNAi; 474344; -.
DR   Pharos; Q6P9H5; Tbio.
DR   PRO; PR:Q6P9H5; -.
DR   Proteomes; UP000005640; Chromosome 7.
DR   RNAct; Q6P9H5; protein.
DR   Bgee; ENSG00000133561; Expressed in granulocyte and 177 other tissues.
DR   ExpressionAtlas; Q6P9H5; baseline and differential.
DR   Genevisible; Q6P9H5; HS.
DR   GO; GO:0005829; C:cytosol; IDA:UniProtKB.
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   2: Evidence at transcript level;
KW   Alternative splicing; Cytoplasm; GTP-binding; Nucleotide-binding;
KW   Reference proteome.
FT   CHAIN           1..292
FT                   /note="GTPase IMAP family member 6"
FT                   /id="PRO_0000333011"
FT   DOMAIN          38..240
FT                   /note="AIG1-type G"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU01057"
FT   REGION          1..39
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   REGION          250..275
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   BINDING         47..55
FT                   /ligand="GTP"
FT                   /ligand_id="ChEBI:CHEBI:37565"
FT                   /evidence="ECO:0000250|UniProtKB:Q8WWP7"
FT   BINDING         68
FT                   /ligand="GTP"
FT                   /ligand_id="ChEBI:CHEBI:37565"
FT                   /evidence="ECO:0000250|UniProtKB:Q9UG22"
FT   BINDING         164..166
FT                   /ligand="GTP"
FT                   /ligand_id="ChEBI:CHEBI:37565"
FT                   /evidence="ECO:0000250|UniProtKB:Q8WWP7"
FT   BINDING         201
FT                   /ligand="GTP"
FT                   /ligand_id="ChEBI:CHEBI:37565"
FT                   /evidence="ECO:0000250|UniProtKB:Q8WWP7"
FT   VAR_SEQ         1..103
FT                   /note="MEEEEYEQIPQENPPEELSQDPVLELSGGLREKEQKTPRRLRLILMGKTGSG
FT                   KSATGNSILGRDVFESKLSTRPVTKTSQRRSREWAGKELEVIDTPNILSPQ -> MNKF
FT                   PRRIPQKSCPRILCWSCQE (in isoform 2)"
FT                   /evidence="ECO:0000303|PubMed:14702039,
FT                   ECO:0000303|PubMed:15474311"
FT                   /id="VSP_033436"
FT   VAR_SEQ         31..62
FT                   /note="REKEQKTPRRLRLILMGKTGSGKSATGNSILG -> ARGGRRYLPSHRLIRP
FT                   RAPRRAPGDTTGPVHG (in isoform 3)"
FT                   /evidence="ECO:0000303|PubMed:15489334"
FT                   /id="VSP_045595"
FT   VAR_SEQ         63..292
FT                   /note="Missing (in isoform 3)"
FT                   /evidence="ECO:0000303|PubMed:15489334"
FT                   /id="VSP_045596"
FT   VARIANT         65
FT                   /note="V -> I (in dbSNP:rs17173519)"
FT                   /id="VAR_049533"
FT   VARIANT         170
FT                   /note="G -> D (in dbSNP:rs11974345)"
FT                   /id="VAR_043037"
FT   VARIANT         171
FT                   /note="G -> S (in dbSNP:rs13234724)"
FT                   /evidence="ECO:0000269|PubMed:14702039"
FT                   /id="VAR_043038"
FT   VARIANT         237
FT                   /note="Q -> R (in dbSNP:rs11977216)"
FT                   /id="VAR_043039"
FT   CONFLICT        280
FT                   /note="E -> A (in Ref. 1; CAE45757)"
FT                   /evidence="ECO:0000305"
FT   CONFLICT        Q6P9H5-3:46
FT                   /note="P -> S (in Ref. 6; CD559670)"
FT                   /evidence="ECO:0000305"
SQ   SEQUENCE   292 AA;  32949 MW;  366A26E07C523C6D CRC64;
     MEEEEYEQIP QENPPEELSQ DPVLELSGGL REKEQKTPRR LRLILMGKTG SGKSATGNSI
     LGRDVFESKL STRPVTKTSQ RRSREWAGKE LEVIDTPNIL SPQVSPEVAD AICQAIVLSA
     PGPHAVLLVT QLGRFTDEDQ QVVRRLQEVF GVGVLGHTIL VFTRKEDLAG GSLEDYVRET
     NNQALAWLDV TLARRHCGFN NRAQGEEQEA QLRELMEKVE AIMWENEGDY YSNKAYQYTQ
     QNFRLKELQE RQVSQGQGSE DVPGEESWLE GLSQIQKESE EAHRCLLGKA DL
 
 
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