GAR3_HUMAN
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 03-AUG-2022, entry version 116.
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; 2.
DR IntAct; Q8TC56; 2.
DR MINT; Q8TC56; -.
DR STRING; 9606.ENSP00000305596; -.
DR iPTMnet; Q8TC56; -.
DR PhosphoSitePlus; Q8TC56; -.
DR BioMuta; FAM71B; -.
DR DMDM; 146286168; -.
DR MassIVE; Q8TC56; -.
DR PaxDb; Q8TC56; -.
DR PeptideAtlas; Q8TC56; -.
DR PRIDE; Q8TC56; -.
DR ProteomicsDB; 74089; -.
DR Antibodypedia; 28391; 45 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 CTD; 153745; -.
DR GeneCards; FAM71B; -.
DR HGNC; HGNC:28397; GARIN3.
DR HPA; ENSG00000170613; Tissue enriched (testis).
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; 982161at2759; -.
DR PhylomeDB; Q8TC56; -.
DR TreeFam; TF336050; -.
DR PathwayCommons; Q8TC56; -.
DR SignaLink; Q8TC56; -.
DR BioGRID-ORCS; 153745; 4 hits in 1064 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 sperm and 20 other tissues.
DR ExpressionAtlas; Q8TC56; baseline and differential.
DR Genevisible; Q8TC56; HS.
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; DUF3699.
DR Pfam; PF12480; DUF3699; 1.
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
