Homo sapiens (human): 4329
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Entry
4329 CDS
T01001
Symbol
ALDH6A1, MMSADHA, MMSDH
Name
(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
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)
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GFIT
Motif
Pfam:
Aldedh
LuxC
Motif
Other DBs
NCBI-GeneID:
4329
NCBI-ProteinID:
NP_005580
OMIM:
603178
HGNC:
7179
Ensembl:
ENSG00000119711
UniProt:
Q02252
A0A024R6G4
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Position
14:complement(74056847..74084453)
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AA seq
535 aa
AA seq
DB search
MAALLAAAAVRARILQVSSKVKSSPTWYSASSFSSSVPTVKLFIGGKFVESKSDKWIDIH
NPATNEVIGRVPQATKAEMDAAIASCKRAFPAWADTSVLSRQQVLLRYQQLIKENLKEIA
KLITLEQGKTLADAEGDVFRGLQVVEHACSVTSLMMGETMPSITKDMDLYSYRLPLGVCA
GIAPFNFPAMIPLWMFPMAMVCGNTFLMKPSERVPGATMLLAKLLQDSGAPDGTLNIIHG
QHEAVNFICDHPDIKAISFVGSNKAGEYIFERGSRHGKRVQANMGAKNHGVVMPDANKEN
TLNQLVGAAFGAAGQRCMALSTAVLVGEAKKWLPELVEHAKNLRVNAGDQPGADLGPLIT
PQAKERVCNLIDSGTKEGASILLDGRKIKVKGYENGNFVGPTIISNVKPNMTCYKEEIFG
PVLVVLETETLDEAIQIVNNNPYGNGTAIFTTNGATARKYAHLVDVGQVGVNVPIPVPLP
MFSFTGSRSSFRGDTNFYGKQGIQFYTQLKTITSQWKEEDATLSSPAVVMPTMGR
NT seq
1608 nt
NT seq
+upstream
nt +downstream
nt
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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