ALDH4A1 aldehyde dehydrogenase 4 family, member A1 [Homo sapiens (human)] - Gene

Summary

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Official Symbol: ALDH4A1provided by HGNC
Official Full Name: aldehyde dehydrogenase 4 family, member A1provided by HGNC
Primary source: HGNC:406
Locus tag: RP11-128M10.1
See related: Ensembl:ENSG00000159423; HPRD:06009; MIM:606811; Vega:OTTHUMG00000002443
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: P5CD; ALDH4; P5CDh
Summary: This protein belongs to the aldehyde dehydrogenase family of proteins. This enzyme is a mitochondrial matrix NAD-dependent dehydrogenase which catalyzes the second step of the proline degradation pathway, converting pyrroline-5-carboxylate to glutamate. Deficiency of this enzyme is associated with type II hyperprolinemia, an autosomal recessive disorder characterized by accumulation of delta-1-pyrroline-5-carboxylate (P5C) and proline. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jun 2009]

Genomic context

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Location :: 1p36

Sequence :: Chromosome: 1; NC_000001.10 (19197924..19229293, complement)

See ALDH4A1 in Epigenomics, MapViewer

Chromosome 1 - NC_000001.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

Bibliography

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GeneRIFs: Gene References Into Functions What's a GeneRIF?

the impact of the hyperprolinemia-associated mutation of Ser352 to Leu on the structure and catalytic properties of the P5CDH
Title: The three-dimensional structural basis of type II hyperprolinemia.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
ALDH4 is a p53-inducible gene with a protective role in cellular stresses
Title: Identification of ALDH4 as a p53-inducible gene and its protective role in cellular stresses.
ALDH4 is transcriptionally induced by p53.
Title: Identification of ALDH4 as a p53-inducible gene and its protective role in cellular stresses.

Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Deficiency of pyrroline-5-carboxylate reductase

MIM: 239510

Genetic Testing Registry

Interactions

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Products	Interactant	Other Gene	Source	Pubs	Description
NP_733844.1	AAF97920.1		BIND	PubMed	Tax interacts with P5CD.
BioGRID:114208	BioGRID:106848	APP	BioGRID	PubMed	Reconstituted Complex
BioGRID:114208	BioGRID:106878	ARG1	BioGRID	PubMed	Two-hybrid
BioGRID:114208	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-MS

Pathways from BioSystems

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4-hydroxyproline degradation I, organism-specific biosystem (from BIOCYC)
4-hydroxyproline degradation I, organism-specific biosystem4-Hydroxyproline residues contribute to the stability of the collagen triple helix. Collagen is a major constituent of human protein. Other proteins containing 4-hydroxyproline include elastin, th...
Alanine, aspartate and glutamate metabolism, organism-specific biosystem (from KEGG)
Alanine, aspartate and glutamate metabolism, organism-specific biosystem
Alanine, aspartate and glutamate metabolism
Alanine, aspartate and glutamate metabolism, conserved biosystem (from KEGG)
Alanine, aspartate and glutamate metabolism, conserved biosystem
Alanine, aspartate and glutamate metabolism
Arginine and proline metabolism, organism-specific biosystem (from KEGG)
Arginine and proline metabolism, organism-specific biosystem
Arginine and proline metabolism
Arginine and proline metabolism, conserved biosystem (from KEGG)
Arginine and proline metabolism, conserved biosystem
Arginine and proline metabolism
Metabolism, organism-specific biosystem (from REACTOME)
Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
Metabolism of amino acids and derivatives, organism-specific biosystem (from REACTOME)
Metabolism of amino acids and derivatives, organism-specific biosystemThis group of reactions is responsible for: 1) the breakdown of amino acids; 2) the synthesis of urea from ammonia and amino groups generated by amino acid breakdown; 3) the synthesis of the ten amin...
Proline catabolism, organism-specific biosystem (from REACTOME)
Proline catabolism, organism-specific biosystemProline is catabolized in two steps to yield L-glutamate gamma-semialdehyde, which can react further with glutamate to yield ornithine and alpha-ketoglutarate (annotated as a reaction of amino acid s...
arginine degradation I (arginase pathway), organism-specific biosystem (from BIOCYC)
arginine degradation I (arginase pathway), organism-specific biosystemGeneral Background Arginase-mediated : ARG degradation is initiated by the enzyme arginase, catalyzing the hydrolysis of :ARG to form :L-ORNITHINE and :UREA. Variations of the : ARG-degradation pat...
arginine degradation I (arginase pathway), conserved biosystem (from BIOCYC)
arginine degradation I (arginase pathway), conserved biosystemGeneral Background Arginase-mediated |FRAME: ARG| degradation is widely distributed in the biosphere, and is found in all primary kingdoms |CITS: [8759304]|. The first step in this process, catalyz...
proline degradation, organism-specific biosystem (from BIOCYC)
proline degradation, organism-specific biosystem: PRO can be catabolized to : GLT by the action of two enzymatic activities: proline dehydrogenase (PDH) (sometimes referred to as proline oxidase) and Δ-pyrroline-5-carboxylate dehydrogenase (...
proline degradation, conserved biosystem (from BIOCYC)
proline degradation, conserved biosystem|FRAME: PRO| can be catabolized to |FRAME: GLT| by the action of two enzymatic activities: proline dehydrogenase (PDH) (sometimes referred to as proline oxidase) and Δ-pyrroline-5-carboxylate d...

General gene information

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Markers

SHGC-74312 (e-PCR)
- UniSTS:54787

SHGC-149828 (e-PCR)
- UniSTS:177246

D1S3604 (e-PCR)
- UniSTS:16287

RH80741 (e-PCR)
- UniSTS:91624

SHGC-74303 (e-PCR)
- UniSTS:62696

ALDH4A1_1756 (e-PCR)
- UniSTS:276990

Genotypes

See ALDH4A1 SNP Geneview Report
See ALDH4A1 SNP Genotype Report
See ALDH4A1 SNP Variation Viewer Report

Homology

Homologs of the ALDH4A1 gene: The ALDH4A1 gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, zebrafish, fruit fly, mosquito, C.elegans, S.cerevisiae, K.lactis, E.gossypii, S.pombe, M.oryzae, and N.crassa.
Map Viewer (Mouse, Rat)
OrthoDB: The Hierarchical Catalog of Eukaryotic Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
1-pyrroline-5-carboxylate dehydrogenase activity	EXP Inferred from Experiment more info
aldehyde dehydrogenase (NAD) activity	TAS Traceable Author Statement more info	PubMed
electron carrier activity	TAS Traceable Author Statement more info	PubMed
identical protein binding	IPI Inferred from Physical Interaction more info

Process	Evidence Code	Pubs
4-hydroxyproline catabolic process	TAS Traceable Author Statement more info
cellular nitrogen compound metabolic process	TAS Traceable Author Statement more info
proline biosynthetic process	IEA Inferred from Electronic Annotation more info
proline catabolic process	TAS Traceable Author Statement more info
proline catabolic process to glutamate	IEA Inferred from Electronic Annotation more info
proline metabolic process	TAS Traceable Author Statement more info	PubMed
small molecule metabolic process	TAS Traceable Author Statement more info

Component	Evidence Code	Pubs
mitochondrial matrix	TAS Traceable Author Statement more info

General protein information

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Preferred Names: delta-1-pyrroline-5-carboxylate dehydrogenase, mitochondrial

Names: delta-1-pyrroline-5-carboxylate dehydrogenase, mitochondrial; P5C dehydrogenase; aldehyde dehydrogenase family 4 member A1; mitochondrial delta-1-pyrroline 5-carboxylate dehydrogenase

NP_001154976.1

EC 1.5.1.12

NP_003739.2

EC 1.5.1.12

NP_733844.1

EC 1.5.1.12

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_012283.1 RefSeqGene

Range

5001..36370

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001161504.1 → NP_001154976.1 delta-1-pyrroline-5-carboxylate dehydrogenase, mitochondrial isoform b

Status: REVIEWED

Description

Transcript Variant: This variant (3) has an alternate 5' exon, compared to variant P5CDhL, resulting in a downstream AUG start codon. The resulting isoform (b) has a shorter N-terminus, compared to isoform a.

Source sequence(s)

AK294552, BC023600

Consensus CDS

CCDS53272.1

UniProtKB/Swiss-Prot

P30038

Related

ENSP00000442988, ENST00000538309

Conserved Domains (2) summary

TIGR01236
Location:1 – 503
Blast Score: 2357

D1pyr5carbox1; delta-1-pyrroline-5-carboxylate dehydrogenase, group 1

cd07123
Location:2 – 493
Blast Score: 2506

ALDH_F4-17_P5CDH; Delta(1)-pyrroline-5-carboxylate dehydrogenase, ALDH families 4 and 17
NM_003748.3 → NP_003739.2 delta-1-pyrroline-5-carboxylate dehydrogenase, mitochondrial isoform a precursor

Status: REVIEWED

Description

Transcript Variant: This variant (P5CDhL) represents the longest transcript. Both variants P5CDhL and P5CDhS encode the same protein (isoform a).

Source sequence(s)

BC023600, DC318624

Consensus CDS

CCDS188.1

UniProtKB/Swiss-Prot

P30038

Related

ENSP00000364490, OTTHUMP00000002544, ENST00000375341, OTTHUMT00000006954

Conserved Domains (2) summary

TIGR01236
Location:33 – 563
Blast Score: 2475

D1pyr5carbox1; delta-1-pyrroline-5-carboxylate dehydrogenase, group 1

cd07123
Location:32 – 553
Blast Score: 2620

ALDH_F4-17_P5CDH; Delta(1)-pyrroline-5-carboxylate dehydrogenase, ALDH families 4 and 17
NM_170726.2 → NP_733844.1 delta-1-pyrroline-5-carboxylate dehydrogenase, mitochondrial isoform a precursor

Status: REVIEWED

Description

Transcript Variant: This variant (P5CDhS) differs in the 3' UTR compared to variant P5CDhL. Both variants P5CDhL and P5CDhS encode the same protein (isoform a).

Source sequence(s)

BC023600, DC318624

Consensus CDS

CCDS188.1

UniProtKB/Swiss-Prot

P30038

Related

ENSP00000290597, OTTHUMP00000002545, ENST00000290597, OTTHUMT00000006955

Conserved Domains (2) summary

TIGR01236
Location:33 – 563
Blast Score: 2475

D1pyr5carbox1; delta-1-pyrroline-5-carboxylate dehydrogenase, group 1

cd07123
Location:32 – 553
Blast Score: 2620

ALDH_F4-17_P5CDH; Delta(1)-pyrroline-5-carboxylate dehydrogenase, ALDH families 4 and 17

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 104

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p10 Primary Assembly

Genomic

NC_000001.10 Reference GRCh37.p10 Primary Assembly

Range

19197924..19229293, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000133.1 Alternate HuRef

Range

17442100..17473468, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.0

Genomic

NC_018912.1 Alternate CHM1_1.0

Range

19407785..19439171, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	ABBA01059748.1	None
genomic	ABBA01059749.1	None
genomic	AL080251.23 (2000..18620)	None
genomic	AL954340.4 (2000..15921)	None
genomic	AMYH01000310.1 (219557..250943)	None
genomic	BX537160.6 (16781..17606)	None
genomic	CH471134.1	EAW94858.1
		EAW94859.1
		EAW94860.1
mRNA	AK222486.1	BAD96206.1
mRNA	AK289972.1	BAF82661.1
mRNA	AK294552.1	BAG57755.1
mRNA	BC007581.1	AAH07581.1
mRNA	BC023600.2	AAH23600.1
mRNA	BM856369.1	None
mRNA	BX649081.1	None
mRNA	DC318624.1	None
mRNA	FJ462711.1	ACN89883.1
mRNA	U24266.1	AAC50500.1
mRNA	U24267.1	AAC50501.1
other-genetic	DQ893505.2	ABM84431.1
other-genetic	DQ896489.2	ABM87488.1