SNAP29 synaptosome associated protein 29 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SNAP29provided by HGNC
Official Full Name: synaptosome associated protein 29provided by HGNC
Primary source: HGNC:HGNC:11133
See related: Ensembl:ENSG00000099940 MIM:604202; AllianceGenome:HGNC:11133
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: CEDNIK; SNAP-29
Summary: 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 docking and fusion to the plasma membrane. The protein encoded by this gene binds tightly to multiple syntaxins and is localized to intracellular membrane structures rather than to the plasma membrane. While the protein is mostly membrane-bound, a significant fraction of it is found free in the cytoplasm. Use of multiple polyadenylation sites has been noted for this gene. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in testis (RPKM 9.3), brain (RPKM 8.1) and 25 other tissues See more
Orthologs: mouse all
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

Location:: 22q11.21

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	22	NC_000022.11 (20859007..20891214)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	22	NC_060946.1 (21267728..21299920)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	22	NC_000022.10 (21213295..21245502)

Chromosome 22 - NC_000022.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help

See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Human YKT6 forms priming complex with STX17 and SNAP29 to facilitate autophagosome-lysosome fusion.
Title: Human YKT6 forms priming complex with STX17 and SNAP29 to facilitate autophagosome-lysosome fusion.
SNARE-binding protein synaptosomal-associated protein of 29 kDa (SNAP29) regulates the intracellular sequestration of glucose transporter 4 (GLUT4) vesicles in adipocytes.
Title: SNARE-binding protein synaptosomal-associated protein of 29 kDa (SNAP29) regulates the intracellular sequestration of glucose transporter 4 (GLUT4) vesicles in adipocytes.
Snapshots from within the cell: Novel trafficking and non trafficking functions of Snap29 during tissue morphogenesis.
Title: Snapshots from within the cell: Novel trafficking and non trafficking functions of Snap29 during tissue morphogenesis.
Alpha-Synuclein defects autophagy by impairing SNAP29-mediated autophagosome-lysosome fusion.
Title: Alpha-Synuclein defects autophagy by impairing SNAP29-mediated autophagosome-lysosome fusion.
Generation and Characterization of a CRISPR/Cas9-Mediated SNAP29 Knockout in Human Fibroblasts.
Title: Generation and Characterization of a CRISPR/Cas9-Mediated SNAP29 Knockout in Human Fibroblasts.
Silencing DAPK3 blocks the autophagosome-lysosome fusion by mediating SNAP29 in trophoblast cells under high glucose treatment.
Title: Silencing DAPK3 blocks the autophagosome-lysosome fusion by mediating SNAP29 in trophoblast cells under high glucose treatment.
Decoding three distinct states of the Syntaxin17 SNARE motif in mediating autophagosome-lysosome fusion.
Title: Decoding three distinct states of the Syntaxin17 SNARE motif in mediating autophagosome-lysosome fusion.
autophagic degradation critically determines the production of HBV virions and HBsAg; this is controlled by the SNAP29-VAMP8 interaction
Title: Synaptosomal-associated protein 29 is required for the autophagic degradation of hepatitis B virus.
These findings suggest that down-regulation of OGT enhances cisplatin-induced autophagy via SNAP-29, resulting in cisplatin-resistant ovarian cancer.
Title: Down-regulation of OGT promotes cisplatin resistance by inducing autophagy in ovarian cancer.
NEK3 kinase phosphorylates SNAP29 on its serine 105. NEK3-mediated phosphorylation determines membrane localization of SNAP29. Membrane-associated SNAP29 regulates Golgi and focal adhesion structures.
Title: NEK3-mediated SNAP29 phosphorylation modulates its membrane association and SNARE fusion dependent processes.

Submit: New GeneRIF Correction See all GeneRIFs (20)

Phenotypes

Go to the top of the page Help

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
CEDNIK syndrome MedGen: C1836033 OMIM: 609528 GeneReviews: Not available	not available

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

Go to the top of the page Help

Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

Go to the top of the page Help

Markers

D22S1201 (e-PCR)
- UniSTS:57362

RH101941 (e-PCR)
- UniSTS:96276

L18426 (e-PCR)
- UniSTS:34648

D1S1423 (e-PCR)
- UniSTS:149619

RH68848 (e-PCR)
- UniSTS:6782

SHGC-82177 (e-PCR)
- UniSTS:103084

SNAP29__6871 (e-PCR)
- UniSTS:468708

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables SNAP receptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables syntaxin binding	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in autophagosome maturation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in autophagosome membrane docking	IDA Inferred from Direct Assay more info	PubMed
involved_in cilium assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in exocytosis	IBA Inferred from Biological aspect of Ancestor more info
involved_in membrane fusion	TAS Traceable Author Statement more info	PubMed
involved_in protein transport	IEA Inferred from Electronic Annotation more info
involved_in synaptic vesicle fusion to presynaptic active zone membrane	IBA Inferred from Biological aspect of Ancestor more info
involved_in synaptic vesicle priming	IBA Inferred from Biological aspect of Ancestor more info
involved_in vesicle targeting	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in Golgi membrane	TAS Traceable Author Statement more info
part_of SNARE complex	IBA Inferred from Biological aspect of Ancestor more info
part_of SNARE complex	IDA Inferred from Direct Assay more info	PubMed
located_in autophagosome	ISS Inferred from Sequence or Structural Similarity more info
located_in autophagosome membrane	IEA Inferred from Electronic Annotation more info
located_in azurophil granule membrane	TAS Traceable Author Statement more info
located_in centrosome	IDA Inferred from Direct Assay more info
located_in ciliary pocket membrane	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info
located_in mitochondrion	HTP more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	TAS Traceable Author Statement more info
located_in presynapse	IEA Inferred from Electronic Annotation more info

General protein information

Go to the top of the page Help

Preferred Names: synaptosomal-associated protein 29

Names: cerebral dysgenesis, neuropathy, ichthyosis and keratoderma syndrome; soluble 29 kDa NSF attachment protein; synaptosomal-associated protein, 29kD; synaptosomal-associated protein, 29kDa; synaptosome associated protein 29kDa; vesicle-membrane fusion protein SNAP-29

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_012152.1 RefSeqGene

Range

5004..37211

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_004782.4 → NP_004773.1 synaptosomal-associated protein 29

Status: REVIEWED

Source sequence(s)

AC007308, AF115436, BG773022, CA427899

Consensus CDS

CCDS13784.1

UniProtKB/Swiss-Prot

O95721

Related

ENSP00000215730.6, ENST00000215730.12

Conserved Domains (2) summary

cd15856
Location:199 → 257

SNARE_SNAP29C; C-terminal SNARE motif of SNAP29

cd15887
Location:47 → 111

SNARE_SNAP29N; N-terminal SNARE motif of SNAP29