• Gene id: 9342

Gene Summary

• Gene Symbol: SNAP29   Gene   UCSC   Ensembl
• Aliases: CEDNIK, SNAP-29
• Gene name: synaptosome associated protein 29
• Alternate names: synaptosomal-associated protein 29, soluble 29 kDa NSF attachment protein, synaptosomal-associated protein, 29kD, synaptosomal-associated protein, 29kDa, synaptosome associated protein 29kDa, vesicle-membrane fusion protein SNAP-29,
• Gene location: 22q11.21 (20859006: 20891213)     Exons: 5     NC_000022.11
• Gene summary(Entrez): This gene, a member of the SNAP25 gene family, encodes a protein involved in multiple membrane trafficking steps. Two other members of this gene family, SNAP23 and SNAP25, encode proteins that bind a syntaxin protein and mediate synaptic vesicle membrane
• OMIM: 604202

SNPs

rs875989885

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000010.11   g.133555706G>A
NC_000010.10   g.135369210G>A
NG_052008.1   g.17570C>T
NM_130784.3   c.613C>T
NM_130784.2   c.613C>T
NM_001143764.2   c.721C>T
NM_001143764.3   c.721C>T
NM_001143764.1   c.721C>T
NM_001143763.1   c.721C>T
NP_570140.1   p.Gln205Ter
NP_001137  

rs774225566

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000010.11   g.133558953T>C
NC_000010.10   g.135372457T>C
NG_052008.1   g.14323A>G|SEQ=[T/C]|GENE=SYCE1

Protein Summary

• Protein general information: O95721  
  • Name: Synaptosomal associated protein 29 (SNAP 29) (Soluble 29 kDa NSF attachment protein) (Vesicle membrane fusion protein SNAP 29)
  • Length: 258  
  • Mass: 28970
  • Tissue specificity: Found in brain, heart, kidney, liver, lung, placenta, skeletal muscle, spleen and pancreas. {ECO
• Sequence:

  MSAYPKSYNPFDDDGEDEGARPAPWRDARDLPDGPDAPADRQQYLRQEVLRRAEATAASTSRSLALMYESEKVGV
  ASSEELARQRGVLERTEKMVDKMDQDLKISQKHINSIKSVFGGLVNYFKSKPVETPPEQNGTLTSQPNNRLKEAI
  STSKEQEAKYQASHPNLRKLDDTDPVPRGAGSAMSTDAYPKNPHLRAYHQKIDSNLDELSMGLGRLKDIALGMQT
  EIEEQDDILDRLTTKVDKLDVNIKSTERKVRQL

• Structural information:
  • Protein Domains: (196..25-)
    homology (/note="t-SNARE-coiled-coil)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00202"-)
  • Interpro: IPR000727  
  • Prosite: PS50192
  • PDB: 4WY4
  • PDBsum: 4WY4
  • DIP: 56475
  • STRING: ENSP00000215730
• Other Databases: GeneCards:  SNAP29  Malacards:  SNAP29

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006906	vesicle fusion	IBA	biological process
GO:0016082	synaptic vesicle priming	IBA	biological process
GO:0031201	SNARE complex	IBA	cellular component
GO:0005484	SNAP receptor activity	IBA	molecular function
GO:0005886	plasma membrane	IBA	cellular component
GO:0006887	exocytosis	IBA	biological process
GO:0019905	syntaxin binding	IBA	molecular function
GO:0031629	synaptic vesicle fusion to presynaptic active zone membrane	IBA	biological process
GO:0020018	ciliary pocket membrane	IDA	cellular component
GO:0031201	SNARE complex	IDA	cellular component
GO:0060271	cilium assembly	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005776	autophagosome	ISS	cellular component
GO:0097352	autophagosome maturation	IMP	biological process
GO:0030030	cell projection organization	IEA	biological process
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0042995	cell projection	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0005929	cilium	IEA	cellular component
GO:0006914	autophagy	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0015031	protein transport	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005484	SNAP receptor activity	TAS	molecular function
GO:0005886	plasma membrane	TAS	cellular component
GO:0006887	exocytosis	TAS	biological process
GO:0006903	vesicle targeting	TAS	biological process
GO:0061025	membrane fusion	TAS	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0035577	azurophil granule membrane	TAS	cellular component
GO:0043312	neutrophil degranulation	TAS	biological process
GO:0000139	Golgi membrane	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005776	autophagosome	IEA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0000139	Golgi membrane	IEA	cellular component
GO:0000421	autophagosome membrane	IEA	cellular component
GO:0060170	ciliary membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005813	centrosome	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0016240	autophagosome membrane docking	IDA	biological process
GO:0098793	presynapse	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04140	Autophagy - animal
hsa04130	SNARE interactions in vesicular transport

Diseases

Associated diseases	References
CEDNIK syndrome	KEGG:H00799
CEDNIK syndrome	KEGG:H00799
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Hypospermatogenesis	MIK: 28361989
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray