KEGG   Homo sapiens (human): 444
Entry
444               CDS       T01001                                 
Symbol
ASPH, AAH, BAH, CASQ2BP1, FDLAB, HAAH, JCTN, junctin
Name
(RefSeq) aspartate beta-hydroxylase
  KO
K00476  aspartate beta-hydroxylase [EC:1.14.11.16]
Organism
hsa  Homo sapiens (human)
Pathway
hsa04020  Calcium signaling pathway
hsa04260  Cardiac muscle contraction
Network
nt06528  Calcium signaling
  Element
N01638  Skeletal-type VGCC-RYR signaling
N01639  Cardiac-type VGCC-RYR signaling
Disease
H02255  FDLAB syndrome
Brite
Enzymes [BR:hsa01000]
 1. Oxidoreductases
  1.14  Acting on paired donors, with incorporation or reduction of molecular oxygen
   1.14.11  With 2-oxoglutarate as one donor, and incorporation of one atom of oxygen into each donor
    1.14.11.16  peptide-aspartate beta-dioxygenase
     444 (ASPH)
SSDB
Motif
Pfam: Asp_Arg_Hydrox Asp-B-Hydro_N TPR_14 TPR_16 TPR_2 TPR_6 TPR_19 TPR_11 TPR_8 SNAP TPR_Slam ATG27 YfiO DUF2299 ANAPC3
Other DBs
NCBI-GeneID: 444
NCBI-ProteinID: NP_004309
OMIM: 600582
HGNC: 757
Ensembl: ENSG00000198363
UniProt: Q12797
Structure
LinkDB
Position
8:complement(61500556..61714592)
AA seq 758 aa
MAQRKNAKSSGNSSSSGSGSGSTSAGSSSPGARRETKHGGHKNGRKGGLSGTSFFTWFMV
IALLGVWTSVAVVWFDLVDYEEVLGKLGIYDADGDGDFDVDDAKVLLGLKERSTSEPAVP
PEEAEPHTEPEEQVPVEAEPQNIEDEAKEQIQSLLHEMVHAEHVEGEDLQQEDGPTGEPQ
QEDDEFLMATDVDDRFETLEPEVSHEETEHSYHVEETVSQDCNQDMEEMMSEQENPDSSE
PVVEDERLHHDTDDVTYQVYEEQAVYEPLENEGIEITEVTAPPEDNPVEDSQVIVEEVSI
FPVEEQQEVPPETNRKTDDPEQKAKVKKKKPKLLNKFDKTIKAELDAAEKLRKRGKIEEA
VNAFKELVRKYPQSPRARYGKAQCEDDLAEKRRSNEVLRGAIETYQEVASLPDVPADLLK
LSLKRRSDRQQFLGHMRGSLLTLQRLVQLFPNDTSLKNDLGVGYLLIGDNDNAKKVYEEV
LSVTPNDGFAKVHYGFILKAQNKIAESIPYLKEGIESGDPGTDDGRFYFHLGDAMQRVGN
KEAYKWYELGHKRGHFASVWQRSLYNVNGLKAQPWWTPKETGYTELVKSLERNWKLIRDE
GLAVMDKAKGLFLPEDENLREKGDWSQFTLWQQGRRNENACKGAPKTCTLLEKFPETTGC
RRGQIKYSIMHPGTHVWPHTGPTNCRLRMHLGLVIPKEGCKIRCANETKTWEEGKVLIFD
DSFEHEVWQDASSFRLIFIVDVWHPELTPQQRRSLPAI
NT seq 2277 nt   +upstreamnt  +downstreamnt
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

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