SNAPIN SNAP associated protein [Homo sapiens (human)] - Gene

Summary

Official Symbol: SNAPINprovided by HGNC
Official Full Name: SNAP associated proteinprovided by HGNC
Primary source: HGNC:HGNC:17145
See related: Ensembl:ENSG00000143553 MIM:607007; AllianceGenome:HGNC:17145
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: BLOS7; BORCS3; SNAPAP; BLOC1S7
Summary: The protein encoded by this gene is a coiled-coil-forming protein that associates with the SNARE (soluble N-ethylmaleimide-sensitive fusion protein attachment protein receptor) complex of proteins and the BLOC-1 (biogenesis of lysosome-related organelles) complex. Biochemical studies have identified additional binding partners. As part of the SNARE complex, it is required for vesicle docking and fusion and regulates neurotransmitter release. The BLOC-1 complex is required for the biogenesis of specialized organelles such as melanosomes and platelet dense granules. Mutations in gene products that form the BLOC-1 complex have been identified in mouse strains that are models of Hermansky-Pudlak syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2012]
Expression: Ubiquitous expression in fat (RPKM 19.5), heart (RPKM 18.9) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1q21.3

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (153658654..153661852)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (152795919..152799117)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (153631130..153634328)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

SNAPIN Regulates Cell Cycle Progression to Promote Pancreatic beta Cell Growth.
Title: SNAPIN Regulates Cell Cycle Progression to Promote Pancreatic β Cell Growth.
Snapin Specifically Up-Regulates Cav1.3 Ca(2+) Channel Variant with a Long Carboxyl Terminus.
Title: Snapin Specifically Up-Regulates Ca(v)1.3 Ca(2+) Channel Variant with a Long Carboxyl Terminus.
These observations suggest an important role for SNAPIN and autophagy in the homeostasis of macrophages, particularly long-lived tissue resident macrophages.
Title: SNAPIN is critical for lysosomal acidification and autophagosome maturation in macrophages.
These results provide the evidence of a direct regulatory role of Snapin on Cav1.3 channels in atrial myocytes.
Title: Physical and functional interaction of Snapin with Cav1.3 calcium channel impacts channel protein trafficking in atrial myocytes.
Inhibition of Snapin enhanced localization of HIV-1 with TLR8(+) early endosomes, triggered a pro-inflammatory response, and inhibited trans-infection of CD4(+) T cells.
Title: Snapin promotes HIV-1 transmission from dendritic cells by dampening TLR8 signaling.
Taken together, these results suggest that Snapin, the pUL130 interacting protein, has a role in modulating HCMV DNA synthesis.
Title: Host protein Snapin interacts with human cytomegalovirus pUL130 and affects viral DNA replication.
Disruption of Snapin-PKR2 interaction did not affect PKR2 signaling, but increased the ligand-induced degradation, implying a role of Snapin in the trafficking of PKR2.
Title: Snapin interacts with G-protein coupled receptor PKR2.
Authors propose that Snapin connects chlamydial inclusions with the microtubule network by interacting with both Chlamydia psittaci IncB and dynein.
Title: Chlamydia psittaci inclusion membrane protein IncB associates with host protein Snapin.
Snapin, a SNAP-25 (synaptosomal-associated protein-25) interacting protein, interacts with LRRK2.
Title: LRRK2 phosphorylates Snapin and inhibits interaction of Snapin with SNAP-25.
Our findings reveal that Atg14L, previously considered to be solely a Beclin 1-binding autophagy protein, plays a novel role in the late stage of endocytic trafficking in conjunction with Snapin
Title: Beclin-1-interacting autophagy protein Atg14L targets the SNARE-associated protein Snapin to coordinate endocytic trafficking.

Submit: New GeneRIF Correction See all GeneRIFs (20)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Cda0cg07 (e-PCR)
- UniSTS:19335

A007E12 (e-PCR)
- UniSTS:67737

WI-17491 (e-PCR)
- UniSTS:41114

D14S1187 (e-PCR)
- UniSTS:68003

WI-15073 (e-PCR)
- UniSTS:18095

RH12842 (e-PCR)
- UniSTS:73153

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables SNARE binding	IBA Inferred from Biological aspect of Ancestor more info
enables SNARE binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in anterograde axonal transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in anterograde synaptic vesicle transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in autophagosome maturation	IEA Inferred from Electronic Annotation more info
involved_in endosome to lysosome transport	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within endosome to lysosome transport	IGI Inferred from Genetic Interaction more info	PubMed
involved_in intracellular protein transport	IEA Inferred from Electronic Annotation more info
involved_in late endosome to lysosome transport	IEA Inferred from Electronic Annotation more info
involved_in lysosomal lumen acidification	IEA Inferred from Electronic Annotation more info
involved_in lysosome localization	IBA Inferred from Biological aspect of Ancestor more info
involved_in lysosome localization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in lysosome localization	NAS Non-traceable Author Statement more info	PubMed
involved_in lysosome organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in melanosome organization	NAS Non-traceable Author Statement more info	PubMed
involved_in negative regulation of neuron projection development	IEA Inferred from Electronic Annotation more info
involved_in neuron cellular homeostasis	IEA Inferred from Electronic Annotation more info
involved_in neuron projection development	ISS Inferred from Sequence or Structural Similarity more info
involved_in neurotransmitter secretion	TAS Traceable Author Statement more info	PubMed
involved_in organelle transport along microtubule	NAS Non-traceable Author Statement more info	PubMed
involved_in positive regulation of late endosome to lysosome transport	TAS Traceable Author Statement more info	PubMed
involved_in protein maturation	IEA Inferred from Electronic Annotation more info
involved_in protein-containing complex localization	IEA Inferred from Electronic Annotation more info
involved_in regulation of endosome size	NAS Non-traceable Author Statement more info	PubMed
involved_in regulation of lysosome size	NAS Non-traceable Author Statement more info	PubMed
involved_in regulation of protein binding	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in retrograde axonal transport	IEA Inferred from Electronic Annotation more info
involved_in synaptic vesicle exocytosis	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within synaptic vesicle exocytosis	IDA Inferred from Direct Assay more info	PubMed
involved_in synaptic vesicle fusion to presynaptic active zone membrane	IEA Inferred from Electronic Annotation more info
involved_in synaptic vesicle maturation	IEA Inferred from Electronic Annotation more info
involved_in synaptic vesicle transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in synaptic vesicle transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in terminal button organization	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
part_of BLOC-1 complex	IBA Inferred from Biological aspect of Ancestor more info
part_of BLOC-1 complex	IDA Inferred from Direct Assay more info	PubMed
part_of BLOC-1 complex	IPI Inferred from Physical Interaction more info	PubMed
part_of BORC complex	IDA Inferred from Direct Assay more info	PubMed
part_of BORC complex	IPI Inferred from Physical Interaction more info	PubMed
located_in Golgi membrane	IEA Inferred from Electronic Annotation more info
located_in acrosomal vesicle	IEA Inferred from Electronic Annotation more info
located_in axon cytoplasm	IEA Inferred from Electronic Annotation more info
located_in cytoplasmic side of lysosomal membrane	NAS Non-traceable Author Statement more info	PubMed
located_in cytosol	IEA Inferred from Electronic Annotation more info
located_in manchette	IEA Inferred from Electronic Annotation more info
located_in microvesicle	IEA Inferred from Electronic Annotation more info
located_in perinuclear region of cytoplasm	IDA Inferred from Direct Assay more info	PubMed
is_active_in secretory granule	IBA Inferred from Biological aspect of Ancestor more info
located_in secretory granule	ISS Inferred from Sequence or Structural Similarity more info
located_in synapse	IDA Inferred from Direct Assay more info	PubMed
is_active_in synaptic vesicle	IBA Inferred from Biological aspect of Ancestor more info
located_in synaptic vesicle	IDA Inferred from Direct Assay more info	PubMed
located_in synaptic vesicle membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: SNARE-associated protein Snapin

Names: BLOC-1 related complex subunit 3; BLOC-1 subunit 7; SNAP-25-binding protein; SNARE associated protein snapin; biogenesis of lysosomal organelles complex-1, subunit 7; biogenesis of lysosome-related organelles complex 1 subunit 7; synaptosomal-associated protein 25-binding protein

NCBI Reference Sequences (RefSeq)

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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.

mRNA and Protein(s)

NM_012437.6 → NP_036569.1 SNARE-associated protein Snapin

See identical proteins and their annotated locations for NP_036569.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the supported protein.

Source sequence(s)

AI018675, BC000761, BI117540

Consensus CDS

CCDS1049.1

UniProtKB/Swiss-Prot

D3DV56, O95295, Q5SXU8

Related

ENSP00000357674.5, ENST00000368685.6

Conserved Domains (1) summary

pfam14712
Location:23 → 110

Snapin_Pallidin; Snapin/Pallidin

RNA

NR_052019.1 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an alternate internal exon, compared to variant 1. This variant is represented as non-coding because the use of the supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AI018675, BC000761, BI117540, CD671119

Related

ENST00000462880.1
NR_052020.1 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (3) uses an alternate splice site and lacks an alternate internal exon, compared to variant 1. This variant is represented as non-coding because the use of the supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AI018675, BC000761, BE278772, BI117540