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Q5SQN1 (SNP47_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 77. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Synaptosomal-associated protein 47

Short name=SNAP-47
Alternative name(s):
Epididymis luminal protein 170
Synaptosomal-associated 47 kDa protein
Gene names
Name:SNAP47
Synonyms:C1orf142, HEL170, SVAP1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length464 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Plays a role in intracellular membrane fusion By similarity.

Subunit structure

Forms a complex containing SNAP47, VAMP2 and STX1A By similarity. Associates with the BLOC-1 complex. Interacts with BLOC1S6. Ref.8

Subcellular location

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

Sequence similarities

Belongs to the SVAP1 family.

Contains 2 t-SNARE coiled-coil homology domains.

Sequence caution

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

Ontologies

Keywords
   Cellular componentCytoplasm
Membrane
   Coding sequence diversityAlternative splicing
Polymorphism
   DomainCoiled coil
Repeat
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Cellular_componentendomembrane system

Inferred from electronic annotation. Source: UniProtKB-SubCell

membrane

Inferred from electronic annotation. Source: UniProtKB-KW

perinuclear region of cytoplasm

Inferred from electronic annotation. Source: UniProtKB-SubCell

   Molecular_functionprotein binding

Inferred from physical interaction Ref.8. Source: UniProtKB

Complete GO annotation...

Alternative products

This entry describes 4 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q5SQN1-1)

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.
Isoform 2 (identifier: Q5SQN1-2)

The sequence of this isoform differs from the canonical sequence as follows:
     417-464: ILRRMKGLAL...KHNRRMKRLT → GFRPMSLSTQTVLVMLCSESAGALWRQRLS
Isoform 3 (identifier: Q5SQN1-3)

The sequence of this isoform differs from the canonical sequence as follows:
     1-242: Missing.
     417-464: ILRRMKGLAL...KHNRRMKRLT → GFRPMSLSTQTVLVMLCSESAGALWRQRLS
Isoform 4 (identifier: Q5SQN1-4)

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 464464Synaptosomal-associated protein 47
PRO_0000307151

Regions

Domain154 – 21663t-SNARE coiled-coil homology 1
Domain401 – 46363t-SNARE coiled-coil homology 2

Natural variations

Alternative sequence1 – 242242Missing in isoform 3 and isoform 4.
VSP_028613
Alternative sequence417 – 46448ILRRM…MKRLT → GFRPMSLSTQTVLVMLCSES AGALWRQRLS in isoform 2 and isoform 3.
VSP_028614
Natural variant481R → G.
Corresponds to variant rs2236359 [ dbSNP | Ensembl ].
VAR_035367
Natural variant1191G → R. Ref.5
Corresponds to variant rs12239037 [ dbSNP | Ensembl ].
VAR_035368
Natural variant1541V → M. Ref.1 Ref.5
Corresponds to variant rs2236358 [ dbSNP | Ensembl ].
VAR_035369
Natural variant3811R → C. Ref.5 Ref.6
Corresponds to variant rs17851681 [ dbSNP | Ensembl ].
VAR_035370

Experimental info

Sequence conflict84 – 863DST → TRP in AAH01332. Ref.5

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified May 26, 2009. Version 3.
Checksum: FC4061061B0042ED

FASTA46452,562
        10         20         30         40         50         60 
MRAARRGLHC AGAERPRRRG RLWDSSGVPQ RQKRPGPWRT QTQEQMSRDV CIHTWPCTYY 

        70         80         90        100        110        120 
LEPKRRWVTG QLSLTSLSLR FMTDSTGEIL VSFPLSSIVE IKKEASHFIF SSITILEKGH 

       130        140        150        160        170        180 
AKHWFSSLRP SRNVVFSIIE HFWRELLLSQ PGAVADASVP RTRGEELTGL MAGSQKRLED 

       190        200        210        220        230        240 
TARVLHHQGQ QLDSVMRGLD KMESDLEVAD RLLTELESPA WWPFSSKLWK TPPETKPRED 

       250        260        270        280        290        300 
VSMTSCEPFG KEGILIKIPA VISHRTESHV KPGRLTVLVS GLEIHDSSSL LMHRFEREDV 

       310        320        330        340        350        360 
DDIKVHSPYE ISIRQRFIGK PDMAYRLISA KMPEVIPILE VQFSKKMELL EDALVLRSAR 

       370        380        390        400        410        420 
TSSPAEKSCS VWHAASGLMG RTLHREPPAG DQEGTALHLQ TSLPALSEAD TQELTQILRR 

       430        440        450        460 
MKGLALEAES ELERQDEALD GVAAAVDRAT LTIDKHNRRM KRLT 

« Hide

Isoform 2 [UniParc].

Checksum: 1E3234C0CA9733F8
Show »

FASTA44650,426
Isoform 3 [UniParc].

Checksum: 4B47342BDE0CCACB
Show »

FASTA20422,643
Isoform 4 [UniParc].

Checksum: 67C964BEFAD2D416
Show »

FASTA22224,779

References

« Hide 'large scale' references
[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]"The full-ORF clone resource of the German cDNA consortium."
Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I.
BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]
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. expand/collapse author list , 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]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. expand/collapse author list , 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 (JUL-2005) to the EMBL/GenBank/DDBJ databases
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. expand/collapse author list , 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.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CCDSCCDS1562.1. [Q5SQN1-1]
RefSeqNP_444280.2. NM_053052.3. [Q5SQN1-1]
XP_005273101.1. XM_005273044.1. [Q5SQN1-4]
UniGeneHs.325081.

3D structure databases

ProteinModelPortalQ5SQN1.
SMRQ5SQN1. Positions 165-216, 408-460.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid125534. 2 interactions.

PTM databases

PhosphoSiteQ5SQN1.

Polymorphism databases

DMDM238054367.

Proteomic databases

MaxQBQ5SQN1.
PaxDbQ5SQN1.
PRIDEQ5SQN1.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000315781; ENSP00000314157; ENSG00000143740. [Q5SQN1-2]
ENST00000366759; ENSP00000355721; ENSG00000143740. [Q5SQN1-1]
ENST00000366760; ENSP00000355722; ENSG00000143740. [Q5SQN1-4]
GeneID116841.
KEGGhsa:116841.
UCSCuc001hra.2. human. [Q5SQN1-4]
uc001hrd.3. human. [Q5SQN1-2]
uc001hre.3. human. [Q5SQN1-3]
uc001hrf.2. human. [Q5SQN1-1]

Organism-specific databases

CTD116841.
GeneCardsGC01P227917.
H-InvDBHIX0023151.
HGNCHGNC:30669. SNAP47.
HPAHPA028167.
neXtProtNX_Q5SQN1.
PharmGKBPA164725983.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG261157.
HOVERGENHBG057915.
InParanoidQ5SQN1.
KOK18212.
OMALEHFWRE.
OrthoDBEOG70ZZNG.
PhylomeDBQ5SQN1.
TreeFamTF331066.

Gene expression databases

BgeeQ5SQN1.
CleanExHS_SNAP47.
GenevestigatorQ5SQN1.

Family and domain databases

InterProIPR000727. T_SNARE_dom.
[Graphical view]
PROSITEPS50192. T_SNARE. 2 hits.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi116841.
NextBio80008.
PROQ5SQN1.

Entry information

Entry nameSNP47_HUMAN
AccessionPrimary (citable) accession number: Q5SQN1
Secondary accession number(s): B6EDE0 expand/collapse secondary AC list , Q5HYB5, Q5TBZ3, Q8N558, Q8TB31, Q8TCW8, Q8WV46, Q96CQ3, Q96FE1, Q96I66, Q96NU3, Q9BT10, Q9BVB2
Entry history
Integrated into UniProtKB/Swiss-Prot: October 23, 2007
Last sequence update: May 26, 2009
Last modified: July 9, 2014
This is version 77 of the entry and version 3 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 1

Human chromosome 1: entries, gene names and cross-references to MIM