ADHDgene Database

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Large-scale studies

Data Summary

Published Variant
- SNP: 1391
- CNV: 398
- Others: 173
Published Gene: 359
Published Region: 128
Pathway by PBA: 8
Study: 361

Detail ...

Gene Report

Basic Info

Approved Symbol	SORT1
Symbol Alias	Gp95, NT3
Approved Name	sortilin 1
Location	1p13.3
Position	chr1:109852192-109940573, -
External Links	HGNC: 11186 Entrez Gene: 6272 Ensembl: ENSG00000134243 UCSC: uc001dxm.1
No. of Studies	0 (significant: 0; non-significant: 0; trend: 0)
Source	Mapped by CNV

Gene related studies (count: 0)

Gene related SNPs (count: 0)

Gene related CNVs (count: 1)

ID	Location	Size	Band	Type	Inheritance
CNV_Jarick[2012]_1	chr1:109103606-109682244 (NCBI36 / hg18)	578639	1p13.3	dup

Gene related other variant (count: 0)

Gene related regions (count: 0)

Gene related GO terms (count: 40)

GO terms by PBA (with statistical significance of FDR<0.05) (count: 0)

GO terms by database search (count: 40)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0016023	cytoplasmic membrane-bounded vesicle	Cellular Component	IDA[9756851]	16
GO:0016021	integral to membrane	Cellular Component	IDA[15992544]	845
GO:0014902	myotube differentiation	Biological Process	IMP[18258592]	2
GO:0010468	regulation of gene expression	Biological Process	IMP[18258592]	7
GO:0010465	nerve growth factor receptor activity	Molecular Function	IDA[14985763]	1
GO:0010008	endosome membrane	Cellular Component		27
GO:0009986	cell surface	Cellular Component	IDA[10085125]	70
GO:0008333	endosome to lysosome transport	Biological Process	IDA[11331584]	5
GO:0007218	neuropeptide signaling pathway	Biological Process	IDA[9756851]	17
GO:0007186	G-protein coupled receptor signaling pathway	Biological Process	IMP[18258592]	72
GO:0006897	endocytosis	Biological Process	IDA[11331584]	23
GO:0006895	Golgi to endosome transport	Biological Process	IDA[11331584]	4
GO:0005905	coated pit	Cellular Component	IDA[11331584]	8
GO:0005886	plasma membrane	Cellular Component	IDA[11331584]; NAS[14985763]	772
GO:0005794	Golgi apparatus	Cellular Component	IDA[11331584]	157
GO:0005789	endoplasmic reticulum membrane	Cellular Component		140
GO:0048227	plasma membrane to endosome transport	Biological Process	IDA[11331584]	1
GO:0048406	nerve growth factor binding	Molecular Function	IPI[14985763]	3
GO:0046323	glucose import	Biological Process	IMP[15992544]	2
GO:0048011	nerve growth factor receptor signaling pathway	Biological Process	IMP[14985763]	42
GO:0043025	neuronal cell body	Cellular Component		51
GO:0043066	negative regulation of apoptotic process	Biological Process	IDA[14985763]	77
GO:0032580	Golgi cisterna membrane	Cellular Component		18
GO:0032868	response to insulin stimulus	Biological Process	IMP[15992544]	11
GO:0031965	nuclear membrane	Cellular Component		27
GO:0032509	endosome transport via multivesicular body sorting pathway	Biological Process	IDA[11331584]	1
GO:0030379	neurotensin receptor activity, non-G-protein coupled	Molecular Function	IDA[9756851]	1
GO:0030425	dendrite	Cellular Component		46
GO:0030136	clathrin-coated vesicle	Cellular Component	IDA[11331584]	9
GO:0030140	trans-Golgi network transport vesicle	Cellular Component		7
GO:0016050	vesicle organization	Biological Process	IDA[15992544]	2
GO:0019899	enzyme binding	Molecular Function	IPI[10085125]	47
GO:0051005	negative regulation of lipoprotein lipase activity	Biological Process	IDA[10085125]	2
GO:0048471	perinuclear region of cytoplasm	Cellular Component	IDA[11331584]	87
GO:0097190	apoptotic signaling pathway	Biological Process	IMP[14985763]	6
GO:0001503	ossification	Biological Process		9
GO:0005737	cytoplasm	Cellular Component		690
GO:0005765	lysosomal membrane	Cellular Component		17
GO:0005768	endosome	Cellular Component		27
GO:0005769	early endosome	Cellular Component	IDA[11331584]	25

Gene related KEGG pathways (count: 2)

ID	Name	No. of Genes in ADHDgene	Brief Description
hsa04722	Neurotrophin signaling pathway	24	Neurotrophins are a family of trophic factors involved in di...... Neurotrophins are a family of trophic factors involved in differentiation and survival of neural cells. The neurotrophin family consists of nerve growth factor (NGF), brain derived neurotrophic factor (BDNF), neurotrophin 3 (NT-3), and neurotrophin 4 (NT-4). Neurotrophins exert their functions through engagement of Trk tyrosine kinase receptors or p75 neurotrophin receptor (p75NTR). Neurotrophin/Trk signaling is regulated by connecting a variety of intracellular signaling cascades, which include MAPK pathway, PI-3 kinase pathway, and PLC pathway, transmitting positive signals like enhanced survival and growth. On the other hand, p75NTR transmits both positive and nagative signals. These signals play an important role for neural development and additional higher-order activities such as learning and memory. More...
hsa04142	Lysosome	19	Lysosomes are membrane-delimited organelles in animal cells ...... Lysosomes are membrane-delimited organelles in animal cells serving as the cell's main digestive compartment to which all sorts of macromolecules are delivered for degradation. They contain more than 40 hydrolases in an acidic environment (pH of about 5). After synthesis in the ER, lysosomal enzymes are decorated with mannose-6-phosphate residues, which are recognized by mannose-6-phosphate receptors in the trans-Golgi network. They are packaged into clathrin-coated vesicles and are transported to late endosomes. Substances for digestion are acquired by the lysosomes via a series of processes including endocytosis, phagocytosis, and autophagy. More...

Genes shared at least 5 GO terms with SORT1 (count: 29)

Gene Symbol	Pathway Count	Pathway List
CNTNAP2	7	integral to membrane; cell surface; Golgi apparatus; neuronal cell body; dendrite; enzyme binding; early endosome;
FURIN	6	integral to membrane; cell surface; plasma membrane; nerve growth factor binding; nerve growth factor receptor signaling pathway; trans-Golgi network transport vesicle;
PARM1	6	integral to membrane; endosome membrane; plasma membrane; Golgi apparatus; cytoplasm; early endosome;
STX6	6	integral to membrane; plasma membrane; Golgi apparatus; clathrin-coated vesicle; perinuclear region of cytoplasm; early endosome;
GSK3B	6	plasma membrane; nerve growth factor receptor signaling pathway; neuronal cell body; negative regulation of apoptotic process; perinuclear region of cytoplasm; cytoplasm;
ADCY4	5	integral to membrane; plasma membrane; nerve growth factor receptor signaling pathway; dendrite; cytoplasm;
BACE1	5	integral to membrane; cell surface; Golgi apparatus; enzyme binding; endosome;
CELSR2	5	integral to membrane; neuropeptide signaling pathway; G-protein coupled receptor signaling pathway; plasma membrane; cytoplasm;
GHR	5	integral to membrane; cell surface; endocytosis; plasma membrane; neuronal cell body;
NPC1	5	integral to membrane; endocytosis; Golgi apparatus; perinuclear region of cytoplasm; lysosomal membrane;
OCA2	5	integral to membrane; endosome membrane; endoplasmic reticulum membrane; cytoplasm; lysosomal membrane;
STS	5	integral to membrane; plasma membrane; Golgi apparatus; endoplasmic reticulum membrane; endosome;
TMED10	5	integral to membrane; plasma membrane; Golgi apparatus; endoplasmic reticulum membrane; trans-Golgi network transport vesicle;
ARF6	5	endosome membrane; plasma membrane; Golgi apparatus; endosome; early endosome;
CUBN	5	endosome membrane; coated pit; plasma membrane; Golgi apparatus; lysosomal membrane;
STEAP2	5	endosome membrane; endocytosis; plasma membrane; trans-Golgi network transport vesicle; early endosome;
ACHE	5	cell surface; plasma membrane; Golgi apparatus; dendrite; perinuclear region of cytoplasm;
CCR5	5	cell surface; G-protein coupled receptor signaling pathway; plasma membrane; cytoplasm; endosome;
CRYAB	5	cell surface; plasma membrane; Golgi apparatus; negative regulation of apoptotic process; cytoplasm;
KLHL20	5	cell surface; Golgi apparatus; negative regulation of apoptotic process; perinuclear region of cytoplasm; cytoplasm;
PIK3CG	5	G-protein coupled receptor signaling pathway; endocytosis; plasma membrane; negative regulation of apoptotic process; cytoplasm;
DENND1A	5	endocytosis; plasma membrane; neuronal cell body; dendrite; clathrin-coated vesicle;
INPPL1	5	endocytosis; plasma membrane; Golgi apparatus; response to insulin stimulus; cytoplasm;
RAB14	5	Golgi to endosome transport; plasma membrane; trans-Golgi network transport vesicle; perinuclear region of cytoplasm; early endosome;
GOLPH3	5	plasma membrane; Golgi cisterna membrane; nuclear membrane; cytoplasm; endosome;
PAK1	5	plasma membrane; Golgi apparatus; nuclear membrane; dendrite; cytoplasm;
PDE2A	5	plasma membrane; Golgi apparatus; dendrite; perinuclear region of cytoplasm; cytoplasm;
SNCA	5	plasma membrane; Golgi apparatus; negative regulation of apoptotic process; perinuclear region of cytoplasm; cytoplasm;
STRN3	5	plasma membrane; Golgi apparatus; neuronal cell body; dendrite; cytoplasm;

Genes shared at least 2 KEGG pathways with SORT1 (count: 0)

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Region: chr1:109852192..109940573 View in gBrowse