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O95721

- SNP29_HUMAN

UniProt

O95721 - SNP29_HUMAN

Protein

Synaptosomal-associated protein 29

Gene

SNAP29

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 133 (01 Oct 2014)
      Sequence version 1 (01 May 1999)
      Previous versions | rss
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    Functioni

    SNAREs, Soluble N-ethylmaleimide-sensitive factor-attachment protein receptors, are essential proteins for fusion of cellular membranes. SNAREs localized on opposing membranes assemble to form a trans-SNARE complex, an extended, parallel four alpha-helical bundle that drives membrane fusion. SNAP29 is a SNARE involved in autophagy through the direct control of autophagosome membrane fusion with the lysososome membrane. Probably involved in multiple membrane trafficking steps.1 Publication

    GO - Molecular functioni

    1. SNAP receptor activity Source: ProtInc

    GO - Biological processi

    1. autophagic vacuole fusion Source: UniProtKB
    2. exocytosis Source: ProtInc
    3. membrane fusion Source: ProtInc
    4. protein transport Source: UniProtKB-KW
    5. vesicle targeting Source: ProtInc

    Keywords - Biological processi

    Autophagy, Protein transport, Transport

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Synaptosomal-associated protein 29
    Short name:
    SNAP-29
    Alternative name(s):
    Soluble 29 kDa NSF attachment protein
    Vesicle-membrane fusion protein SNAP-29
    Gene namesi
    Name:SNAP29
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 22

    Organism-specific databases

    HGNCiHGNC:11133. SNAP29.

    Subcellular locationi

    Cytoplasm. Membrane; Peripheral membrane protein. Cell junctionsynapsesynaptosome
    Note: Appears to be mostly membrane-bound, probably via interaction with syntaxins, but a significant portion is cytoplasmic.

    GO - Cellular componenti

    1. cell junction Source: UniProtKB-KW
    2. centrosome Source: HPA
    3. cytoplasm Source: HPA
    4. neuron projection Source: UniProtKB-SubCell
    5. plasma membrane Source: ProtInc
    6. SNARE complex Source: UniProtKB
    7. synapse Source: UniProtKB-KW

    Keywords - Cellular componenti

    Cell junction, Cytoplasm, Membrane, Synapse, Synaptosome

    Pathology & Biotechi

    Involvement in diseasei

    Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome (CEDNIK) [MIM:609528]: A neurocutaneous syndrome characterized by cerebral dysgenesis, neuropathy, ichthyosis and palmoplantar keratoderma.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.

    Keywords - Diseasei

    Ichthyosis, Palmoplantar keratoderma

    Organism-specific databases

    MIMi609528. phenotype.
    Orphaneti66631. CEDNIK syndrome.
    PharmGKBiPA35981.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 258258Synaptosomal-associated protein 29PRO_0000213601Add
    BLAST

    Proteomic databases

    MaxQBiO95721.
    PaxDbiO95721.
    PeptideAtlasiO95721.
    PRIDEiO95721.

    PTM databases

    PhosphoSiteiO95721.

    Expressioni

    Tissue specificityi

    Found in brain, heart, kidney, liver, lung, placenta, skeletal muscle, spleen and pancreas.

    Gene expression databases

    ArrayExpressiO95721.
    BgeeiO95721.
    CleanExiHS_SNAP29.
    GenevestigatoriO95721.

    Organism-specific databases

    HPAiCAB037092.
    HPA031823.
    HPA056492.

    Interactioni

    Subunit structurei

    Interacts with multiple syntaxins including STX6 By similarity. Forms a SNARE complex, composed of VAMP8, SNAP29 and STX17, involved in fusion of autophagosome with lysosome.By similarity1 Publication

    Protein-protein interaction databases

    BioGridi114748. 25 interactions.
    DIPiDIP-56475N.
    IntActiO95721. 13 interactions.
    MINTiMINT-3003155.
    STRINGi9606.ENSP00000215730.

    Structurei

    3D structure databases

    ProteinModelPortaliO95721.
    SMRiO95721. Positions 54-110, 203-255.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini196 – 25863t-SNARE coiled-coil homologyPROSITE-ProRule annotationAdd
    BLAST

    Coiled coil

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Coiled coili76 – 10732Sequence AnalysisAdd
    BLAST

    Sequence similaritiesi

    Belongs to the SNAP-25 family.Curated
    Contains 1 t-SNARE coiled-coil homology domain.PROSITE-ProRule annotation

    Keywords - Domaini

    Coiled coil

    Phylogenomic databases

    eggNOGiNOG244202.
    HOGENOMiHOG000046806.
    HOVERGENiHBG057045.
    InParanoidiO95721.
    KOiK08509.
    OMAiAYPRSYN.
    OrthoDBiEOG7FNC8G.
    PhylomeDBiO95721.
    TreeFamiTF320226.

    Family and domain databases

    InterProiIPR000928. SNAP-25.
    IPR000727. T_SNARE_dom.
    [Graphical view]
    PfamiPF00835. SNAP-25. 1 hit.
    PF05739. SNARE. 1 hit.
    [Graphical view]
    SMARTiSM00397. t_SNARE. 2 hits.
    [Graphical view]
    PROSITEiPS50192. T_SNARE. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    O95721-1 [UniParc]FASTAAdd to Basket

    « Hide

    MSAYPKSYNP FDDDGEDEGA RPAPWRDARD LPDGPDAPAD RQQYLRQEVL    50
    RRAEATAAST SRSLALMYES EKVGVASSEE LARQRGVLER TEKMVDKMDQ 100
    DLKISQKHIN SIKSVFGGLV NYFKSKPVET PPEQNGTLTS QPNNRLKEAI 150
    STSKEQEAKY QASHPNLRKL DDTDPVPRGA GSAMSTDAYP KNPHLRAYHQ 200
    KIDSNLDELS MGLGRLKDIA LGMQTEIEEQ DDILDRLTTK VDKLDVNIKS 250
    TERKVRQL 258
    Length:258
    Mass (Da):28,970
    Last modified:May 1, 1999 - v1
    Checksum:i7E1CDBA22D6F5A3C
    GO

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF115436 mRNA. Translation: AAD11436.1.
    AF278704 Genomic DNA. Translation: AAF91421.1.
    CR456582 mRNA. Translation: CAG30468.1.
    BT007357 mRNA. Translation: AAP36021.1.
    BC009715 mRNA. Translation: AAH09715.1.
    CCDSiCCDS13784.1.
    RefSeqiNP_004773.1. NM_004782.3.
    UniGeneiHs.108002.

    Genome annotation databases

    EnsembliENST00000215730; ENSP00000215730; ENSG00000099940.
    GeneIDi9342.
    KEGGihsa:9342.
    UCSCiuc011ahw.2. human.

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF115436 mRNA. Translation: AAD11436.1 .
    AF278704 Genomic DNA. Translation: AAF91421.1 .
    CR456582 mRNA. Translation: CAG30468.1 .
    BT007357 mRNA. Translation: AAP36021.1 .
    BC009715 mRNA. Translation: AAH09715.1 .
    CCDSi CCDS13784.1.
    RefSeqi NP_004773.1. NM_004782.3.
    UniGenei Hs.108002.

    3D structure databases

    ProteinModelPortali O95721.
    SMRi O95721. Positions 54-110, 203-255.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 114748. 25 interactions.
    DIPi DIP-56475N.
    IntActi O95721. 13 interactions.
    MINTi MINT-3003155.
    STRINGi 9606.ENSP00000215730.

    PTM databases

    PhosphoSitei O95721.

    Proteomic databases

    MaxQBi O95721.
    PaxDbi O95721.
    PeptideAtlasi O95721.
    PRIDEi O95721.

    Protocols and materials databases

    DNASUi 9342.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000215730 ; ENSP00000215730 ; ENSG00000099940 .
    GeneIDi 9342.
    KEGGi hsa:9342.
    UCSCi uc011ahw.2. human.

    Organism-specific databases

    CTDi 9342.
    GeneCardsi GC22P021213.
    HGNCi HGNC:11133. SNAP29.
    HPAi CAB037092.
    HPA031823.
    HPA056492.
    MIMi 604202. gene.
    609528. phenotype.
    neXtProti NX_O95721.
    Orphaneti 66631. CEDNIK syndrome.
    PharmGKBi PA35981.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG244202.
    HOGENOMi HOG000046806.
    HOVERGENi HBG057045.
    InParanoidi O95721.
    KOi K08509.
    OMAi AYPRSYN.
    OrthoDBi EOG7FNC8G.
    PhylomeDBi O95721.
    TreeFami TF320226.

    Miscellaneous databases

    GeneWikii SNAP29.
    GenomeRNAii 9342.
    NextBioi 34991.
    PROi O95721.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi O95721.
    Bgeei O95721.
    CleanExi HS_SNAP29.
    Genevestigatori O95721.

    Family and domain databases

    InterProi IPR000928. SNAP-25.
    IPR000727. T_SNARE_dom.
    [Graphical view ]
    Pfami PF00835. SNAP-25. 1 hit.
    PF05739. SNARE. 1 hit.
    [Graphical view ]
    SMARTi SM00397. t_SNARE. 2 hits.
    [Graphical view ]
    PROSITEi PS50192. T_SNARE. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. Cited for: NUCLEOTIDE SEQUENCE [MRNA].
      Tissue: Brain.
    2. "Genomic organization of the human SNAP29 gene."
      Schardt A., Kraemer E.-M., Werner H., Nave K.-A.
      Submitted (JUN-2000) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
    3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    4. "Cloning of human full-length CDSs in BD Creator(TM) system donor vector."
      Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S., Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y., Phelan M., Farmer A.
      Submitted (MAY-2003) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    5. "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].
      Tissue: Pancreas.
    6. "A mutation in SNAP29, coding for a SNARE protein involved in intracellular trafficking, causes a novel neurocutaneous syndrome characterized by cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma."
      Sprecher E., Ishida-Yamamoto A., Mizrahi-Koren M., Rapaport D., Goldsher D., Indelman M., Topaz O., Chefetz I., Keren H., O'brien T.J., Bercovich D., Shalev S., Geiger D., Bergman R., Horowitz M., Mandel H.
      Am. J. Hum. Genet. 77:242-251(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: INVOLVEMENT IN CEDNIK.
    7. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    8. "The hairpin-type tail-anchored SNARE syntaxin 17 targets to autophagosomes for fusion with endosomes/lysosomes."
      Itakura E., Kishi-Itakura C., Mizushima N.
      Cell 151:1256-1269(2012) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION IN AUTOPHAGY, INTERACTION WITH VAMP8 AND STX17.

    Entry informationi

    Entry nameiSNP29_HUMAN
    AccessioniPrimary (citable) accession number: O95721
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: May 30, 2000
    Last sequence update: May 1, 1999
    Last modified: October 1, 2014
    This is version 133 of the entry and version 1 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

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 22
      Human chromosome 22: entries, gene names and cross-references to MIM
    2. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    3. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3