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Golgi SNAP receptor complex member 2 (27 kDa Golgi SNARE protein) (Membrin)

 GOSR2_HUMAN             Reviewed;         212 AA.
O14653; D3DXJ5; D3DXJ6; Q8N4B8; Q96DA5; Q9BZZ4;
01-DEC-2000, integrated into UniProtKB/Swiss-Prot.
30-AUG-2002, sequence version 2.
12-SEP-2018, entry version 165.
RecName: Full=Golgi SNAP receptor complex member 2;
AltName: Full=27 kDa Golgi SNARE protein;
AltName: Full=Membrin;
Name=GOSR2; Synonyms=GS27;
Homo sapiens (Human).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
NCBI_TaxID=9606;
[1]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM A), FUNCTION, AND SUBCELLULAR
LOCATION.
PubMed=9349823; DOI=10.1038/39923;
Lowe S.L., Peter F., Subramaniam V.N., Wong S.H., Hong W.;
"A SNARE involved in protein transport through the Golgi apparatus.";
Nature 389:881-884(1997).
[2]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM A).
PubMed=10198168; DOI=10.1006/geno.1998.5649;
Bui T.D., Levy E.R., Subramaniam V.N., Lowe S.L., Hong W.;
"cDNA characterization and chromosomal mapping of human Golgi SNARE
GS27 and GS28 to chromosome 17.";
Genomics 57:285-288(1999).
[3]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM B).
Bui T.D., Hong W.;
"Gene organization of human Golgi SNARE GS27.";
Submitted (JAN-2000) to the EMBL/GenBank/DDBJ databases.
[4]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
PubMed=14702039; DOI=10.1038/ng1285;
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A.,
Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M.,
Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y.,
Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M.,
Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K.,
Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S.,
Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J.,
Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y.,
Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N.,
Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S.,
Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y.,
Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T.,
Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y.,
Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S.,
Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T.,
Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M.,
Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T.,
Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K.,
Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R.,
Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.;
"Complete sequencing and characterization of 21,243 full-length human
cDNAs.";
Nat. Genet. 36:40-45(2004).
[5]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
PubMed=16625196; DOI=10.1038/nature04689;
Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R.,
Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A.,
Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J.,
Chang J.L., Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J.,
DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R.,
Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N.,
Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B.,
Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J.,
Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E.,
Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J.,
Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C.,
Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D.,
Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A.,
Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.;
"DNA sequence of human chromosome 17 and analysis of rearrangement in
the human lineage.";
Nature 440:1045-1049(2006).
[6]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L.,
Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R.,
Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V.,
Hannenhalli S., Turner R., Yooseph S., Lu F., Nusskern D.R.,
Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H.,
Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G.,
Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W.,
Venter J.C.;
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
[7]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS A AND 3).
TISSUE=Colon, and Lung;
PubMed=15489334; DOI=10.1101/gr.2596504;
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA
project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
[8]
PROTEIN SEQUENCE OF 1-10; 51-63 AND 75-85, ACETYLATION AT MET-1, AND
IDENTIFICATION BY MASS SPECTROMETRY.
TISSUE=Osteosarcoma;
Bienvenut W.V., Lao L., Ryan K.M.;
Submitted (JUN-2009) to UniProtKB.
[9] {ECO:0000244|PDB:3EG9}
X-RAY CRYSTALLOGRAPHY (3.00 ANGSTROMS) OF 116-121 IN COMPLEX WITH
SEC23A AND SEC24D, INTERACTION WITH SEC24C AND SEC24D, MUTAGENESIS OF
ILE-118 AND MET-120, AND MOTIF.
PubMed=18843296; DOI=10.1038/emboj.2008.208;
Mancias J.D., Goldberg J.;
"Structural basis of cargo membrane protein discrimination by the
human COPII coat machinery.";
EMBO J. 27:2918-2928(2008).
[10]
VARIANT EPM6 TRP-144, CHARACTERIZATION OF VARIANT EPM6 TRP-144, AND
SUBCELLULAR LOCATION.
PubMed=21549339; DOI=10.1016/j.ajhg.2011.04.011;
Corbett M.A., Schwake M., Bahlo M., Dibbens L.M., Lin M.,
Gandolfo L.C., Vears D.F., O'Sullivan J.D., Robertson T., Bayly M.A.,
Gardner A.E., Vlaar A.M., Korenke G.C., Bloem B.R., de Coo I.F.,
Verhagen J.M., Lehesjoki A.E., Gecz J., Berkovic S.F.;
"A mutation in the Golgi Qb-SNARE gene GOSR2 causes progressive
myoclonus epilepsy with early ataxia.";
Am. J. Hum. Genet. 88:657-663(2011).
-!- FUNCTION: Involved in transport of proteins from the cis/medial-
Golgi to the trans-Golgi network. {ECO:0000269|PubMed:9349823}.
-!- SUBUNIT: Part of a unique SNARE complex composed of the Golgi
SNAREs GOSR1, STX5 and YKT6 (By similarity). Interacts (via IxM
motif) with SEC24C and SEC24D; mediates GOSR2 packaging into
COPII-coated vesicles (PubMed:18843296).
{ECO:0000250|UniProtKB:O35165, ECO:0000269|PubMed:18843296}.
-!- INTERACTION:
O15155:BET1; NbExp=4; IntAct=EBI-4401517, EBI-749204;
Q8N6L0:CCDC155; NbExp=5; IntAct=EBI-4401517, EBI-749265;
Q0D2H9:GOLGA8DP; NbExp=5; IntAct=EBI-4401517, EBI-10181276;
Q08AF8:GOLGA8G; NbExp=5; IntAct=EBI-4401517, EBI-10181260;
Q16623:STX1A; NbExp=4; IntAct=EBI-4401517, EBI-712466;
Q12846:STX4; NbExp=5; IntAct=EBI-4401517, EBI-744942;
O43752:STX6; NbExp=3; IntAct=EBI-4401517, EBI-2695795;
-!- SUBCELLULAR LOCATION: Golgi apparatus, cis-Golgi network membrane
{ECO:0000269|PubMed:21549339}; Single-pass type IV membrane
protein {ECO:0000255}. Golgi apparatus membrane
{ECO:0000269|PubMed:9349823}. Endoplasmic reticulum membrane
{ECO:0000250|UniProtKB:O35165}. Note=Concentrated most in the
intermediate compartment/cis-Golgi network and the cis-Golgi
cisternae 1 and 2. Greatly reduced in concentration at the trans
end of the Golgi apparatus. {ECO:0000250|UniProtKB:O35165}.
-!- ALTERNATIVE PRODUCTS:
Event=Alternative splicing; Named isoforms=3;
Name=A;
IsoId=O14653-1; Sequence=Displayed;
Name=B;
IsoId=O14653-2; Sequence=VSP_001829;
Name=3;
IsoId=O14653-3; Sequence=VSP_043200;
-!- DISEASE: Epilepsy, progressive myoclonic 6 (EPM6) [MIM:614018]: A
neurologic disorder characterized by onset of ataxia in the first
years of life, followed by action myoclonus and seizures later in
childhood, and loss of independent ambulation in the second
decade. Cognition is not usually affected, although mild memory
difficulties may occur in the third decade.
{ECO:0000269|PubMed:21549339}. Note=The disease is caused by
mutations affecting the gene represented in this entry.
-!- SIMILARITY: Belongs to the GOSR2 family. {ECO:0000305}.
-----------------------------------------------------------------------
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EMBL; AF007548; AAB82651.1; -; mRNA.
EMBL; AF229796; AAK01855.1; -; mRNA.
EMBL; AK290890; BAF83579.1; -; mRNA.
EMBL; AC005670; -; NOT_ANNOTATED_CDS; Genomic_DNA.
EMBL; CH471231; EAW57694.1; -; Genomic_DNA.
EMBL; CH471231; EAW57695.1; -; Genomic_DNA.
EMBL; CH471231; EAW57699.1; -; Genomic_DNA.
EMBL; CH471231; EAW57700.1; -; Genomic_DNA.
EMBL; BC034762; AAH34762.1; -; mRNA.
EMBL; BC009710; AAH09710.1; -; mRNA.
CCDS; CCDS11507.1; -. [O14653-2]
CCDS; CCDS42355.1; -. [O14653-1]
CCDS; CCDS45719.1; -. [O14653-3]
RefSeq; NP_001012529.1; NM_001012511.2. [O14653-3]
RefSeq; NP_004278.2; NM_004287.4. [O14653-1]
RefSeq; NP_473363.1; NM_054022.3. [O14653-2]
UniGene; Hs.463278; -.
UniGene; Hs.596195; -.
PDB; 3EG9; X-ray; 3.00 A; C=116-121.
PDBsum; 3EG9; -.
ProteinModelPortal; O14653; -.
SMR; O14653; -.
BioGrid; 114940; 25.
IntAct; O14653; 52.
MINT; O14653; -.
STRING; 9606.ENSP00000225567; -.
iPTMnet; O14653; -.
PhosphoSitePlus; O14653; -.
BioMuta; GOSR2; -.
EPD; O14653; -.
MaxQB; O14653; -.
PaxDb; O14653; -.
PeptideAtlas; O14653; -.
PRIDE; O14653; -.
ProteomicsDB; 48148; -.
ProteomicsDB; 48149; -. [O14653-2]
ProteomicsDB; 48150; -. [O14653-3]
DNASU; 9570; -.
Ensembl; ENST00000225567; ENSP00000225567; ENSG00000108433. [O14653-2]
Ensembl; ENST00000640051; ENSP00000492751; ENSG00000108433. [O14653-1]
Ensembl; ENST00000640621; ENSP00000492830; ENSG00000108433. [O14653-3]
GeneID; 9570; -.
KEGG; hsa:9570; -.
UCSC; uc002iky.4; human. [O14653-1]
CTD; 9570; -.
DisGeNET; 9570; -.
EuPathDB; HostDB:ENSG00000108433.15; -.
GeneCards; GOSR2; -.
HGNC; HGNC:4431; GOSR2.
HPA; CAB017456; -.
HPA; HPA048956; -.
HPA; HPA054472; -.
MalaCards; GOSR2; -.
MIM; 604027; gene.
MIM; 614018; phenotype.
neXtProt; NX_O14653; -.
OpenTargets; ENSG00000108433; -.
Orphanet; 280620; Progressive myoclonic epilepsy type 6.
PharmGKB; PA28816; -.
eggNOG; KOG3251; Eukaryota.
eggNOG; ENOG4111M37; LUCA.
GeneTree; ENSGT00490000043403; -.
HOGENOM; HOG000231153; -.
HOVERGEN; HBG051765; -.
InParanoid; O14653; -.
KO; K08496; -.
OrthoDB; EOG091G0KS8; -.
PhylomeDB; O14653; -.
TreeFam; TF313702; -.
Reactome; R-HSA-204005; COPII-mediated vesicle transport.
Reactome; R-HSA-381038; XBP1(S) activates chaperone genes.
Reactome; R-HSA-5694530; Cargo concentration in the ER.
Reactome; R-HSA-6807878; COPI-mediated anterograde transport.
Reactome; R-HSA-6811438; Intra-Golgi traffic.
ChiTaRS; GOSR2; human.
EvolutionaryTrace; O14653; -.
GeneWiki; GOSR2; -.
GenomeRNAi; 9570; -.
PRO; PR:O14653; -.
Proteomes; UP000005640; Chromosome 17.
Bgee; ENSG00000108433; Expressed in 209 organ(s), highest expression level in right testis.
CleanEx; HS_GOSR2; -.
ExpressionAtlas; O14653; baseline and differential.
Genevisible; O14653; HS.
GO; GO:0005829; C:cytosol; IEA:GOC.
GO; GO:0005789; C:endoplasmic reticulum membrane; IBA:GO_Central.
GO; GO:0033116; C:endoplasmic reticulum-Golgi intermediate compartment membrane; TAS:Reactome.
GO; GO:0012507; C:ER to Golgi transport vesicle membrane; IBA:GO_Central.
GO; GO:0005794; C:Golgi apparatus; IDA:UniProtKB.
GO; GO:0000139; C:Golgi membrane; IDA:UniProtKB.
GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
GO; GO:0031902; C:late endosome membrane; IBA:GO_Central.
GO; GO:0016020; C:membrane; HDA:UniProtKB.
GO; GO:0031201; C:SNARE complex; ISS:UniProtKB.
GO; GO:0005484; F:SNAP receptor activity; IBA:GO_Central.
GO; GO:0000149; F:SNARE binding; IBA:GO_Central.
GO; GO:0048208; P:COPII vesicle coating; TAS:Reactome.
GO; GO:0006888; P:ER to Golgi vesicle-mediated transport; IBA:GO_Central.
GO; GO:0006896; P:Golgi to vacuole transport; IBA:GO_Central.
GO; GO:0006891; P:intra-Golgi vesicle-mediated transport; IDA:UniProtKB.
GO; GO:0036498; P:IRE1-mediated unfolded protein response; TAS:Reactome.
GO; GO:0006623; P:protein targeting to vacuole; IBA:GO_Central.
GO; GO:0042147; P:retrograde transport, endosome to Golgi; IBA:GO_Central.
GO; GO:0048280; P:vesicle fusion with Golgi apparatus; IBA:GO_Central.
InterPro; IPR027027; GOSR2/Membrin/Bos1.
InterPro; IPR010989; SNARE.
PIRSF; PIRSF028865; Membrin-2; 1.
SUPFAM; SSF47661; SSF47661; 1.
1: Evidence at protein level;
3D-structure; Acetylation; Alternative splicing; Coiled coil;
Complete proteome; Direct protein sequencing; Disease mutation;
Endoplasmic reticulum; Epilepsy; Golgi apparatus; Membrane;
Polymorphism; Protein transport; Reference proteome; Transmembrane;
Transmembrane helix; Transport.
CHAIN 1 212 Golgi SNAP receptor complex member 2.
/FTId=PRO_0000212549.
TOPO_DOM 1 190 Cytoplasmic. {ECO:0000255}.
TRANSMEM 191 211 Helical; Anchor for type IV membrane
protein. {ECO:0000255}.
TOPO_DOM 212 212 Vesicular. {ECO:0000255}.
COILED 61 107 {ECO:0000255}.
MOTIF 118 120 IxM motif; signal for cargo packaging
into COPII-coated vesicles.
{ECO:0000269|PubMed:18843296}.
MOD_RES 1 1 N-acetylmethionine. {ECO:0000269|Ref.8}.
VAR_SEQ 160 212 GTQKKILDIANMLGLSNTVMRLIEKRAFQDKYFMIGGMLLT
CVVMFLVVQYLT -> VGSLLGDREKASCFSLIQQFSNCVY
ILITCPQIVIF (in isoform 3).
{ECO:0000303|PubMed:14702039,
ECO:0000303|PubMed:15489334}.
/FTId=VSP_043200.
VAR_SEQ 196 212 GMLLTCVVMFLVVQYLT -> TQGSCQTAHFGGRSAGSS
(in isoform B). {ECO:0000303|Ref.3}.
/FTId=VSP_001829.
VARIANT 67 67 R -> K (in dbSNP:rs197922).
/FTId=VAR_024471.
VARIANT 144 144 G -> W (in EPM6; no effect on protein
stability; loss of localization to the
cis-Golgi network membrane; loss of
function; unable to rescue the yeast
strain lacking the ortholog Bos1;
dbSNP:rs387906881).
{ECO:0000269|PubMed:21549339}.
/FTId=VAR_065833.
MUTAGEN 118 118 I->A: Loss of interaction with SEC24C.
{ECO:0000269|PubMed:18843296}.
MUTAGEN 120 120 M->A: Loss of interaction with SEC24C.
{ECO:0000269|PubMed:18843296}.
CONFLICT 106 106 S -> C (in Ref. 1; AAB82651).
{ECO:0000305}.
CONFLICT 113 113 D -> G (in Ref. 1; AAB82651).
{ECO:0000305}.
CONFLICT 166 166 L -> P (in Ref. 1; AAB82651).
{ECO:0000305}.
STRAND 117 119 {ECO:0000244|PDB:3EG9}.
SEQUENCE 212 AA; 24775 MW; 4D5585CF858A610F CRC64;
MDPLFQQTHK QVHEIQSCMG RLETADKQSV HIVENEIQAS IDQIFSRLER LEILSSKEPP
NKRQNARLRV DQLKYDVQHL QTALRNFQHR RHAREQQERQ REELLSRTFT TNDSDTTIPM
DESLQFNSSL QKVHNGMDDL ILDGHNILDG LRTQRLTLKG TQKKILDIAN MLGLSNTVMR
LIEKRAFQDK YFMIGGMLLT CVVMFLVVQY LT


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