KEGG   Homo sapiens (human): 5167Help
Entry
5167              CDS       T01001                                 

Gene name
ENPP1, ARHR2, COLED, M6S1, NPP1, NPPS, PC-1, PCA1, PDNP1
Definition
(RefSeq) ectonucleotide pyrophosphatase/phosphodiesterase 1
  KO
K01513  ectonucleotide pyrophosphatase/phosphodiesterase family member 1/3 [EC:3.1.4.1 3.6.1.9]
Organism
hsa  Homo sapiens (human)
Pathway
hsa00230  Purine metabolism
hsa00240  Pyrimidine metabolism
hsa00500  Starch and sucrose metabolism
hsa00740  Riboflavin metabolism
hsa00760  Nicotinate and nicotinamide metabolism
hsa00770  Pantothenate and CoA biosynthesis
hsa01100  Metabolic pathways
Disease
H00214  Hypophosphatemic rickets
H00409  Type 2 diabetes mellitus
H00431  Ossification of the posterior longitudinal ligament of spine
H01002  Generalized arterial calcification of infancy
H01394  Cole disease
H02106  Genetic obesity
H02139  Autosomal recessive hypophosphatemic rickets
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09101 Carbohydrate metabolism
   00500 Starch and sucrose metabolism
    5167 (ENPP1)
  09104 Nucleotide metabolism
   00230 Purine metabolism
    5167 (ENPP1)
   00240 Pyrimidine metabolism
    5167 (ENPP1)
  09108 Metabolism of cofactors and vitamins
   00740 Riboflavin metabolism
    5167 (ENPP1)
   00760 Nicotinate and nicotinamide metabolism
    5167 (ENPP1)
   00770 Pantothenate and CoA biosynthesis
    5167 (ENPP1)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04090 CD molecules [BR:hsa04090]
    5167 (ENPP1)
   00537 Glycosylphosphatidylinositol (GPI)-anchored proteins [BR:hsa00537]
    5167 (ENPP1)
Enzymes [BR:hsa01000]
 3. Hydrolases
  3.1  Acting on ester bonds
   3.1.4  Phosphoric-diester hydrolases
    3.1.4.1  phosphodiesterase I
     5167 (ENPP1)
  3.6  Acting on acid anhydrides
   3.6.1  In phosphorus-containing anhydrides
    3.6.1.9  nucleotide diphosphatase
     5167 (ENPP1)
CD molecules [BR:hsa04090]
 Proteins
  5167 (ENPP1)
Glycosylphosphatidylinositol (GPI)-anchored proteins [BR:hsa00537]
 Enzymes
  5167 (ENPP1)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: Phosphodiest Somatomedin_B Endonuclease_NS Sulfatase Metalloenzyme
Motif
Other DBs
NCBI-GeneID: 5167
NCBI-ProteinID: NP_006199
OMIM: 173335
HGNC: 3356
Ensembl: ENSG00000197594
Vega: OTTHUMG00000015572
Pharos: P22413(Tchem)
UniProt: P22413
Structure
PDB: 

Position
6q23.2
AA seq 925 aa AA seqDB search
MERDGCAGGGSRGGEGGRAPREGPAGNGRDRGRSHAAEAPGDPQAAASLLAPMDVGEEPL
EKAARARTAKDPNTYKVLSLVLSVCVLTTILGCIFGLKPSCAKEVKSCKGRCFERTFGNC
RCDAACVELGNCCLDYQETCIEPEHIWTCNKFRCGEKRLTRSLCACSDDCKDKGDCCINY
SSVCQGEKSWVEEPCESINEPQCPAGFETPPTLLFSLDGFRAEYLHTWGGLLPVISKLKK
CGTYTKNMRPVYPTKTFPNHYSIVTGLYPESHGIIDNKMYDPKMNASFSLKSKEKFNPEW
YKGEPIWVTAKYQGLKSGTFFWPGSDVEINGIFPDIYKMYNGSVPFEERILAVLQWLQLP
KDERPHFYTLYLEEPDSSGHSYGPVSSEVIKALQRVDGMVGMLMDGLKELNLHRCLNLIL
ISDHGMEQGSCKKYIYLNKYLGDVKNIKVIYGPAARLRPSDVPDKYYSFNYEGIARNLSC
REPNQHFKPYLKHFLPKRLHFAKSDRIEPLTFYLDPQWQLALNPSERKYCGSGFHGSDNV
FSNMQALFVGYGPGFKHGIEADTFENIEVYNLMCDLLNLTPAPNNGTHGSLNHLLKNPVY
TPKHPKEVHPLVQCPFTRNPRDNLGCSCNPSILPIEDFQTQFNLTVAEEKIIKHETLPYG
RPRVLQKENTICLLSQHQFMSGYSQDILMPLWTSYTVDRNDSFSTEDFSNCLYQDFRIPL
SPVHKCSFYKNNTKVSYGFLSPPQLNKNSSGIYSEALLTTNIVPMYQSFQVIWRYFHDTL
LRKYAEERNGVNVVSGPVFDFDYDGRCDSLENLRQKRRVIRNQEILIPTHFFIVLTSCKD
TSQTPLHCENLDTLAFILPHRTDNSESCVHGKHDSSWVEELLMLHRARITDVEHITGLSF
YQQRKEPVSDILKLKTHLPTFSQED
NT seq 2778 nt NT seq  +upstreamnt  +downstreamnt
atggagcgcgacggctgcgcggggggcgggagccgcggcggcgagggcgggcgcgctccc
cgggagggcccggcggggaacggccgcgatcggggccgcagccacgctgccgaggcgccc
ggggacccgcaggcggccgcgtccttgctggcccctatggacgtgggggaggagccgctg
gagaaggcggcgcgcgcccgcactgccaaggaccccaacacctataaagtactctcgctg
gtattgtcagtatgtgtgttaacaacaatacttggttgtatatttgggttgaaaccaagc
tgtgccaaagaagttaaaagttgcaaaggtcgctgtttcgagagaacatttgggaactgt
cgctgtgatgctgcctgtgttgagcttggaaactgctgtttagattaccaggagacgtgc
atagaaccagaacatatatggacttgcaacaaattcaggtgtggtgagaaaaggttgacc
agaagcctctgtgcctgttcagatgactgcaaggacaagggcgactgctgcatcaactac
agttctgtgtgtcaaggtgagaaaagttgggtagaagaaccatgtgagagcattaatgag
ccacagtgcccagcagggtttgaaacgcctcctaccctcttattttctttggatggattc
agggcagaatatttacacacttggggtggacttcttcctgttattagcaaactaaaaaaa
tgtggaacatatactaaaaacatgagaccggtatatccaacaaaaactttccccaatcac
tacagcattgtcaccggattgtatccagaatctcatggcataatcgacaataaaatgtat
gatcccaaaatgaatgcttccttttcacttaaaagtaaagagaaatttaatcctgagtgg
tacaaaggagaaccaatttgggtcacagctaagtatcaaggcctcaagtctggcacattt
ttctggccaggatcagatgtggaaattaacggaattttcccagacatctataaaatgtat
aatggttcagtaccatttgaagaaaggattttagctgttcttcagtggctacagcttcct
aaagatgaaagaccacacttttacactctgtatttagaagaaccagattcttcaggtcat
tcatatggaccagtcagcagtgaagtcatcaaagccttgcagagggttgatggtatggtt
ggtatgctgatggatggtctgaaagagctgaacttgcacagatgcctgaacctcatcctt
atttcagatcatggcatggaacaaggcagttgtaagaaatacatatatctgaataaatat
ttgggggatgttaaaaatattaaagttatctatggacctgcagctcgattgagaccctct
gatgtcccagataaatactattcatttaactatgaaggcattgcccgaaatctttcttgc
cgggaaccaaaccagcacttcaaaccttacctgaaacatttcttacctaagcgtttgcac
tttgctaagagtgatagaattgagcccttgacattctatttggaccctcagtggcaactt
gcattgaatccctcagaaaggaaatattgtggaagtggatttcatggctctgacaatgta
ttttcaaatatgcaagccctctttgttggctatggacctggattcaagcatggcattgag
gctgacacctttgaaaacattgaagtctataacttaatgtgtgatttactgaatttgaca
ccggctcctaataacggaactcatggaagtcttaaccaccttctaaagaatcctgtttat
acgccaaagcatcccaaagaagtgcaccccctggtacagtgccccttcacaagaaacccc
agagataaccttggctgctcatgtaacccttcgattttgccgattgaggattttcaaaca
cagttcaatctgactgtggcagaagagaagattattaagcatgaaactttaccctatgga
agacctagagttctccagaaggaaaacaccatctgtcttctttcccagcaccagtttatg
agtggatacagccaagacatcttaatgcccctttggacatcctataccgtggacagaaat
gacagtttctctacggaagacttctccaactgtctgtaccaggactttagaattcctctt
agtcctgtccataaatgttcattttataaaaataacaccaaagtgagttacgggttcctc
tccccaccacaactaaataaaaattcaagtggaatatattctgaagctttgcttactaca
aatatagtgccaatgtaccagagttttcaagttatatggcgctactttcatgacacccta
ctgcgaaagtatgctgaagaaagaaatggtgtcaatgtcgtcagtggtcctgtgtttgac
tttgattatgatggacgttgtgattccttagagaatctgaggcaaaaaagaagagtcatc
cgtaaccaagaaattttgattccaactcacttctttattgtgctaacaagctgtaaagat
acatctcagacgcctttgcactgtgaaaacctagacaccttagctttcattttgcctcac
aggactgataacagcgagagctgtgtgcatgggaagcatgactcctcatgggttgaagaa
ttgttaatgttacacagagcacggatcacagatgttgagcacatcactggactcagcttc
tatcaacaaagaaaagagccagtttcagacattttaaagttgaaaacacatttgccaacc
tttagccaagaagactga

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