Gene Report

Basic Information

Approved Symbol	ASPH
Approved Name	aspartate beta-hydroxylase
Symbol Alias	CASQ2BP1, BAH, JCTN, HAAH
Name Alias	junctin, "humbug", "junctate"
Location	8q12.1
Position	chr8:62413115-62627199 (-)
External Links	Entrez Gene: 444 Ensembl: ENSG00000198363 UCSC: uc003xuj.3 HGNC ID: 757
No. of Studies (Positive/Negative)	1(1/0)
Type	Literature-origin

Positive relationships between ASPH and MDD (count: 1)

Name in Literature	Reference	Research Type	Statistical Result	Relation Description
ASPH	Sibille E, 2009	animal model; patients and nomal controls	R=0.88, P-value<5E-6; y slope=1.12	Upregulated in MDD patients Upregulated in MDD patients

Positive relationships between ASPH and other components at different levels (count: 0)

Positive relationship network of ASPH in MK4MDD

Network loading ...

Note:
1. The different color of the nodes denotes the level of the nodes.

Genetic/Epigenetic Locus	Protein and Other Molecule	Cell and Molecular Pathway	Neural System	Cognition and Behavior	Symptoms and Signs	Environment	MDD

2. Besides the component related relationships from literature, gene mapped protein and protein mapped gene are also shown in the network. If the mapped gene or protein is not from literature, square node would be used instead of Circle node. Accordingly, the relationship is marked with dot line.
2. User can drag the nodes to rearrange the layout of the network. Click the node will enter the report page of the node. Right-click will show also the menus to link to the report page of the node and remove the node and related edges. Hover the node will show the level of the node and hover the edge will show the evidence/description of the edge.
3. The network is generated using Cytoscape Web

Negative relationships between ASPH and MDD (count: 0)

Negative relationships between ASPH and other components at different levels (count: 0)

ASPH related SNPs in MK4MDD (count: 0)

ASPH related proteins in MK4MDD (count: 1)

Approved Name	UniportKB	No. of Studies (Positive/Negative)	Source
Aspartyl/asparaginyl beta-hydroxylase	Q12797	0(0/0)	Gene mapped

ASPH related GO terms (count: 32)

ID	Name	Type	Evidence
Gene mapped GO terms
GO:0004597	peptide-aspartate beta-dioxygenase activity	molecular function	IEA
GO:0005515	protein binding	molecular function	IPI
GO:0008150	biological_process	biological process	ND
GO:0010524	positive regulation of calcium ion transport into cytosol	biological process	IDA
GO:0009055	electron carrier activity	molecular function	TAS[7821814]
GO:0014701	junctional sarcoplasmic reticulum membrane	cellular component	TAS[17569730]
GO:0060021	palate development	biological process	IEA
GO:0005198	structural molecule activity	molecular function	TAS[11007777]
GO:0090316	positive regulation of intracellular protein transport	biological process	IDA
GO:0005783	endoplasmic reticulum	cellular component	TAS[10974562]
GO:0005789	endoplasmic reticulum membrane	cellular component	NAS[11007777]
GO:0005509	calcium ion binding	molecular function	IDA; NAS[11007777]
GO:0008285	negative regulation of cell proliferation	biological process	IEA
GO:0005886	plasma membrane	cellular component	IDA
GO:0045893	positive regulation of transcription, DNA-dependent	biological process	IMP
GO:0032237	activation of store-operated calcium channel activity	biological process	IDA
GO:0016702	oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	molecular function	IEA
GO:0006936	muscle contraction	biological process	TAS[10974562]
GO:0071277	cellular response to calcium ion	biological process	IDA
GO:0060315	negative regulation of ryanodine-sensitive calcium-release channel activity	biological process	TAS[17569730]
GO:0035108	limb morphogenesis	biological process	IEA
GO:0032541	cortical endoplasmic reticulum	cellular component	IDA
GO:0042264	peptidyl-aspartic acid hydroxylation	biological process	IEA
GO:0008307	structural constituent of muscle	molecular function	TAS[11007777]
GO:0060316	positive regulation of ryanodine-sensitive calcium-release channel activity	biological process	TAS[15041652]
GO:0030176	integral to endoplasmic reticulum membrane	cellular component	IDA; IEA
GO:0033198	response to ATP	biological process	IDA
GO:0060325	face morphogenesis	biological process	IEA
GO:0007389	pattern specification process	biological process	IEA
GO:0070588	calcium ion transmembrane transport	biological process	IDA
GO:0031585	regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	biological process	IDA
GO:0010880	regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum	biological process	TAS[15041652]

ASPH related KEGG pathways (count: 0)

ASPH related BioCarta pathways (count: 1)

ID	Name	Brief Description	Full Description
Gene mapped BioCarta pathways
HIF_PATHWAY	hif pathway	Hypoxia-Inducible Factor in the Cardiovascular System	Hypoxia (or low O2 levels) affects various pathologies. Firs...... Hypoxia (or low O2 levels) affects various pathologies. First, tissue ischemia, a variation in O2 tension caused by hypoxia/reoxygenation, can lead to endothelial cell changes. For example, long periods of ischemia result in endothelial changes, such as vascular leakage, resulting in varicose veins. In more severe situations, ischemia can lead to myocardial or cerebral infarction and retinal vessel occlusion. Of interest, HIF-1 is stabilized prior to induction of vascular endothelial growth factor (VEGF) expression during acute ischemia in the human heart. Second, pulmonary hypertension associated with chronic respiratory disorders results from persistent vasoconstriction and vascular remodeling. Third, hypoxic gradients created in enlarging solid tumors trigger expression of genes containing hypoxia response element (HRE)s such as those involved in angiogenesis. This allows subsequent delivery of O2, nutrients, and further tumor growth. Vascular remodeling is an important component to tumorigenesis; without proper blood supply, delivery of oxygen may occur by diffusion, but becomes inefficient in tumors greater than 1 mm in diameter. Short-term hypoxia can also elevate platelet numbers, while prolonged exposure may cause some degree of thrombocytopenia in response to increased levels of erythropoetin (EPO). Another disorder involving inadequate responses to hypoxia is preeclampsia, a pathology of pregnancy thought to be caused by improper differentiation of placental trophoblast cells due to poorly controlled O2 tension or improper hypoxia-inducible factor (HIF)-mediated responses. The primary molecular mechanism of gene activation during hypoxia is through HIF-1. Several genes involved in cellular differentiation are directly or indirectly regulated by hypoxia. These include EPO, LDH-A, ET-1, transferrin, transferrin receptor, VEGF, Flk-1, Flt-1, platelet-derived growth factor- (PDGF-), basic fibroblast growth factor (bFGF), and others genes affecting glycolysis. HIF-1 is a member of the basic helix-loop-helix (bHLH)-PAS family of transcription factors known to induce gene expression by binding to a ~50-bp HRE containing a core 5'-ACGTG-3' sequence. bHLH-PAS proteins heterodimerize to form transcription complexes that regulate O2 homeostasis, circadian rhythms, neurogenesis, and toxin metabolism. Three bHLH-PAS proteins in vertebrates respond to hypoxia: HIF-1 , EPAS (HIF-2 ), and HIF-3. These dimerize with ARNT (aryl hydrocarbon receptor nuclear translocator protein), ARNT-2, or ARNT-3. HIF-1 is ubiquitinated and subsequently degraded in less than 5 minutes under normoxic conditions. Although several candidate O2-sensing molecules have emerged in the literature, the molecular basis of how cells sense O2 levels is poorly characterized. pVHL, the protein product of a tumor-suppressor gene responsible for von Hippel Lindau disease, is implicated in this O2-sensing system by its association with HIF-1 , targeting it for ubiquitin-mediated degradation. Similarly, F-box-containing proteins recognize substrates of the ubiquitin ligases, targeting them for phosphorylation-dependent ubiquitination and proteosomal degradation. In addition to F-boxes, most of these proteins also contain a WD40 or a leucine-rich repeat (LLR) domain that presumably functions as a Ser/Thr binding module. A second family of proteins assisting the ubiquitin ligases share a region designated SOCS-box (originally from the suppressor of cytokine signaling proteins SOCS). Under low O2 (<5% O2) HIF-1 is stabilized leading to the formation of a functional transcription factor complex with ARNT. This complex is the master regulator of O2 homeostasis and induces a network of genes involved in angiogenesis, erythropoiesis, and glucose metabolism. More...

ASPH related Reactome pathways (count: 0)

ASPH related interactors from protein-protein interaction data in HPRD (count: 1)

Gene	Interactor	Interactor in MK4MDD?	Experiment Type	PMID
ASPH	TRDN	No	in vitro;in vivo	11069905 , 9287354

Gene Report

Gene mapped GO terms

Gene mapped BioCarta pathways