ASPH

For camera lenses, see Aspheric lens § Camera lenses.

Aspartyl/asparaginyl beta-hydroxylase (HAAH) is an enzyme that in humans is encoded by the ASPH gene.^[5][6][7] ASPH is an alpha-ketoglutarate-dependent hydroxylase, a superfamily non-haem iron-containing proteins.

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)[1] Band 8q12.3 Start 61,500,556 bp[1] End 61,714,640 bp[1]
Gene location (Mouse) Chr. Chromosome 4 (mouse)[2] Band 4|4 A1 Start 9,448,069 bp[2] End 9,669,344 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) 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 BioGPS 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 Species Human Mouse Entrez 444 65973 Ensembl ENSG00000198363 ENSMUSG00000028207 UniProt Q12797 Q8BSY0 RefSeq (mRNA) 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 RefSeq (protein) 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 Location (UCSC) Chr 8: 61.5 – 61.71 Mb Chr 4: 9.45 – 9.67 Mb PubMed search [3] [4]
Wikidata
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Function

This gene is thought to play an important role in calcium homeostasis. Alternative splicing of this gene results in five transcript variants which vary in protein translation, the coding of catalytic domains, and tissue expression. Variation among these transcripts impacts their functions which involve roles in the calcium storage and release process in the endoplasmic and sarcoplasmic reticulum as well as hydroxylation of aspartic acid and asparagine in epidermal growth factor-like domains of various proteins.^[7]

Clinical significance

As early as 1996, the over-expression of HAAH was recognized as an indicator of carcinoma in humans. Further research has correlated elevated HAAH levels (variously in affected tissue or blood serum) with hepatocellular (liver) carcinoma^[8][9] adenocarcinoma (pancreatic cancer),^[10] colorectal cancer,^[11] prostate cancer.^[9] and lung cancer.^[12] The pancreatic study^[10] showed elevated HAAH only in diseased tissue, but not in adjacent normal and inflamed tissue.

Mutations in ASPH cause Traboulsi syndrome.^[13]