GAR4_HUMAN
ID GAR4_HUMAN Reviewed; 594 AA.
AC Q8IYT1; Q5VTZ1;
DT 28-NOV-2006, integrated into UniProtKB/Swiss-Prot.
DT 28-NOV-2006, sequence version 2.
DT 03-AUG-2022, entry version 117.
DE RecName: Full=Golgi associated RAB2 interactor protein 4 {ECO:0000305};
DE AltName: Full=Golgi-associated Rab2B interactor-like 4 {ECO:0000303|PubMed:26209634};
DE Short=GARI-L4 {ECO:0000303|PubMed:26209634};
DE Short=GARI-like 4 {ECO:0000303|PubMed:26209634};
GN Name=GARIN4 {ECO:0000312|HGNC:HGNC:26541}; Synonyms=FAM71A;
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].
RX PubMed=16710414; DOI=10.1038/nature04727;
RA Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A.,
RA Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C.,
RA Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.,
RA Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C.,
RA Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W.,
RA Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J.,
RA Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J.,
RA Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y.,
RA Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J.,
RA Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H.,
RA Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L.,
RA Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J.,
RA Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S.,
RA Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K.,
RA Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R.,
RA Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M.,
RA Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S.,
RA Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J.,
RA Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W.,
RA McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N.,
RA Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V.,
RA Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J.,
RA Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E.,
RA Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S.,
RA Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M.,
RA White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H.,
RA Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E.,
RA Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G.,
RA Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.;
RT "The DNA sequence and biological annotation of human chromosome 1.";
RL Nature 441:315-321(2006).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANTS ASP-22; ASP-319;
RP ASP-551 AND MET-577.
RC TISSUE=Testis;
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 [3]
RP FUNCTION, SUBCELLULAR LOCATION, AND INTERACTION WITH RAB2B.
RX PubMed=26209634; DOI=10.1074/jbc.m115.669242;
RA Aizawa M., Fukuda M.;
RT "Small GTPase Rab2B and Its Specific Binding Protein Golgi-associated Rab2B
RT Interactor-like 4 (GARI-L4) Regulate Golgi Morphology.";
RL J. Biol. Chem. 290:22250-22261(2015).
CC -!- FUNCTION: RAB2B effector protein required for the compacted Golgi
CC morphology, probably through interaction with small GTPase RAB2B.
CC {ECO:0000269|PubMed:26209634}.
CC -!- SUBUNIT: Interacts (via N-terminus) with RAB2B (in GTP-bound form).
CC {ECO:0000269|PubMed:26209634}.
CC -!- INTERACTION:
CC Q8IYT1; P61019: RAB2A; NbExp=3; IntAct=EBI-20113335, EBI-752037;
CC Q8IYT1; Q8WUD1: RAB2B; NbExp=3; IntAct=EBI-20113335, EBI-5542466;
CC -!- SUBCELLULAR LOCATION: Golgi apparatus {ECO:0000269|PubMed:26209634}.
CC -!- SIMILARITY: Belongs to the GARIN family. {ECO:0000305}.
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DR EMBL; AL590648; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC035007; AAH35007.1; -; mRNA.
DR CCDS; CCDS1507.1; -.
DR RefSeq; NP_705834.2; NM_153606.3.
DR AlphaFoldDB; Q8IYT1; -.
DR BioGRID; 127227; 2.
DR IntAct; Q8IYT1; 2.
DR STRING; 9606.ENSP00000294829; -.
DR iPTMnet; Q8IYT1; -.
DR PhosphoSitePlus; Q8IYT1; -.
DR BioMuta; FAM71A; -.
DR DMDM; 118572310; -.
DR MassIVE; Q8IYT1; -.
DR PaxDb; Q8IYT1; -.
DR PeptideAtlas; Q8IYT1; -.
DR PRIDE; Q8IYT1; -.
DR ProteomicsDB; 71232; -.
DR Antibodypedia; 34608; 122 antibodies from 18 providers.
DR DNASU; 149647; -.
DR Ensembl; ENST00000294829.5; ENSP00000294829.3; ENSG00000162771.8.
DR GeneID; 149647; -.
DR KEGG; hsa:149647; -.
DR MANE-Select; ENST00000294829.5; ENSP00000294829.3; NM_153606.4; NP_705834.2.
DR UCSC; uc001hjk.4; human.
DR CTD; 149647; -.
DR DisGeNET; 149647; -.
DR GeneCards; FAM71A; -.
DR HGNC; HGNC:26541; GARIN4.
DR HPA; ENSG00000162771; Tissue enriched (testis).
DR MIM; 619852; gene.
DR neXtProt; NX_Q8IYT1; -.
DR OpenTargets; ENSG00000162771; -.
DR VEuPathDB; HostDB:ENSG00000162771; -.
DR eggNOG; ENOG502S0XQ; Eukaryota.
DR GeneTree; ENSGT00940000162770; -.
DR HOGENOM; CLU_035424_0_0_1; -.
DR InParanoid; Q8IYT1; -.
DR OMA; GDQDQVS; -.
DR OrthoDB; 982161at2759; -.
DR PhylomeDB; Q8IYT1; -.
DR TreeFam; TF336050; -.
DR PathwayCommons; Q8IYT1; -.
DR SignaLink; Q8IYT1; -.
DR BioGRID-ORCS; 149647; 6 hits in 1061 CRISPR screens.
DR GenomeRNAi; 149647; -.
DR Pharos; Q8IYT1; Tdark.
DR PRO; PR:Q8IYT1; -.
DR Proteomes; UP000005640; Chromosome 1.
DR RNAct; Q8IYT1; protein.
DR Bgee; ENSG00000162771; Expressed in sperm and 114 other tissues.
DR Genevisible; Q8IYT1; HS.
DR GO; GO:0005794; C:Golgi apparatus; IDA:UniProtKB.
DR GO; GO:0005634; C:nucleus; HDA:UniProtKB.
DR GO; GO:0007030; P:Golgi organization; IMP:UniProtKB.
DR InterPro; IPR022168; DUF3699.
DR Pfam; PF12480; DUF3699; 1.
PE 1: Evidence at protein level;
KW Golgi apparatus; Reference proteome.
FT CHAIN 1..594
FT /note="Golgi associated RAB2 interactor protein 4"
FT /id="PRO_0000261630"
FT REGION 387..524
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 395..412
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 414..439
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 464..507
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 508..524
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VARIANT 22
FT /note="N -> D (in dbSNP:rs17853363)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_029464"
FT VARIANT 253
FT /note="N -> S (in dbSNP:rs3122712)"
FT /id="VAR_029465"
FT VARIANT 319
FT /note="G -> D (in dbSNP:rs17853362)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_029466"
FT VARIANT 551
FT /note="N -> D (in dbSNP:rs3122713)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_029467"
FT VARIANT 577
FT /note="T -> M (in dbSNP:rs3795842)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_029468"
SQ SEQUENCE 594 AA; 63177 MW; 431030E1A824E6FF CRC64;
MNADFLLPYY TAQSGSSMSM FNTTMGKLQR QLYKGEYDIF KYAPIFESDF IQITKRGEVI
DVHNRVRMVT MGIARTSPIL PLPDVMLLAR PATGCEEYAG HGQATKRKKR KAAKNLELTR
LLPLRFVRIS VQDHEKQQLR LKFATGRSCY LQLCPALDTR DDLFAYWEKL IYLLRPPMES
NSSTCGIPAE DMMWMPVFQE DRRSLGAVNL QGKGDQDQVS IQSLHMVSEV CGATSAAYAG
GEGLQNDFNK PTNVLNASIP KTSTELAEEP ATGGIKEAAA AGAAAGAATG TVAGALSVAA
ANSAPGQVSA AIAGAATIGA GGNKGNMALA GTASMAPNST KVAVAGAAGK SSEHVSSASM
SLSREGSVSL AIAGVVLTSR TAAEADMDAA AGPPVSTRQS KSSLSGQHGR ERTQASAEGC
KEGRERREKD RALGRSSHRR RTGESRHKTR GDKIAQKSSS RSSFSHRANR DDKKEKGCGN
PGSSRHRDSH KGVSHTPISK ESRTSHKSGR SLWTTSSGSS KGLGRVSSFL RNVRANLTTK
VVGTPHGRDV NVMAKMAERS TNVAIAETAE GGQGLETVGS MTPDIMETVT FEAH
