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O14653

- GOSR2_HUMAN

UniProt

O14653 - GOSR2_HUMAN

Protein

Golgi SNAP receptor complex member 2

Gene

GOSR2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 128 (01 Oct 2014)
      Sequence version 2 (30 Aug 2002)
      Previous versions | rss
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    Functioni

    Involved in transport of proteins from the cis/medial-Golgi to the trans-Golgi network.

    GO - Molecular functioni

    1. transporter activity Source: ProtInc

    GO - Biological processi

    1. activation of signaling protein activity involved in unfolded protein response Source: Reactome
    2. cellular protein metabolic process Source: Reactome
    3. endoplasmic reticulum unfolded protein response Source: Reactome
    4. ER to Golgi vesicle-mediated transport Source: ProtInc
    5. membrane fusion Source: ProtInc
    6. protein transport Source: UniProtKB-KW

    Keywords - Biological processi

    Protein transport, Transport

    Enzyme and pathway databases

    ReactomeiREACT_18273. XBP1(S) activates chaperone genes.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Golgi SNAP receptor complex member 2
    Alternative name(s):
    27 kDa Golgi SNARE protein
    Membrin
    Gene namesi
    Name:GOSR2
    Synonyms:GS27
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 17

    Organism-specific databases

    HGNCiHGNC:4431. GOSR2.

    Subcellular locationi

    Golgi apparatuscis-Golgi network membrane By similarity; Single-pass type IV membrane protein By similarity. Golgi apparatus membrane By similarity
    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 By similarity.By similarity

    GO - Cellular componenti

    1. Golgi membrane Source: Reactome
    2. Golgi stack Source: InterPro
    3. integral component of membrane Source: UniProtKB-KW
    4. membrane Source: UniProtKB

    Keywords - Cellular componenti

    Golgi apparatus, Membrane

    Pathology & Biotechi

    Involvement in diseasei

    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.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti144 – 1441G → W in EPM6; loss of function. 1 Publication
    VAR_065833

    Keywords - Diseasei

    Disease mutation, Epilepsy

    Organism-specific databases

    MIMi614018. phenotype.
    Orphaneti280620. Progressive myoclonic epilepsy type 6.
    PharmGKBiPA28816.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 212212Golgi SNAP receptor complex member 2PRO_0000212549Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei1 – 11N-acetylmethionine1 Publication

    Keywords - PTMi

    Acetylation

    Proteomic databases

    MaxQBiO14653.
    PaxDbiO14653.
    PRIDEiO14653.

    PTM databases

    PhosphoSiteiO14653.

    Expressioni

    Gene expression databases

    ArrayExpressiO14653.
    BgeeiO14653.
    CleanExiHS_GOSR2.
    GenevestigatoriO14653.

    Organism-specific databases

    HPAiCAB017456.
    HPA054472.

    Interactioni

    Subunit structurei

    Identified in a unique SNARE complex composed of the Golgi SNAREs GOSR1, STX5 and YKT6.By similarity

    Protein-protein interaction databases

    BioGridi114940. 4 interactions.
    STRINGi9606.ENSP00000225567.

    Structurei

    Secondary structure

    1
    212
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Beta strandi117 – 1193

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    3EG9X-ray3.00C116-121[»]
    ProteinModelPortaliO14653.
    SMRiO14653. Positions 124-180.
    ModBaseiSearch...
    MobiDBiSearch...

    Miscellaneous databases

    EvolutionaryTraceiO14653.

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 190190CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini212 – 2121VesicularSequence Analysis

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei191 – 21121Helical; Anchor for type IV membrane proteinSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Coiled coil

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Coiled coili61 – 10747Sequence AnalysisAdd
    BLAST

    Sequence similaritiesi

    Belongs to the GOSR2 family.Curated

    Keywords - Domaini

    Coiled coil, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG148687.
    HOGENOMiHOG000231153.
    HOVERGENiHBG051765.
    KOiK08496.
    OMAiLLSSHCK.
    PhylomeDBiO14653.
    TreeFamiTF313702.

    Family and domain databases

    InterProiIPR027027. GOSR2/Membrin/Bos1.
    IPR010989. t-SNARE.
    [Graphical view]
    PIRSFiPIRSF028865. Membrin-2. 1 hit.
    SUPFAMiSSF47661. SSF47661. 1 hit.

    Sequences (3)i

    Sequence statusi: Complete.

    This entry describes 3 isoformsi produced by alternative splicing. Align

    Isoform A (identifier: O14653-1) [UniParc]FASTAAdd to Basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MDPLFQQTHK QVHEIQSCMG RLETADKQSV HIVENEIQAS IDQIFSRLER    50
    LEILSSKEPP NKRQNARLRV DQLKYDVQHL QTALRNFQHR RHAREQQERQ 100
    REELLSRTFT TNDSDTTIPM DESLQFNSSL QKVHNGMDDL ILDGHNILDG 150
    LRTQRLTLKG TQKKILDIAN MLGLSNTVMR LIEKRAFQDK YFMIGGMLLT 200
    CVVMFLVVQY LT 212
    Length:212
    Mass (Da):24,775
    Last modified:August 30, 2002 - v2
    Checksum:i4D5585CF858A610F
    GO
    Isoform B (identifier: O14653-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         196-212: GMLLTCVVMFLVVQYLT → TQGSCQTAHFGGRSAGSS

    Show »
    Length:213
    Mass (Da):24,584
    Checksum:i990393DAD02BC374
    GO
    Isoform 3 (identifier: O14653-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         160-212: GTQKKILDIA...VMFLVVQYLT → VGSLLGDREK...LITCPQIVIF

    Show »
    Length:195
    Mass (Da):22,725
    Checksum:iAEC4DA42C06B1D2E
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti106 – 1061S → C in AAB82651. (PubMed:9349823)Curated
    Sequence conflicti113 – 1131D → G in AAB82651. (PubMed:9349823)Curated
    Sequence conflicti166 – 1661L → P in AAB82651. (PubMed:9349823)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti67 – 671R → K.
    Corresponds to variant rs197922 [ dbSNP | Ensembl ].
    VAR_024471
    Natural varianti144 – 1441G → W in EPM6; loss of function. 1 Publication
    VAR_065833

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei160 – 21253GTQKK…VQYLT → VGSLLGDREKASCFSLIQQF SNCVYILITCPQIVIF in isoform 3. 2 PublicationsVSP_043200Add
    BLAST
    Alternative sequencei196 – 21217GMLLT…VQYLT → TQGSCQTAHFGGRSAGSS in isoform B. 1 PublicationVSP_001829Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF007548 mRNA. Translation: AAB82651.1.
    AF229796 mRNA. Translation: AAK01855.1.
    AK290890 mRNA. Translation: BAF83579.1.
    AC005670 Genomic DNA. No translation available.
    CH471231 Genomic DNA. Translation: EAW57694.1.
    CH471231 Genomic DNA. Translation: EAW57695.1.
    CH471231 Genomic DNA. Translation: EAW57699.1.
    CH471231 Genomic DNA. Translation: EAW57700.1.
    BC034762 mRNA. Translation: AAH34762.1.
    BC009710 mRNA. Translation: AAH09710.1.
    CCDSiCCDS11507.1. [O14653-2]
    CCDS42355.1. [O14653-1]
    CCDS45719.1. [O14653-3]
    RefSeqiNP_001012529.1. NM_001012511.1. [O14653-3]
    NP_004278.2. NM_004287.3. [O14653-1]
    NP_473363.1. NM_054022.2. [O14653-2]
    UniGeneiHs.463278.

    Genome annotation databases

    EnsembliENST00000225567; ENSP00000225567; ENSG00000108433. [O14653-2]
    ENST00000393456; ENSP00000377101; ENSG00000108433. [O14653-1]
    ENST00000415811; ENSP00000394559; ENSG00000108433. [O14653-3]
    GeneIDi9570.
    KEGGihsa:9570.
    UCSCiuc002iky.3. human. [O14653-3]
    uc002ikz.3. human. [O14653-2]
    uc002ila.3. human. [O14653-1]

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF007548 mRNA. Translation: AAB82651.1 .
    AF229796 mRNA. Translation: AAK01855.1 .
    AK290890 mRNA. Translation: BAF83579.1 .
    AC005670 Genomic DNA. No translation available.
    CH471231 Genomic DNA. Translation: EAW57694.1 .
    CH471231 Genomic DNA. Translation: EAW57695.1 .
    CH471231 Genomic DNA. Translation: EAW57699.1 .
    CH471231 Genomic DNA. Translation: EAW57700.1 .
    BC034762 mRNA. Translation: AAH34762.1 .
    BC009710 mRNA. Translation: AAH09710.1 .
    CCDSi CCDS11507.1. [O14653-2 ]
    CCDS42355.1. [O14653-1 ]
    CCDS45719.1. [O14653-3 ]
    RefSeqi NP_001012529.1. NM_001012511.1. [O14653-3 ]
    NP_004278.2. NM_004287.3. [O14653-1 ]
    NP_473363.1. NM_054022.2. [O14653-2 ]
    UniGenei Hs.463278.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    3EG9 X-ray 3.00 C 116-121 [» ]
    ProteinModelPortali O14653.
    SMRi O14653. Positions 124-180.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 114940. 4 interactions.
    STRINGi 9606.ENSP00000225567.

    PTM databases

    PhosphoSitei O14653.

    Proteomic databases

    MaxQBi O14653.
    PaxDbi O14653.
    PRIDEi O14653.

    Protocols and materials databases

    DNASUi 9570.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000225567 ; ENSP00000225567 ; ENSG00000108433 . [O14653-2 ]
    ENST00000393456 ; ENSP00000377101 ; ENSG00000108433 . [O14653-1 ]
    ENST00000415811 ; ENSP00000394559 ; ENSG00000108433 . [O14653-3 ]
    GeneIDi 9570.
    KEGGi hsa:9570.
    UCSCi uc002iky.3. human. [O14653-3 ]
    uc002ikz.3. human. [O14653-2 ]
    uc002ila.3. human. [O14653-1 ]

    Organism-specific databases

    CTDi 9570.
    GeneCardsi GC17P045000.
    HGNCi HGNC:4431. GOSR2.
    HPAi CAB017456.
    HPA054472.
    MIMi 604027. gene.
    614018. phenotype.
    neXtProti NX_O14653.
    Orphaneti 280620. Progressive myoclonic epilepsy type 6.
    PharmGKBi PA28816.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG148687.
    HOGENOMi HOG000231153.
    HOVERGENi HBG051765.
    KOi K08496.
    OMAi LLSSHCK.
    PhylomeDBi O14653.
    TreeFami TF313702.

    Enzyme and pathway databases

    Reactomei REACT_18273. XBP1(S) activates chaperone genes.

    Miscellaneous databases

    EvolutionaryTracei O14653.
    GeneWikii GOSR2.
    GenomeRNAii 9570.
    NextBioi 35891.
    PROi O14653.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi O14653.
    Bgeei O14653.
    CleanExi HS_GOSR2.
    Genevestigatori O14653.

    Family and domain databases

    InterProi IPR027027. GOSR2/Membrin/Bos1.
    IPR010989. t-SNARE.
    [Graphical view ]
    PIRSFi PIRSF028865. Membrin-2. 1 hit.
    SUPFAMi SSF47661. SSF47661. 1 hit.
    ProtoNeti Search...

    Publicationsi

    1. "A SNARE involved in protein transport through the Golgi apparatus."
      Lowe S.L., Peter F., Subramaniam V.N., Wong S.H., Hong W.
      Nature 389:881-884(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM A).
    2. "cDNA characterization and chromosomal mapping of human Golgi SNARE GS27 and GS28 to chromosome 17."
      Bui T.D., Levy E.R., Subramaniam V.N., Lowe S.L., Hong W.
      Genomics 57:285-288(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM A).
    3. "Gene organization of human Golgi SNARE GS27."
      Bui T.D., Hong W.
      Submitted (JAN-2000) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM B).
    4. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      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.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
    5. "DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage."
      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.
      Nature 440:1045-1049(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    6. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    7. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS A AND 3).
      Tissue: Colon and Lung.
    8. Bienvenut W.V., Lao L., Ryan K.M.
      Submitted (JUN-2009) to UniProtKB
      Cited for: PROTEIN SEQUENCE OF 1-10; 51-63 AND 75-85, ACETYLATION AT MET-1, IDENTIFICATION BY MASS SPECTROMETRY.
      Tissue: Osteosarcoma.
    9. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    10. Cited for: VARIANT EPM6 TRP-144, CHARACTERIZATION OF VARIANT EPM6 TRP-144.

    Entry informationi

    Entry nameiGOSR2_HUMAN
    AccessioniPrimary (citable) accession number: O14653
    Secondary accession number(s): D3DXJ5
    , D3DXJ6, Q8N4B8, Q96DA5, Q9BZZ4
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: December 1, 2000
    Last sequence update: August 30, 2002
    Last modified: October 1, 2014
    This is version 128 of the entry and version 2 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    3D-structure, Complete proteome, Direct protein sequencing, Reference proteome

    Documents

    1. Human chromosome 17
      Human chromosome 17: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
    6. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3