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ALDH4A1

ALDH Gene Record


Summary for ALDH4A1
Trivial Names & Synonyms
Database Accession ID's
Molecular Features
Polymorphisms
Substrates and Kinetic Values
Tissue Expression & Cellular Localization
Reference List

ALDH4A1

Summary for ALDH4A1:

ALDH4A1, a mitochondrial matrix homodimer (~61.7 kDa subunits), catalyzes the second step in the proline degradation pathway - the irreversible conversion of Δ1-pyrroline-5-carboxylate (P5C) derived either from proline or ornithine to glutamate. This reaction is a necessary step connecting the urea and tricarboxylic acid cycles.

Mutations in ALDH4A1 lead to type II hyperprolinemia, an autosomal recessive disorder characterized by accumulation of P5C and proline resulting in neurological manifestations including seizures and mental retardation (9700195) , (8621661) .

Recent studies have shown that ALDH4A1 is transcriptionally induced by p53 and potentially may have a protective role during cellular stress (14986171) .

The Rattus norvegicus homolog of ALDH4A1 does not appear to be characterized in NCBI, UniProt and Ensembl databases.

 
 

Trivial Names and Synonyms for ALDH4A1:

ALDH4,    Delta-1-pyrroline-5-carboxylate dehydrogenase, mitochondrial pre,    P5CD,    P5CDh,    P5CDhL,    P5CDhS
 
 

Database Accession ID's for ALDH4A1:

Species Gene-related Accession ID's Transcript-related Accession ID's Protein-related Accession ID's
Homo sapiens
(Human)
Institute Database Accession No.
NCBICCDS188.1
NCBIEntrez Gene8659
NCBIGenBankNC_000001
NCBIOMIM239510, 606811
NCBIUniGene77448
HUGOHGNC406
EBI, WTSIEnsembl - GeneViewENSG00000159423
Institute Database Accession No.
NCBIGenBankNM_170726, NM_003748
EBI, WTSIEnsembl - TransViewENST00000375334, ENST00000375341, ENST00000290597, ENST00000375335
Institute Database Accession No.
NCBIAceViewALDH4A1.bApr07, ALDH4A1.hApr07, ALDH4A1.aApr07, ALDH4A1.eApr07
NCBIEntrez ProteinNP_733844, NP_003739
NCBIGenBankFJ462711
EBI, WTSIEnsembl - ProtViewENSP00000336944, ENSP00000364484, ENSP00000290597, ENSP00000364483, ENSP00000364490
EBI, SIB, PIRUniProtQ53HU4, Q5TF55, P30038, Q5JNV6
 
Species Gene-related Accession ID's Transcript-related Accession ID's Protein-related Accession ID's
Mus musculus
(House mouse)
Institute Database Accession No.
NCBIEntrez Gene212647
NCBIGenBankNC_000070
NCBIUniGene273571
JLMGI2443883
EBI, WTSIEnsembl - GeneViewENSMUSG00000028737
Institute Database Accession No.
NCBIGenBankNM_175438
EBI, WTSIEnsembl - TransViewENSMUST00000039818
Institute Database Accession No.
NCBIEntrez ProteinNP_780647
EBI, WTSIEnsembl - ProtViewENSMUSP00000077439
EBI, WTSIEnsembl - TransViewENSMUSP00000043821
EBI, SIB, PIRUniProtQ8CHT0
 
 
 

Molecular Features for ALDH4A1:

Species  
Homo sapiens
(Human)
Chromosome Locus : 1 p 36 (- strand)
 

 
ALDH4A1_v1     (Alternative Splice Variant 1) Number of Exons for ALDH4A1_v1 :   15 Click Here for Homo sapiens Transcript Sequences for Alternative Splice Variant 1
Click Here for Homo sapiens Peptide Sequences for Alternative Splice Variant 1
Transcript Length
(b.p.'s)
Peptide Translation Length
(a.a.'s)
M.W.
(Da)
Isoelectric Point Comments
ENST00000375341 3160 ENSP00000364490 563 61720 8.25 Click Here for Graphical and Tabular Details

NM_003748 3160 NP_003739 563 61720 8.25 Click Here for Graphical and Tabular Details

SNP's : 5 single nucleotide polymorphism(s) identified

ALDH4A1.bApr07 3168 ALDH4A1.bApr07 563 61720 8.25 Click Here for Graphical and Tabular Details

 
 
ALDH4A1_v2     (Alternative Splice Variant 2) Number of Exons for ALDH4A1_v2 :   16 Click Here for Homo sapiens Transcript Sequences for Alternative Splice Variant 2
Click Here for Homo sapiens Peptide Sequences for Alternative Splice Variant 2
Transcript Length
(b.p.'s)
Peptide Translation Length
(a.a.'s)
M.W.
(Da)
Isoelectric Point Comments
ENST00000290597 2147 ENSP00000290597 563 61720 8.25 Click Here for Graphical and Tabular Details

NM_170726 2147 NP_733844 563 61720 8.25 Click Here for Graphical and Tabular Details

SNP's : 5 single nucleotide polymorphism(s) identified

ALDH4A1.aApr07 2146 ALDH4A1.aApr07 563 61720 8.25 Click Here for Graphical and Tabular Details

 
 
ALDH4A1_v3     (Alternative Splice Variant 3) Number of Exons for ALDH4A1_v3 :   14 Click Here for Homo sapiens Transcript Sequences for Alternative Splice Variant 3
Click Here for Homo sapiens Peptide Sequences for Alternative Splice Variant 3
Transcript Length
(b.p.'s)
Peptide Translation Length
(a.a.'s)
M.W.
(Da)
Isoelectric Point Comments
ENST00000375335 3074 ENSP00000364484 547 59876 7.83 Click Here for Graphical and Tabular Details

 
 
ALDH4A1_v4     (Alternative Splice Variant 4) Number of Exons for ALDH4A1_v4 :   8 Click Here for Homo sapiens Transcript Sequences for Alternative Splice Variant 4
Click Here for Homo sapiens Peptide Sequences for Alternative Splice Variant 4
Transcript Length
(b.p.'s)
Peptide Translation Length
(a.a.'s)
M.W.
(Da)
Isoelectric Point Comments
ENST00000375334 785 ENSP00000364483 255 27829 6.78 Click Here for Graphical and Tabular Details

Transcript : There is a longer reading frame for this transcript sequence. Ensembl reports this 195 a.a. product with translation beginning in Exon 3. However, within the same reading frame, translation occurs resulting in a 255 a.a. peptide product and begins in Exon 1 - ATG beginning position 18. Further review of the source for this transcript is required.

 
 
ALDH4A1_v5     (Alternative Splice Variant 5) Number of Exons for ALDH4A1_v5 :   9 Click Here for Homo sapiens Transcript Sequences for Alternative Splice Variant 5
Click Here for Homo sapiens Peptide Sequences for Alternative Splice Variant 5
Transcript Length
(b.p.'s)
Peptide Translation Length
(a.a.'s)
M.W.
(Da)
Isoelectric Point Comments
ALDH4A1.eApr07 839 ALDH4A1.eApr07 195 21228 6.31 Click Here for Graphical and Tabular Details

 
 
ALDH4A1_v6     (Alternative Splice Variant 6) Number of Exons for ALDH4A1_v6 :   14 Click Here for Homo sapiens Transcript Sequences for Alternative Splice Variant 6
Click Here for Homo sapiens Peptide Sequences for Alternative Splice Variant 6
Transcript Length
(b.p.'s)
Peptide Translation Length
(a.a.'s)
M.W.
(Da)
Isoelectric Point Comments
FJ462711 2966 FJ462711 512 56043 Click Here for Graphical and Tabular Details

Transcript : The first 9 bases of the transcript sequence are likely a part of the vector sequence as 6 of the 9 bases do not align to the genomic sequence.

SNP's : 9 single nucleotide polymorphism(s) identified

 
 
ALDH4A1_v10     (Alternative Splice Variant 10) Number of Exons for ALDH4A1_v10 :   2 Click Here for Homo sapiens Transcript Sequences for Alternative Splice Variant 10
Click Here for Homo sapiens Peptide Sequences for Alternative Splice Variant 10
Transcript Length
(b.p.'s)
Peptide Translation Length
(a.a.'s)
M.W.
(Da)
Isoelectric Point Comments
ALDH4A1.hApr07 2475 ALDH4A1.hApr07 69 7119 9.21 Click Here for Graphical and Tabular Details

 
Species  
Mus musculus
(House mouse)
Chromosome Locus : 4 66.1 cM (+ strand)
 

 
ALDH4A1_v1     (Alternative Splice Variant 1) Number of Exons for ALDH4A1_v1 :   15 Click Here for Mus musculus Transcript Sequences for Alternative Splice Variant 1
Click Here for Mus musculus Peptide Sequences for Alternative Splice Variant 1
Transcript Length
(b.p.'s)
Peptide Translation Length
(a.a.'s)
M.W.
(Da)
Isoelectric Point Comments
ENSMUST00000039818 3138 ENSMUSP00000043821 562 61841 8.37 Click Here for Graphical and Tabular Details

 
 
ALDH4A1_v?     (Alternative Splice Variant Unknown or To Be Determined) Number of Exons : N/A Click Here for Mus musculus Transcript Sequences for Unknown Variants
Click Here for Mus musculus Peptide Sequences for Unknown Variants
Transcript Length
(b.p.'s)
Peptide Translation Length
(a.a.'s)
M.W.
(Da)
Isoelectric Point Comments
NM_175438 3281 NP_780647 562 61811 Click Here for Graphical and Tabular Details

Transcript : The transcript sequence does not align to the genomic DNA and appears to have numerous SNPs, insertions and deletions.

Peptide : The transcript for this sequence had very poor alignment to the genomic DNA due to numerous SNPs, Insertions and Deletions. Further analysis is required.

 
 
 

Polymorphisms for ALDH4A1:

Currently Under Development
 
 

Substrates, Inhibitors and Enzyme Kinetics for ALDH4A1:

 
 

Tissue Expression & Cellular Localization for ALDH4A1:

Currently Under Development
 
 

Reference List for ALDH4A1:

ALDH4A1 Year Authors Title Journal Pubmed ID
2004 Yoon, Nakamura, Arakawa
Identification of ALDH4 as a p53-inducible gene and its protective role in cellular stresses. J Hum Genet 14986171
 
1998 Geraghty, Vaughn, Nicholson, Lin, Jimenez-Sanchez, Obie, Flynn, Valle, Hu
Mutations in the Delta1-pyrroline 5-carboxylate dehydrogenase gene cause type II hyperprolinemia. Hum Mol Genet 9700195
 
1996 Hu, Lin, Valle
Cloning, characterization, and expression of cDNAs encoding human delta 1-pyrroline-5-carboxylate dehydrogenase. J Biol Chem 8621661
 
 
 

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