GAR1A_HUMAN
ID GAR1A_HUMAN Reviewed; 309 AA.
AC Q6NXP2; Q0VGF6; Q0VGF7; Q86X39;
DT 13-NOV-2007, integrated into UniProtKB/Swiss-Prot.
DT 18-MAY-2010, sequence version 3.
DT 03-AUG-2022, entry version 117.
DE RecName: Full=Golgi associated RAB2 interactor protein 1A {ECO:0000305};
GN Name=GARIN1A {ECO:0000312|HGNC:HGNC:27998}; Synonyms=FAM137B, FAM71F2;
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 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 [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], AND VARIANT VAL-114.
RX PubMed=12690205; DOI=10.1126/science.1083423;
RA Scherer S.W., Cheung J., MacDonald J.R., Osborne L.R., Nakabayashi K.,
RA Herbrick J.-A., Carson A.R., Parker-Katiraee L., Skaug J., Khaja R.,
RA Zhang J., Hudek A.K., Li M., Haddad M., Duggan G.E., Fernandez B.A.,
RA Kanematsu E., Gentles S., Christopoulos C.C., Choufani S., Kwasnicka D.,
RA Zheng X.H., Lai Z., Nusskern D.R., Zhang Q., Gu Z., Lu F., Zeesman S.,
RA Nowaczyk M.J., Teshima I., Chitayat D., Shuman C., Weksberg R.,
RA Zackai E.H., Grebe T.A., Cox S.R., Kirkpatrick S.J., Rahman N.,
RA Friedman J.M., Heng H.H.Q., Pelicci P.G., Lo-Coco F., Belloni E.,
RA Shaffer L.G., Pober B., Morton C.C., Gusella J.F., Bruns G.A.P., Korf B.R.,
RA Quade B.J., Ligon A.H., Ferguson H., Higgins A.W., Leach N.T.,
RA Herrick S.R., Lemyre E., Farra C.G., Kim H.-G., Summers A.M., Gripp K.W.,
RA Roberts W., Szatmari P., Winsor E.J.T., Grzeschik K.-H., Teebi A.,
RA Minassian B.A., Kere J., Armengol L., Pujana M.A., Estivill X.,
RA Wilson M.D., Koop B.F., Tosi S., Moore G.E., Boright A.P., Zlotorynski E.,
RA Kerem B., Kroisel P.M., Petek E., Oscier D.G., Mould S.J., Doehner H.,
RA Doehner K., Rommens J.M., Vincent J.B., Venter J.C., Li P.W., Mural R.J.,
RA Adams M.D., Tsui L.-C.;
RT "Human chromosome 7: DNA sequence and biology.";
RL Science 300:767-772(2003).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2), AND VARIANTS
RP THR-112; VAL-114; TRP-136 AND VAL-251.
RC TISSUE=Brain, and 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 -!- FUNCTION: RAB2B effector protein required for accurate acrosome
CC formation and normal male fertility. {ECO:0000250|UniProtKB:B2RXB0}.
CC -!- SUBUNIT: Interacts (via N-terminus) with RAB2B (in GTP-bound form).
CC {ECO:0000250|UniProtKB:B2RXB0}.
CC -!- INTERACTION:
CC Q6NXP2-2; P61019: RAB2A; NbExp=4; IntAct=EBI-12925824, EBI-752037;
CC Q6NXP2-2; Q8WUD1: RAB2B; NbExp=6; IntAct=EBI-12925824, EBI-5542466;
CC -!- SUBCELLULAR LOCATION: Golgi apparatus {ECO:0000250|UniProtKB:B2RXB0}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q6NXP2-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q6NXP2-2; Sequence=VSP_029581;
CC -!- SIMILARITY: Belongs to the GARIN family. {ECO:0000305}.
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DR EMBL; AC018638; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC093183; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH236950; EAL24114.1; -; Genomic_DNA.
DR EMBL; BC047310; AAH47310.2; -; mRNA.
DR EMBL; BC066973; AAH66973.2; -; mRNA.
DR EMBL; BC105729; AAI05730.1; -; mRNA.
DR EMBL; BC105730; AAI05731.1; -; mRNA.
DR EMBL; BC105731; AAI05732.1; -; mRNA.
DR CCDS; CCDS47701.1; -. [Q6NXP2-1]
DR CCDS; CCDS47702.1; -. [Q6NXP2-2]
DR RefSeq; NP_001012457.3; NM_001012454.5. [Q6NXP2-1]
DR RefSeq; NP_001122398.1; NM_001128926.3. [Q6NXP2-2]
DR RefSeq; XP_011514430.1; XM_011516128.2. [Q6NXP2-1]
DR RefSeq; XP_011514431.1; XM_011516129.2. [Q6NXP2-1]
DR RefSeq; XP_011514432.1; XM_011516130.2. [Q6NXP2-1]
DR RefSeq; XP_011514433.1; XM_011516131.2. [Q6NXP2-1]
DR RefSeq; XP_011514434.1; XM_011516132.2. [Q6NXP2-2]
DR AlphaFoldDB; Q6NXP2; -.
DR BioGRID; 131394; 4.
DR IntAct; Q6NXP2; 2.
DR STRING; 9606.ENSP00000420140; -.
DR PhosphoSitePlus; Q6NXP2; -.
DR BioMuta; FAM71F2; -.
DR DMDM; 296439354; -.
DR MassIVE; Q6NXP2; -.
DR PaxDb; Q6NXP2; -.
DR PeptideAtlas; Q6NXP2; -.
DR PRIDE; Q6NXP2; -.
DR Antibodypedia; 9588; 42 antibodies from 14 providers.
DR DNASU; 346653; -.
DR Ensembl; ENST00000641605.1; ENSP00000493102.1; ENSG00000205085.13. [Q6NXP2-1]
DR Ensembl; ENST00000641888.1; ENSP00000493352.1; ENSG00000205085.13. [Q6NXP2-2]
DR Ensembl; ENST00000641987.1; ENSP00000493021.1; ENSG00000205085.13. [Q6NXP2-2]
DR Ensembl; ENST00000682356.1; ENSP00000506740.1; ENSG00000205085.13. [Q6NXP2-2]
DR GeneID; 346653; -.
DR KEGG; hsa:346653; -.
DR MANE-Select; ENST00000682356.1; ENSP00000506740.1; NM_001128926.4; NP_001122398.1. [Q6NXP2-2]
DR UCSC; uc003vnk.6; human. [Q6NXP2-1]
DR CTD; 346653; -.
DR DisGeNET; 346653; -.
DR GeneCards; FAM71F2; -.
DR HGNC; HGNC:27998; GARIN1A.
DR HPA; ENSG00000205085; Tissue enriched (testis).
DR neXtProt; NX_Q6NXP2; -.
DR OpenTargets; ENSG00000205085; -.
DR VEuPathDB; HostDB:ENSG00000205085; -.
DR eggNOG; ENOG502S7XV; Eukaryota.
DR GeneTree; ENSGT00940000162027; -.
DR HOGENOM; CLU_069391_1_0_1; -.
DR InParanoid; Q6NXP2; -.
DR OMA; RIEFTHC; -.
DR OrthoDB; 1360447at2759; -.
DR PhylomeDB; Q6NXP2; -.
DR TreeFam; TF336050; -.
DR PathwayCommons; Q6NXP2; -.
DR SignaLink; Q6NXP2; -.
DR BioGRID-ORCS; 346653; 15 hits in 1076 CRISPR screens.
DR GenomeRNAi; 346653; -.
DR Pharos; Q6NXP2; Tdark.
DR PRO; PR:Q6NXP2; -.
DR Proteomes; UP000005640; Chromosome 7.
DR RNAct; Q6NXP2; protein.
DR Bgee; ENSG00000205085; Expressed in sperm and 96 other tissues.
DR ExpressionAtlas; Q6NXP2; baseline and differential.
DR Genevisible; Q6NXP2; HS.
DR GO; GO:0005794; C:Golgi apparatus; ISS:UniProtKB.
DR GO; GO:0001675; P:acrosome assembly; ISS:UniProtKB.
DR InterPro; IPR022168; DUF3699.
DR Pfam; PF12480; DUF3699; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Golgi apparatus; Phosphoprotein; Reference proteome.
FT CHAIN 1..309
FT /note="Golgi associated RAB2 interactor protein 1A"
FT /id="PRO_0000311689"
FT MOD_RES 231
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q5RJN7"
FT MOD_RES 263
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q5RJN7"
FT MOD_RES 267
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q5RJN7"
FT VAR_SEQ 52..60
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_029581"
FT VARIANT 112
FT /note="P -> T (in dbSNP:rs17169357)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_037267"
FT VARIANT 114
FT /note="D -> V (in dbSNP:rs6971819)"
FT /evidence="ECO:0000269|PubMed:12690205,
FT ECO:0000269|PubMed:15489334"
FT /id="VAR_037268"
FT VARIANT 136
FT /note="R -> W (in dbSNP:rs6467210)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_037269"
FT VARIANT 251
FT /note="I -> V (in dbSNP:rs1109552)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_037270"
SQ SEQUENCE 309 AA; 34516 MW; 3EDFA2DF5681549D CRC64;
MSKIRGLPPE VREPGPGVEL GVENGLLCQL IHSPEFNLFS NSVVFESNFI QTHVPEADFQ
VTKPGNWRDV CEGSATVILG VTSSVPSLPL PNVLLMANVT WPQGPFTTWS TPGDAPVINL
SRLLPLKYVE LRIYDRLQRI LRVRTVTEKI YYLKLHEKHP EIVFQFWVRL VKILQKGLSI
TTKDPRIKFT HCLVPKMPTN STETTPENSL LSSPQPSEPL VLLAAEQTSG SFSQLSGKPQ
LTADRNNDTA IEIDNCSSYK IPSPVASPIN LNIPMRAALS HSLWEQEDWN EHLLQVHIAS
YLGEHFLGA
