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.

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