O95721 (SNP29_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended 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

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	258 AA.
Sequence status	Complete.
Protein existence	Evidence 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.
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.
Subcellular location	Cytoplasm. Membrane; Peripheral membrane protein. Cell junction › synapse › synaptosome. 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.

Ontologies

Keywords
Biological process	Autophagy Protein transport Transport
Cellular component	Cell junction Cytoplasm Membrane Synapse Synaptosome
Disease	Ichthyosis Palmoplantar keratoderma
Domain	Coiled coil
PTM	Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	autophagic vacuole fusion Inferred from mutant phenotype Ref.8. Source: UniProtKB exocytosis Traceable author statement PubMed 10839363. Source: ProtInc protein transport Inferred from electronic annotation. Source: UniProtKB-KW vesicle targeting Traceable author statement Ref.1. Source: ProtInc
Cellular_component	SNARE complex Inferred from direct assay Ref.8. Source: UniProtKB cell junction Inferred from electronic annotation. Source: UniProtKB-KW neuron projection Inferred from electronic annotation. Source: UniProtKB-SubCell nucleus Inferred from direct assay. Source: HPA plasma membrane Traceable author statement Ref.1. Source: ProtInc synapse Inferred from electronic annotation. Source: UniProtKB-KW
Molecular_function	SNAP receptor activity Traceable author statement PubMed 10839363. Source: ProtInc
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 258	258	Synaptosomal-associated protein 29		PRO_0000213601
Regions
	Domain	196 – 258	63	t-SNARE coiled-coil homology
	Coiled coil	76 – 107	32	Potential
Amino acid modifications
	Modified residue	210	1	Phosphoserine By similarity

Sequences

	Sequence		Length	Mass (Da)
	O95721 [UniParc]. Last modified May 1, 1999. Version 1. Checksum: 7E1CDBA22D6F5A3C	FASTA	258	28,970
	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

References

	« Hide 'large scale' referencesShow '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.
IPI	IPI00032831.
RefSeq	NP_004773.1. NM_004782.3.
UniGene	Hs.108002.
3D structure databases
ProteinModelPortal	O95721.
SMR	O95721. Positions 54-111, 203-255.
ModBase	Search...
Protein-protein interaction databases
IntAct	O95721. 12 interactions.
MINT	MINT-3003155.
STRING	9606.ENSP00000215730.
PTM databases
PhosphoSite	O95721.
Proteomic databases
PaxDb	O95721.
PeptideAtlas	O95721.
PRIDE	O95721.
Protocols and materials databases
DNASU	9342.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000215730; ENSP00000215730; ENSG00000099940.
GeneID	9342.
KEGG	hsa:9342.
UCSC	uc011ahw.2. human.
Organism-specific databases
CTD	9342.
GeneCards	GC22P021213.
HGNC	HGNC:11133. SNAP29.
HPA	HPA031823.
MIM	604202. gene. 609528. phenotype.
neXtProt	NX_O95721.
Orphanet	66631. CEDNIK syndrome.
PharmGKB	PA35981.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG244202.
HOGENOM	HOG000046806.
HOVERGEN	HBG057045.
InParanoid	O95721.
KO	K08509.
OMA	RPAPWRD.
OrthoDB	EOG4FFD2R.
PhylomeDB	O95721.
Gene expression databases
ArrayExpress	O95721.
Bgee	O95721.
CleanEx	HS_SNAP29.
Genevestigator	O95721.
GermOnline	ENSG00000099940. Homo sapiens.
Family and domain databases
InterPro	IPR000928. SNAP-25. IPR000727. T_SNARE_dom. [Graphical view]
Pfam	PF00835. SNAP-25. 1 hit. PF05739. SNARE. 1 hit. [Graphical view]
SMART	SM00397. t_SNARE. 2 hits. [Graphical view]
PROSITE	PS50192. T_SNARE. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	9342.
NextBio	34991.
SOURCE	Search...

Entry information

Entry name

SNP29_HUMAN

Accession

Primary (citable) accession number: O95721

Entry history

Integrated into UniProtKB/Swiss-Prot:	May 30, 2000
Last sequence update:	May 1, 1999
Last modified:	May 29, 2013
This is version 122 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.