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GTPase IMAP family member 5 (Immunity-associated nucleotide 4 protein) (IAN-4) (Immunity-associated nucleotide 4-like 1 protein)

 GIMA5_RAT               Reviewed;         326 AA.
Q8K3L6; Q5YEJ2; Q5YEJ3; Q8K3L7;
14-NOV-2003, integrated into UniProtKB/Swiss-Prot.
01-OCT-2002, sequence version 1.
07-JUN-2017, entry version 105.
RecName: Full=GTPase IMAP family member 5;
AltName: Full=Immunity-associated nucleotide 4 protein;
Short=IAN-4;
AltName: Full=Immunity-associated nucleotide 4-like 1 protein;
Name=Gimap5; Synonyms=Ian4, Ian4l1, Iddm1, Lyp;
Rattus norvegicus (Rat).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha;
Muroidea; Muridae; Murinae; Rattus.
NCBI_TaxID=10116;
[1]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2), VARIANTS VAL-174 AND
ILE-221, AND INVOLVEMENT IN INSULIN-DEPENDENT DIABETES AND T-CELL
LYMPHOPENIA.
STRAIN=BB; TISSUE=Thymus;
PubMed=12031988; DOI=10.2337/diabetes.51.6.1972;
Hornum L., Romer J., Markholst H.;
"The diabetes-prone BB rat carries a frameshift mutation in Ian4, a
positional candidate of Iddm1.";
Diabetes 51:1972-1979(2002).
[2]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2).
STRAIN=BB; TISSUE=Thymus;
PubMed=15474297; DOI=10.1016/j.gene.2004.06.034;
Andersen U.N., Markholst H., Hornum L.;
"The antiapoptotic gene Ian4l1 in the rat: genomic organization and
promoter characterization.";
Gene 341:141-148(2004).
[3]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
TISSUE=Kidney;
PubMed=15489334; DOI=10.1101/gr.2596504;
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA
project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
[4]
FUNCTION, AND DISRUPTION PHENOTYPE.
PubMed=12930893; DOI=10.1073/pnas.1832170100;
Pandarpurkar M., Wilson-Fritch L., Corvera S., Markholst H.,
Hornum L., Greiner D.L., Mordes J.P., Rossini A.A., Bortell R.;
"Ian4 is required for mitochondrial integrity and T cell survival.";
Proc. Natl. Acad. Sci. U.S.A. 100:10382-10387(2003).
[5]
FUNCTION, AND DISRUPTION PHENOTYPE.
PubMed=15307172; DOI=10.1002/eji.200324751;
Lang J.A., Kominski D., Bellgrau D., Scheinman R.I.;
"Partial activation precedes apoptotic death in T cells harboring an
IAN gene mutation.";
Eur. J. Immunol. 34:2396-2406(2004).
[6]
SUBCELLULAR LOCATION.
PubMed=21487483; DOI=10.4161/self.1.3.12819;
Wong V.W., Saunders A.E., Hutchings A., Pascall J.C., Carter C.,
Bright N.A., Walker S.A., Ktistakis N.T., Butcher G.W.;
"The autoimmunity-related GIMAP5 GTPase is a lysosome-associated
protein.";
Self/Nonself 1:259-268(2010).
-!- FUNCTION: Required for mitochondrial integrity and T-cell
survival. May contribute to T-cell quiescence.
{ECO:0000269|PubMed:12930893, ECO:0000269|PubMed:15307172}.
-!- SUBCELLULAR LOCATION: Mitochondrion outer membrane {ECO:0000250};
Single-pass type IV membrane protein {ECO:0000250}. Lysosome
{ECO:0000250}.
-!- ALTERNATIVE PRODUCTS:
Event=Alternative splicing; Named isoforms=2;
Name=1; Synonyms=Long, IAN4L1L;
IsoId=Q8K3L6-1; Sequence=Displayed;
Name=2; Synonyms=Short, IAN4L1S;
IsoId=Q8K3L6-2; Sequence=VSP_008962;
-!- TISSUE SPECIFICITY: Primarily expressed in spleen, thymus, heart,
lung and intestine and to a lesser degree in kidney, stomach and
muscle.
-!- DISEASE: Note=Defects in Gimap5 are the cause of insulin-dependent
diabetes and T-cell lymphopenia. A frameshift mutation results in
a truncated protein. {ECO:0000269|PubMed:12031988}.
-!- DISRUPTION PHENOTYPE: Rats lacking Gimap5 in T-cells display
mitochondrial dysfunction, increased mitochondrial levels of
stress-inducible chaperonins, and T-cell-specific spontaneous
apoptosis. Gimap5-deficient T-cells undergo partial activation but
do not progress through mitosis. {ECO:0000269|PubMed:12930893,
ECO:0000269|PubMed:15307172}.
-!- SIMILARITY: Belongs to the TRAFAC class TrmE-Era-EngA-EngB-Septin-
like GTPase superfamily. AIG1/Toc34/Toc159-like paraseptin GTPase
family. IAN subfamily. {ECO:0000305}.
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EMBL; AY055776; AAL17698.1; -; mRNA.
EMBL; AY055777; AAL17699.2; -; mRNA.
EMBL; AY550018; AAS56933.1; -; mRNA.
EMBL; AY550019; AAS56934.1; -; mRNA.
EMBL; AY550020; AAS56935.1; -; mRNA.
EMBL; AY550021; AAS56936.1; -; mRNA.
EMBL; AY550022; AAS56937.1; -; mRNA.
EMBL; AY550023; AAS56938.1; -; mRNA.
EMBL; BC092561; AAH92561.1; -; mRNA.
RefSeq; NP_001029085.1; NM_001033913.1. [Q8K3L6-1]
RefSeq; NP_663713.1; NM_145680.3. [Q8K3L6-2]
RefSeq; XP_006236519.1; XM_006236457.3. [Q8K3L6-1]
RefSeq; XP_006236520.1; XM_006236458.3. [Q8K3L6-2]
RefSeq; XP_008761093.1; XM_008762871.2. [Q8K3L6-2]
UniGene; Rn.83549; -.
ProteinModelPortal; Q8K3L6; -.
SMR; Q8K3L6; -.
STRING; 10116.ENSRNOP00000055929; -.
PaxDb; Q8K3L6; -.
PRIDE; Q8K3L6; -.
Ensembl; ENSRNOT00000059156; ENSRNOP00000055929; ENSRNOG00000008416. [Q8K3L6-1]
Ensembl; ENSRNOT00000084927; ENSRNOP00000072663; ENSRNOG00000008416. [Q8K3L6-2]
GeneID; 246774; -.
KEGG; rno:246774; -.
UCSC; RGD:628871; rat. [Q8K3L6-1]
CTD; 55340; -.
RGD; 628871; Gimap5.
eggNOG; ENOG410JA52; Eukaryota.
eggNOG; ENOG411152A; LUCA.
GeneTree; ENSGT00760000118989; -.
HOGENOM; HOG000115747; -.
HOVERGEN; HBG004016; -.
InParanoid; Q8K3L6; -.
OMA; FQKGKYG; -.
OrthoDB; EOG091G0I0X; -.
PhylomeDB; Q8K3L6; -.
TreeFam; TF330845; -.
PRO; PR:Q8K3L6; -.
Proteomes; UP000002494; Chromosome 4.
Bgee; ENSRNOG00000008416; -.
ExpressionAtlas; Q8K3L6; baseline and differential.
Genevisible; Q8K3L6; RN.
GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
GO; GO:0005764; C:lysosome; IEA:UniProtKB-SubCell.
GO; GO:0005741; C:mitochondrial outer membrane; IEA:UniProtKB-SubCell.
GO; GO:0005739; C:mitochondrion; IDA:RGD.
GO; GO:0005525; F:GTP binding; IEA:UniProtKB-KW.
GO; GO:0043011; P:myeloid dendritic cell differentiation; IMP:RGD.
GO; GO:0043066; P:negative regulation of apoptotic process; IMP:RGD.
GO; GO:0032689; P:negative regulation of interferon-gamma production; IMP:RGD.
GO; GO:0050995; P:negative regulation of lipid catabolic process; IMP:RGD.
GO; GO:0045019; P:negative regulation of nitric oxide biosynthetic process; IMP:RGD.
GO; GO:0050868; P:negative regulation of T cell activation; IMP:RGD.
GO; GO:0010524; P:positive regulation of calcium ion transport into cytosol; IMP:RGD.
GO; GO:0032831; P:positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation; IMP:RGD.
GO; GO:0045588; P:positive regulation of gamma-delta T cell differentiation; IMP:RGD.
GO; GO:0002925; P:positive regulation of humoral immune response mediated by circulating immunoglobulin; IMP:RGD.
GO; GO:0045838; P:positive regulation of membrane potential; IMP:RGD.
GO; GO:0002729; P:positive regulation of natural killer cell cytokine production; IMP:RGD.
GO; GO:0045954; P:positive regulation of natural killer cell mediated cytotoxicity; IMP:RGD.
GO; GO:0046902; P:regulation of mitochondrial membrane permeability; IMP:RGD.
GO; GO:0030217; P:T cell differentiation; IEP:RGD.
GO; GO:0043029; P:T cell homeostasis; IMP:RGD.
GO; GO:0001659; P:temperature homeostasis; IMP:RGD.
InterPro; IPR006703; G_AIG1.
InterPro; IPR027417; P-loop_NTPase.
Pfam; PF04548; AIG1; 1.
SUPFAM; SSF52540; SSF52540; 1.
PROSITE; PS51720; G_AIG1; 1.
2: Evidence at transcript level;
Alternative splicing; Complete proteome; GTP-binding; Lysosome;
Membrane; Mitochondrion; Mitochondrion outer membrane;
Nucleotide-binding; Polymorphism; Reference proteome; Transmembrane;
Transmembrane helix.
CHAIN 1 326 GTPase IMAP family member 5.
/FTId=PRO_0000190992.
TOPO_DOM 1 297 Cytoplasmic. {ECO:0000255}.
TRANSMEM 298 318 Helical; Anchor for type IV membrane
protein. {ECO:0000255}.
TOPO_DOM 319 326 Lumenal. {ECO:0000255}.
DOMAIN 42 245 AIG1-type G.
NP_BIND 51 59 GTP. {ECO:0000250}.
NP_BIND 169 171 GTP. {ECO:0000250}.
BINDING 72 72 GTP. {ECO:0000250}.
BINDING 206 206 GTP. {ECO:0000250}.
VAR_SEQ 1 32 MEDHGFEELSTRTHDLNVRRLTKGNINFLLST -> MEGLQ
KSTYGTIVE (in isoform 2).
{ECO:0000303|PubMed:12031988,
ECO:0000303|PubMed:15474297}.
/FTId=VSP_008962.
VARIANT 174 174 A -> V. {ECO:0000269|PubMed:12031988}.
VARIANT 221 221 M -> I. {ECO:0000269|PubMed:12031988}.
SEQUENCE 326 AA; 37266 MW; 1452F22932FB5F51 CRC64;
MEDHGFEELS TRTHDLNVRR LTKGNINFLL STGQETYSVE DSGLLRILLV GKSGCGKSAT
GNSILRRPAF ESRLRGQSVT RTSQAEMGTW EGRSFLVVDT PPIFESKIQN QDMDKDIGNC
YLMCAPGPHV LLLVTQLGRY TVEDAMAVRM VKQIFGVGVM RYMIVLFTHK EDLADESLEE
FVTHTGNLDL HRLVQECGRR YCAFNNKASG EEQQGQLAEL MALVRRLEQE HEGSFHSNDL
FVYTQVFLRG GYSEHQEPYK FYLTKVRQEV EKQKRELEEQ EGSWMAKMLC RVTSCLDWHI
AVSVLLIVLG LTLLITLINM YIGRWK


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