KEGG   Homo sapiens (human): 3704
Entry
3704              CDS       T01001                                 

Gene name
ITPA, C20orf37, HLC14-06-P, ITPase, My049, NTPase, dJ794I6.3
Definition
(RefSeq) inosine triphosphatase
  KO
K01519  inosine triphosphate pyrophosphatase [EC:3.6.1.-]
Organism
hsa  Homo sapiens (human)
Pathway
hsa00230  Purine metabolism
hsa00983  Drug metabolism - other enzymes
hsa01100  Metabolic pathways
Disease
H00606  Early infantile epileptic encephalopathy
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09104 Nucleotide metabolism
   00230 Purine metabolism
    3704 (ITPA)
  09111 Xenobiotics biodegradation and metabolism
   00983 Drug metabolism - other enzymes
    3704 (ITPA)
Enzymes [BR:hsa01000]
 3. Hydrolases
  3.6  Acting on acid anhydrides
   3.6.1  In phosphorus-containing anhydrides
    3.6.1.-  
     3704 (ITPA)
SSDB
Motif
Pfam: Ham1p_like
Other DBs
NCBI-GeneID: 3704
NCBI-ProteinID: NP_258412
OMIM: 147520
HGNC: 6176
Ensembl: ENSG00000125877
Vega: OTTHUMG00000031738
Pharos: Q9BY32(Tbio)
UniProt: Q9BY32 A0A0S2Z3W7
Structure
PDB: 
2CAR 2I5D 4F95 2J4E

Position
20p13
AA seq 194 aa
MAASLVGKKIVFVTGNAKKLEEVVQILGDKFPCTLVAQKIDLPEYQGEPDEISIQKCQEA
VRQVQGPVLVEDTCLCFNALGGLPGPYIKWFLEKLKPEGLHQLLAGFEDKSAYALCTFAL
STGDPSQPVRLFRGRTSGRIVAPRGCQDFGWDPCFQPDGYEQTYAEMPKAEKNAVSHRFR
ALLELQEYFGSLAA
NT seq 585 nt   +upstreamnt  +downstreamnt
atggcggcctcattggtggggaagaagatcgtgtttgtaacggggaacgccaagaagctg
gaggaggtcgttcagattctaggagataagtttccatgcactttggtggcacagaaaatt
gacctgccggagtaccagggggagccggatgagatttccatacagaaatgtcaggaggca
gttcgccaggtacaggggcccgtgctggttgaggacacttgtctgtgcttcaatgccctt
ggagggctccccggcccctacataaagtggtttctggagaagttaaagcctgaaggtctc
caccagctcctggccgggttcgaggacaagtcagcctatgcgctctgcacgtttgcactc
agcaccggggacccaagccagcccgtgcgcctgttcaggggccggacctcgggccggatc
gtggcacccagaggctgccaggactttggctgggacccctgctttcagcctgatggatat
gagcagacgtacgcagagatgcctaaggcggagaagaacgctgtctcccatcgcttccgg
gccctgctggagctgcaggagtactttggcagtttggcagcttga

  All links  
Ontology (2)   
   KEGG BRITE (2)   
Pathway (3)   
   KEGG PATHWAY (3)   
Disease (4)   
   KEGG DISEASE (1)   
   OMIM (3)   
Chemical substance (16)   
   KEGG COMPOUND (16)   
Chemical reaction (7)   
   KEGG REACTION (7)   
Genome (1)   
   KEGG GENOME (1)   
Gene (23)   
   KEGG ORTHOLOGY (1)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (15)   
   OC (1)   
   PHAROS (1)   
   VEGA (1)   
Protein sequence (15)   
   UniProt (2)   
   SWISS-PROT (1)   
   RefSeq(pep) (12)   
DNA sequence (54)   
   RefSeq(nuc) (14)   
   GenBank (20)   
   EMBL (20)   
Protein domain (1)   
   Pfam (1)   
All databases (126)   

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