GAR5A_HUMAN
ID GAR5A_HUMAN Reviewed; 247 AA.
AC Q6IPT2; Q96EJ5; Q9BSM9;
DT 20-MAY-2008, integrated into UniProtKB/Swiss-Prot.
DT 20-MAY-2008, sequence version 2.
DT 03-AUG-2022, entry version 118.
DE RecName: Full=Golgi associated RAB2 interactor protein 5A {ECO:0000305};
GN Name=GARIN5A {ECO:0000312|HGNC:HGNC:25107}; Synonyms=FAM71E1;
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 [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 (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), AND NUCLEOTIDE SEQUENCE
RP [LARGE SCALE MRNA] OF 31-247 (ISOFORM 1).
RC TISSUE=Brain, Ovary, and Pancreas;
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).
CC -!- FUNCTION: RAB2B effector protein which promotes cytosolic DNA-induced
CC innate immune responses. Regulates IFN responses against DNA viruses by
CC regulating the CGAS-STING signaling axis.
CC {ECO:0000250|UniProtKB:A1L3C1}.
CC -!- SUBUNIT: Interacts (via N-terminus) with RAB2B (in GTP-bound form).
CC {ECO:0000250|UniProtKB:A1L3C1}.
CC -!- SUBCELLULAR LOCATION: Golgi apparatus {ECO:0000250|UniProtKB:A1L3C1}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q6IPT2-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q6IPT2-2; Sequence=VSP_033760;
CC -!- SIMILARITY: Belongs to the GARIN family. {ECO:0000305}.
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DR EMBL; CH471135; EAW71869.1; -; Genomic_DNA.
DR EMBL; BC004941; AAH04941.1; -; mRNA.
DR EMBL; BC012203; AAH12203.1; -; mRNA.
DR EMBL; BC071737; AAH71737.1; -; mRNA.
DR CCDS; CCDS33081.1; -. [Q6IPT2-2]
DR CCDS; CCDS77337.1; -. [Q6IPT2-1]
DR RefSeq; NP_001295358.1; NM_001308429.1. [Q6IPT2-1]
DR RefSeq; NP_612420.1; NM_138411.2. [Q6IPT2-2]
DR AlphaFoldDB; Q6IPT2; -.
DR BioGRID; 125198; 2.
DR IntAct; Q6IPT2; 1.
DR STRING; 9606.ENSP00000471272; -.
DR PhosphoSitePlus; Q6IPT2; -.
DR BioMuta; FAM71E1; -.
DR DMDM; 189037931; -.
DR MassIVE; Q6IPT2; -.
DR PeptideAtlas; Q6IPT2; -.
DR PRIDE; Q6IPT2; -.
DR Antibodypedia; 68558; 1 antibodies from 1 providers.
DR DNASU; 112703; -.
DR Ensembl; ENST00000595790.5; ENSP00000471272.2; ENSG00000142530.11. [Q6IPT2-2]
DR Ensembl; ENST00000600100.6; ENSP00000472421.2; ENSG00000142530.11. [Q6IPT2-1]
DR GeneID; 112703; -.
DR KEGG; hsa:112703; -.
DR MANE-Select; ENST00000600100.6; ENSP00000472421.2; NM_001308429.2; NP_001295358.1.
DR UCSC; uc002psg.3; human. [Q6IPT2-1]
DR CTD; 112703; -.
DR GeneCards; FAM71E1; -.
DR HGNC; HGNC:25107; GARIN5A.
DR HPA; ENSG00000142530; Tissue enhanced (testis).
DR neXtProt; NX_Q6IPT2; -.
DR OpenTargets; ENSG00000142530; -.
DR VEuPathDB; HostDB:ENSG00000142530; -.
DR eggNOG; ENOG502S585; Eukaryota.
DR GeneTree; ENSGT00940000162319; -.
DR InParanoid; Q6IPT2; -.
DR OMA; HDESRCQ; -.
DR OrthoDB; 1443136at2759; -.
DR PhylomeDB; Q6IPT2; -.
DR TreeFam; TF336050; -.
DR PathwayCommons; Q6IPT2; -.
DR BioGRID-ORCS; 112703; 34 hits in 1072 CRISPR screens.
DR GenomeRNAi; 112703; -.
DR Pharos; Q6IPT2; Tdark.
DR PRO; PR:Q6IPT2; -.
DR Proteomes; UP000005640; Chromosome 19.
DR RNAct; Q6IPT2; protein.
DR Bgee; ENSG00000142530; Expressed in left testis and 112 other tissues.
DR ExpressionAtlas; Q6IPT2; baseline and differential.
DR Genevisible; Q6IPT2; HS.
DR GO; GO:0005794; C:Golgi apparatus; ISS:UniProtKB.
DR GO; GO:0051607; P:defense response to virus; ISS:UniProtKB.
DR GO; GO:0045087; P:innate immune response; ISS:UniProtKB.
DR GO; GO:0032481; P:positive regulation of type I interferon production; ISS:UniProtKB.
DR InterPro; IPR022168; DUF3699.
DR Pfam; PF12480; DUF3699; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; Golgi apparatus; Reference proteome.
FT CHAIN 1..247
FT /note="Golgi associated RAB2 interactor protein 5A"
FT /id="PRO_0000334697"
FT REGION 1..22
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 60..92
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1..19
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 121..136
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_033760"
FT VARIANT 206
FT /note="S -> I (in dbSNP:rs736769)"
FT /id="VAR_043465"
SQ SEQUENCE 247 AA; 27609 MW; ADACD74E710CB6C3 CRC64;
MGPPLWPDLQ EPPPPGTSSQ IRSPLLCDVI KPAPHHDVTV RVVPPPRFLP LLLRPLPSDG
DIAMRRDRGP KPALGGAGEV EPGGMAASPT GRPRRLQRYL QSGEFDQFRD FPIFESNFVQ
FCPDIYPAPT SDLWPQVTRL GEVANEVTMG VAASSPALEL PDLLLLAGPA KENGHLQLFG
LFPLKFVQLF VHDKSRCQLE VKLNTSRTFY LQLRAPLKTR DREFGQWVRL LYRLRFLSAS
AVPFTQE
