SNAP91 (synaptosome associated protein 91)

Gene

• Entrez ID: 9892
• Gene name: Synaptosome associated protein 91
• Gene symbol: SNAP91
• Synonyms (NCBI Gene): AP180, CALM
• Chromosome: 6
• Chromosome location: 6q14.2

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT018431	hsa-miR-335-5p	Microarray	18185580
MIRT029749	hsa-miR-26b-5p	Microarray	19088304
MIRT1375124	hsa-miR-3671	CLIP-seq
MIRT1375125	hsa-miR-649	CLIP-seq
MIRT2334723	hsa-miR-4709-5p	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
TFAP2A	Unknown	14532018

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000149	Function	SNARE binding	IBA
GO:0005515	Function	Protein binding	IPI	17762867, 32296183, 32814053
GO:0005543	Function	Phospholipid binding	IEA
GO:0005545	Function	1-phosphatidylinositol binding	IBA
GO:0005545	Function	1-phosphatidylinositol binding	IEA
GO:0005546	Function	Phosphatidylinositol-4,5-bisphosphate binding	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0005905	Component	Clathrin-coated pit	IBA
GO:0005905	Component	Clathrin-coated pit	IEA
GO:0006900	Process	Vesicle budding from membrane	IBA
GO:0008021	Component	Synaptic vesicle	IBA
GO:0015031	Process	Protein transport	IEA
GO:0016020	Component	Membrane	IEA
GO:0019901	Function	Protein kinase binding	ISS
GO:0030136	Component	Clathrin-coated vesicle	IBA
GO:0030136	Component	Clathrin-coated vesicle	IEA
GO:0030276	Function	Clathrin binding	IEA
GO:0032050	Function	Clathrin heavy chain binding	IBA
GO:0048259	Process	Regulation of receptor-mediated endocytosis	IEA
GO:0048268	Process	Clathrin coat assembly	IEA
GO:0072583	Process	Clathrin-dependent endocytosis	IBA
GO:0072583	Process	Clathrin-dependent endocytosis	IEA
GO:0098894	Component	Extrinsic component of presynaptic endocytic zone membrane	IBA
GO:2000369	Process	Regulation of clathrin-dependent endocytosis	IMP	16254249

Other IDs

• MIM: 607923
• HGNC: 14986
• e!Ensembl: ENSG00000065609

Protein

• UniProt ID: O60641
• Protein name: Clathrin coat assembly protein AP180 (91 kDa synaptosomal-associated protein) (Clathrin coat-associated protein AP180) (Phosphoprotein F1-20)
• Protein function: Adaptins are components of the adapter complexes which link clathrin to receptors in coated vesicles. Clathrin-associated protein complexes are believed to interact with the cytoplasmic tails of membrane proteins, leading to their selection and
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF07651	ANTH	21 → 284	ANTH domain	Domain

• Sequence:

  MSGQTLTDRIAAAQYSVTGSAVARAVCKATTHEVMGPKKKHLDYLIQATNETNVNIPQMA
  DTLFERATNSSWVVVFKALVTTHHLMVHGNERFIQYLASRNTLFNLSNFLDKSGSHGYDM
  STFIRRYSRYLNEKAFSYRQMAFDFARVKKGADGVMRTMAPEKLLKSMPILQGQIDALLE
  FDVHPNELTNGVINAAFMLLFKDLIKLFACYNDGVINLLEKFFEMKKGQCKDALEIYKRF
  LTRMTRVSEFLKVAEQVGIDKGDIPDLTQAPSSLMETLEQHLNTLEGKKPGNNEGSGAPS
  PLSKSSPATTVTSPNSTPAKTIDTSPPVDLFATASAAVPVSTSKPSSDLLDLQPDFSSGG
  AAAAAAPAPPPPAGGATAWGDLLGEDSLAALSSVPSEAQISDPFAPEPTPPTTTAEIATA
  SASASTTTTVTAVTAEVDLFGDAFAASPGEAPAASEGAAAPATPTPVAAALDACSGNDPF
  APSEGSAEAAPELDLFAMKPPETSVPVVTPTASTAPPVPATAPSPAPAVAAAAAATTAAT
  AAATTTTTTSAATATTAPPALDIFGDLFESTPEVAAAPKPDAAPSIDLFSTDAFSSPPQG
  ASPVPESSLTADLLSVDAFAAPSPATTASPAKVDSSGVIDLFGDAFGSSASEPQPASQAA
  SSSSASADLLAGFGGSFMAPSPSPVTPAQNNLLQPNFEAAFGTTPSTSSSSSFDPSVFDG
  LGDLLMPTMAPAGQPAPVSMVPPSPAMAASKALGSDLDSSLASLVGNLGISGTTTKKGDL
  QWNAGEKKLTGGANWQPKVAPATWSAGVPPSAPLQGAVPPTSSVPPVAGAPSVGQPGAGF
  GMPPAGTGMPMMPQQPVMFAQPMMRPPFGAAAVPGTQLSPSPTPASQSPKKPPAKDPLAD
  LNIKDFL

• Sequence length: 907

Pathways

Reactome:

Cargo recognition for clathrin-mediated endocytosis
Clathrin-mediated endocytosis

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
ANOREXIA NERVOSA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CAROTID ARTERY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEARING LOSS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBSESSIVE-COMPULSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TOURETTE SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute leukemia	Leukemia	BEFREE	16956826, 17804713, 18094714, 20007546		★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	10637482, 10637483, 16491119, 23831922		★☆☆☆☆ Found in Text Mining only
Acute Megakaryocytic Leukemias	Megakaryocytic Leukemia	BEFREE	11417476		★☆☆☆☆ Found in Text Mining only
Adult Acute Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	10637482, 16491119		★☆☆☆☆ Found in Text Mining only
Adult Acute Myeloblastic Leukemia	Myeloblastic Leukemia	BEFREE	10637482		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	10579202	Associate	★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	BEFREE	20847448		★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	BEFREE	29800622, 29852309		★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	29300100, 29800622, 29852309		★☆☆☆☆ Found in Text Mining only
Child Development Disorders, Pervasive	Development Disorder	GWASCAT_DG	28540026		★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	10637482, 16491119		★☆☆☆☆ Found in Text Mining only
Childhood Acute Myeloid Leukemia	Acute Myeloid Leukemia	BEFREE	10637482		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	33858496	Associate	★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	11911106		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	38098057	Associate	★☆☆☆☆ Found in Text Mining only
Emphysema	Emphysema	Pubtator	12555219	Associate	★☆☆☆☆ Found in Text Mining only
Essential Tremor	Tremor	BEFREE	31244760		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	27655637		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	27655637	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	27655637		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	27655637		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	27655637	Inhibit	★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic Neoplasms	BEFREE	29774507, 9737689		★☆☆☆☆ Found in Text Mining only
Hematopoietic Neoplasms	Hematopoietic Neoplasms	BEFREE	23487024		★☆☆☆☆ Found in Text Mining only
Learning Disabilities	Learning Disorders	BEFREE	28150585		★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	10637483, 11106826, 15774621, 18037964, 18094714, 19443658, 20007546, 21681188, 23284727, 23487024, 30670779, 31022428, 31141090, 9737689		★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid	Myeloid leukemia	Pubtator	12555219	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	10637482, 10637483, 16491119, 20875875, 21681188, 22885519		★☆☆☆☆ Found in Text Mining only
Long QT Syndrome	Long QT Syndrome	BEFREE	28158429, 31170290		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	16491119		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	10554802, 25027513		★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia	Myeloid Leukemia	BEFREE	12676784		★☆☆☆☆ Found in Text Mining only
Neurofibromatosis 1	Neurofibromatosis	BEFREE	28150585		★☆☆☆☆ Found in Text Mining only
NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME	Neurofibromatosis	BEFREE	28150585		★☆☆☆☆ Found in Text Mining only
Paroxysmal familial ventricular fibrillation	Paroxysmal ventricular fibrillation	BEFREE	31170290		★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	BEFREE	10637483, 23831922		★☆☆☆☆ Found in Text Mining only
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	BEFREE	10637482, 10637483, 15637138, 23831922, 9737689		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	33356818	Associate	★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	20738160, 31548722		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	GWASCAT_DG	26198764, 28540026, 28991256, 29483656, 30285260, 31268507, 31374203		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	Pubtator	27668389	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sjogren's Syndrome	Sjogren syndrome	Pubtator	28122643	Associate	★☆☆☆☆ Found in Text Mining only
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)	Catecholaminergic polymorphic ventricular tachycardia	BEFREE	31170290		★☆☆☆☆ Found in Text Mining only