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Protein

Synaptosomal-associated protein 47

Gene

SNAP47

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

Functioni

Plays a role in intracellular membrane fusion.By similarity

GO - Molecular functioni

GO - Biological processi

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
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

EuPathDBiHostDB:ENSG00000143740.14
HGNCiHGNC:30669 SNAP47
neXtProtiNX_Q5SQN1

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Membrane

Pathology & Biotechi

Organism-specific databases

DisGeNETi116841
OpenTargetsiENSG00000143740
PharmGKBiPA164725983

Polymorphism and mutation databases

BioMutaiSNAP47
DMDMi238054367

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003071511 – 464Synaptosomal-associated protein 47Add BLAST464

Proteomic databases

MaxQBiQ5SQN1
PaxDbiQ5SQN1
PeptideAtlasiQ5SQN1
PRIDEiQ5SQN1

PTM databases

iPTMnetiQ5SQN1
PhosphoSitePlusiQ5SQN1

Expressioni

Gene expression databases

BgeeiENSG00000143740
CleanExiHS_SNAP47
ExpressionAtlasiQ5SQN1 baseline and differential
GenevisibleiQ5SQN1 HS

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

Binary interactionsi

Show more details

GO - Molecular functioni

Protein-protein interaction databases

BioGridi125534, 28 interactors
IntActiQ5SQN1, 28 interactors
STRINGi9606.ENSP00000355721

Structurei

3D structure databases

ProteinModelPortaliQ5SQN1
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini154 – 216t-SNARE coiled-coil homology 1PROSITE-ProRule annotationAdd BLAST63
Domaini401 – 463t-SNARE coiled-coil homology 2PROSITE-ProRule annotationAdd BLAST63

Sequence similaritiesi

Belongs to the SVAP1 family.Curated

Keywords - Domaini

Coiled coil, Repeat

Phylogenomic databases

eggNOGiKOG3065 Eukaryota
ENOG410Y3Y0 LUCA
GeneTreeiENSGT00390000000182
HOVERGENiHBG057915
InParanoidiQ5SQN1
KOiK18212
OMAiQGEQFDN
OrthoDBiEOG091G0TY9
PhylomeDBiQ5SQN1
TreeFamiTF331066

Family and domain databases

Gene3Di2.30.29.30, 1 hit
InterProiView protein in InterPro
IPR011993 PH-like_dom_sf
IPR000727 T_SNARE_dom
PROSITEiView protein in PROSITE
PS50192 T_SNARE, 2 hits

Sequences (4)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

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 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti84 – 86DST → TRP in AAH01332 (PubMed:15489334).Curated3

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03536748R → G. Corresponds to variant dbSNP:rs2236359Ensembl.1
Natural variantiVAR_035368119G → R1 PublicationCorresponds to variant dbSNP:rs12239037Ensembl.1
Natural variantiVAR_035369154V → M2 PublicationsCorresponds to variant dbSNP:rs2236358Ensembl.1
Natural variantiVAR_035370381R → C2 PublicationsCorresponds to variant dbSNP:rs17851681Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0286131 – 242Missing in isoform 3 and isoform 4. 2 PublicationsAdd BLAST242
Alternative sequenceiVSP_028614417 – 464ILRRM…MKRLT → GFRPMSLSTQTVLVMLCSES AGALWRQRLS in isoform 2 and isoform 3. 2 PublicationsAdd BLAST48

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY090635 mRNA Translation: AAM09082.1
BX648570 mRNA Translation: CAI45994.1
AL136378 Genomic DNA No translation available.
AL731702 Genomic DNA No translation available.
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_001310864.1, NM_001323935.1 [Q5SQN1-2]
NP_444280.2, NM_053052.3 [Q5SQN1-1]
XP_016855720.1, XM_017000231.1 [Q5SQN1-1]
XP_016855721.1, XM_017000232.1 [Q5SQN1-1]
UniGeneiHs.325081
Hs.745334

Genome annotation databases

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

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

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 historyiIntegrated into UniProtKB/Swiss-Prot: October 23, 2007
Last sequence update: May 26, 2009
Last modified: May 23, 2018
This is version 111 of the entry and version 3 of the sequence. See 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

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