MGP Database

MGP003428

Record overview

MGPD ID	MGP003428
Gene ID	7915
Species	Homo sapiens (Human)
Gene Name	aldehyde dehydrogenase 5 family, member A1
Gene Symbol	ALDH5A1
Synonyms	SSDH; SSADH;
Alternate names	succinate-semialdehyde dehydrogenase, mitochondrial; NAD(+)-dependent succinic semialdehyde dehydrogenase; aldehyde dehydrogenase 5 family member A1; mitochondrial succinate semialdehyde dehydrogenase;
Chromosome	6
Map Location	6p22
EC Number	1.2.1.24
Summary	This protein belongs to the aldehyde dehydrogenase family of proteins. This gene encodes a mitochondrial NAD(+)-dependent succinic semialdehyde dehydrogenase. A deficiency of this enzyme, known as 4-hydroxybutyricaciduria, is a rare inborn error in the metabolism of the neurotransmitter 4-aminobutyric acid (GABA). In response to the defect, physiologic fluids from patients accumulate GHB, a compound with numerous neuromodulatory properties. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
Orthologs	View orthologs and multiple alignments for ALDH5A1

Proteins

succinate-semialdehyde dehydrogenase, mitochondrial isoform 1 precursor

Refseq ID:	NP_733936
Protein GI:	25777721
UniProt ID:	P51649
mRNA ID:	NM_170740
Length:	548
RefSeq Status:

MATCIWLRSCGARRLGSTFPGCRLRPRAGGLVPASGPAPGPAQLRCYAGRLAGLSAALLRTDSFVGGRWLPAAATFPVQDPASGAALGMVADCGVREARA
AVRAAYEAFCRWREVSAKERSSLLRKWYNLMIQNKDDLARIITAESGKPLKEAHGEILYSAFFLEWFSEEARRVYGDIIHTPAKDRRALVLKQPIGVAAV
ITPWNFPSAMITRKVGAALAAGCTVVVKPAEDTPFSALALAEVNQGFLLDLDPLLLASQAGIPSGVYNVIPCSRKNAKEVGEAICTDPLVSKISFTGSTT
TGKILLHHAANSVKRVSMELGGLAPFIVFDSANVDQAVAGAMASKFRNTGQTCVCSNQFLVQRGIHDAFVKAFAEAMKKNLRVGNGFEEGTTQGPLINEK
AVEKVEKQVNDAVSKGATVVTGGKRHQLGKNFFEPTLLCNVTQDMLCTHEETFGPLAPVIKFDTEEEAIAIANAADVGLAGYFYSQDPAQIWRVAEQLEV
GMVGVNEGLISSVECPFGGVKQSGLGREGSKYGIDEYLELKYVCYGGL

transit_peptide: 1..47
calculated_mol_wt: 4930
peptide sequence: 
MATCIWLRSCGARRLGSTFPGCRLRPRAGGLVPASGPAPGPAQLRCY

mat_peptide: 48..548
product: succinate-semialdehyde dehydrogenase, mitochondrial isoform 1
calculated_mol_wt: 53742
peptide sequence: 
AGRLAGLSAALLRTDSFVGGRWLPAAATFPVQDPASGAALGMVADCGVREARAAVRAAYEAFCRWREVSAKERSSLLRKWYNLMIQNKDDLARIITAESG
KPLKEAHGEILYSAFFLEWFSEEARRVYGDIIHTPAKDRRALVLKQPIGVAAVITPWNFPSAMITRKVGAALAAGCTVVVKPAEDTPFSALALAEVNQGF
LLDLDPLLLASQAGIPSGVYNVIPCSRKNAKEVGEAICTDPLVSKISFTGSTTTGKILLHHAANSVKRVSMELGGLAPFIVFDSANVDQAVAGAMASKFR
NTGQTCVCSNQFLVQRGIHDAFVKAFAEAMKKNLRVGNGFEEGTTQGPLINEKAVEKVEKQVNDAVSKGATVVTGGKRHQLGKNFFEPTLLCNVTQDMLC
THEETFGPLAPVIKFDTEEEAIAIANAADVGLAGYFYSQDPAQIWRVAEQLEVGMVGVNEGLISSVECPFGGVKQSGLGREGSKYGIDEYLELKYVCYGG
L

succinate-semialdehyde dehydrogenase, mitochondrial isoform 2 precursor

Refseq ID:	NP_001071
Protein GI:	4507229
UniProt ID:	P51649
mRNA ID:	NM_001080
Length:	535
RefSeq Status:

MATCIWLRSCGARRLGSTFPGCRLRPRAGGLVPASGPAPGPAQLRCYAGRLAGLSAALLRTDSFVGGRWLPAAATFPVQDPASGAALGMVADCGVREARA
AVRAAYEAFCRWREVSAKERSSLLRKWYNLMIQNKDDLARIITAESGKPLKEAHGEILYSAFFLEWFSEEARRVYGDIIHTPAKDRRALVLKQPIGVAAV
ITPWNFPSAMITRKVGAALAAGCTVVVKPAEDTPFSALALAELASQAGIPSGVYNVIPCSRKNAKEVGEAICTDPLVSKISFTGSTTTGKILLHHAANSV
KRVSMELGGLAPFIVFDSANVDQAVAGAMASKFRNTGQTCVCSNQFLVQRGIHDAFVKAFAEAMKKNLRVGNGFEEGTTQGPLINEKAVEKVEKQVNDAV
SKGATVVTGGKRHQLGKNFFEPTLLCNVTQDMLCTHEETFGPLAPVIKFDTEEEAIAIANAADVGLAGYFYSQDPAQIWRVAEQLEVGMVGVNEGLISSV
ECPFGGVKQSGLGREGSKYGIDEYLELKYVCYGGL

transit_peptide: 1..47
calculated_mol_wt: 4930
peptide sequence: 
MATCIWLRSCGARRLGSTFPGCRLRPRAGGLVPASGPAPGPAQLRCY

mat_peptide: 48..548
product: succinate-semialdehyde dehydrogenase, mitochondrial isoform 1
calculated_mol_wt: 53742
peptide sequence: 
AGRLAGLSAALLRTDSFVGGRWLPAAATFPVQDPASGAALGMVADCGVREARAAVRAAYEAFCRWREVSAKERSSLLRKWYNLMIQNKDDLARIITAESG
KPLKEAHGEILYSAFFLEWFSEEARRVYGDIIHTPAKDRRALVLKQPIGVAAVITPWNFPSAMITRKVGAALAAGCTVVVKPAEDTPFSALALAEVNQGF
LLDLDPLLLASQAGIPSGVYNVIPCSRKNAKEVGEAICTDPLVSKISFTGSTTTGKILLHHAANSVKRVSMELGGLAPFIVFDSANVDQAVAGAMASKFR
NTGQTCVCSNQFLVQRGIHDAFVKAFAEAMKKNLRVGNGFEEGTTQGPLINEKAVEKVEKQVNDAVSKGATVVTGGKRHQLGKNFFEPTLLCNVTQDMLC
THEETFGPLAPVIKFDTEEEAIAIANAADVGLAGYFYSQDPAQIWRVAEQLEVGMVGVNEGLISSVECPFGGVKQSGLGREGSKYGIDEYLELKYVCYGG
L

transit_peptide: 1..47
calculated_mol_wt: 4930
peptide sequence: 
MATCIWLRSCGARRLGSTFPGCRLRPRAGGLVPASGPAPGPAQLRCY

mat_peptide: 48..535
product: succinate-semialdehyde dehydrogenase, mitochondrial isoform 2
calculated_mol_wt: 52303
peptide sequence: 
AGRLAGLSAALLRTDSFVGGRWLPAAATFPVQDPASGAALGMVADCGVREARAAVRAAYEAFCRWREVSAKERSSLLRKWYNLMIQNKDDLARIITAESG
KPLKEAHGEILYSAFFLEWFSEEARRVYGDIIHTPAKDRRALVLKQPIGVAAVITPWNFPSAMITRKVGAALAAGCTVVVKPAEDTPFSALALAELASQA
GIPSGVYNVIPCSRKNAKEVGEAICTDPLVSKISFTGSTTTGKILLHHAANSVKRVSMELGGLAPFIVFDSANVDQAVAGAMASKFRNTGQTCVCSNQFL
VQRGIHDAFVKAFAEAMKKNLRVGNGFEEGTTQGPLINEKAVEKVEKQVNDAVSKGATVVTGGKRHQLGKNFFEPTLLCNVTQDMLCTHEETFGPLAPVI
KFDTEEEAIAIANAADVGLAGYFYSQDPAQIWRVAEQLEVGMVGVNEGLISSVECPFGGVKQSGLGREGSKYGIDEYLELKYVCYGGL