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Q5SQN1

- SNP47_HUMAN

UniProt

Q5SQN1 - SNP47_HUMAN

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Protein

Synaptosomal-associated protein 47

Gene

SNAP47

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at protein leveli

Functioni

Plays a role in intracellular membrane fusion.By similarity

GO - Biological processi

  1. long-term synaptic potentiation Source: Ensembl
Complete GO annotation...

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. cytoplasm Source: UniProtKB-KW
  2. dendrite Source: Ensembl
  3. membrane Source: UniProtKB-KW
  4. neuronal cell body Source: Ensembl
Complete GO annotation...

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. 8 interactions.

Structurei

3D structure databases

ProteinModelPortaliQ5SQN1.
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.
GeneTreeiENSGT00390000000182.
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

        10         20         30         40         50
MRAARRGLHC AGAERPRRRG RLWDSSGVPQ RQKRPGPWRT QTQEQMSRDV
60 70 80 90 100
CIHTWPCTYY LEPKRRWVTG QLSLTSLSLR FMTDSTGEIL VSFPLSSIVE
110 120 130 140 150
IKKEASHFIF SSITILEKGH AKHWFSSLRP SRNVVFSIIE HFWRELLLSQ
160 170 180 190 200
PGAVADASVP RTRGEELTGL MAGSQKRLED TARVLHHQGQ QLDSVMRGLD
210 220 230 240 250
KMESDLEVAD RLLTELESPA WWPFSSKLWK TPPETKPRED VSMTSCEPFG
260 270 280 290 300
KEGILIKIPA VISHRTESHV KPGRLTVLVS GLEIHDSSSL LMHRFEREDV
310 320 330 340 350
DDIKVHSPYE ISIRQRFIGK PDMAYRLISA KMPEVIPILE VQFSKKMELL
360 370 380 390 400
EDALVLRSAR TSSPAEKSCS VWHAASGLMG RTLHREPPAG DQEGTALHLQ
410 420 430 440 450
TSLPALSEAD TQELTQILRR MKGLALEAES ELERQDEALD GVAAAVDRAT
460
LTIDKHNRRM KRLT
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.Curated

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:
EMBLi
GenBanki
DDBJi
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. [Q5SQN1-1]
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:
EMBLi
GenBanki
DDBJi
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.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 125534. 8 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 . [Q5SQN1-1 ]
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.
GeneTreei ENSGT00390000000182.
HOVERGENi HBG057915.
InParanoidi Q5SQN1.
KOi K18212.
OMAi LEHFWRE.
OrthoDBi EOG70ZZNG.
PhylomeDBi Q5SQN1.
TreeFami TF331066.

Miscellaneous databases

ChiTaRSi SNAP47. human.
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

« Hide 'large scale' publications
  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: November 26, 2014
This is version 80 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