ID   GAR3_HUMAN              Reviewed;         605 AA.
AC   Q8TC56; Q1EDD9; Q8TC64; Q96LY8;
DT   01-MAY-2007, integrated into UniProtKB/Swiss-Prot.
DT   01-MAY-2007, sequence version 2.
DT   27-MAR-2024, entry version 125.
DE   RecName: Full=Golgi-associated RAB2 interactor protein 3 {ECO:0000305};
GN   Name=GARIN3 {ECO:0000312|HGNC:HGNC:28397}; Synonyms=FAM71B;
GN   ORFNames=HSD-51, HSD51;
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 MRNA], AND VARIANT THR-564.
RC   TISSUE=Testis;
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   [2]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC   TISSUE=Testis;
RA   Wang Y., Miao S.Y., Zhang X.D., Qiao Y., Liang G., Wang L.F.;
RT   "A new spermatogenesis-related gene.";
RL   Submitted (MAR-2005) to the EMBL/GenBank/DDBJ databases.
RN   [3]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANTS VAL-543 AND THR-564.
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   [4]
RP   FUNCTION, SUBCELLULAR LOCATION, AND INTERACTION WITH FRG1.
RX   PubMed=17103222; DOI=10.1007/s00412-006-0083-3;
RA   van Koningsbruggen S., Straasheijm K.R., Sterrenburg E., de Graaf N.,
RA   Dauwerse H.G., Frants R.R., van der Maarel S.M.;
RT   "FRG1P-mediated aggregation of proteins involved in pre-mRNA processing.";
RL   Chromosoma 116:53-64(2007).
RN   [5]
RP   TISSUE SPECIFICITY.
RX   PubMed=25609838; DOI=10.1095/biolreprod.114.126250;
RA   Petit F.G., Kervarrec C., Jamin S.P., Smagulova F., Hao C., Becker E.,
RA   Jegou B., Chalmel F., Primig M.;
RT   "Combining RNA and protein profiling data with network interactions
RT   identifies genes associated with spermatogenesis in mouse and human.";
RL   Biol. Reprod. 92:71-71(2015).
CC   -!- FUNCTION: May be involved in RNA biogenesis.
CC       {ECO:0000269|PubMed:17103222}.
CC   -!- SUBUNIT: Interacts (via N-terminus) with RAB2B (in GTP-bound form) (By
CC       similarity). Interacts with FRG1 (PubMed:17103222).
CC       {ECO:0000250|UniProtKB:Q5STT6, ECO:0000269|PubMed:17103222}.
CC   -!- SUBCELLULAR LOCATION: Golgi apparatus {ECO:0000250|UniProtKB:Q5STT6}.
CC       Nucleus, Cajal body {ECO:0000269|PubMed:17103222}.
CC   -!- TISSUE SPECIFICITY: Expressed in adult spermatocytes and spermatids (at
CC       protein level). {ECO:0000269|PubMed:25609838}.
CC   -!- SIMILARITY: Belongs to the GARIN family. {ECO:0000305}.
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DR   EMBL; AK057543; BAB71526.1; -; mRNA.
DR   EMBL; AY973323; AAY41236.1; -; mRNA.
DR   EMBL; BC022035; AAH22035.1; -; mRNA.
DR   EMBL; BC025397; AAH25397.1; -; mRNA.
DR   EMBL; BC025409; AAH25409.1; -; mRNA.
DR   EMBL; BC025998; AAH25998.1; -; mRNA.
DR   CCDS; CCDS4335.1; -.
DR   RefSeq; NP_570969.2; NM_130899.2.
DR   AlphaFoldDB; Q8TC56; -.
DR   BioGRID; 127515; 3.
DR   IntAct; Q8TC56; 1.
DR   MINT; Q8TC56; -.
DR   STRING; 9606.ENSP00000305596; -.
DR   GlyGen; Q8TC56; 3 sites, 1 O-linked glycan (3 sites).
DR   iPTMnet; Q8TC56; -.
DR   PhosphoSitePlus; Q8TC56; -.
DR   BioMuta; FAM71B; -.
DR   DMDM; 146286168; -.
DR   MassIVE; Q8TC56; -.
DR   PaxDb; 9606-ENSP00000305596; -.
DR   PeptideAtlas; Q8TC56; -.
DR   ProteomicsDB; 74089; -.
DR   Antibodypedia; 28391; 46 antibodies from 11 providers.
DR   DNASU; 153745; -.
DR   Ensembl; ENST00000302938.4; ENSP00000305596.4; ENSG00000170613.4.
DR   GeneID; 153745; -.
DR   KEGG; hsa:153745; -.
DR   MANE-Select; ENST00000302938.4; ENSP00000305596.4; NM_130899.3; NP_570969.2.
DR   UCSC; uc003lwn.4; human.
DR   AGR; HGNC:28397; -.
DR   CTD; 153745; -.
DR   GeneCards; GARIN3; -.
DR   HGNC; HGNC:28397; GARIN3.
DR   HPA; ENSG00000170613; Tissue enriched (testis).
DR   MIM; 619883; gene.
DR   neXtProt; NX_Q8TC56; -.
DR   OpenTargets; ENSG00000170613; -.
DR   VEuPathDB; HostDB:ENSG00000170613; -.
DR   eggNOG; ENOG502S0XQ; Eukaryota.
DR   GeneTree; ENSGT00940000162063; -.
DR   HOGENOM; CLU_035424_0_0_1; -.
DR   InParanoid; Q8TC56; -.
DR   OMA; TREDLFC; -.
DR   OrthoDB; 4589933at2759; -.
DR   PhylomeDB; Q8TC56; -.
DR   TreeFam; TF336050; -.
DR   PathwayCommons; Q8TC56; -.
DR   SignaLink; Q8TC56; -.
DR   BioGRID-ORCS; 153745; 4 hits in 1142 CRISPR screens.
DR   GenomeRNAi; 153745; -.
DR   Pharos; Q8TC56; Tdark.
DR   PRO; PR:Q8TC56; -.
DR   Proteomes; UP000005640; Chromosome 5.
DR   RNAct; Q8TC56; Protein.
DR   Bgee; ENSG00000170613; Expressed in male germ line stem cell (sensu Vertebrata) in testis and 21 other cell types or tissues.
DR   ExpressionAtlas; Q8TC56; baseline and differential.
DR   GO; GO:0015030; C:Cajal body; IEA:UniProtKB-SubCell.
DR   GO; GO:0005794; C:Golgi apparatus; ISS:UniProtKB.
DR   GO; GO:0005634; C:nucleus; HDA:UniProtKB.
DR   InterPro; IPR022168; GARIL-like_Rab2B-bd.
DR   PANTHER; PTHR22574:SF2; GOLGI ASSOCIATED RAB2 INTERACTOR PROTEIN 3; 1.
DR   PANTHER; PTHR22574; UNCHARACTERIZED; 1.
DR   Pfam; PF12480; GARIL_Rab2_bd; 1.
DR   Genevisible; Q8TC56; HS.
PE   1: Evidence at protein level;
KW   Golgi apparatus; Nucleus; Phosphoprotein; Reference proteome.
FT   CHAIN           1..605
FT                   /note="Golgi-associated RAB2 interactor protein 3"
FT                   /id="PRO_0000285643"
FT   REGION          234..265
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   REGION          407..529
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   MOTIF           441..458
FT                   /note="Bipartite nuclear localization signal"
FT                   /evidence="ECO:0000255"
FT   COMPBIAS        242..258
FT                   /note="Polar residues"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   COMPBIAS        407..424
FT                   /note="Polar residues"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   COMPBIAS        435..453
FT                   /note="Basic residues"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   COMPBIAS        471..489
FT                   /note="Basic and acidic residues"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   COMPBIAS        514..529
FT                   /note="Polar residues"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   MOD_RES         592
FT                   /note="Phosphoserine"
FT                   /evidence="ECO:0000250|UniProtKB:Q66H38"
FT   VARIANT         543
FT                   /note="A -> V (in dbSNP:rs17852327)"
FT                   /evidence="ECO:0000269|PubMed:15489334"
FT                   /id="VAR_032036"
FT   VARIANT         564
FT                   /note="M -> T (in dbSNP:rs31208)"
FT                   /evidence="ECO:0000269|PubMed:14702039,
FT                   ECO:0000269|PubMed:15489334"
FT                   /id="VAR_032037"
FT   VARIANT         599
FT                   /note="V -> I (in dbSNP:rs2115480)"
FT                   /id="VAR_032038"
FT   CONFLICT        280
FT                   /note="T -> A (in Ref. 2; AAY41236)"
FT                   /evidence="ECO:0000305"
SQ   SEQUENCE   605 AA;  64756 MW;  84BF94215309E38A CRC64;
     MSNESCLPYY TAHSYSSMSA FKTSMGDLQR QLYNRGEYNI FKYAPMFESN FIQINKKGEV
     IDVHNRVRMV TVGIVCTSPI LPLPDVMVLA QPTKICEQHV RWGRFAKGRG RRPVKTLELT
     RLLPLKFVKI SIHDHEKQQL RLKLATGRTF YLQLCPSSDT REDLFCYWEK LVYLLRPPVE
     SYCSTPTLLS GDAPPEDNKS LVAAELHREG DQSETGLYKP CDVSAATSSA YAGGEGIQHA
     SHGTASAASP STSTPGAAEG GAARTAGGMA VAGTATGPRT DVAIAGAAMS PATGAMSIAT
     TKSAGPGQVT TALAGAAIKN PGENESSKSM AGAANISSEG ISLALVGAAS TSLEGTSTSM
     AGAASLSQDS SLSAAFAGSI TTSKCAAERT EGPAVGPLIS TLQSEGYMSE RDGSQKVSQP
     SAEVWNENKE RREKKDRHPS RKSSHHRKAG ESHRRRAGDK NQKASSHRSA SGHKNTRDDK
     KEKGYSNVRG KRHGSSRKSS THSSTKKESR TTQELGKNQS ASSTGALQKK ASKISSFLRS
     LRATPGSKTR VTSHDREVDI VAKMVEKQNI EAKVEKAQGG QELEMISGTM TSEKTEMIVF
     ETKSI
//