Browse ASPH

Summary
SymbolASPH
Nameaspartate beta-hydroxylase
Aliases CASQ2BP1; BAH; JCTN; HAAH; junctin; humbug; junctate; AAH; FDLAB; A beta H-J-J; ASP beta-hydroxylase; aspart ......
Chromosomal Location8q12.1
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content Basic function annotation.
> Subcellular Location, Domain and Function
> Gene Ontology
> KEGG and Reactome Pathway
> Subcellular Location, Domain and Function
 
Subcellular Location Isoform 1: Endoplasmic reticulum membrane; Single-pass type II membrane protein ; SUBCELLULAR LOCATION: Isoform 4: Sarcoplasmic reticulum membrane; Single-pass type II membrane protein ; SUBCELLULAR LOCATION: Isoform 8: Endoplasmic reticulum membrane; Single-pass type II membrane protein
Domain PF05279 Aspartyl beta-hydroxylase N-terminal region
PF05118 Aspartyl/Asparaginyl beta-hydroxylase
Function

Isoform 1: specifically hydroxylates an Asp or Asn residue in certain epidermal growth factor-like (EGF) domains of a number of proteins. ; FUNCTION: Isoform 8: membrane-bound Ca(2+)-sensing protein, which is a structural component of the ER-plasma membrane junctions. Isoform 8 regulates the activity of Ca(+2) released-activated Ca(+2) (CRAC) channels in T-cells.

> Gene Ontology
 
Biological Process GO:0003012 muscle system process
GO:0003013 circulatory system process
GO:0003015 heart process
GO:0006936 muscle contraction
GO:0008015 blood circulation
GO:0008016 regulation of heart contraction
GO:0010950 positive regulation of endopeptidase activity
GO:0010952 positive regulation of peptidase activity
GO:0016485 protein processing
GO:0031638 zymogen activation
GO:0035637 multicellular organismal signaling
GO:0044057 regulation of system process
GO:0045862 positive regulation of proteolysis
GO:0051604 protein maturation
GO:0052547 regulation of peptidase activity
GO:0052548 regulation of endopeptidase activity
GO:0060047 heart contraction
GO:0061337 cardiac conduction
GO:0097202 activation of cysteine-type endopeptidase activity
GO:1903522 regulation of blood circulation
GO:1903779 regulation of cardiac conduction
GO:2000116 regulation of cysteine-type endopeptidase activity
GO:2001056 positive regulation of cysteine-type endopeptidase activity
Molecular Function GO:0004597 peptide-aspartate beta-dioxygenase activity
GO:0008307 structural constituent of muscle
GO:0009055 electron carrier activity
GO:0016705 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen
GO:0016706 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors
GO:0051213 dioxygenase activity
Cellular Component GO:0005938 cell cortex
GO:0016528 sarcoplasm
GO:0016529 sarcoplasmic reticulum
GO:0031984 organelle subcompartment
GO:0032541 cortical endoplasmic reticulum
GO:0033017 sarcoplasmic reticulum membrane
GO:0044448 cell cortex part
GO:0071782 endoplasmic reticulum tubular network
GO:0098827 endoplasmic reticulum subcompartment
GO:0099568 cytoplasmic region
> KEGG and Reactome Pathway
 
KEGG -
Reactome R-HSA-5576891: Cardiac conduction
R-HSA-983712: Ion channel transport
R-HSA-5578775: Ion homeostasis
R-HSA-397014: Muscle contraction
R-HSA-2672351: Stimuli-sensing channels
R-HSA-382551: Transmembrane transport of small molecules
Summary
SymbolASPH
Nameaspartate beta-hydroxylase
Aliases CASQ2BP1; BAH; JCTN; HAAH; junctin; humbug; junctate; AAH; FDLAB; A beta H-J-J; ASP beta-hydroxylase; aspart ......
Chromosomal Location8q12.1
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content Literatures that report relations between ASPH and anti-tumor immunity. The specific mechanism were also collected if the literature reports that a gene specifically promotes or inhibits the infiltration or function of T/NK cells.
> Text Mining
 
  Literatures describing the relation between ASPH and anti-tumor immunity in human cancer.
PMID Cancer type Relation to immunity Evidence sentences
22245894Hepatocellular CarcinomaPromote immunity (T cell function); essential for immunotherapyWe found that immunotherapy with ASPH-loaded DCs suppressed and delayed established HCC and tumor growth when administered prophylactically.
21898484cholangiocarcinomaPromote immunityThese findings suggest that immunization with ASPH-loaded DCs may constitute a novel therapeutic approach for intrahepatic cholangiocarcinoma, because this protein also appears to be highly conserved and expressed on human hepatobiliary tumors. Immunization with ASPH-loaded DCs generated cytotoxicity against cholangiocarcinoma cells in vitro and significantly suppressed intrahepatic tumor growth and metastasis, and was associated with increased CD3+ lymphocyte infiltration into the tumors.
Summary
SymbolASPH
Nameaspartate beta-hydroxylase
Aliases CASQ2BP1; BAH; JCTN; HAAH; junctin; humbug; junctate; AAH; FDLAB; A beta H-J-J; ASP beta-hydroxylase; aspart ......
Chromosomal Location8q12.1
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content High-throughput screening data (e.g. CRISPR-Cas9, shRNA and RNAi) for T cell-mediated killing. Genetic screen techniques can identify mechanisms of tumor cell resistance (e.g., PTPN2) and sensitivity (e.g., APLNR) to killing by cytotoxic T cells, the central effectors of anti-tumor immunity. After comprehensively searching, eight groups of screening data sets were collected in the current database. In this tab, users can check whether their selected genes cause resistance or increase sensitivity to T cell-mediated killing in various data sets.
> High-throughput Screening
  Statistical results of ASPH in screening data sets for detecting immune reponses.
PMID Screening System Cancer Type Cell Line Data Set Statistical Results Relation to immunity
29301958CRISPR-Cas9 melanomaB16F10Pmel-1 T cell NA/NSNA/NS
29301958CRISPR-Cas9 melanomaB16F10OT-1 T cell NA/NSNA/NS
28783722CRISPR-Cas9 melanomaMel6242CT-CRISPR NA/NSNA/NS
28723893CRISPR-Cas9 melanomaB16GVAX+Anti-PD1 NA/NSNA/NS
28723893CRISPR-Cas9 melanomaB16GVAX NA/NSNA/NS
25691366RNAiBreast cancerMCF7Luc-CTL assay NA/NSNA/NS
24476824shRNAmelanomaB16Primary screen NA/NSNA/NS
24476824shRNAmelanomaB16Secondary screen NA/NSNA/NS
Summary
SymbolASPH
Nameaspartate beta-hydroxylase
Aliases CASQ2BP1; BAH; JCTN; HAAH; junctin; humbug; junctate; AAH; FDLAB; A beta H-J-J; ASP beta-hydroxylase; aspart ......
Chromosomal Location8q12.1
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content Transcriptomic and genomic profiling of pre-treated tumor biopsies from responders and non-responders to immunotherapy. These data were used to identify signatures and mechanisms of response to checkpoint blockade (e.g., anti-PDL1 and anti-PD1). One example is that mutations in the gene PBRM1 benefit clinical survival of patients with clear cell renal cell carcinoma. After comprehensively searching, we collected 5 and 6 of transcriptomic and genomic data sets, respectively. In this tab, users can check whether their selected genes have significant difference of expression or mutation between responders and non-responders in various data sets.
> Expression difference between responders and non-responders
> Mutation difference between responders and non-responders
> Expression difference between responders and non-responders
 
Points in the above scatter plot represent the expression difference of ASPH in various data sets.
No PMID Cancer type Group Drug # Res # NRes Log2 (Fold Change) P value Anno
126997480MelanomaallAnti-PD-1 (pembrolizumab and nivolumab)1412-0.4830.295
226997480MelanomaMAPKiAnti-PD-1 (pembrolizumab and nivolumab)65-0.7620.772
326997480Melanomanon-MAPKiAnti-PD-1 (pembrolizumab and nivolumab)87-0.2730.882
428552987Urothelial cancerallAnti-PD-L1 (atezolizumab) 916-0.0470.877
528552987Urothelial cancersmokingAnti-PD-L1 (atezolizumab) 590.0110.997
628552987Urothelial cancernon-smokingAnti-PD-L1 (atezolizumab) 47-0.1230.97
729033130MelanomaallAnti-PD-1 (nivolumab) 26230.1380.803
829033130MelanomaNIV3-PROGAnti-PD-1 (nivolumab) 1511-0.0770.972
929033130MelanomaNIV3-NAIVEAnti-PD-1 (nivolumab) 11120.3330.892
1029301960Clear cell renal cell carcinoma (ccRCC)allAnti-PD-1 (nivolumab) 480.260.895
1129301960Clear cell renal cell carcinoma (ccRCC)VEGFRiAnti-PD-1 (nivolumab) 2001
1229301960Clear cell renal cell carcinoma (ccRCC)non-VEGFRiAnti-PD-1 (nivolumab) 281.0920.713
1329443960Urothelial cancerallAnti-PD-L1 (atezolizumab) 68230-0.170.155
> Mutation difference between responders and non-responders
 
Points in the above scatter plot represent the mutation difference of ASPH in various data sets.
No PMID Cancer type Group Drug # Res # NRes % Mut/Res % Mut/NRes % Diff (R vs NR) Pval Anno
125765070Non-small cell lung cancer (NSCLC)allAnti-PD-1 (pembrolizumab) 14177.107.10.452
225765070Non-small cell lung cancer (NSCLC)smokingAnti-PD-1 (pembrolizumab) 103100101
325765070Non-small cell lung cancer (NSCLC)non-smokingAnti-PD-1 (pembrolizumab) 4140001
426359337MelanomaallAnti-CTLA-4 (ipilimumab) 277322.25.516.70.0222
526359337MelanomaBRAFiAnti-CTLA-4 (ipilimumab) 0140001
626359337Melanomanon-BRAFiAnti-CTLA-4 (ipilimumab) 275922.26.815.40.0651
726997480MelanomaallAnti-PD-1 (pembrolizumab and nivolumab)21174.85.9-1.11
826997480MelanomaMAPKiAnti-PD-1 (pembrolizumab and nivolumab)860001
926997480Melanomanon-MAPKiAnti-PD-1 (pembrolizumab and nivolumab)13117.79.1-1.41
1028552987Urothelial cancerallAnti-PD-L1 (atezolizumab) 91611.16.24.91
1128552987Urothelial cancersmokingAnti-PD-L1 (atezolizumab) 592011.18.91
1228552987Urothelial cancernon-smokingAnti-PD-L1 (atezolizumab) 470001
1329033130MelanomaallAnti-PD-1 (nivolumab) 38272.602.61
1429033130MelanomaNIV3-PROGAnti-PD-1 (nivolumab) 22134.504.51
1529033130MelanomaNIV3-NAIVEAnti-PD-1 (nivolumab) 16140001
1629301960Clear cell renal cell carcinoma (ccRCC)allAnti-PD-1 (nivolumab) 11130001
1729301960Clear cell renal cell carcinoma (ccRCC)VEGFRiAnti-PD-1 (nivolumab) 610001
1829301960Clear cell renal cell carcinoma (ccRCC)non-VEGFRiAnti-PD-1 (nivolumab) 5120001
Summary
SymbolASPH
Nameaspartate beta-hydroxylase
Aliases CASQ2BP1; BAH; JCTN; HAAH; junctin; humbug; junctate; AAH; FDLAB; A beta H-J-J; ASP beta-hydroxylase; aspart ......
Chromosomal Location8q12.1
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content Relations between abundance of tumor-infiltrating lymphocytes (TILs) and expression, copy number, methylation, or mutation of ASPH. The immune-related signatures of 28 TIL types from Charoentong's study, which can be viewed in the download page. For each cancer type, the relative abundance of TILs were inferred by using gene set variation analysis (GSVA) based on gene expression profile. In this tab, users can examine which kinds of TILs might be regulated by the current gene.
> Lymphocyte
 
Summary
SymbolASPH
Nameaspartate beta-hydroxylase
Aliases CASQ2BP1; BAH; JCTN; HAAH; junctin; humbug; junctate; AAH; FDLAB; A beta H-J-J; ASP beta-hydroxylase; aspart ......
Chromosomal Location8q12.1
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content Relations between three kinds of immunomodulators and expression, copy number, methylation, or mutation of ASPH. These immunomo-dulators were collected from Charoentong's study. In this tab, users can examine which immunomodulators might be regulated by ASPH.
> Immunoinhibitor
> Immunostimulator
> MHC molecule
> Immunoinhibitor
 
> Immunostimulator
 
> MHC molecule
 
Summary
SymbolASPH
Nameaspartate beta-hydroxylase
Aliases CASQ2BP1; BAH; JCTN; HAAH; junctin; humbug; junctate; AAH; FDLAB; A beta H-J-J; ASP beta-hydroxylase; aspart ......
Chromosomal Location8q12.1
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content Relations between chemokines (or receptors) and expression, copy number, methylation, or mutation of ASPH. In this tab, users can examine which chemokines (or receptors) might be regulated by the current gene.
> Chemokine
> Receptor
> Chemokine
 
> Receptor
 
Summary
SymbolASPH
Nameaspartate beta-hydroxylase
Aliases CASQ2BP1; BAH; JCTN; HAAH; junctin; humbug; junctate; AAH; FDLAB; A beta H-J-J; ASP beta-hydroxylase; aspart ......
Chromosomal Location8q12.1
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content Distribution of ASPH expression across immune and molecular subtypes.
> Immune subtype
> Molecular subtype
> Immune subtype
 
> Molecular subtype
 
Summary
SymbolASPH
Nameaspartate beta-hydroxylase
Aliases CASQ2BP1; BAH; JCTN; HAAH; junctin; humbug; junctate; AAH; FDLAB; A beta H-J-J; ASP beta-hydroxylase; aspart ......
Chromosomal Location8q12.1
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content Associations between ASPH and clinical features.
> Overall survival analysis
> Cancer stage
> Tumor grade
> Overall survival
 
> Stage
 
> Grade
 
Summary
SymbolASPH
Nameaspartate beta-hydroxylase
Aliases CASQ2BP1; BAH; JCTN; HAAH; junctin; humbug; junctate; AAH; FDLAB; A beta H-J-J; ASP beta-hydroxylase; aspart ......
Chromosomal Location8q12.1
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content Drugs targeting ASPH collected from DrugBank database.
> Drugs from DrugBank database
 

  Details on drugs targeting ASPH.
ID Name Drug Type Targets #Targets
DB00128L-Aspartic AcidSmall MoleculeACY1, ACY3, ADSS, ADSSL1, ASNS, ASPA, ASPH, ASRGL1, ASS1, CAD, DAR ......20
DB00139Succinic acidSmall MoleculeALDH5A1, ASPH, BBOX1, HSD17B6, OXCT1, OXCT2, P3H1, P3H2, P3H3, P4H ......26