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
