| Identification |
| HMDB Protein ID
| CDBP00959 |
| Secondary Accession Numbers
| Not Available |
| Name
| Aspartyl/asparaginyl beta-hydroxylase |
| Description
| Not Available |
| Synonyms
|
- ASP beta-hydroxylase
- Aspartate beta-hydroxylase
- Peptide-aspartate beta-dioxygenase
|
| Gene Name
| ASPH |
| Protein Type
| Enzyme |
| Biological Properties |
| General Function
| Involved in peptide-aspartate beta-dioxygenase activity |
| Specific Function
| Isoform 1: specifically hydroxylates an Asp or Asn residue in certain epidermal growth factor-like (EGF) domains of a number of proteins.
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.
|
| GO Classification
|
| Biological Process |
| limb morphogenesis |
| muscle contraction |
| negative regulation of ryanodine-sensitive calcium-release channel activity |
| palate development |
| pattern specification process |
| peptidyl-aspartic acid hydroxylation |
| positive regulation of calcium ion transport into cytosol |
| positive regulation of intracellular protein transport |
| positive regulation of ryanodine-sensitive calcium-release channel activity |
| regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity |
| regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum |
| response to ATP |
| cellular response to calcium ion |
| positive regulation of transcription, DNA-dependent |
| activation of store-operated calcium channel activity |
| negative regulation of cell proliferation |
| calcium ion transmembrane transport |
| face morphogenesis |
| Cellular Component |
| cortical endoplasmic reticulum |
| junctional sarcoplasmic reticulum membrane |
| integral to endoplasmic reticulum membrane |
| plasma membrane |
| Component |
| membrane |
| cell part |
| membrane part |
| intrinsic to membrane |
| intrinsic to organelle membrane |
| intrinsic to endoplasmic reticulum membrane |
| integral to endoplasmic reticulum membrane |
| Function |
| binding |
| catalytic activity |
| 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 |
| oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen |
| peptide-aspartate beta-dioxygenase activity |
| oxidoreductase activity |
| Molecular Function |
| peptide-aspartate beta-dioxygenase activity |
| structural constituent of muscle |
| oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen |
| calcium ion binding |
| electron carrier activity |
| Process |
| metabolic process |
| macromolecule metabolic process |
| macromolecule modification |
| protein modification process |
| oxidation reduction |
| peptidyl-amino acid modification |
|
| Cellular Location
|
- Single-pass type II membrane protein
- Isoform 1:Endoplasmic reticulum membrane
|
| Pathways
|
Not Available
|
| Gene Properties |
| Chromosome Location
| 8 |
| Locus
| 8q12.1 |
| SNPs
| ASPH |
| Gene Sequence
|
>2277 bp
ATGGCCCAGCGTAAGAATGCCAAGAGCAGCGGCAACAGCAGCAGCAGCGGCTCCGGCAGC
GGTAGCACGAGTGCGGGCAGCAGCAGCCCCGGGGCCCGGAGAGAGACAAAGCATGGAGGA
CACAAGAATGGGAGGAAAGGCGGACTCTCAGGAACTTCATTCTTCACGTGGTTTATGGTG
ATTGCATTGCTGGGCGTCTGGACATCTGTAGCTGTCGTTTGGTTTGATCTTGTTGACTAT
GAGGAAGTTCTAGGAAAACTAGGAATCTATGATGCTGATGGTGATGGAGATTTTGATGTG
GATGATGCCAAAGTTTTATTAGGACTTAAAGAGAGATCTACTTCAGAGCCAGCAGTCCCG
CCAGAAGAGGCTGAGCCACACACTGAGCCCGAGGAGCAGGTTCCTGTGGAGGCAGAACCC
CAGAATATCGAAGATGAAGCAAAAGAACAAATTCAGTCCCTTCTCCATGAAATGGTACAC
GCAGAACATGTTGAGGGAGAAGACTTGCAACAAGAAGATGGACCCACAGGAGAACCACAA
CAAGAGGATGATGAGTTTCTTATGGCGACTGATGTAGATGATAGATTTGAGACCCTGGAA
CCTGAAGTATCTCATGAAGAAACCGAGCATAGTTACCACGTGGAAGAGACAGTTTCACAA
GACTGTAATCAGGATATGGAAGAGATGATGTCTGAGCAGGAAAATCCAGATTCCAGTGAA
CCAGTAGTAGAAGATGAAAGATTGCACCATGATACAGATGATGTAACATACCAAGTCTAT
GAGGAACAAGCAGTATATGAACCTCTAGAAAATGAAGGGATAGAAATCACAGAAGTAACT
GCTCCCCCTGAGGATAATCCTGTAGAAGATTCACAGGTAATTGTAGAAGAAGTAAGCATT
TTTCCTGTGGAAGAACAGCAGGAAGTACCACCAGAAACAAATAGAAAAACAGATGATCCA
GAACAAAAAGCAAAAGTTAAGAAAAAGAAGCCTAAACTTTTAAATAAATTTGATAAGACT
ATTAAAGCTGAACTTGATGCTGCAGAAAAACTCCGTAAAAGGGGAAAAATTGAGGAAGCA
GTGAATGCATTTAAAGAACTAGTACGCAAATACCCTCAGAGTCCACGAGCAAGATATGGG
AAGGCGCAGTGTGAGGATGATTTGGCTGAGAAGAGGAGAAGTAATGAGGTGCTACGTGGA
GCCATCGAGACCTACCAAGAGGTGGCCAGCCTACCTGATGTCCCTGCAGACCTGCTGAAG
CTGAGTTTGAAGCGTCGCTCAGACAGGCAACAATTTCTAGGTCATATGAGAGGTTCCCTG
CTTACCCTGCAGAGATTAGTTCAACTATTTCCCAATGATACTTCCTTAAAAAATGACCTT
GGCGTGGGATACCTCTTGATAGGAGATAATGACAATGCAAAGAAAGTTTATGAAGAGGTG
CTGAGTGTGACACCTAATGATGGCTTTGCTAAAGTCCATTATGGCTTCATCCTGAAGGCA
CAGAACAAAATTGCTGAGAGCATCCCATATTTAAAGGAAGGAATAGAATCCGGAGATCCT
GGCACTGATGATGGGAGATTTTATTTCCACCTGGGGGATGCCATGCAGAGGGTTGGGAAC
AAAGAGGCATATAAGTGGTATGAGCTTGGGCACAAGAGAGGACACTTTGCATCTGTCTGG
CAACGCTCACTCTACAATGTGAATGGACTGAAAGCACAGCCTTGGTGGACCCCAAAAGAA
ACGGGCTACACAGAGTTAGTAAAGTCTTTAGAAAGAAACTGGAAGTTAATCCGAGATGAA
GGCCTTGCAGTGATGGATAAAGCCAAAGGTCTCTTCCTGCCTGAGGATGAAAACCTGAGG
GAAAAAGGGGACTGGAGCCAGTTCACGCTGTGGCAGCAAGGAAGAAGAAATGAAAATGCC
TGCAAAGGAGCTCCTAAAACCTGTACCTTACTAGAAAAGTTCCCCGAGACAACAGGATGC
AGAAGAGGACAGATCAAATATTCCATCATGCACCCCGGGACTCACGTGTGGCCGCACACA
GGGCCCACAAACTGCAGGCTCCGAATGCACCTGGGCTTGGTGATTCCCAAGGAAGGCTGC
AAGATTCGATGTGCCAACGAGACCAAGACCTGGGAGGAAGGCAAGGTGCTCATCTTTGAT
GACTCCTTTGAGCACGAGGTATGGCAGGATGCCTCATCTTTCCGGCTGATATTCATCGTG
GATGTGTGGCATCCGGAACTGACACCACAGCAGAGACGCAGCCTTCCAGCAATTTAG
|
| Protein Properties |
| Number of Residues
| 758 |
| Molecular Weight
| 83267.47 |
| Theoretical pI
| 4.914 |
| Pfam Domain Function
|
|
| Signals
|
Not Available
|
|
Transmembrane Regions
|
Not Available
|
| Protein Sequence
|
>Aspartyl/asparaginyl beta-hydroxylase
MAQRKNAKSSGNSSSSGSGSGSTSAGSSSPGARRETKHGGHKNGRKGGLSGTSFFTWFMV
IALLGVWTSVAVVWFDLVDYEEVLGKLGIYDADGDGDFDVDDAKVLLGLKERSTSEPAVP
PEEAEPHTEPEEQVPVEAEPQNIEDEAKEQIQSLLHEMVHAEHVEGEDLQQEDGPTGEPQ
QEDDEFLMATDVDDRFETLEPEVSHEETEHSYHVEETVSQDCNQDMEEMMSEQENPDSSE
PVVEDERLHHDTDDVTYQVYEEQAVYEPLENEGIEITEVTAPPEDNPVEDSQVIVEEVSI
FPVEEQQEVPPETNRKTDDPEQKAKVKKKKPKLLNKFDKTIKAELDAAEKLRKRGKIEEA
VNAFKELVRKYPQSPRARYGKAQCEDDLAEKRRSNEVLRGAIETYQEVASLPDVPADLLK
LSLKRRSDRQQFLGHMRGSLLTLQRLVQLFPNDTSLKNDLGVGYLLIGDNDNAKKVYEEV
LSVTPNDGFAKVHYGFILKAQNKIAESIPYLKEGIESGDPGTDDGRFYFHLGDAMQRVGN
KEAYKWYELGHKRGHFASVWQRSLYNVNGLKAQPWWTPKETGYTELVKSLERNWKLIRDE
GLAVMDKAKGLFLPEDENLREKGDWSQFTLWQQGRRNENACKGAPKTCTLLEKFPETTGC
RRGQIKYSIMHPGTHVWPHTGPTNCRLRMHLGLVIPKEGCKIRCANETKTWEEGKVLIFD
DSFEHEVWQDASSFRLIFIVDVWHPELTPQQRRSLPAI
|
| External Links |
| GenBank ID Protein
| 14589866 |
| UniProtKB/Swiss-Prot ID
| Q12797 |
| UniProtKB/Swiss-Prot Entry Name
| ASPH_HUMAN |
| PDB IDs
|
|
| GenBank Gene ID
| NM_004318.3 |
| GeneCard ID
| ASPH |
| GenAtlas ID
| ASPH |
| HGNC ID
| HGNC:757 |
| References |
| General References
| Not Available |