KEGG H.sapiens: 443

Homo sapiens (human): 443

Entry

443 CDS H.sapiens

Gene name ASPA

Definition aspartoacylase (Canavan disease) (EC:3.5.1.15)

Orthology K01437 aspartoacylase [EC:3.5.1.15]

Pathway hsa00250 Alanine, aspartate and glutamate metabolism
hsa00340 Histidine metabolism

Disease H00074 Canavan disease (CD)

Class Metabolism; Amino Acid Metabolism; Alanine, aspartate and glutamate
metabolism [PATH:hsa00250]
Metabolism; Amino Acid Metabolism; Histidine metabolism
[PATH:hsa00340]

SSDB

Motif Pfam: AstE_AspA SDP_N

Other DBs NCBI-GI: 4557335
NCBI-GeneID: 443
OMIM: 608034
HGNC: 756
HPRD: 02033
Ensembl: ENSG00000108381
UniProt: P45381 Q6FH48

Structure

PDB: 2O53 2O4H 2Q51 2I3C

Position 17pter-p13

AA seq 313 aa
MTSCHIAEEHIQKVAIFGGTHGNELTGVFLVKHWLENGAEIQRTGLEVKPFITNPRAVKK
CTRYIDCDLNRIFDLENLGKKMSEDLPYEVRRAQEINHLFGPKDSEDSYDIIFDLHNTTS
NMGCTLILEDSRNNFLIQMFHYIKTSLAPLPCYVYLIEHPSLKYATTRSIAKYPVGIEVG
PQPQGVLRADILDQMRKMIKHALDFIHHFNEGKEFPPCAIEVYKIIEKVDYPRDENGEIA
AIIHPNLQDQDWKPLHPGDPMFLTLDGKTIPLGGDCTVYPVFVNEAAYYEKKEAFAKTTK
LTLNAKSIRCCLH

NT seq 942 nt +upstreamnt +downstreamnt
atgacttcttgtcacattgctgaagaacatatacaaaaggttgctatctttggaggaacc
catgggaatgagctaaccggagtatttctggttaagcattggctagagaatggcgctgag
attcagagaacagggctggaggtaaaaccatttattactaaccccagagcagtgaagaag
tgtaccagatatattgactgtgacctgaatcgcatttttgaccttgaaaatcttggcaaa
aaaatgtcagaagatttgccatatgaagtgagaagggctcaagaaataaatcatttattt
ggtccaaaagacagtgaagattcctatgacattatttttgaccttcacaacaccacctct
aacatggggtgcactcttattcttgaggattccaggaataactttttaattcagatgttt
cattacattaagacttctctggctccactaccctgctacgtttatctgattgagcatcct
tccctcaaatatgcgaccactcgttccatagccaagtatcctgtgggtatagaagttggt
cctcagcctcaaggggttctgagagctgatatcttggatcaaatgagaaaaatgattaaa
catgctcttgattttatacatcatttcaatgaaggaaaagaatttcctccctgcgccatt
gaggtctataaaattatagagaaagttgattacccccgggatgaaaatggagaaattgct
gctatcatccatcctaatctgcaggatcaagactggaaaccactgcatcctggggatccc
atgtttttaactcttgatgggaagacgatcccactgggcggagactgtaccgtgtacccc
gtgtttgtgaatgaggccgcatattacgaaaagaaagaagcttttgcaaagacaactaaa
ctaacgctcaatgcaaaaagtattcgctgctgtttacattag

All links

Pathway (2)   
   KEGG PATHWAY (2)   
Disease (2)   
   KEGG DISEASE (1)   
   OMIM (1)   
Chemical reaction (1)   
   KEGG ENZYME (1)   
Genome (1)   
   KEGG GENOME (1)   
Gene (10)   
   KEGG ORTHOLOGY (1)   
   NCBI-Gene (1)   
   NCBI-GI (4)   
   UNIGENE (1)   
   HGNC (1)   
   HPRD (1)   
   ENSEMBL-HSA (1)   
Protein sequence (6)   
   UniProt (2)   
   RefSeq(pep) (2)   
   IPI (2)   
DNA sequence (8)   
   RefSeq(nuc) (2)   
   GenBank (3)   
   EMBL (3)   
3D Structure (4)   
   PDB (4)   
Protein domain (2)   
   Pfam (2)   
All databases (36)

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