MGP Database

MGP001949

Record overview

MGPD ID	MGP001949
Gene ID	4329
Species	Homo sapiens (Human)
Gene Name	aldehyde dehydrogenase 6 family, member A1
Gene Symbol	ALDH6A1
Synonyms	MMSDH; MMSADHA;
Alternate names	methylmalonate-semialdehyde dehydrogenase [acylating], mitochondrial; malonate-semialdehyde dehydrogenase; mitochondrial acylating methylmalonate-semialdehyde dehydrogenase;
Chromosome	14
Map Location	14q24.3
EC Number	1.2.1.18
Summary	This gene encodes a member of the aldehyde dehydrogenase protein family. The encoded protein is a mitochondrial methylmalonate semialdehyde dehydrogenase that plays a role in the valine and pyrimidine catabolic pathways. This protein catalyzes the irreversible oxidative decarboxylation of malonate and methylmalonate semialdehydes to acetyl- and propionyl-CoA. Methylmalonate semialdehyde dehydrogenase deficiency is characterized by elevated beta-alanine, 3-hydroxypropionic acid, and both isomers of 3-amino and 3-hydroxyisobutyric acids in urine organic acids. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jun 2013]
Orthologs	View orthologs and multiple alignments for ALDH6A1

Proteins

methylmalonate-semialdehyde dehydrogenase [acylating], mitochondrial isoform 1 precursor

Refseq ID:	NP_005580
Protein GI:	11095441
UniProt ID:	Q02252
mRNA ID:	NM_005589
Length:	535
RefSeq Status:

MAALLAAAAVRARILQVSSKVKSSPTWYSASSFSSSVPTVKLFIGGKFVESKSDKWIDIHNPATNEVIGRVPQATKAEMDAAIASCKRAFPAWADTSVLS
RQQVLLRYQQLIKENLKEIAKLITLEQGKTLADAEGDVFRGLQVVEHACSVTSLMMGETMPSITKDMDLYSYRLPLGVCAGIAPFNFPAMIPLWMFPMAM
VCGNTFLMKPSERVPGATMLLAKLLQDSGAPDGTLNIIHGQHEAVNFICDHPDIKAISFVGSNKAGEYIFERGSRHGKRVQANMGAKNHGVVMPDANKEN
TLNQLVGAAFGAAGQRCMALSTAVLVGEAKKWLPELVEHAKNLRVNAGDQPGADLGPLITPQAKERVCNLIDSGTKEGASILLDGRKIKVKGYENGNFVG
PTIISNVKPNMTCYKEEIFGPVLVVLETETLDEAIQIVNNNPYGNGTAIFTTNGATARKYAHLVDVGQVGVNVPIPVPLPMFSFTGSRSSFRGDTNFYGK
QGIQFYTQLKTITSQWKEEDATLSSPAVVMPTMGR

transit_peptide: 1..33
inference: non-experimental evidence, no additional details recorded
note: Mitochondrion (By similarity); propagated from UniProtKB/Swiss-Prot (Q02252.2)
calculated_mol_wt: 3469
peptide sequence: 
MAALLAAAAVRARILQVSSKVKSSPTWYSASSF

mat_peptide: 34..535
product: Methylmalonate-semialdehyde dehydrogenase [acylating], mitochondrial
experiment: experimental evidence, no additional details recorded
note: propagated from UniProtKB/Swiss-Prot (Q02252.2)
calculated_mol_wt: 54389
peptide sequence: 
SSSVPTVKLFIGGKFVESKSDKWIDIHNPATNEVIGRVPQATKAEMDAAIASCKRAFPAWADTSVLSRQQVLLRYQQLIKENLKEIAKLITLEQGKTLAD
AEGDVFRGLQVVEHACSVTSLMMGETMPSITKDMDLYSYRLPLGVCAGIAPFNFPAMIPLWMFPMAMVCGNTFLMKPSERVPGATMLLAKLLQDSGAPDG
TLNIIHGQHEAVNFICDHPDIKAISFVGSNKAGEYIFERGSRHGKRVQANMGAKNHGVVMPDANKENTLNQLVGAAFGAAGQRCMALSTAVLVGEAKKWL
PELVEHAKNLRVNAGDQPGADLGPLITPQAKERVCNLIDSGTKEGASILLDGRKIKVKGYENGNFVGPTIISNVKPNMTCYKEEIFGPVLVVLETETLDE
AIQIVNNNPYGNGTAIFTTNGATARKYAHLVDVGQVGVNVPIPVPLPMFSFTGSRSSFRGDTNFYGKQGIQFYTQLKTITSQWKEEDATLSSPAVVMPTM
GR

methylmalonate-semialdehyde dehydrogenase [acylating], mitochondrial isoform 2 precursor

Refseq ID:	NP_001265522
Protein GI:	515870065
UniProt ID:	Q02252
mRNA ID:	NM_001278593
Length:	522
RefSeq Status:

MAALLAAAAVRARILQVSSKVKSSPTWYSASSFSSSVPTVKLFIGGKFVESKSDKWIDIHNPATNEVIGRVPQATKAEMDAAIASCKRAFPAWADTSVLS
RQQKEIAKLITLEQGKTLADAEGDVFRGLQVVEHACSVTSLMMGETMPSITKDMDLYSYRLPLGVCAGIAPFNFPAMIPLWMFPMAMVCGNTFLMKPSER
VPGATMLLAKLLQDSGAPDGTLNIIHGQHEAVNFICDHPDIKAISFVGSNKAGEYIFERGSRHGKRVQANMGAKNHGVVMPDANKENTLNQLVGAAFGAA
GQRCMALSTAVLVGEAKKWLPELVEHAKNLRVNAGDQPGADLGPLITPQAKERVCNLIDSGTKEGASILLDGRKIKVKGYENGNFVGPTIISNVKPNMTC
YKEEIFGPVLVVLETETLDEAIQIVNNNPYGNGTAIFTTNGATARKYAHLVDVGQVGVNVPIPVPLPMFSFTGSRSSFRGDTNFYGKQGIQFYTQLKTIT
SQWKEEDATLSSPAVVMPTMGR

methylmalonate-semialdehyde dehydrogenase [acylating], mitochondrial isoform 3

Refseq ID:	NP_001265523
Protein GI:	515870067
UniProt ID:
mRNA ID:	NM_001278594
Length:	381
RefSeq Status:

`MMGETMPSITKDMDLYSYRLPLGVCAGIAPFNFPAMIPLWMFPMAMVCGNTFLMKPSERVPGATMLLAKLLQDSGAPDGTLNIIHGQHEAVNFICDHPDI KAISFVGSNKAGEYIFERGSRHGKRVQANMGAKNHGVVMPDANKENTLNQLVGAAFGAAGQRCMALSTAVLVGEAKKWLPELVEHAKNLRVNAGDQPGAD LGPLITPQAKERVCNLIDSGTKEGASILLDGRKIKVKGYENGNFVGPTIISNVKPNMTCYKEEIFGPVLVVLETETLDEAIQIVNNNPYGNGTAIFTTNG ATARKYAHLVDVGQVGVNVPIPVPLPMFSFTGSRSSFRGDTNFYGKQGIQFYTQLKTITSQWKEEDATLSSPAVVMPTMGR`