Homo sapiens (human): 444
Entry
444 CDS
T01001
Gene name
ASPH, AAH, BAH, CASQ2BP1, FDLAB, HAAH, JCTN, junctin
Definition
(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
Disease
H02255
FDLAB syndrome
Brite
KEGG Orthology (KO) [BR:
hsa00001
]
09130 Environmental Information Processing
09132 Signal transduction
04020 Calcium signaling pathway
444 (ASPH)
09150 Organismal Systems
09153 Circulatory system
04260 Cardiac muscle contraction
444 (ASPH)
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-B-Hydro_N
Asp_Arg_Hydrox
TPR_16
TPR_14
TPR_2
TPR_6
TPR_19
TPR_11
TPR_8
YfiO
SNAP
ATG27
ANAPC3
Other DBs
NCBI-GeneID:
444
NCBI-ProteinID:
NP_004309
OMIM:
600582
HGNC:
757
Ensembl:
ENSG00000198363
Vega:
OTTHUMG00000164375
Pharos:
Q12797
(Tbio)
UniProt:
Q12797
LinkDB
Structure
PDB:
5JQY
5APA
5JZ8
5JZA
5JTC
6RK9
5JZ6
5JZU
Position
8q12.3
AA seq
758 aa
MAQRKNAKSSGNSSSSGSGSGSTSAGSSSPGARRETKHGGHKNGRKGGLSGTSFFTWFMV
IALLGVWTSVAVVWFDLVDYEEVLGKLGIYDADGDGDFDVDDAKVLLGLKERSTSEPAVP
PEEAEPHTEPEEQVPVEAEPQNIEDEAKEQIQSLLHEMVHAEHVEGEDLQQEDGPTGEPQ
QEDDEFLMATDVDDRFETLEPEVSHEETEHSYHVEETVSQDCNQDMEEMMSEQENPDSSE
PVVEDERLHHDTDDVTYQVYEEQAVYEPLENEGIEITEVTAPPEDNPVEDSQVIVEEVSI
FPVEEQQEVPPETNRKTDDPEQKAKVKKKKPKLLNKFDKTIKAELDAAEKLRKRGKIEEA
VNAFKELVRKYPQSPRARYGKAQCEDDLAEKRRSNEVLRGAIETYQEVASLPDVPADLLK
LSLKRRSDRQQFLGHMRGSLLTLQRLVQLFPNDTSLKNDLGVGYLLIGDNDNAKKVYEEV
LSVTPNDGFAKVHYGFILKAQNKIAESIPYLKEGIESGDPGTDDGRFYFHLGDAMQRVGN
KEAYKWYELGHKRGHFASVWQRSLYNVNGLKAQPWWTPKETGYTELVKSLERNWKLIRDE
GLAVMDKAKGLFLPEDENLREKGDWSQFTLWQQGRRNENACKGAPKTCTLLEKFPETTGC
RRGQIKYSIMHPGTHVWPHTGPTNCRLRMHLGLVIPKEGCKIRCANETKTWEEGKVLIFD
DSFEHEVWQDASSFRLIFIVDVWHPELTPQQRRSLPAI
NT seq
2277 nt
+upstream
nt +downstream
nt
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
DBGET
integrated database retrieval system
