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Aliases for ALDH4A1 Gene

Aliases for ALDH4A1 Gene

  • Aldehyde Dehydrogenase 4 Family, Member A1 2 3
  • ALDH4 3 4 6
  • P5CDh 3 4 6
  • L-Glutamate Gamma-Semialdehyde Dehydrogenase 3 4
  • Aldehyde Dehydrogenase Family 4 Member A1 3 4
  • P5C Dehydrogenase 3 4
  • Delta-1-Pyrroline-5-Carboxylate Dehydrogenase, Mitochondrial 3
  • Mitochondrial Delta-1-Pyrroline 5-Carboxylate Dehydrogenase 3
  • EC 1.5.1.12 63
  • EC 1.2.1.88 4
  • P5CD 3

External Ids for ALDH4A1 Gene

Previous HGNC Symbols for ALDH4A1 Gene

  • ALDH4

Previous GeneCards Identifiers for ALDH4A1 Gene

  • GC01U990216
  • GC01M018343
  • GC01M018667
  • GC01M018943
  • GC01M019070
  • GC01M019181
  • GC01M017442
  • GC01M019197

Summaries for ALDH4A1 Gene

Entrez Gene Summary for ALDH4A1 Gene

  • 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]

GeneCards Summary for ALDH4A1 Gene

ALDH4A1 (Aldehyde Dehydrogenase 4 Family, Member A1) is a Protein Coding gene. Diseases associated with ALDH4A1 include hyperprolinemia, type ii and hyperprolinemia. Among its related pathways are Metabolism and Arginine and proline metabolism. GO annotations related to this gene include identical protein binding and aldehyde dehydrogenase (NAD) activity.

UniProtKB/Swiss-Prot for ALDH4A1 Gene

  • Irreversible conversion of delta-1-pyrroline-5-carboxylate (P5C), derived either from proline or ornithine, to glutamate. This is a necessary step in the pathway interconnecting the urea and tricarboxylic acid cycles. The preferred substrate is glutamic gamma-semialdehyde, other substrates include succinic, glutaric and adipic semialdehydes.

Gene Wiki entry for ALDH4A1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ALDH4A1 Gene

Genomics for ALDH4A1 Gene

Regulatory Elements for ALDH4A1 Gene

Genomic Location for ALDH4A1 Gene

Start:
18,871,430 bp from pter
End:
18,902,799 bp from pter
Size:
31,370 bases
Orientation:
Minus strand

Genomic View for ALDH4A1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ALDH4A1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ALDH4A1 Gene

Proteins for ALDH4A1 Gene

  • Protein details for ALDH4A1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P30038-AL4A1_HUMAN
    Recommended name:
    Delta-1-pyrroline-5-carboxylate dehydrogenase, mitochondrial
    Protein Accession:
    P30038
    Secondary Accessions:
    • A8K1Q7
    • B4DGE4
    • D2D4A3
    • Q16882
    • Q53HU4
    • Q5JNV6
    • Q8IZ38
    • Q96IF0
    • Q9UDI6

    Protein attributes for ALDH4A1 Gene

    Size:
    563 amino acids
    Molecular mass:
    61719 Da
    Quaternary structure:
    • Homodimer.

    Three dimensional structures from OCA and Proteopedia for ALDH4A1 Gene

    Alternative splice isoforms for ALDH4A1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ALDH4A1 Gene

Proteomics data for ALDH4A1 Gene at MOPED

Post-translational modifications for ALDH4A1 Gene

  • Ubiquitination at Lys495
  • Modification sites at PhosphoSitePlus

Other Protein References for ALDH4A1 Gene

Domains for ALDH4A1 Gene

Gene Families for ALDH4A1 Gene

HGNC:
  • ALDH :Aldehyde dehydrogenases

Graphical View of Domain Structure for InterPro Entry

P30038

UniProtKB/Swiss-Prot:

AL4A1_HUMAN :
  • P30038
Family:
  • Belongs to the aldehyde dehydrogenase family.
genes like me logo Genes that share domains with ALDH4A1: view

Function for ALDH4A1 Gene

Molecular function for ALDH4A1 Gene

UniProtKB/Swiss-Prot BiophysicochemicalProperties: Kinetic parameters: KM=100 uM for NAD {ECO:0000269 PubMed:22516612}; KM=32 uM for L-pyrroline-5-carboxylate {ECO:0000269 PubMed:22516612};
UniProtKB/Swiss-Prot CatalyticActivity: L-glutamate 5-semialdehyde + NAD(+) + H(2)O = L-glutamate + NADH.
UniProtKB/Swiss-Prot Function: Irreversible conversion of delta-1-pyrroline-5-carboxylate (P5C), derived either from proline or ornithine, to glutamate. This is a necessary step in the pathway interconnecting the urea and tricarboxylic acid cycles. The preferred substrate is glutamic gamma-semialdehyde, other substrates include succinic, glutaric and adipic semialdehydes.

Enzyme Numbers (IUBMB) for ALDH4A1 Gene

Gene Ontology (GO) - Molecular Function for ALDH4A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003842 1-pyrroline-5-carboxylate dehydrogenase activity EXP --
GO:0004029 aldehyde dehydrogenase (NAD) activity IDA 4015840
GO:0009055 electron carrier activity TAS 8621661
GO:0016491 oxidoreductase activity --
GO:0042802 identical protein binding IPI 22516612
genes like me logo Genes that share ontologies with ALDH4A1: view
genes like me logo Genes that share phenotypes with ALDH4A1: view

miRNA for ALDH4A1 Gene

miRTarBase miRNAs that target ALDH4A1

No data available for Animal Models , Transcription Factor Targeting and HOMER Transcription for ALDH4A1 Gene

Localization for ALDH4A1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ALDH4A1 Gene

Mitochondrion matrix.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ALDH4A1 Gene COMPARTMENTS Subcellular localization image for ALDH4A1 gene
Compartment Confidence
mitochondrion 5
cytosol 2

Gene Ontology (GO) - Cellular Components for ALDH4A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion --
GO:0005759 mitochondrial matrix TAS --
genes like me logo Genes that share ontologies with ALDH4A1: view

Pathways for ALDH4A1 Gene

genes like me logo Genes that share pathways with ALDH4A1: view

UniProtKB/Swiss-Prot P30038-AL4A1_HUMAN

  • Pathway: Amino-acid degradation; L-proline degradation into L-glutamate; L-glutamate from L-proline: step 2/2.

Gene Ontology (GO) - Biological Process for ALDH4A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006537 glutamate biosynthetic process IEA --
GO:0006560 proline metabolic process TAS 8621661
GO:0006561 proline biosynthetic process IEA --
GO:0006562 proline catabolic process TAS --
GO:0008152 metabolic process --
genes like me logo Genes that share ontologies with ALDH4A1: view

Compounds for ALDH4A1 Gene

(12) HMDB Compounds for ALDH4A1 Gene

Compound Synonyms Cas Number PubMed IDs
1-Pyrroline-5-carboxylic acid
  • (S)-1-pyrroline-5-carboxylate
2906-39-0
4-Hydroxy-L-glutamic acid
  • 4-hydroxy-L-glutamate
2485-33-8
Famotidine
  • Amfamox
76824-35-6
L-4-Hydroxyglutamate semialdehyde
Not Available
L-Glutamic acid
  • (2S)-2-Aminopentanedioate
56-86-0

(1) Drugbank Compounds for ALDH4A1 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
NADH
  • beta-DPNH
606-68-8 target

(4) Novoseek inferred chemical compound relationships for ALDH4A1 Gene

Compound -log(P) Hits PubMed IDs
delta(1)pyrroline-5-carboxylate 95.7 11
proline 72.3 8
glutamate 33.5 3
oxygen 0 1
genes like me logo Genes that share compounds with ALDH4A1: view

Transcripts for ALDH4A1 Gene

Unigene Clusters for ALDH4A1 Gene

Aldehyde dehydrogenase 4 family, member A1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for ALDH4A1 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12a · 12b ^ 13 ^ 14 ^ 15 ^ 16
SP1: -
SP2: -
SP3:

Relevant External Links for ALDH4A1 Gene

GeneLoc Exon Structure for
ALDH4A1
ECgene alternative splicing isoforms for
ALDH4A1

Expression for ALDH4A1 Gene

mRNA expression in normal human tissues for ALDH4A1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ALDH4A1 Gene

This gene is overexpressed in Liver (13.9) and Kidney - Cortex (8.9).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for ALDH4A1 Gene

SOURCE GeneReport for Unigene cluster for ALDH4A1 Gene Hs.77448

mRNA Expression by UniProt/SwissProt for ALDH4A1 Gene

P30038-AL4A1_HUMAN
Tissue specificity: Highest expression is found in liver followed by skeletal muscle, kidney, heart, brain, placenta, lung and pancreas
genes like me logo Genes that share expressions with ALDH4A1: view

Orthologs for ALDH4A1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for ALDH4A1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ALDH4A1 35
  • 99.35 (n)
  • 99.47 (a)
ALDH4A1 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ALDH4A1 35
  • 88.34 (n)
  • 88.99 (a)
ALDH4A1 36
  • 88 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ALDH4A1 35
  • 90.29 (n)
  • 93.25 (a)
TAS1R2 36
  • 34 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Aldh4a1 35
  • 86.71 (n)
  • 91.81 (a)
Aldh4a1 16
Aldh4a1 36
  • 92 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ALDH4A1 36
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ALDH4A1 36
  • 82 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Aldh4a1 35
  • 87.19 (n)
  • 91.28 (a)
chicken
(Gallus gallus)
Aves ALDH4A1 35
  • 78.38 (n)
  • 79.96 (a)
ALDH4A1 36
  • 79 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia aldh4a1 35
  • 72.28 (n)
  • 77.9 (a)
zebrafish
(Danio rerio)
Actinopterygii aldh4a1 35
  • 69.69 (n)
  • 74.95 (a)
aldh4a1 36
  • 70 (a)
OneToOne
zgc63592 35
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004366 35
  • 63.4 (n)
  • 60.45 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG6661 36
  • 16 (a)
OneToMany
P5CDh1 35
  • 64.4 (n)
  • 61.89 (a)
P5CDh1 36
  • 57 (a)
OneToMany
P5CDh2 36
  • 42 (a)
OneToMany
CG7145 37
  • 61 (a)
worm
(Caenorhabditis elegans)
Secernentea alh-6 35
  • 56.77 (n)
  • 54.5 (a)
alh-6 36
  • 53 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AAL071C 35
  • 55.39 (n)
  • 45.75 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PUT2 35
  • 46.03 (n)
  • 43.14 (a)
PUT2 36
  • 40 (a)
OneToOne
PUT2 38
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C10549g 35
  • 47.94 (n)
  • 45.14 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU03076 35
  • 53.32 (n)
  • 48.94 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPBC24C6.04 35
  • 52.67 (n)
  • 50.67 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.1289 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 63 (a)
OneToOne
Species with no ortholog for ALDH4A1:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ALDH4A1 Gene

ENSEMBL:
Gene Tree for ALDH4A1 (if available)
TreeFam:
Gene Tree for ALDH4A1 (if available)

Paralogs for ALDH4A1 Gene

No data available for Paralogs for ALDH4A1 Gene

Variants for ALDH4A1 Gene

Sequence variations from dbSNP and Humsavar for ALDH4A1 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type MAF
rs9117 -- 18,872,401(-) CAGAC(C/T)GACCT utr-variant-3-prime, intron-variant
rs11740 -- 18,872,727(-) AATCC(A/G)GGCTT utr-variant-3-prime, intron-variant
rs14311 -- 18,872,133(-) TAGGC(C/T)GTGAT utr-variant-3-prime, intron-variant
rs941495 -- 18,889,340(-) GGCAG(A/G)GCTCA intron-variant
rs1009971 -- 18,895,526(+) GTGGC(A/G)GGAGA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ALDH4A1 Gene

Variant ID Type Subtype PubMed ID
nsv870906 CNV Gain 21882294

Relevant External Links for ALDH4A1 Gene

HapMap Linkage Disequilibrium report
ALDH4A1
Human Gene Mutation Database (HGMD)
ALDH4A1
Locus Specific Mutation Databases (LSDB)
ALDH4A1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ALDH4A1 Gene

Disorders for ALDH4A1 Gene

(1) OMIM Diseases for ALDH4A1 Gene (606811)

UniProtKB/Swiss-Prot

AL4A1_HUMAN
  • Hyperprolinemia 2 (HP-2) [MIM:239510]: Characterized by the accumulation of delta-1-pyrroline-5-carboxylate (P5C) and proline. The disorder may be causally related to neurologic manifestations, including seizures and mental retardation. {ECO:0000269 PubMed:9700195}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(1) University of Copenhagen DISEASES for ALDH4A1 Gene

(1) Novoseek inferred disease relationships for ALDH4A1 Gene

Disease -log(P) Hits PubMed IDs
hyperprolinemia, type ii 97 1

Relevant External Links for ALDH4A1

Genetic Association Database (GAD)
ALDH4A1
Human Genome Epidemiology (HuGE) Navigator
ALDH4A1
genes like me logo Genes that share disorders with ALDH4A1: view

Publications for ALDH4A1 Gene

  1. Cloning, characterization, and expression of cDNAs encoding human delta 1-pyrroline-5-carboxylate dehydrogenase. (PMID: 8621661) Hu C.-A. … Valle D. (J. Biol. Chem. 1996) 2 3 4 23
  2. Human liver protein map: a reference database established by microsequencing and gel comparison. (PMID: 1286669) Hochstrasser D.F. … Hughes G.J. (Electrophoresis 1992) 3 4
  3. Identification of ALDH4 as a p53-inducible gene and its protective role in cellular stresses. (PMID: 14986171) Yoon K.A. … Arakawa H. (J. Hum. Genet. 2004) 3 23
  4. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory S.G. … Bentley D.R. (Nature 2006) 3 4
  5. Genetic variants in TPMT and COMT are associated with hearing loss in children receiving cisplatin chemotherapy. (PMID: 19898482) Ross C.J. … Hayden M.R. (Nat. Genet. 2009) 3 48

Products for ALDH4A1 Gene

Sources for ALDH4A1 Gene

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