ASPH

ASPH

Identifiers Symbols ASPH; AAH; BAH; CASQ2BP1; HAAH; JCTN; junctin External IDs OMIM: 600582 MGI: 1914186 HomoloGene: 20910 GeneCards: ASPH Gene EC number 1.14.11.16

Gene Ontology
Molecular function peptide-aspartate beta-dioxygenase activity
structural molecule activity
calcium ion binding
protein binding
structural constituent of muscle
electron carrier activity
oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen
Cellular component endoplasmic reticulum
endoplasmic reticulum membrane
plasma membrane
junctional sarcoplasmic reticulum membrane
integral to endoplasmic reticulum membrane
cortical endoplasmic reticulum
Biological process muscle contraction
pattern specification process
biological_process
negative regulation of cell proliferation
positive regulation of calcium ion transport into cytosol
regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum
regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity
activation of store-operated calcium channel activity
response to ATP
limb morphogenesis
peptidyl-aspartic acid hydroxylation
positive regulation of transcription, DNA-dependent
palate development
negative regulation of ryanodine-sensitive calcium-release channel activity
positive regulation of ryanodine-sensitive calcium-release channel activity
face morphogenesis
calcium ion transmembrane transport
cellular response to calcium ion
positive regulation of intracellular protein transport
Sources: Amigo / QuickGO
RNA expression pattern More reference expression data Orthologs Species Human Mouse Entrez 444 65973 Ensembl ENSG00000198363 ENSMUSG00000028207 UniProt B4DQ07 A2AL74 RefSeq (mRNA) NM_001164750 NM_001177849 RefSeq (protein) NP_001158222 NP_001171320 Location (UCSC) Chr 8:
62.41 – 62.63 Mb Chr 4:
9.45 – 9.67 Mb PubMed search

Aspartyl/asparaginyl beta-hydroxylase (HAAH) is an enzyme that in humans is encoded by the ASPH gene.

Read more about ASPH:  Function, Clinical Significance