GIMA8_HUMAN
ID GIMA8_HUMAN Reviewed; 665 AA.
AC Q8ND71; A0A090N8H2;
DT 01-JUL-2008, integrated into UniProtKB/Swiss-Prot.
DT 15-FEB-2005, sequence version 2.
DT 03-AUG-2022, entry version 146.
DE RecName: Full=GTPase IMAP family member 8;
DE AltName: Full=Immune-associated nucleotide-binding protein 9;
DE Short=IAN-9;
DE AltName: Full=Protein IanT;
GN Name=GIMAP8; Synonyms=IAN9, IANT;
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].
RC TISSUE=Spleen;
RX PubMed=16103028; DOI=10.1093/intimm/dxh302;
RA Dion C., Carter C., Hepburn L., Coadwell W.J., Morgan G., Graham M.,
RA Pugh N., Anderson G., Butcher G.W., Miller J.R.;
RT "Expression of the Ian family of putative GTPases during T cell development
RT and description of an Ian with three sets of GTP/GDP-binding motifs.";
RL Int. Immunol. 17:1257-1268(2005).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Lymph node;
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 [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=12690205; DOI=10.1126/science.1083423;
RA Scherer S.W., Cheung J., MacDonald J.R., Osborne L.R., Nakabayashi K.,
RA Herbrick J.-A., Carson A.R., Parker-Katiraee L., Skaug J., Khaja R.,
RA Zhang J., Hudek A.K., Li M., Haddad M., Duggan G.E., Fernandez B.A.,
RA Kanematsu E., Gentles S., Christopoulos C.C., Choufani S., Kwasnicka D.,
RA Zheng X.H., Lai Z., Nusskern D.R., Zhang Q., Gu Z., Lu F., Zeesman S.,
RA Nowaczyk M.J., Teshima I., Chitayat D., Shuman C., Weksberg R.,
RA Zackai E.H., Grebe T.A., Cox S.R., Kirkpatrick S.J., Rahman N.,
RA Friedman J.M., Heng H.H.Q., Pelicci P.G., Lo-Coco F., Belloni E.,
RA Shaffer L.G., Pober B., Morton C.C., Gusella J.F., Bruns G.A.P., Korf B.R.,
RA Quade B.J., Ligon A.H., Ferguson H., Higgins A.W., Leach N.T.,
RA Herrick S.R., Lemyre E., Farra C.G., Kim H.-G., Summers A.M., Gripp K.W.,
RA Roberts W., Szatmari P., Winsor E.J.T., Grzeschik K.-H., Teebi A.,
RA Minassian B.A., Kere J., Armengol L., Pujana M.A., Estivill X.,
RA Wilson M.D., Koop B.F., Tosi S., Moore G.E., Boright A.P., Zlotorynski E.,
RA Kerem B., Kroisel P.M., Petek E., Oscier D.G., Mould S.J., Doehner H.,
RA Doehner K., Rommens J.M., Vincent J.B., Venter J.C., Li P.W., Mural R.J.,
RA Adams M.D., Tsui L.-C.;
RT "Human chromosome 7: DNA sequence and biology.";
RL Science 300:767-772(2003).
RN [4]
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 [5]
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).
RN [6]
RP 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 [7]
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 -!- FUNCTION: Exerts an anti-apoptotic effect in the immune system and is
CC involved in responses to infections. {ECO:0000250|UniProtKB:Q75N62}.
CC -!- SUBCELLULAR LOCATION: Endoplasmic reticulum
CC {ECO:0000250|UniProtKB:Q75N62}. Golgi apparatus
CC {ECO:0000250|UniProtKB:Q75N62}. Mitochondrion
CC {ECO:0000250|UniProtKB:Q75N62}. Cytoplasm, cytosol
CC {ECO:0000269|PubMed:23454188}.
CC -!- TISSUE SPECIFICITY: Expressed in the spleen, intestine, liver, and
CC colon, as well as in lung, placenta, kidney, muscle, and heart.
CC Extremely low expression, if any, in brain, in thymus, bone marrow, and
CC blood leukocytes (PubMed:15474311). Detected in T-cells
CC (PubMed:23454188). {ECO:0000269|PubMed:15474311,
CC 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; AJ633686; CAG17881.1; -; mRNA.
DR EMBL; AL834361; CAD39025.2; -; mRNA.
DR EMBL; AACC02000108; EAL24479.1; -; Genomic_DNA.
DR EMBL; CH471173; EAW54107.1; -; Genomic_DNA.
DR EMBL; BC107037; AAI07038.1; -; mRNA.
DR CCDS; CCDS34777.1; -.
DR RefSeq; NP_783161.1; NM_175571.3.
DR RefSeq; XP_005250007.1; XM_005249950.4.
DR AlphaFoldDB; Q8ND71; -.
DR SMR; Q8ND71; -.
DR BioGRID; 127570; 31.
DR IntAct; Q8ND71; 9.
DR STRING; 9606.ENSP00000305107; -.
DR iPTMnet; Q8ND71; -.
DR PhosphoSitePlus; Q8ND71; -.
DR BioMuta; GIMAP8; -.
DR DMDM; 74751212; -.
DR jPOST; Q8ND71; -.
DR MassIVE; Q8ND71; -.
DR PaxDb; Q8ND71; -.
DR PeptideAtlas; Q8ND71; -.
DR PRIDE; Q8ND71; -.
DR ProteomicsDB; 72983; -.
DR Antibodypedia; 2915; 127 antibodies from 20 providers.
DR DNASU; 155038; -.
DR Ensembl; ENST00000307271.4; ENSP00000305107.3; ENSG00000171115.4.
DR GeneID; 155038; -.
DR KEGG; hsa:155038; -.
DR MANE-Select; ENST00000307271.4; ENSP00000305107.3; NM_175571.4; NP_783161.1.
DR UCSC; uc003whj.4; human.
DR CTD; 155038; -.
DR DisGeNET; 155038; -.
DR GeneCards; GIMAP8; -.
DR HGNC; HGNC:21792; GIMAP8.
DR HPA; ENSG00000171115; Tissue enhanced (lymphoid).
DR MIM; 616962; gene.
DR neXtProt; NX_Q8ND71; -.
DR OpenTargets; ENSG00000171115; -.
DR PharmGKB; PA128394762; -.
DR VEuPathDB; HostDB:ENSG00000171115; -.
DR eggNOG; ENOG502RB0C; Eukaryota.
DR GeneTree; ENSGT00940000162462; -.
DR HOGENOM; CLU_010468_5_1_1; -.
DR InParanoid; Q8ND71; -.
DR OMA; QHCLELS; -.
DR OrthoDB; 1033397at2759; -.
DR PhylomeDB; Q8ND71; -.
DR TreeFam; TF330845; -.
DR PathwayCommons; Q8ND71; -.
DR SignaLink; Q8ND71; -.
DR BioGRID-ORCS; 155038; 7 hits in 1071 CRISPR screens.
DR GenomeRNAi; 155038; -.
DR Pharos; Q8ND71; Tbio.
DR PRO; PR:Q8ND71; -.
DR Proteomes; UP000005640; Chromosome 7.
DR RNAct; Q8ND71; protein.
DR Bgee; ENSG00000171115; Expressed in tendon of biceps brachii and 174 other tissues.
DR Genevisible; Q8ND71; HS.
DR GO; GO:0005829; C:cytosol; IBA:GO_Central.
DR GO; GO:0005783; C:endoplasmic reticulum; IEA:UniProtKB-SubCell.
DR GO; GO:0005794; C:Golgi apparatus; IEA:UniProtKB-SubCell.
DR GO; GO:0005739; C:mitochondrion; IEA:UniProtKB-SubCell.
DR GO; GO:0005525; F:GTP binding; IEA:UniProtKB-KW.
DR GO; GO:0070232; P:regulation of T cell apoptotic process; IEA:Ensembl.
DR Gene3D; 3.40.50.300; -; 3.
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; 3.
DR SUPFAM; SSF52540; SSF52540; 3.
DR PROSITE; PS51720; G_AIG1; 3.
PE 2: Evidence at transcript level;
KW Coiled coil; Cytoplasm; Endoplasmic reticulum; Golgi apparatus;
KW GTP-binding; Mitochondrion; Nucleotide-binding; Reference proteome; Repeat.
FT CHAIN 1..665
FT /note="GTPase IMAP family member 8"
FT /id="PRO_0000341970"
FT DOMAIN 8..210
FT /note="AIG1-type G 1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01057"
FT DOMAIN 245..435
FT /note="AIG1-type G 2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01057"
FT DOMAIN 436..644
FT /note="AIG1-type G 3"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01057"
FT REGION 17..24
FT /note="G1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01057"
FT REGION 44..48
FT /note="G2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01057"
FT REGION 65..68
FT /note="G3"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01057"
FT REGION 134..137
FT /note="G4"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01057"
FT REGION 169..171
FT /note="G5"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01057"
FT REGION 217..246
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COILED 400..427
FT /evidence="ECO:0000255"
FT COILED 608..657
FT /evidence="ECO:0000255"
FT COMPBIAS 230..246
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT BINDING 17..25
FT /ligand="GTP"
FT /ligand_id="ChEBI:CHEBI:37565"
FT /evidence="ECO:0000250|UniProtKB:Q8WWP7"
FT BINDING 38
FT /ligand="GTP"
FT /ligand_id="ChEBI:CHEBI:37565"
FT /evidence="ECO:0000250|UniProtKB:Q9UG22"
FT BINDING 135..137
FT /ligand="GTP"
FT /ligand_id="ChEBI:CHEBI:37565"
FT /evidence="ECO:0000250|UniProtKB:Q8WWP7"
FT BINDING 170
FT /ligand="GTP"
FT /ligand_id="ChEBI:CHEBI:37565"
FT /evidence="ECO:0000250|UniProtKB:Q8WWP7"
FT VARIANT 301
FT /note="I -> T (in dbSNP:rs2293283)"
FT /id="VAR_044129"
SQ SEQUENCE 665 AA; 74890 MW; F083B3F29D43F973 CRC64;
MSEQSCQMSE LRLLLLGKCR SGKSATGNAI LGKHVFKSKF SDQTVIKMCQ RESWVLRERK
VVVIDTPDLF SSIACAEDKQ RNIQHCLELS APSLHALLLV IAIGHFTRED EETAKGIQQV
FGAEARRHII IVFTRKDDLG DDLLQDFIEK NKPLKQLVQD YEGRYCIFNN KTNSKDEQIT
QVLELLRKVE SLVNTNGGPY HVNFKTEGSR FQDCVNEAAS QEGDKPQGPR ERQLQSTGPE
QNPGTSELTV LLVGKRGAGK SAAGNSILGR QAFQTGFSEQ SVTQSFLSES RSWRKKKVSI
IDAPDISSLK NIDSEVRKHI CTGPHAFLLV TPLGFYTKND EAVLSTIQNN FGEKFFEYMI
ILLTRKEDLG DQDLDTFLRN SNKALYGLIQ KCKNRYSAFN YRATGEEEQR QADELLEKIE
SMVHQNGNKH CVFREKETLN IVLVGRSGTG KSATGNSILG SLVFTSRLRA QPVTKTSQSG
RRTWDGQEVV VVDTPSFNQM LDVEKDPSRL EEEVKRCLSC CEKGDTFFVL VFQLGRFTEE
DKTAVAKLEA IFGADFTKYA IMLFTRKEDL GAGNLEDFMK NSDNKALRRI FKKCGRRVCA
FNNKETGQAQ ETQVKALLTK VNDLRKESGW SGYPHTQENV SKLIKNVQEM SQAEKLLKNL
IGILQ
