Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Basket 0
(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

Q5SQN1

- SNP47_HUMAN

UniProt

Q5SQN1 - SNP47_HUMAN

Protein

Synaptosomal-associated protein 47

Gene

SNAP47

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at protein leveli
    • BLAST
    • Align
    • Format
    • Add to basket
    • History
      Entry version 78 (01 Oct 2014)
      Sequence version 3 (26 May 2009)
      Previous versions | rss
    • Help video
    • Feedback
    • Comment

    Functioni

    Plays a role in intracellular membrane fusion.By similarity

    GO - Molecular functioni

    1. protein binding Source: UniProtKB

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Synaptosomal-associated protein 47
    Short name:
    SNAP-47
    Alternative name(s):
    Epididymis luminal protein 170
    Synaptosomal-associated 47 kDa protein
    Gene namesi
    Name:SNAP47
    Synonyms:C1orf142, HEL170, SVAP1
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 1

    Organism-specific databases

    HGNCiHGNC:30669. SNAP47.

    Subcellular locationi

    Endomembrane system By similarity. Cytoplasmperinuclear region By similarity
    Note: Appears to be exclusively membrane-bound.By similarity

    GO - Cellular componenti

    1. endomembrane system Source: UniProtKB-SubCell
    2. membrane Source: UniProtKB-KW
    3. perinuclear region of cytoplasm Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Cytoplasm, Membrane

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA164725983.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 464464Synaptosomal-associated protein 47PRO_0000307151Add
    BLAST

    Proteomic databases

    MaxQBiQ5SQN1.
    PaxDbiQ5SQN1.
    PRIDEiQ5SQN1.

    PTM databases

    PhosphoSiteiQ5SQN1.

    Expressioni

    Gene expression databases

    BgeeiQ5SQN1.
    CleanExiHS_SNAP47.
    GenevestigatoriQ5SQN1.

    Organism-specific databases

    HPAiHPA028167.

    Interactioni

    Subunit structurei

    Forms a complex containing SNAP47, VAMP2 and STX1A By similarity. Associates with the BLOC-1 complex. Interacts with BLOC1S6.By similarity1 Publication

    Protein-protein interaction databases

    BioGridi125534. 2 interactions.

    Structurei

    3D structure databases

    ProteinModelPortaliQ5SQN1.
    SMRiQ5SQN1. Positions 165-216, 408-460.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini154 – 21663t-SNARE coiled-coil homology 1PROSITE-ProRule annotationAdd
    BLAST
    Domaini401 – 46363t-SNARE coiled-coil homology 2PROSITE-ProRule annotationAdd
    BLAST

    Sequence similaritiesi

    Belongs to the SVAP1 family.Curated
    Contains 2 t-SNARE coiled-coil homology domains.PROSITE-ProRule annotation

    Keywords - Domaini

    Coiled coil, Repeat

    Phylogenomic databases

    eggNOGiNOG261157.
    HOVERGENiHBG057915.
    InParanoidiQ5SQN1.
    KOiK18212.
    OMAiLEHFWRE.
    OrthoDBiEOG70ZZNG.
    PhylomeDBiQ5SQN1.
    TreeFamiTF331066.

    Family and domain databases

    InterProiIPR000727. T_SNARE_dom.
    [Graphical view]
    PROSITEiPS50192. T_SNARE. 2 hits.
    [Graphical view]

    Sequences (4)i

    Sequence statusi: Complete.

    This entry describes 4 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q5SQN1-1) [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

    MRAARRGLHC AGAERPRRRG RLWDSSGVPQ RQKRPGPWRT QTQEQMSRDV    50
    CIHTWPCTYY LEPKRRWVTG QLSLTSLSLR FMTDSTGEIL VSFPLSSIVE 100
    IKKEASHFIF SSITILEKGH AKHWFSSLRP SRNVVFSIIE HFWRELLLSQ 150
    PGAVADASVP RTRGEELTGL MAGSQKRLED TARVLHHQGQ QLDSVMRGLD 200
    KMESDLEVAD RLLTELESPA WWPFSSKLWK TPPETKPRED VSMTSCEPFG 250
    KEGILIKIPA VISHRTESHV KPGRLTVLVS GLEIHDSSSL LMHRFEREDV 300
    DDIKVHSPYE ISIRQRFIGK PDMAYRLISA KMPEVIPILE VQFSKKMELL 350
    EDALVLRSAR TSSPAEKSCS VWHAASGLMG RTLHREPPAG DQEGTALHLQ 400
    TSLPALSEAD TQELTQILRR MKGLALEAES ELERQDEALD GVAAAVDRAT 450
    LTIDKHNRRM KRLT 464
    Length:464
    Mass (Da):52,562
    Last modified:May 26, 2009 - v3
    Checksum:iFC4061061B0042ED
    GO
    Isoform 2 (identifier: Q5SQN1-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         417-464: ILRRMKGLAL...KHNRRMKRLT → GFRPMSLSTQTVLVMLCSESAGALWRQRLS

    Show »
    Length:446
    Mass (Da):50,426
    Checksum:i1E3234C0CA9733F8
    GO
    Isoform 3 (identifier: Q5SQN1-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-242: Missing.
         417-464: ILRRMKGLAL...KHNRRMKRLT → GFRPMSLSTQTVLVMLCSESAGALWRQRLS

    Show »
    Length:204
    Mass (Da):22,643
    Checksum:i4B47342BDE0CCACB
    GO
    Isoform 4 (identifier: Q5SQN1-4) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-242: Missing.

    Show »
    Length:222
    Mass (Da):24,779
    Checksum:i67C964BEFAD2D416
    GO

    Sequence cautioni

    The sequence BAB70779.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti84 – 863DST → TRP in AAH01332. (PubMed:15489334)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti48 – 481R → G.
    Corresponds to variant rs2236359 [ dbSNP | Ensembl ].
    VAR_035367
    Natural varianti119 – 1191G → R.1 Publication
    Corresponds to variant rs12239037 [ dbSNP | Ensembl ].
    VAR_035368
    Natural varianti154 – 1541V → M.2 Publications
    Corresponds to variant rs2236358 [ dbSNP | Ensembl ].
    VAR_035369
    Natural varianti381 – 3811R → C.2 Publications
    Corresponds to variant rs17851681 [ dbSNP | Ensembl ].
    VAR_035370

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 242242Missing in isoform 3 and isoform 4. 2 PublicationsVSP_028613Add
    BLAST
    Alternative sequencei417 – 46448ILRRM…MKRLT → GFRPMSLSTQTVLVMLCSES AGALWRQRLS in isoform 2 and isoform 3. 2 PublicationsVSP_028614Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY090635 mRNA. Translation: AAM09082.1.
    BX648570 mRNA. Translation: CAI45994.1.
    AL731702, AL136378 Genomic DNA. Translation: CAI21075.1.
    AL731702, AL136378 Genomic DNA. Translation: CAI21076.1.
    AL136378, AL731702 Genomic DNA. Translation: CAI23069.1.
    AL136378 Genomic DNA. Translation: CAI23071.1.
    AL136378, AL731702 Genomic DNA. Translation: CAI23072.1.
    CH471098 Genomic DNA. Translation: EAW69817.1.
    BC001332 mRNA. Translation: AAH01332.1.
    BC004418 mRNA. Translation: AAH04418.1.
    BC007786 mRNA. Translation: AAH07786.2.
    BC011145 mRNA. Translation: AAH11145.1.
    BC014059 mRNA. Translation: AAH14059.2.
    BC018760 mRNA. Translation: AAH18760.2.
    BC025231 mRNA. Translation: AAH25231.1.
    BC032775 mRNA. Translation: AAH32775.1.
    AK054633 mRNA. Translation: BAB70779.1. Different initiation.
    FJ236305 mRNA. Translation: ACI45237.1.
    CCDSiCCDS1562.1. [Q5SQN1-1]
    RefSeqiNP_444280.2. NM_053052.3. [Q5SQN1-1]
    XP_005273101.1. XM_005273044.1. [Q5SQN1-4]
    UniGeneiHs.325081.

    Genome annotation databases

    EnsembliENST00000315781; ENSP00000314157; ENSG00000143740. [Q5SQN1-2]
    ENST00000366759; ENSP00000355721; ENSG00000143740. [Q5SQN1-1]
    ENST00000366760; ENSP00000355722; ENSG00000143740. [Q5SQN1-4]
    GeneIDi116841.
    KEGGihsa:116841.
    UCSCiuc001hra.2. human. [Q5SQN1-4]
    uc001hrd.3. human. [Q5SQN1-2]
    uc001hre.3. human. [Q5SQN1-3]
    uc001hrf.2. human. [Q5SQN1-1]

    Polymorphism databases

    DMDMi238054367.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY090635 mRNA. Translation: AAM09082.1 .
    BX648570 mRNA. Translation: CAI45994.1 .
    AL731702 , AL136378 Genomic DNA. Translation: CAI21075.1 .
    AL731702 , AL136378 Genomic DNA. Translation: CAI21076.1 .
    AL136378 , AL731702 Genomic DNA. Translation: CAI23069.1 .
    AL136378 Genomic DNA. Translation: CAI23071.1 .
    AL136378 , AL731702 Genomic DNA. Translation: CAI23072.1 .
    CH471098 Genomic DNA. Translation: EAW69817.1 .
    BC001332 mRNA. Translation: AAH01332.1 .
    BC004418 mRNA. Translation: AAH04418.1 .
    BC007786 mRNA. Translation: AAH07786.2 .
    BC011145 mRNA. Translation: AAH11145.1 .
    BC014059 mRNA. Translation: AAH14059.2 .
    BC018760 mRNA. Translation: AAH18760.2 .
    BC025231 mRNA. Translation: AAH25231.1 .
    BC032775 mRNA. Translation: AAH32775.1 .
    AK054633 mRNA. Translation: BAB70779.1 . Different initiation.
    FJ236305 mRNA. Translation: ACI45237.1 .
    CCDSi CCDS1562.1. [Q5SQN1-1 ]
    RefSeqi NP_444280.2. NM_053052.3. [Q5SQN1-1 ]
    XP_005273101.1. XM_005273044.1. [Q5SQN1-4 ]
    UniGenei Hs.325081.

    3D structure databases

    ProteinModelPortali Q5SQN1.
    SMRi Q5SQN1. Positions 165-216, 408-460.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 125534. 2 interactions.

    PTM databases

    PhosphoSitei Q5SQN1.

    Polymorphism databases

    DMDMi 238054367.

    Proteomic databases

    MaxQBi Q5SQN1.
    PaxDbi Q5SQN1.
    PRIDEi Q5SQN1.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000315781 ; ENSP00000314157 ; ENSG00000143740 . [Q5SQN1-2 ]
    ENST00000366759 ; ENSP00000355721 ; ENSG00000143740 . [Q5SQN1-1 ]
    ENST00000366760 ; ENSP00000355722 ; ENSG00000143740 . [Q5SQN1-4 ]
    GeneIDi 116841.
    KEGGi hsa:116841.
    UCSCi uc001hra.2. human. [Q5SQN1-4 ]
    uc001hrd.3. human. [Q5SQN1-2 ]
    uc001hre.3. human. [Q5SQN1-3 ]
    uc001hrf.2. human. [Q5SQN1-1 ]

    Organism-specific databases

    CTDi 116841.
    GeneCardsi GC01P227917.
    H-InvDB HIX0023151.
    HGNCi HGNC:30669. SNAP47.
    HPAi HPA028167.
    neXtProti NX_Q5SQN1.
    PharmGKBi PA164725983.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG261157.
    HOVERGENi HBG057915.
    InParanoidi Q5SQN1.
    KOi K18212.
    OMAi LEHFWRE.
    OrthoDBi EOG70ZZNG.
    PhylomeDBi Q5SQN1.
    TreeFami TF331066.

    Miscellaneous databases

    GenomeRNAii 116841.
    NextBioi 80008.
    PROi Q5SQN1.

    Gene expression databases

    Bgeei Q5SQN1.
    CleanExi HS_SNAP47.
    Genevestigatori Q5SQN1.

    Family and domain databases

    InterProi IPR000727. T_SNARE_dom.
    [Graphical view ]
    PROSITEi PS50192. T_SNARE. 2 hits.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Homo sapiens GRASP protein."
      Yang J., Qiu Y.
      Submitted (JUN-2002) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT MET-154.
    2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
      Tissue: Colon endothelium.
    3. "The DNA sequence and biological annotation of human chromosome 1."
      Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.
      , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.
      Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    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] (ISOFORMS 1 AND 4), VARIANTS ARG-119; MET-154 AND CYS-381.
      Tissue: Cervix, Kidney, Lung, Muscle, Ovary, Pancreas and Placenta.
    6. "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] OF 10-464 (ISOFORM 2), VARIANT CYS-381.
      Tissue: Astrocyte.
    7. Li J., Wang H.
      Submitted (SEP-2008) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 30-464 (ISOFORM 1).
    8. "The dysbindin-containing complex (BLOC-1) in brain: developmental regulation, interaction with SNARE proteins and role in neurite outgrowth."
      Ghiani C.A., Starcevic M., Rodriguez-Fernandez I.A., Nazarian R., Cheli V.T., Chan L.N., Malvar J.S., de Vellis J., Sabatti C., Dell'Angelica E.C.
      Mol. Psychiatry 15:204-215(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: ASSOCIATION WITH THE BLOC-1 COMPLEX, INTERACTION WITH BLOC1S6.

    Entry informationi

    Entry nameiSNP47_HUMAN
    AccessioniPrimary (citable) accession number: Q5SQN1
    Secondary accession number(s): B6EDE0
    , Q5HYB5, Q5TBZ3, Q8N558, Q8TB31, Q8TCW8, Q8WV46, Q96CQ3, Q96FE1, Q96I66, Q96NU3, Q9BT10, Q9BVB2
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: October 23, 2007
    Last sequence update: May 26, 2009
    Last modified: October 1, 2014
    This is version 78 of the entry and version 3 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 1
      Human chromosome 1: 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. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3