SNAPIN (SNAP associated protein)

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Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases Related genes Diseases linked via similar genes

Gene

• Entrez ID: 23557
• Gene name: SNAP associated protein
• Gene symbol: SNAPIN
• Synonyms (NCBI Gene): BLOC1S7, BLOS7, BORCS3, SNAPAP
• Chromosome: 1
• Chromosome location: 1q21.3
• 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)

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1060499751	C>T	Likely-pathogenic	Missense variant, intron variant, coding sequence variant

miRNA Show/Hide all (220)

miRTarBase ID	miRNA	Experiments	Reference
MIRT005274	hsa-miR-1-3p	pSILAC	18668040
MIRT020208	hsa-miR-130b-3p	Sequencing	20371350
MIRT005274	hsa-miR-1-3p	Proteomics;Other	18668040
MIRT025889	hsa-miR-7-5p	Microarray	19073608
MIRT025994	hsa-miR-148a-3p	Sequencing	20371350
MIRT028014	hsa-miR-93-5p	Sequencing	20371350
MIRT031126	hsa-miR-19b-3p	Sequencing	20371350
MIRT043762	hsa-miR-328-3p	CLASH	23622248
MIRT467466	hsa-miR-548az-5p	PAR-CLIP	23592263
MIRT467465	hsa-miR-548t-5p	PAR-CLIP	23592263
MIRT467464	hsa-miR-4796-3p	PAR-CLIP	23592263
MIRT467463	hsa-miR-4676-5p	PAR-CLIP	23592263
MIRT467462	hsa-miR-575	PAR-CLIP	23592263
MIRT467461	hsa-miR-130a-3p	PAR-CLIP	23592263
MIRT020208	hsa-miR-130b-3p	PAR-CLIP	23592263
MIRT467460	hsa-miR-301a-3p	PAR-CLIP	23592263
MIRT467459	hsa-miR-301b-3p	PAR-CLIP	23592263
MIRT467458	hsa-miR-3666	PAR-CLIP	23592263
MIRT467457	hsa-miR-4295	PAR-CLIP	23592263
MIRT467456	hsa-miR-454-3p	PAR-CLIP	23592263
MIRT467455	hsa-miR-95-5p	PAR-CLIP	23592263
MIRT467454	hsa-miR-4257	PAR-CLIP	23592263
MIRT025994	hsa-miR-148a-3p	PAR-CLIP	23592263
MIRT467453	hsa-miR-148b-3p	PAR-CLIP	23592263
MIRT467452	hsa-miR-152-3p	PAR-CLIP	23592263
MIRT467451	hsa-miR-1825	PAR-CLIP	23592263
MIRT467450	hsa-miR-363-5p	PAR-CLIP	23592263
MIRT467448	hsa-miR-6745	PAR-CLIP	23592263
MIRT467449	hsa-miR-6756-5p	PAR-CLIP	23592263
MIRT467447	hsa-miR-6766-5p	PAR-CLIP	23592263
MIRT467446	hsa-miR-1293	PAR-CLIP	23592263
MIRT467445	hsa-miR-4483	PAR-CLIP	23592263
MIRT467444	hsa-miR-8071	PAR-CLIP	23592263
MIRT467443	hsa-miR-3138	PAR-CLIP	23592263
MIRT467442	hsa-miR-6748-5p	PAR-CLIP	23592263
MIRT467441	hsa-miR-4520-3p	PAR-CLIP	23592263
MIRT439574	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT439574	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT467466	hsa-miR-548az-5p	PAR-CLIP	23592263
MIRT467465	hsa-miR-548t-5p	PAR-CLIP	23592263
MIRT467464	hsa-miR-4796-3p	PAR-CLIP	23592263
MIRT467463	hsa-miR-4676-5p	PAR-CLIP	23592263
MIRT467462	hsa-miR-575	PAR-CLIP	23592263
MIRT467461	hsa-miR-130a-3p	PAR-CLIP	23592263
MIRT020208	hsa-miR-130b-3p	PAR-CLIP	23592263
MIRT467460	hsa-miR-301a-3p	PAR-CLIP	23592263
MIRT467459	hsa-miR-301b-3p	PAR-CLIP	23592263
MIRT467458	hsa-miR-3666	PAR-CLIP	23592263
MIRT467457	hsa-miR-4295	PAR-CLIP	23592263
MIRT467456	hsa-miR-454-3p	PAR-CLIP	23592263
MIRT467455	hsa-miR-95-5p	PAR-CLIP	23592263
MIRT467454	hsa-miR-4257	PAR-CLIP	23592263
MIRT025994	hsa-miR-148a-3p	PAR-CLIP	23592263
MIRT467453	hsa-miR-148b-3p	PAR-CLIP	23592263
MIRT467452	hsa-miR-152-3p	PAR-CLIP	23592263
MIRT467451	hsa-miR-1825	PAR-CLIP	23592263
MIRT467450	hsa-miR-363-5p	PAR-CLIP	23592263
MIRT467448	hsa-miR-6745	PAR-CLIP	23592263
MIRT467449	hsa-miR-6756-5p	PAR-CLIP	23592263
MIRT467447	hsa-miR-6766-5p	PAR-CLIP	23592263
MIRT467446	hsa-miR-1293	PAR-CLIP	23592263
MIRT467445	hsa-miR-4483	PAR-CLIP	23592263
MIRT467444	hsa-miR-8071	PAR-CLIP	23592263
MIRT467443	hsa-miR-3138	PAR-CLIP	23592263
MIRT467442	hsa-miR-6748-5p	PAR-CLIP	23592263
MIRT467441	hsa-miR-4520-3p	PAR-CLIP	23592263
MIRT1375300	hsa-miR-101	CLIP-seq
MIRT1375301	hsa-miR-1183	CLIP-seq
MIRT1375302	hsa-miR-1207-3p	CLIP-seq
MIRT1375303	hsa-miR-1253	CLIP-seq
MIRT1375304	hsa-miR-1301	CLIP-seq
MIRT1375305	hsa-miR-130a	CLIP-seq
MIRT1375306	hsa-miR-130b	CLIP-seq
MIRT1375307	hsa-miR-1343	CLIP-seq
MIRT1375308	hsa-miR-148a	CLIP-seq
MIRT1375309	hsa-miR-148b	CLIP-seq
MIRT1375310	hsa-miR-152	CLIP-seq
MIRT1375311	hsa-miR-194	CLIP-seq
MIRT1375312	hsa-miR-198	CLIP-seq
MIRT1375313	hsa-miR-199a-5p	CLIP-seq
MIRT1375314	hsa-miR-199b-5p	CLIP-seq
MIRT1375315	hsa-miR-204	CLIP-seq
MIRT1375316	hsa-miR-211	CLIP-seq
MIRT1375317	hsa-miR-2110	CLIP-seq
MIRT1375318	hsa-miR-224	CLIP-seq
MIRT1375319	hsa-miR-2355-5p	CLIP-seq
MIRT1375320	hsa-miR-296-5p	CLIP-seq
MIRT1375321	hsa-miR-301a	CLIP-seq
MIRT1375322	hsa-miR-301b	CLIP-seq
MIRT1375323	hsa-miR-302a	CLIP-seq
MIRT1375324	hsa-miR-302b	CLIP-seq
MIRT1375325	hsa-miR-302c	CLIP-seq
MIRT1375326	hsa-miR-302d	CLIP-seq
MIRT1375327	hsa-miR-302e	CLIP-seq
MIRT1375328	hsa-miR-3074-5p	CLIP-seq
MIRT1375329	hsa-miR-30a	CLIP-seq
MIRT1375330	hsa-miR-30b	CLIP-seq
MIRT1375331	hsa-miR-30c	CLIP-seq
MIRT1375332	hsa-miR-30d	CLIP-seq
MIRT1375333	hsa-miR-30e	CLIP-seq
MIRT1375334	hsa-miR-3125	CLIP-seq
MIRT1375335	hsa-miR-3140-5p	CLIP-seq
MIRT1375336	hsa-miR-3152-5p	CLIP-seq
MIRT1375337	hsa-miR-3185	CLIP-seq
MIRT1375338	hsa-miR-335	CLIP-seq
MIRT1375339	hsa-miR-3611	CLIP-seq
MIRT1375340	hsa-miR-3662	CLIP-seq
MIRT1375341	hsa-miR-3714	CLIP-seq
MIRT1375342	hsa-miR-372	CLIP-seq
MIRT1375343	hsa-miR-373	CLIP-seq
MIRT1375344	hsa-miR-3916	CLIP-seq
MIRT1375345	hsa-miR-3927	CLIP-seq
MIRT1375346	hsa-miR-3977	CLIP-seq
MIRT1375347	hsa-miR-4271	CLIP-seq
MIRT1375348	hsa-miR-4272	CLIP-seq
MIRT1375349	hsa-miR-4287	CLIP-seq
MIRT1375350	hsa-miR-4451	CLIP-seq
MIRT1375351	hsa-miR-4464	CLIP-seq
MIRT1375352	hsa-miR-4506	CLIP-seq
MIRT1375353	hsa-miR-451b	CLIP-seq
MIRT1375354	hsa-miR-4520a-3p	CLIP-seq
MIRT1375355	hsa-miR-454	CLIP-seq
MIRT1375356	hsa-miR-4540	CLIP-seq
MIRT1375357	hsa-miR-4645-5p	CLIP-seq
MIRT1375358	hsa-miR-4660	CLIP-seq
MIRT1375359	hsa-miR-4667-5p	CLIP-seq
MIRT1375360	hsa-miR-4673	CLIP-seq
MIRT1375361	hsa-miR-4685-3p	CLIP-seq
MIRT1375362	hsa-miR-4694-3p	CLIP-seq
MIRT1375363	hsa-miR-4700-5p	CLIP-seq
MIRT1375364	hsa-miR-4725-3p	CLIP-seq
MIRT1375365	hsa-miR-4731-5p	CLIP-seq
MIRT1375366	hsa-miR-4742-3p	CLIP-seq
MIRT1375367	hsa-miR-4748	CLIP-seq
MIRT1375368	hsa-miR-4749-3p	CLIP-seq
MIRT1375369	hsa-miR-4774-3p	CLIP-seq
MIRT1375370	hsa-miR-4803	CLIP-seq
MIRT1375371	hsa-miR-488	CLIP-seq
MIRT1375372	hsa-miR-493	CLIP-seq
MIRT1375373	hsa-miR-494	CLIP-seq
MIRT1375374	hsa-miR-495	CLIP-seq
MIRT1375375	hsa-miR-498	CLIP-seq
MIRT1375376	hsa-miR-5047	CLIP-seq
MIRT1375377	hsa-miR-513a-5p	CLIP-seq
MIRT1375378	hsa-miR-520a-3p	CLIP-seq
MIRT1375379	hsa-miR-520b	CLIP-seq
MIRT1375380	hsa-miR-520c-3p	CLIP-seq
MIRT1375381	hsa-miR-520d-3p	CLIP-seq
MIRT1375382	hsa-miR-520d-5p	CLIP-seq
MIRT1375383	hsa-miR-520e	CLIP-seq
MIRT1375384	hsa-miR-520f	CLIP-seq
MIRT1375385	hsa-miR-522	CLIP-seq
MIRT1375386	hsa-miR-524-5p	CLIP-seq
MIRT1375387	hsa-miR-548ag	CLIP-seq
MIRT1375388	hsa-miR-548ai	CLIP-seq
MIRT1375389	hsa-miR-548g	CLIP-seq
MIRT1375390	hsa-miR-548t	CLIP-seq
MIRT1375391	hsa-miR-554	CLIP-seq
MIRT1375392	hsa-miR-555	CLIP-seq
MIRT1375393	hsa-miR-579	CLIP-seq
MIRT1375394	hsa-miR-605	CLIP-seq
MIRT1375395	hsa-miR-626	CLIP-seq
MIRT1375396	hsa-miR-630	CLIP-seq
MIRT1375397	hsa-miR-654-3p	CLIP-seq
MIRT1375398	hsa-miR-671-5p	CLIP-seq
MIRT1375399	hsa-miR-758	CLIP-seq
MIRT1375400	hsa-miR-877	CLIP-seq
MIRT1375301	hsa-miR-1183	CLIP-seq
MIRT2111636	hsa-miR-141	CLIP-seq
MIRT2111637	hsa-miR-200a	CLIP-seq
MIRT1375340	hsa-miR-3662	CLIP-seq
MIRT1375348	hsa-miR-4272	CLIP-seq
MIRT1375366	hsa-miR-4742-3p	CLIP-seq
MIRT1375370	hsa-miR-4803	CLIP-seq
MIRT1375375	hsa-miR-498	CLIP-seq
MIRT1375396	hsa-miR-630	CLIP-seq
MIRT1375305	hsa-miR-130a	CLIP-seq
MIRT1375306	hsa-miR-130b	CLIP-seq
MIRT1375308	hsa-miR-148a	CLIP-seq
MIRT1375309	hsa-miR-148b	CLIP-seq
MIRT1375310	hsa-miR-152	CLIP-seq
MIRT1375313	hsa-miR-199a-5p	CLIP-seq
MIRT1375314	hsa-miR-199b-5p	CLIP-seq
MIRT1375315	hsa-miR-204	CLIP-seq
MIRT1375316	hsa-miR-211	CLIP-seq
MIRT1375319	hsa-miR-2355-5p	CLIP-seq
MIRT1375321	hsa-miR-301a	CLIP-seq
MIRT1375322	hsa-miR-301b	CLIP-seq
MIRT1375329	hsa-miR-30a	CLIP-seq
MIRT1375330	hsa-miR-30b	CLIP-seq
MIRT1375331	hsa-miR-30c	CLIP-seq
MIRT1375332	hsa-miR-30d	CLIP-seq
MIRT1375333	hsa-miR-30e	CLIP-seq
MIRT1375340	hsa-miR-3662	CLIP-seq
MIRT1375348	hsa-miR-4272	CLIP-seq
MIRT1375349	hsa-miR-4287	CLIP-seq
MIRT1375354	hsa-miR-4520a-3p	CLIP-seq
MIRT1375355	hsa-miR-454	CLIP-seq
MIRT1375361	hsa-miR-4685-3p	CLIP-seq
MIRT1375366	hsa-miR-4742-3p	CLIP-seq
MIRT1375374	hsa-miR-495	CLIP-seq
MIRT1375375	hsa-miR-498	CLIP-seq
MIRT1375389	hsa-miR-548g	CLIP-seq
MIRT1375390	hsa-miR-548t	CLIP-seq
MIRT1375396	hsa-miR-630	CLIP-seq
MIRT1375397	hsa-miR-654-3p	CLIP-seq
MIRT1375300	hsa-miR-101	CLIP-seq
MIRT1375302	hsa-miR-1207-3p	CLIP-seq
MIRT2691598	hsa-miR-1267	CLIP-seq
MIRT1375317	hsa-miR-2110	CLIP-seq
MIRT1375341	hsa-miR-3714	CLIP-seq
MIRT1375347	hsa-miR-4271	CLIP-seq
MIRT2691599	hsa-miR-4661-3p	CLIP-seq
MIRT1375359	hsa-miR-4667-5p	CLIP-seq
MIRT1375363	hsa-miR-4700-5p	CLIP-seq
MIRT1375364	hsa-miR-4725-3p	CLIP-seq
MIRT1375365	hsa-miR-4731-5p	CLIP-seq
MIRT1375373	hsa-miR-494	CLIP-seq
MIRT2691600	hsa-miR-653	CLIP-seq
MIRT1375397	hsa-miR-654-3p	CLIP-seq

Gene ontology (GO) Show/Hide all (72)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	IEA
GO:0000149	Function	SNARE binding	IBA
GO:0000149	Function	SNARE binding	IDA	10195194
GO:0000149	Function	SNARE binding	TAS	10195194
GO:0001669	Component	Acrosomal vesicle	IEA
GO:0002177	Component	Manchette	IEA
GO:0005515	Function	Protein binding	IPI	12809483, 15102850, 16330323, 17702749, 18167355, 19168546, 21102408, 22203680, 23414517, 23949442, 25898167, 28514442, 31413325, 32296183, 33961781
GO:0005737	Component	Cytoplasm	IEA
GO:0005764	Component	Lysosome	IEA
GO:0005765	Component	Lysosomal membrane	IEA
GO:0005794	Component	Golgi apparatus	IEA
GO:0005829	Component	Cytosol	IEA
GO:0006886	Process	Intracellular protein transport	IEA
GO:0006886	Process	Intracellular protein transport	TAS	10195194
GO:0006887	Process	Exocytosis	IEA
GO:0007040	Process	Lysosome organization	IBA
GO:0007040	Process	Lysosome organization	IEA
GO:0007042	Process	Lysosomal lumen acidification	IEA
GO:0007268	Process	Chemical synaptic transmission	IEA
GO:0007269	Process	Neurotransmitter secretion	TAS	10195194
GO:0008021	Component	Synaptic vesicle	IBA
GO:0008021	Component	Synaptic vesicle	IDA	21102408
GO:0008021	Component	Synaptic vesicle	TAS	10195194
GO:0008089	Process	Anterograde axonal transport	IEA
GO:0008089	Process	Anterograde axonal transport	ISS
GO:0008090	Process	Retrograde axonal transport	IEA
GO:0008333	Process	Endosome to lysosome transport	IBA
GO:0008333	Process	Endosome to lysosome transport	IGI	22797916
GO:0010977	Process	Negative regulation of neuron projection development	IEA
GO:0016020	Component	Membrane	IEA
GO:0016079	Process	Synaptic vesicle exocytosis	IBA
GO:0016079	Process	Synaptic vesicle exocytosis	IDA	10195194
GO:0016188	Process	Synaptic vesicle maturation	IEA
GO:0030141	Component	Secretory granule	IBA
GO:0030141	Component	Secretory granule	ISS
GO:0030672	Component	Synaptic vesicle membrane	IEA
GO:0031083	Component	BLOC-1 complex	IBA
GO:0031083	Component	BLOC-1 complex	IDA	15102850, 22203680
GO:0031083	Component	BLOC-1 complex	IEA
GO:0031083	Component	BLOC-1 complex	IPI	22203680
GO:0031175	Process	Neuron projection development	ISS
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0031503	Process	Protein-containing complex localization	IEA
GO:0031629	Process	Synaptic vesicle fusion to presynaptic active zone membrane	IEA
GO:0032418	Process	Lysosome localization	IBA
GO:0032418	Process	Lysosome localization	IMP	25898167
GO:0032418	Process	Lysosome localization	NAS	25898167
GO:0032438	Process	Melanosome organization	NAS	15102850, 22203680
GO:0045202	Component	Synapse	IDA	10195194
GO:0045202	Component	Synapse	IEA
GO:0048471	Component	Perinuclear region of cytoplasm	IDA	19168546
GO:0048471	Component	Perinuclear region of cytoplasm	IEA
GO:0048489	Process	Synaptic vesicle transport	IBA
GO:0048489	Process	Synaptic vesicle transport	IMP	18167355
GO:0048490	Process	Anterograde synaptic vesicle transport	IEA
GO:0048490	Process	Anterograde synaptic vesicle transport	ISS
GO:0051036	Process	Regulation of endosome size	NAS	31314175
GO:0051604	Process	Protein maturation	IEA
GO:0051650	Process	Establishment of vesicle localization	IEA
GO:0062196	Process	Regulation of lysosome size	NAS	31314175
GO:0070050	Process	Neuron cellular homeostasis	IEA
GO:0072384	Process	Organelle transport along microtubule	NAS	25898167
GO:0072553	Process	Terminal button organization	IEA
GO:0097352	Process	Autophagosome maturation	IEA
GO:0098574	Component	Cytoplasmic side of lysosomal membrane	NAS	25898167
GO:0099078	Component	BORC complex	IDA	25898167
GO:0099078	Component	BORC complex	IPI	25898167
GO:1902774	Process	Late endosome to lysosome transport	IEA
GO:1902824	Process	Positive regulation of late endosome to lysosome transport	TAS	23949442
GO:1904115	Component	Axon cytoplasm	IEA
GO:1990742	Component	Microvesicle	IEA
GO:2000300	Process	Regulation of synaptic vesicle exocytosis	IEA

Other IDs

• MIM: 607007
• HGNC: 17145
• e!Ensembl: ENSG00000143553

Protein

• UniProt ID: O95295
• Protein name: SNARE-associated protein Snapin (Biogenesis of lysosome-related organelles complex 1 subunit 7) (BLOC-1 subunit 7) (Synaptosomal-associated protein 25-binding protein) (SNAP-associated protein)
• Protein function: Component of the BLOC-1 complex, a complex that is required for normal biogenesis of lysosome-related organelles (LRO), such as platelet dense granules and melanosomes. In concert with the AP-3 complex, the BLOC-1 complex is required to target m
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF14712	Snapin_Pallidin	23 → 110	Snapin/Pallidin	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed in male germ cells of adult testis (at protein level). {ECO:0000269|PubMed:19168546}.
• Sequence:

  MAGAGSAAVSGAGTPVAGPTGRDLFAEGLLEFLRPAVQQLDSHVHAVRESQVELREQIDN
  LATELCRINEDQKVALDLDPYVKKLLNARRRVVLVNNILQNAQERLRRLNHSVAKETARR
  RAMLDSGIYPPGSPGK

• Sequence length: 136

Pathways

Reactome Pathway:

Golgi Associated Vesicle Biogenesis

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Abnormal brain morphology	Likely pathogenic	rs1060499751	RCV000454257	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
NEURODEVELOPMENTAL DISORDER WITH STRUCTURAL BRAIN ABNORMALITIES AND CRANIOFACIAL ABNORMALITIES	Likely pathogenic	rs1060499751	RCV005898160	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	27929705	Associate	★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	27929705		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	18068530		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	39231316	Associate	★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	22523426		★☆☆☆☆ Found in Text Mining only

Related Genes

No strongly related genes found yet for SNAPIN.

Diseases Linked via Similar Genes

No additional diseases found yet through genes similar to SNAPIN.