NIPSNAP3B (nipsnap homolog 3B)

Gene

• Entrez ID: 55335
• Gene name: Nipsnap homolog 3B
• Gene symbol: NIPSNAP3B
• Synonyms (NCBI Gene): FP944, NIPSNAP3, SNAP1
• Chromosome: 9
• Chromosome location: 9q31.1
• Summary: NIPSNAP3B belongs to a family of proteins with putative roles in vesicular trafficking (Buechler et al., 2004 [PubMed 15177564]).[supplied by OMIM, Mar 2008]

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1185888	hsa-miR-1257	CLIP-seq
MIRT1185889	hsa-miR-29a	CLIP-seq
MIRT1185890	hsa-miR-29b	CLIP-seq
MIRT1185891	hsa-miR-29c	CLIP-seq
MIRT1185892	hsa-miR-3120-3p	CLIP-seq
MIRT1185893	hsa-miR-3129-3p	CLIP-seq
MIRT1185894	hsa-miR-3163	CLIP-seq
MIRT1185895	hsa-miR-3166	CLIP-seq
MIRT1185896	hsa-miR-3662	CLIP-seq
MIRT1185897	hsa-miR-3689a-3p	CLIP-seq
MIRT1185898	hsa-miR-3689c	CLIP-seq
MIRT1185899	hsa-miR-4503	CLIP-seq
MIRT1185900	hsa-miR-4524	CLIP-seq
MIRT1185901	hsa-miR-4696	CLIP-seq
MIRT1185902	hsa-miR-545	CLIP-seq
MIRT1185903	hsa-miR-589	CLIP-seq
MIRT1185904	hsa-miR-635	CLIP-seq
MIRT1185905	hsa-miR-767-5p	CLIP-seq
MIRT2053908	hsa-miR-3646	CLIP-seq
MIRT2053909	hsa-miR-4291	CLIP-seq
MIRT2053910	hsa-miR-4310	CLIP-seq
MIRT2581290	hsa-miR-200b	CLIP-seq
MIRT2581291	hsa-miR-200c	CLIP-seq
MIRT2581292	hsa-miR-3613-3p	CLIP-seq
MIRT2581293	hsa-miR-410	CLIP-seq
MIRT2581294	hsa-miR-429	CLIP-seq
MIRT2581295	hsa-miR-4760-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000423	Process	Mitophagy	IEA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA

Other IDs

• MIM: 608872
• HGNC: 23641
• e!Ensembl: ENSG00000165028

Protein

• UniProt ID: Q9BS92
• Protein name: Protein NipSnap homolog 3B (NipSnap3B) (SNAP1)
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF07978	NIPSNAP	37 → 136	NIPSNAP	Domain
  PF07978	NIPSNAP	146 → 245	NIPSNAP	Domain

• Sequence:

  MLVLRSGLTKALASRTLAPQVCSSFATGPRQYDGTFYEFRTYYLKPSNMNAFMENLKKNI
  HLRTSYSELVGFWSVEFGGRTNKVFHIWKYDNFAHRAEVRKALANCKEWQEQSIIPNLAR
  IDKQETEITYLIPWSKLEKPPKEGVYELAVFQMKPGGPALWGDAFERAINAHVNLGYTKV
  VGVFHTEYGELNRVHVLWWNESADSRAAGRHKSHEDPRVVAAVRESVNYLVSQQNMLLIP
  ASFSPLK

• Sequence length: 247

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)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
HYPOALPHALIPOPROTEINEMIA, PRIMARY, 1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Atherosclerosis	Atherosclerosis	Pubtator	40441253	Associate	★☆☆☆☆ Found in Text Mining only
Familial HDL deficiency	Glucocorticoid Deficiency	BEFREE	15177564		★☆☆☆☆ Found in Text Mining only
Hypoalphalipoproteinemia, Familial	Hypoalphalipoproteinemia	BEFREE	15177564		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	25271630		★☆☆☆☆ Found in Text Mining only
Optic Atrophy Hereditary Leber	Leber hereditary optic neuropathy	Pubtator	36233195	Associate	★☆☆☆☆ Found in Text Mining only
SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME	Spondylocarpotarsal Synostosis Syndrome	BEFREE	29293537		★☆☆☆☆ Found in Text Mining only