GAR2_HUMAN
ID GAR2_HUMAN Reviewed; 422 AA.
AC Q8N9W8; Q86VN4;
DT 16-JAN-2004, integrated into UniProtKB/Swiss-Prot.
DT 17-OCT-2006, sequence version 2.
DT 03-AUG-2022, entry version 142.
DE RecName: Full=Golgi associated RAB2 interactor protein 2 {ECO:0000305};
GN Name=GARIN2 {ECO:0000312|HGNC:HGNC:20101}; Synonyms=C14orf54, FAM71D;
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] (ISOFORM 1).
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] (ISOFORM 2).
RC TISSUE=Brain;
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, AND TISSUE SPECIFICITY.
RX PubMed=29025071; DOI=10.1093/humrep/dex290;
RA Ma Q., Li Y., Luo M., Guo H., Lin S., Chen J., Du Y., Jiang Z., Gui Y.;
RT "The expression characteristics of FAM71D and its association with sperm
RT motility.";
RL Hum. Reprod. 32:2178-2187(2017).
CC -!- FUNCTION: Seems to play a role in sperm motility.
CC {ECO:0000305|PubMed:29025071}.
CC -!- SUBUNIT: Interacts with CALM1. {ECO:0000250|UniProtKB:D3YV92}.
CC -!- SUBCELLULAR LOCATION: Cell projection, cilium, flagellum
CC {ECO:0000250|UniProtKB:D3YV92}. Note=In mature sperm, localizes in the
CC midpiece of flagella. {ECO:0000250|UniProtKB:D3YV92}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q8N9W8-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q8N9W8-2; Sequence=VSP_009298;
CC -!- TISSUE SPECIFICITY: Expressed in spermatozoa (at protein level).
CC {ECO:0000269|PubMed:29025071}.
CC -!- SIMILARITY: Belongs to the GARIN family. {ECO:0000305}.
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DR EMBL; AK093449; BAC04169.1; -; mRNA.
DR EMBL; BC050401; AAH50401.1; -; mRNA.
DR CCDS; CCDS9778.1; -. [Q8N9W8-1]
DR RefSeq; NP_775797.2; NM_173526.3. [Q8N9W8-1]
DR RefSeq; XP_011534802.1; XM_011536500.1. [Q8N9W8-1]
DR RefSeq; XP_011534804.1; XM_011536502.1.
DR RefSeq; XP_011534805.1; XM_011536503.2. [Q8N9W8-1]
DR AlphaFoldDB; Q8N9W8; -.
DR BioGRID; 127772; 11.
DR IntAct; Q8N9W8; 2.
DR STRING; 9606.ENSP00000483154; -.
DR iPTMnet; Q8N9W8; -.
DR PhosphoSitePlus; Q8N9W8; -.
DR BioMuta; FAM71D; -.
DR DMDM; 116241304; -.
DR jPOST; Q8N9W8; -.
DR MassIVE; Q8N9W8; -.
DR PaxDb; Q8N9W8; -.
DR PeptideAtlas; Q8N9W8; -.
DR PRIDE; Q8N9W8; -.
DR ProteomicsDB; 72604; -. [Q8N9W8-1]
DR ProteomicsDB; 72605; -. [Q8N9W8-2]
DR Antibodypedia; 68; 41 antibodies from 12 providers.
DR DNASU; 161142; -.
DR Ensembl; ENST00000311864.7; ENSP00000431905.1; ENSG00000172717.16. [Q8N9W8-1]
DR Ensembl; ENST00000534174.5; ENSP00000432195.1; ENSG00000172717.16. [Q8N9W8-2]
DR Ensembl; ENST00000612183.4; ENSP00000483154.1; ENSG00000172717.16. [Q8N9W8-1]
DR GeneID; 161142; -.
DR KEGG; hsa:161142; -.
DR UCSC; uc001xja.2; human. [Q8N9W8-1]
DR CTD; 161142; -.
DR DisGeNET; 161142; -.
DR GeneCards; FAM71D; -.
DR HGNC; HGNC:20101; GARIN2.
DR HPA; ENSG00000172717; Tissue enriched (testis).
DR neXtProt; NX_Q8N9W8; -.
DR OpenTargets; ENSG00000172717; -.
DR VEuPathDB; HostDB:ENSG00000172717; -.
DR eggNOG; ENOG502S1VC; Eukaryota.
DR GeneTree; ENSGT00940000161537; -.
DR HOGENOM; CLU_055234_0_0_1; -.
DR InParanoid; Q8N9W8; -.
DR OMA; STMRINK; -.
DR OrthoDB; 1402381at2759; -.
DR PhylomeDB; Q8N9W8; -.
DR PathwayCommons; Q8N9W8; -.
DR SignaLink; Q8N9W8; -.
DR BioGRID-ORCS; 161142; 9 hits in 1018 CRISPR screens.
DR GenomeRNAi; 161142; -.
DR Pharos; Q8N9W8; Tdark.
DR PRO; PR:Q8N9W8; -.
DR Proteomes; UP000005640; Chromosome 14.
DR RNAct; Q8N9W8; protein.
DR Bgee; ENSG00000172717; Expressed in left testis and 96 other tissues.
DR ExpressionAtlas; Q8N9W8; baseline and differential.
DR Genevisible; Q8N9W8; HS.
DR GO; GO:0097225; C:sperm midpiece; ISS:UniProtKB.
DR GO; GO:0030317; P:flagellated sperm motility; ISS:UniProtKB.
DR InterPro; IPR022168; DUF3699.
DR Pfam; PF12480; DUF3699; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Cell projection; Cilium; Flagellum;
KW Reference proteome.
FT CHAIN 1..422
FT /note="Golgi associated RAB2 interactor protein 2"
FT /id="PRO_0000089895"
FT REGION 353..404
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 359..373
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 322..343
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_009298"
FT CONFLICT 92
FT /note="L -> P (in Ref. 1; BAC04169)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 422 AA; 47076 MW; EDD1E7A0ADED9C8F CRC64;
MKKNTSKTTM RINKQDALCT PHSHDPRDLQ NMLDGGEYAP FVSPPMLESN FIQVNRRGES
IYLHNRANWV TVGICFSSST HKIPNVMLLA HLTPGAQKDT ETLFKSLLTS PPAEKLVLTR
FLPLQFVTLS VHDAENMSLK VKLVSGRAYY LQLCTSAYKQ DTLFSQWVAL ISLLNQEKAK
VSKVSEVSSL SGITNSTDIT GSMDVTDVTT FTAILTPYMY AGTGPEHVRD SIDFPEFTDI
TDITDVTDLP ENEVPEVPDV RIVTEVIEVR EATEVTDSSD ITNCSGVTVV FENNDLIRAK
QEEKEKLKNI LKPGCLQDTK SKSELKESSK HVTISNITLT FEGKRYFQTT LTPVESEANT
SKEMKDKTSE EKMPDFQSTA LKAEESRSLR TESNTSVLSP HIKSPSNFLK LVPHLSAPFS
RE
