GAR1B_HUMAN
ID GAR1B_HUMAN Reviewed; 344 AA.
AC Q96KD3; Q8IY75; Q8NA48;
DT 04-DEC-2007, integrated into UniProtKB/Swiss-Prot.
DT 01-DEC-2001, sequence version 1.
DT 03-AUG-2022, entry version 117.
DE RecName: Full=Golgi associated RAB2 interactor protein 1B {ECO:0000305};
DE AltName: Full=Testis development protein NYD-SP18;
GN Name=GARIN1B {ECO:0000312|HGNC:HGNC:30704}; Synonyms=FAM137A, FAM71F1;
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 [MRNA] (ISOFORM 1).
RC TISSUE=Testis;
RA Sha J.H., Li J.M., Zhou Z.M.;
RT "A new testis development gene NYD-SP18 from human testes.";
RL Submitted (APR-2001) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
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 [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=12853948; DOI=10.1038/nature01782;
RA Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H.,
RA Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R., Wylie K.,
RA Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E., Fewell G.A.,
RA Delehaunty K.D., Miner T.L., Nash W.E., Cordes M., Du H., Sun H.,
RA Edwards J., Bradshaw-Cordum H., Ali J., Andrews S., Isak A., Vanbrunt A.,
RA Nguyen C., Du F., Lamar B., Courtney L., Kalicki J., Ozersky P.,
RA Bielicki L., Scott K., Holmes A., Harkins R., Harris A., Strong C.M.,
RA Hou S., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Leonard S.,
RA Rohlfing T., Rock S.M., Tin-Wollam A.-M., Abbott A., Minx P., Maupin R.,
RA Strowmatt C., Latreille P., Miller N., Johnson D., Murray J.,
RA Woessner J.P., Wendl M.C., Yang S.-P., Schultz B.R., Wallis J.W.,
RA Spieth J., Bieri T.A., Nelson J.O., Berkowicz N., Wohldmann P.E.,
RA Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Bedell J.A.,
RA Mardis E.R., Clifton S.W., Chissoe S.L., Marra M.A., Raymond C., Haugen E.,
RA Gillett W., Zhou Y., James R., Phelps K., Iadanoto S., Bubb K., Simms E.,
RA Levy R., Clendenning J., Kaul R., Kent W.J., Furey T.S., Baertsch R.A.,
RA Brent M.R., Keibler E., Flicek P., Bork P., Suyama M., Bailey J.A.,
RA Portnoy M.E., Torrents D., Chinwalla A.T., Gish W.R., Eddy S.R.,
RA McPherson J.D., Olson M.V., Eichler E.E., Green E.D., Waterston R.H.,
RA Wilson R.K.;
RT "The DNA sequence of human chromosome 7.";
RL Nature 424:157-164(2003).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [5]
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).
CC -!- FUNCTION: RAB2B effector protein required for accurate acrosome
CC formation and normal male fertility. In complex with RAB2A/RAB2B, seems
CC to suppress excessive vesicle trafficking during acrosome formation.
CC {ECO:0000250|UniProtKB:Q3UZD7}.
CC -!- INTERACTION:
CC Q96KD3-2; Q9Y250: LZTS1; NbExp=3; IntAct=EBI-6448805, EBI-1216080;
CC -!- SUBCELLULAR LOCATION: Golgi apparatus {ECO:0000250|UniProtKB:Q3UZD7}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q96KD3-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q96KD3-2; Sequence=VSP_029580;
CC Name=3;
CC IsoId=Q96KD3-3; Sequence=VSP_055270, VSP_055271, VSP_029580;
CC -!- SIMILARITY: Belongs to the GARIN family. {ECO:0000305}.
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DR EMBL; AF367470; AAK53406.1; -; mRNA.
DR EMBL; AK093161; BAC04080.1; -; mRNA.
DR EMBL; AC018638; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC024952; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471070; EAW83668.1; -; Genomic_DNA.
DR EMBL; CH471070; EAW83670.1; -; Genomic_DNA.
DR EMBL; CH471070; EAW83672.1; -; Genomic_DNA.
DR EMBL; BC037248; AAH37248.1; -; mRNA.
DR CCDS; CCDS5804.1; -. [Q96KD3-1]
DR CCDS; CCDS64763.1; -. [Q96KD3-3]
DR RefSeq; NP_001269717.1; NM_001282788.1. [Q96KD3-2]
DR RefSeq; NP_001269718.1; NM_001282789.1. [Q96KD3-3]
DR RefSeq; NP_115988.1; NM_032599.3. [Q96KD3-1]
DR AlphaFoldDB; Q96KD3; -.
DR BioGRID; 124206; 13.
DR IntAct; Q96KD3; 2.
DR STRING; 9606.ENSP00000326652; -.
DR iPTMnet; Q96KD3; -.
DR PhosphoSitePlus; Q96KD3; -.
DR BioMuta; FAM71F1; -.
DR DMDM; 74716898; -.
DR PaxDb; Q96KD3; -.
DR PRIDE; Q96KD3; -.
DR ProteomicsDB; 72637; -.
DR Antibodypedia; 17801; 39 antibodies from 11 providers.
DR DNASU; 84691; -.
DR Ensembl; ENST00000315184.9; ENSP00000326652.4; ENSG00000135248.16. [Q96KD3-1]
DR Ensembl; ENST00000485070.5; ENSP00000418192.1; ENSG00000135248.16. [Q96KD3-3]
DR Ensembl; ENST00000621392.5; ENSP00000477573.2; ENSG00000135248.16. [Q96KD3-2]
DR GeneID; 84691; -.
DR KEGG; hsa:84691; -.
DR MANE-Select; ENST00000621392.5; ENSP00000477573.2; NM_001282788.3; NP_001269717.1. [Q96KD3-2]
DR UCSC; uc003vnn.2; human. [Q96KD3-1]
DR CTD; 84691; -.
DR DisGeNET; 84691; -.
DR GeneCards; FAM71F1; -.
DR HGNC; HGNC:30704; GARIN1B.
DR HPA; ENSG00000135248; Tissue enriched (testis).
DR neXtProt; NX_Q96KD3; -.
DR OpenTargets; ENSG00000135248; -.
DR VEuPathDB; HostDB:ENSG00000135248; -.
DR eggNOG; ENOG502S7XV; Eukaryota.
DR GeneTree; ENSGT00940000161477; -.
DR HOGENOM; CLU_1142281_0_0_1; -.
DR InParanoid; Q96KD3; -.
DR OMA; PDHPQTV; -.
DR PhylomeDB; Q96KD3; -.
DR TreeFam; TF336050; -.
DR PathwayCommons; Q96KD3; -.
DR SignaLink; Q96KD3; -.
DR BioGRID-ORCS; 84691; 6 hits in 1059 CRISPR screens.
DR GenomeRNAi; 84691; -.
DR Pharos; Q96KD3; Tdark.
DR PRO; PR:Q96KD3; -.
DR Proteomes; UP000005640; Chromosome 7.
DR RNAct; Q96KD3; protein.
DR Bgee; ENSG00000135248; Expressed in sperm and 100 other tissues.
DR ExpressionAtlas; Q96KD3; baseline and differential.
DR Genevisible; Q96KD3; HS.
DR GO; GO:0005794; C:Golgi apparatus; ISS:UniProtKB.
DR GO; GO:0001675; P:acrosome assembly; ISS:UniProtKB.
DR GO; GO:0007340; P:acrosome reaction; ISS:UniProtKB.
DR InterPro; IPR022168; DUF3699.
DR Pfam; PF12480; DUF3699; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Golgi apparatus; Reference proteome.
FT CHAIN 1..344
FT /note="Golgi associated RAB2 interactor protein 1B"
FT /id="PRO_0000311691"
FT REGION 271..293
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 279..293
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 1..66
FT /note="MLSSFPHRKTWRKSKKTVKVTRSYPTFPSLNAWEEFRGLLPVDGEPNPGAGL
FT GVEEGLLCRVVHSP -> MELDGQKGQELERRLQSFQHHGPGGDLLGTLPAPPQHPTHG
FT QCQMAPGAEPDMEQTIHSPQHLPEE (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_055270"
FT VAR_SEQ 67..165
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_055271"
FT VAR_SEQ 270..271
FT /note="Missing (in isoform 2 and isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039,
FT ECO:0000303|PubMed:15489334"
FT /id="VSP_029580"
FT VARIANT 228
FT /note="S -> L (in dbSNP:rs6949056)"
FT /id="VAR_037271"
FT VARIANT 242
FT /note="E -> K (in dbSNP:rs6971091)"
FT /id="VAR_037272"
SQ SEQUENCE 344 AA; 38946 MW; 94CCE9753A43058A CRC64;
MLSSFPHRKT WRKSKKTVKV TRSYPTFPSL NAWEEFRGLL PVDGEPNPGA GLGVEEGLLC
RVVHSPEFNL FLDSVVFESN FIQVKRGRNW RDVYKASNTM ALGVTSSVPC LPLPNILLMA
SVKWHQGQNQ TWNRPSIAPN IFLKRILPLR FVELQVCDHY QRILQLRTVT EKIYYLKLHP
DHPETVFHFW IRLVQILQKG LSITTKDPRI LVTHCLVPKN CSSPSGDSKL VQKKLQASQP
SESLIQLMTK GESEALSQIF ADLHQQNQLS FRSSRKVETN KNSSGKDSSR EDSIPCTCDL
RWRASFTYGE WERENPSGLQ PLSLLSTLAA STGPQLAPPI GNSI
