KEGG   Homo sapiens (human): 444Help
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)
BRITE hierarchy
SSDB OrthologParalogGFIT
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
Motif
Other DBs
NCBI-GeneID: 444
NCBI-ProteinID: NP_004309
OMIM: 600582
HGNC: 757
Ensembl: ENSG00000198363
Vega: OTTHUMG00000164375
Pharos: Q12797(Tbio)
UniProt: Q12797
Structure
PDB: 

Position
8q12.3
AA seq 758 aa AA seqDB search
MAQRKNAKSSGNSSSSGSGSGSTSAGSSSPGARRETKHGGHKNGRKGGLSGTSFFTWFMV
IALLGVWTSVAVVWFDLVDYEEVLGKLGIYDADGDGDFDVDDAKVLLGLKERSTSEPAVP
PEEAEPHTEPEEQVPVEAEPQNIEDEAKEQIQSLLHEMVHAEHVEGEDLQQEDGPTGEPQ
QEDDEFLMATDVDDRFETLEPEVSHEETEHSYHVEETVSQDCNQDMEEMMSEQENPDSSE
PVVEDERLHHDTDDVTYQVYEEQAVYEPLENEGIEITEVTAPPEDNPVEDSQVIVEEVSI
FPVEEQQEVPPETNRKTDDPEQKAKVKKKKPKLLNKFDKTIKAELDAAEKLRKRGKIEEA
VNAFKELVRKYPQSPRARYGKAQCEDDLAEKRRSNEVLRGAIETYQEVASLPDVPADLLK
LSLKRRSDRQQFLGHMRGSLLTLQRLVQLFPNDTSLKNDLGVGYLLIGDNDNAKKVYEEV
LSVTPNDGFAKVHYGFILKAQNKIAESIPYLKEGIESGDPGTDDGRFYFHLGDAMQRVGN
KEAYKWYELGHKRGHFASVWQRSLYNVNGLKAQPWWTPKETGYTELVKSLERNWKLIRDE
GLAVMDKAKGLFLPEDENLREKGDWSQFTLWQQGRRNENACKGAPKTCTLLEKFPETTGC
RRGQIKYSIMHPGTHVWPHTGPTNCRLRMHLGLVIPKEGCKIRCANETKTWEEGKVLIFD
DSFEHEVWQDASSFRLIFIVDVWHPELTPQQRRSLPAI
NT seq 2277 nt NT seq  +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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Ontology (2)   
   KEGG BRITE (2)   
Pathway (2)   
   KEGG PATHWAY (2)   
Disease (3)   
   KEGG DISEASE (1)   
   OMIM (2)   
Chemical reaction (1)   
   KEGG ENZYME (1)   
Genome (1)   
   KEGG GENOME (1)   
Gene (35)   
   KEGG ORTHOLOGY (1)   
   RefGene (20)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (7)   
   OC (1)   
   PHAROS (1)   
   VEGA (1)   
Protein sequence (52)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (50)   
DNA sequence (120)   
   RefSeq(nuc) (50)   
   GenBank (35)   
   EMBL (35)   
Protein domain (13)   
   Pfam (13)   
All databases (229)   

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