KEGG   Homo sapiens (human): 4329Help
Entry
4329              CDS       T01001                                 

Gene name
ALDH6A1, MMSADHA, MMSDH
Definition
(RefSeq) aldehyde dehydrogenase 6 family member A1
  KO
K00140  malonate-semialdehyde dehydrogenase (acetylating) / methylmalonate-semialdehyde dehydrogenase [EC:1.2.1.18 1.2.1.27]
Organism
hsa  Homo sapiens (human)
Pathway
hsa00280  Valine, leucine and isoleucine degradation
hsa00410  beta-Alanine metabolism
hsa00562  Inositol phosphate metabolism
hsa00640  Propanoate metabolism
hsa01100  Metabolic pathways
hsa01200  Carbon metabolism
Network
nt06024  Valine, leucine and isoleucine degradation
  Element
N00852  Valine degradation
N00853  ALDH6A1 deficiency in valine degradation
Disease
H02285  Methylmalonate semialdehyde dehydrogenase deficiency
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09101 Carbohydrate metabolism
   00640 Propanoate metabolism
    4329 (ALDH6A1)
   00562 Inositol phosphate metabolism
    4329 (ALDH6A1)
  09105 Amino acid metabolism
   00280 Valine, leucine and isoleucine degradation
    4329 (ALDH6A1)
  09106 Metabolism of other amino acids
   00410 beta-Alanine metabolism
    4329 (ALDH6A1)
Enzymes [BR:hsa01000]
 1. Oxidoreductases
  1.2  Acting on the aldehyde or oxo group of donors
   1.2.1  With NAD+ or NADP+ as acceptor
    1.2.1.18  malonate-semialdehyde dehydrogenase (acetylating)
     4329 (ALDH6A1)
    1.2.1.27  methylmalonate-semialdehyde dehydrogenase (CoA-acylating)
     4329 (ALDH6A1)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: Aldedh LuxC
Motif
Other DBs
NCBI-GeneID: 4329
NCBI-ProteinID: NP_005580
OMIM: 603178
HGNC: 7179
Ensembl: ENSG00000119711
Vega: OTTHUMG00000171203
Pharos: Q02252(Tbio)
UniProt: Q02252 A0A024R6G4
LinkDB All DBs
Position
14q24.3
AA seq 535 aa AA seqDB search
MAALLAAAAVRARILQVSSKVKSSPTWYSASSFSSSVPTVKLFIGGKFVESKSDKWIDIH
NPATNEVIGRVPQATKAEMDAAIASCKRAFPAWADTSVLSRQQVLLRYQQLIKENLKEIA
KLITLEQGKTLADAEGDVFRGLQVVEHACSVTSLMMGETMPSITKDMDLYSYRLPLGVCA
GIAPFNFPAMIPLWMFPMAMVCGNTFLMKPSERVPGATMLLAKLLQDSGAPDGTLNIIHG
QHEAVNFICDHPDIKAISFVGSNKAGEYIFERGSRHGKRVQANMGAKNHGVVMPDANKEN
TLNQLVGAAFGAAGQRCMALSTAVLVGEAKKWLPELVEHAKNLRVNAGDQPGADLGPLIT
PQAKERVCNLIDSGTKEGASILLDGRKIKVKGYENGNFVGPTIISNVKPNMTCYKEEIFG
PVLVVLETETLDEAIQIVNNNPYGNGTAIFTTNGATARKYAHLVDVGQVGVNVPIPVPLP
MFSFTGSRSSFRGDTNFYGKQGIQFYTQLKTITSQWKEEDATLSSPAVVMPTMGR
NT seq 1608 nt NT seq  +upstreamnt  +downstreamnt
atggcggcgctattggcggcggcggcagtgcgagcccggatcctgcaggtttcttccaag
gtgaaatccagtcccacctggtattcagcatcttccttctcttcttcagtgccaactgta
aagctcttcattggtgggaaattcgttgaatccaaaagtgacaaatggatcgatatccac
aacccagccaccaatgaggtcattggtcgggtccctcaggccaccaaggcagaaatggat
gcagccattgcttcctgcaaacgtgcttttcctgcatgggcagacacttcagtattaagc
cgccagcaggtcttgctccgctatcaacaacttattaaagaaaacttgaaagaaattgcc
aagttaatcacattggaacaagggaagaccctagctgatgctgaaggagatgtatttcga
ggccttcaggtggttgagcatgcctgtagtgtgacatccctcatgatgggagagaccatg
ccatccatcaccaaagacatggacctttattcctaccgtctgcctctgggagtgtgtgca
ggcattgctccattcaattttcctgccatgatccccctttggatgtttcccatggccatg
gtgtgtggaaataccttcctaatgaaaccatctgagcgagtccctggagcaactatgctt
cttgctaagttgctccaggattctggtgcccctgatggaacattaaacatcatccatgga
cagcatgaagctgtaaattttatttgcgatcatccggacatcaaagcaatcagctttgtg
ggatccaacaaggcaggagagtatatcttcgagagaggatcaagacatggcaagagggtt
caagccaatatgggagccaagaaccatggggtagtcatgccagatgccaataaggaaaat
accctgaaccagctggttggggcagcatttggagctgctggtcagcgctgcatggctctt
tcaacagcagtccttgtgggagaagccaagaagtggctgccagagctggtggagcatgcc
aaaaacctgagagtcaatgcaggagatcagcctggagctgatcttggccctctgatcact
ccccaggccaaagagcgagtctgtaatctgattgatagtggaacaaaggagggagcttcc
atccttcttgatggacgaaaaattaaagtgaaaggctatgaaaatggcaactttgttgga
ccaaccatcatctcgaatgtcaagccaaatatgacctgttacaaagaggagatttttggt
ccagttcttgtggttctggagacagaaacattggatgaagccatccagattgtaaataac
aacccatatggaaatggaactgccatcttcaccaccaatggagccactgctcggaaatat
gcccacttggtggatgttggacaggtgggagtgaatgtccccattccagtgcctttgcca
atgttctcattcaccggctctcgatcctccttcaggggagacaccaatttctatggcaaa
cagggcatccaattctacactcagttaaagaccattacttctcagtggaaagaagaagat
gctactctttcctcacctgctgttgtcatgcctaccatgggccgttag

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