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O95721 (SNP29_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 132. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (3) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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 names
Name:SNAP29
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length258 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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. Ref.8

Subunit structure

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. Ref.8

Subcellular location

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.

Tissue specificity

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

Involvement in disease

Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome (CEDNIK) [MIM:609528]: A neurocutaneous syndrome characterized by cerebral dysgenesis, neuropathy, ichthyosis and palmoplantar keratoderma.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.6

Sequence similarities

Belongs to the SNAP-25 family.

Contains 1 t-SNARE coiled-coil homology domain.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 258258Synaptosomal-associated protein 29
PRO_0000213601

Regions

Domain196 – 25863t-SNARE coiled-coil homology
Coiled coil76 – 10732 Potential

Sequences

Sequence LengthMass (Da)Tools
O95721 [UniParc].

Last modified May 1, 1999. Version 1.
Checksum: 7E1CDBA22D6F5A3C

FASTA25828,970
        10         20         30         40         50         60 
MSAYPKSYNP FDDDGEDEGA RPAPWRDARD LPDGPDAPAD RQQYLRQEVL RRAEATAAST 

        70         80         90        100        110        120 
SRSLALMYES EKVGVASSEE LARQRGVLER TEKMVDKMDQ DLKISQKHIN SIKSVFGGLV 

       130        140        150        160        170        180 
NYFKSKPVET PPEQNGTLTS QPNNRLKEAI STSKEQEAKY QASHPNLRKL DDTDPVPRGA 

       190        200        210        220        230        240 
GSAMSTDAYP KNPHLRAYHQ KIDSNLDELS MGLGRLKDIA LGMQTEIEEQ DDILDRLTTK 

       250 
VDKLDVNIKS TERKVRQL 

« Hide

References

« Hide 'large scale' references
[1]"Three novel proteins of the syntaxin/SNAP-25 family."
Steegmaier M., Yang B., Yoo J.-S., Huang B., Shen M., Yu S., Luo Y., Scheller R.H.
J. Biol. Chem. 273:34171-34179(1998) [PubMed] [Europe PMC] [Abstract]
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]"A genome annotation-driven approach to cloning the human ORFeome."
Collins J.E., Wright C.L., Edwards C.A., Davis M.P., Grinham J.A., Cole C.G., Goward M.E., Aguado B., Mallya M., Mokrab Y., Huckle E.J., Beare D.M., Dunham I.
Genome Biol. 5:R84.1-R84.11(2004) [PubMed] [Europe PMC] [Abstract]
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]"Initial characterization of the human central proteome."
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CCDSCCDS13784.1.
RefSeqNP_004773.1. NM_004782.3.
UniGeneHs.108002.

3D structure databases

ProteinModelPortalO95721.
SMRO95721. Positions 54-110, 203-255.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid114748. 25 interactions.
DIPDIP-56475N.
IntActO95721. 13 interactions.
MINTMINT-3003155.
STRING9606.ENSP00000215730.

PTM databases

PhosphoSiteO95721.

Proteomic databases

MaxQBO95721.
PaxDbO95721.
PeptideAtlasO95721.
PRIDEO95721.

Protocols and materials databases

DNASU9342.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000215730; ENSP00000215730; ENSG00000099940.
GeneID9342.
KEGGhsa:9342.
UCSCuc011ahw.2. human.

Organism-specific databases

CTD9342.
GeneCardsGC22P021213.
HGNCHGNC:11133. SNAP29.
HPACAB037092.
HPA031823.
HPA056492.
MIM604202. gene.
609528. phenotype.
neXtProtNX_O95721.
Orphanet66631. CEDNIK syndrome.
PharmGKBPA35981.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG244202.
HOGENOMHOG000046806.
HOVERGENHBG057045.
InParanoidO95721.
KOK08509.
OMAAYPRSYN.
OrthoDBEOG7FNC8G.
PhylomeDBO95721.
TreeFamTF320226.

Gene expression databases

ArrayExpressO95721.
BgeeO95721.
CleanExHS_SNAP29.
GenevestigatorO95721.

Family and domain databases

InterProIPR000928. SNAP-25.
IPR000727. T_SNARE_dom.
[Graphical view]
PfamPF00835. SNAP-25. 1 hit.
PF05739. SNARE. 1 hit.
[Graphical view]
SMARTSM00397. t_SNARE. 2 hits.
[Graphical view]
PROSITEPS50192. T_SNARE. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiSNAP29.
GenomeRNAi9342.
NextBio34991.
PROO95721.
SOURCESearch...

Entry information

Entry nameSNP29_HUMAN
AccessionPrimary (citable) accession number: O95721
Entry history
Integrated into UniProtKB/Swiss-Prot: May 30, 2000
Last sequence update: May 1, 1999
Last modified: July 9, 2014
This is version 132 of the entry and version 1 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

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human chromosome 22

Human chromosome 22: entries, gene names and cross-references to MIM