GAR6_HUMAN
ID GAR6_HUMAN Reviewed; 241 AA.
AC Q8NEG0; B2R6Y6;
DT 12-DEC-2006, integrated into UniProtKB/Swiss-Prot.
DT 01-OCT-2002, sequence version 1.
DT 03-AUG-2022, entry version 116.
DE RecName: Full=Golgi associated RAB2 interactor protein 6 {ECO:0000305};
GN Name=GARIN6 {ECO:0000312|HGNC:HGNC:28594}; Synonyms=FAM71C;
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].
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;
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 -!- INTERACTION:
CC Q8NEG0; Q8N9N5: BANP; NbExp=3; IntAct=EBI-752049, EBI-744695;
CC Q8NEG0; A8MQ03: CYSRT1; NbExp=3; IntAct=EBI-752049, EBI-3867333;
CC Q8NEG0; Q13643: FHL3; NbExp=3; IntAct=EBI-752049, EBI-741101;
CC Q8NEG0; Q5TD97: FHL5; NbExp=5; IntAct=EBI-752049, EBI-750641;
CC Q8NEG0; Q15323: KRT31; NbExp=6; IntAct=EBI-752049, EBI-948001;
CC Q8NEG0; O76011: KRT34; NbExp=3; IntAct=EBI-752049, EBI-1047093;
CC Q8NEG0; Q6A162: KRT40; NbExp=3; IntAct=EBI-752049, EBI-10171697;
CC Q8NEG0; Q07627: KRTAP1-1; NbExp=3; IntAct=EBI-752049, EBI-11959885;
CC Q8NEG0; P60410: KRTAP10-8; NbExp=3; IntAct=EBI-752049, EBI-10171774;
CC Q8NEG0; Q9BYR7: KRTAP3-2; NbExp=3; IntAct=EBI-752049, EBI-751260;
CC Q8NEG0; Q7Z3S9: NOTCH2NLA; NbExp=3; IntAct=EBI-752049, EBI-945833;
CC Q8NEG0; P0DPK4: NOTCH2NLC; NbExp=3; IntAct=EBI-752049, EBI-22310682;
CC Q8NEG0; P07237: P4HB; NbExp=3; IntAct=EBI-752049, EBI-395883;
CC Q8NEG0; Q9NR12: PDLIM7; NbExp=3; IntAct=EBI-752049, EBI-350517;
CC Q8NEG0; P61106: RAB14; NbExp=3; IntAct=EBI-752049, EBI-1056404;
CC Q8NEG0; P61019: RAB2A; NbExp=7; IntAct=EBI-752049, EBI-752037;
CC Q8NEG0; Q8WUD1: RAB2B; NbExp=8; IntAct=EBI-752049, EBI-5542466;
CC Q8NEG0; P20338: RAB4A; NbExp=3; IntAct=EBI-752049, EBI-722284;
CC Q8NEG0; P61018: RAB4B; NbExp=3; IntAct=EBI-752049, EBI-10218066;
CC -!- SIMILARITY: Belongs to the GARIN family. {ECO:0000305}.
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DR EMBL; AK312767; BAG35633.1; -; mRNA.
DR EMBL; BC031221; AAH31221.1; -; mRNA.
DR CCDS; CCDS9072.1; -.
DR RefSeq; NP_699195.1; NM_153364.3.
DR AlphaFoldDB; Q8NEG0; -.
DR BioGRID; 128210; 20.
DR IntAct; Q8NEG0; 22.
DR MINT; Q8NEG0; -.
DR STRING; 9606.ENSP00000315247; -.
DR BioMuta; FAM71C; -.
DR DMDM; 74730248; -.
DR MassIVE; Q8NEG0; -.
DR PaxDb; Q8NEG0; -.
DR PeptideAtlas; Q8NEG0; -.
DR PRIDE; Q8NEG0; -.
DR ProteomicsDB; 73160; -.
DR Antibodypedia; 51045; 38 antibodies from 9 providers.
DR DNASU; 196472; -.
DR Ensembl; ENST00000324341.2; ENSP00000315247.1; ENSG00000180219.2.
DR GeneID; 196472; -.
DR KEGG; hsa:196472; -.
DR MANE-Select; ENST00000324341.2; ENSP00000315247.1; NM_153364.4; NP_699195.1.
DR UCSC; uc001tgn.4; human.
DR CTD; 196472; -.
DR GeneCards; FAM71C; -.
DR HGNC; HGNC:28594; GARIN6.
DR HPA; ENSG00000180219; Tissue enriched (testis).
DR neXtProt; NX_Q8NEG0; -.
DR OpenTargets; ENSG00000180219; -.
DR VEuPathDB; HostDB:ENSG00000180219; -.
DR eggNOG; ENOG502RWWU; Eukaryota.
DR GeneTree; ENSGT00940000163320; -.
DR HOGENOM; CLU_100265_0_0_1; -.
DR InParanoid; Q8NEG0; -.
DR OMA; HWENLIY; -.
DR OrthoDB; 982161at2759; -.
DR PhylomeDB; Q8NEG0; -.
DR TreeFam; TF336050; -.
DR PathwayCommons; Q8NEG0; -.
DR SignaLink; Q8NEG0; -.
DR BioGRID-ORCS; 196472; 5 hits in 1068 CRISPR screens.
DR GenomeRNAi; 196472; -.
DR Pharos; Q8NEG0; Tdark.
DR PRO; PR:Q8NEG0; -.
DR Proteomes; UP000005640; Chromosome 12.
DR RNAct; Q8NEG0; protein.
DR Bgee; ENSG00000180219; Expressed in sperm and 22 other tissues.
DR Genevisible; Q8NEG0; HS.
DR InterPro; IPR022168; DUF3699.
DR Pfam; PF12480; DUF3699; 1.
PE 1: Evidence at protein level;
KW Reference proteome.
FT CHAIN 1..241
FT /note="Golgi associated RAB2 interactor protein 6"
FT /id="PRO_0000266044"
FT VARIANT 30
FT /note="R -> G (in dbSNP:rs11109968)"
FT /id="VAR_029638"
FT VARIANT 71
FT /note="M -> V (in dbSNP:rs11109969)"
FT /id="VAR_029639"
FT CONFLICT 220
FT /note="I -> V (in Ref. 1; BAG35633)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 241 AA; 27472 MW; AF69C82913202B09 CRC64;
MEDCCMLPYY TAQSSPAMGM FNTSMGKLQR QLYKGEYTIF RYAPMFESDF IQISKRGEVI
DVHNRARMVT MGIVRTSPCL TLPDVMLLAR PAAVCDNARC GPATQKRESP PAEILELTRL
LPLMFVKITI HNSVKKQLHL KLATGRSFYL QLCPPSDASE DLFVHWENLV YILRPPVEAY
SDTRAILAGN TLDSSVLEEV QRSPVGYAMK FCEEKEQFRI SRLHMNAEMF GSTYCDYTIE
I