ASPH

ASPH
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	5APA
Identifiers
Aliases	ASPH, AAH, BAH, CASQ2BP1, FDLAB, HAAH, JCTN, junctin, aspartate beta-hydroxylase
External IDs	OMIM: 600582; MGI: 1914186; HomoloGene: 20910; GeneCards: ASPH; OMA:ASPH - orthologs
EC number	1.14.11.16
Gene location (Human)
Chr.	Chromosome 8 (human)
End	61,714,640 bp
Gene location (Mouse)
Chr.	Chromosome 4 (mouse)
End	9,669,344 bp
RNA expression pattern
	Top expressed in
	Achilles tendon; ; stromal cell of endometrium; ; palpebral conjunctiva; ; epithelium of colon; ; islet of Langerhans; ; right adrenal cortex; ; left adrenal gland; ; germinal epithelium; ; left adrenal cortex; ; adipose tissue;
	Top expressed in
	vastus lateralis muscle; ; triceps brachii muscle; ; temporal muscle; ; tibialis anterior muscle; ; sternocleidomastoid muscle; ; medial head of gastrocnemius muscle; ; muscle of thigh; ; soleus muscle; ; digastric muscle; ; interventricular septum;
	More reference expression data
	; ; ; ;
	More reference expression data
Gene ontology
Molecular function	transmembrane transporter binding; dioxygenase activity; structural molecule activity; metal ion binding; protein binding; electron transfer activity; oxidoreductase activity; structural constituent of muscle; calcium ion binding; peptidyl-aspartic acid 3-dioxygenase activity;
Cellular component	integral component of membrane; calcium channel complex; membrane; plasma membrane; cortical endoplasmic reticulum; junctional sarcoplasmic reticulum membrane; sarcoplasmic reticulum; integral component of endoplasmic reticulum membrane; sarcoplasmic reticulum membrane; sarcoplasmic reticulum lumen; endoplasmic reticulum membrane; endoplasmic reticulum; cytoplasm;
Biological process	cellular response to calcium ion; positive regulation of intracellular protein transport; regulation of ryanodine-sensitive calcium-release channel activity; regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity; response to ATP; regulation of cardiac conduction; muscle contraction; positive regulation of calcium ion transport into cytosol; regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion; peptidyl-amino acid modification; detection of calcium ion; positive regulation of transcription, DNA-templated; positive regulation of ryanodine-sensitive calcium-release channel activity; ion transmembrane transport; activation of cysteine-type endopeptidase activity; calcium ion transmembrane transport; positive regulation of proteolysis; regulation of cell communication by electrical coupling; regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum; activation of store-operated calcium channel activity; pattern specification process; negative regulation of cell population proliferation; regulation of protein stability; limb morphogenesis; peptidyl-aspartic acid hydroxylation; roof of mouth development; face morphogenesis; regulation of protein depolymerization; electron transport chain;
	Sources:Amigo / QuickGO
Orthologs
	444
	65973
	ENSG00000198363
	ENSMUSG00000028207
	Q12797
	Q8BSY0
NM_001164750; NM_001164751; NM_001164752; NM_001164753; NM_001164754;
	NM_001164755; NM_001164756; NM_004318; NM_020164; NM_032466; NM_032467; NM_032468
NM_001177849; NM_001177850; NM_001177851; NM_001177852; NM_001177853;
	NM_001177854; NM_001177855; NM_001177856; NM_001290367; NM_023066; NM_133723
NP_001158222; NP_001158223; NP_001158224; NP_001158225; NP_001158226;
	NP_001158227; NP_001158228; NP_004309; NP_064549; NP_115855; NP_115856; NP_115857
NP_001171320; NP_001171321; NP_001171322; NP_001171323; NP_001171324;
	NP_001171325; NP_001171326; NP_001171327; NP_001277296; NP_075553; NP_598484
	Wikidata
View/Edit Human	View/Edit Mouse

Aspartyl/asparaginyl beta-hydroxylase (HAAH) is an enzyme that in humans is encoded by the ASPH gene. ASPH is an alpha-ketoglutarate-dependent hydroxylase, a superfamily non-haem iron-containing proteins.