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Aliases for ALDH4A1 Gene

Aliases for ALDH4A1 Gene

  • Aldehyde Dehydrogenase 4 Family Member A1 2 3 5
  • L-Glutamate Gamma-Semialdehyde Dehydrogenase 3 4
  • Aldehyde Dehydrogenase 4 Family, Member A1 2 3
  • Aldehyde Dehydrogenase Family 4 Member A1 3 4
  • P5C Dehydrogenase 3 4
  • ALDH4 3 4
  • P5CDh 3 4
  • 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 p53 Pathway (RnD) and Histidine, lysine, phenylalanine, tyrosine, proline and tryptophan catabolism. GO annotations related to this gene include identical protein binding and electron carrier 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

Enhancers for ALDH4A1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around ALDH4A1 on UCSC Golden Path with GeneCards custom track

Promoters for ALDH4A1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ALDH4A1 on UCSC Golden Path with GeneCards custom track

Genomic Location for ALDH4A1 Gene

Chromosome:
1
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

Genes around ALDH4A1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ALDH4A1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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 Lys 495
  • Modification sites at PhosphoSitePlus

Other Protein References for ALDH4A1 Gene

Domains & Families for ALDH4A1 Gene

Gene Families for ALDH4A1 Gene

Graphical View of Domain Structure for InterPro Entry

P30038

UniProtKB/Swiss-Prot:

AL4A1_HUMAN :
  • Belongs to the aldehyde dehydrogenase family.
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

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

Human Phenotype Ontology for ALDH4A1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

miRNA for ALDH4A1 Gene

miRTarBase miRNAs that target ALDH4A1

No data available for Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets 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 3

No data available for Gene Ontology (GO) - Cellular Components for ALDH4A1 Gene

Pathways & Interactions 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
genes like me logo Genes that share ontologies with ALDH4A1: view

No data available for SIGNOR curated interactions for ALDH4A1 Gene

Drugs & Compounds for ALDH4A1 Gene

(5) Drugs for ALDH4A1 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Famotidine Approved Pharma Histamine H2-receptor antagonist 57
NADH Nutra Target 0
NAD Pharma Full agonist, Agonist 0
L-Glutamic Acid Nutra Full agonist, Agonist 0

(12) Additional Compounds for ALDH4A1 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
1-Pyrroline-5-carboxylic acid
  • (S)-1-pyrroline-5-carboxylate
  • 1-Pyrroline-5-carboxylate
  • 1-Pyrroline-5-carboxylic acid
  • 3,4-Dihydro-2h-pyrrole-2-carboxylate
  • 3,4-Dihydro-2h-pyrrole-2-carboxylic acid
2906-39-0
4-Hydroxy-L-glutamic acid
  • (2S)-2-amino-4-hydroxypentanedioate
  • (2S)-2-amino-4-hydroxypentanedioic acid
  • 4-Hydroxy-L-glutamate
  • 4-Hydroxy-L-glutamic acid
  • Erythro-4-hydroxyglutamate
2485-33-8
Hydrogen Ion
  • Hydrogen cation
  • Hydron
  • Proton
L-4-Hydroxyglutamate semialdehyde
L-Glutamic gamma-semialdehyde
  • Glutamate-semialdehyde
  • Glutamic gamma-semialdehyde
  • L-Glutamate 5-semialdehyde
  • L-Glutamate-5-semialdehyde
  • L-Glutamate-gamma-semialdehyde
496-92-4
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 differential expression in normal tissues according to GTEx for ALDH4A1 Gene

This gene is overexpressed in Liver (x13.9) and Kidney - Cortex (x8.9).

Protein differential expression in normal tissues from HIPED for ALDH4A1 Gene

This gene is overexpressed in Liver (23.2), Kidney (11.0), and Fetal Liver (6.9).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with ALDH4A1: view

Protein tissue co-expression partners for ALDH4A1 Gene

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for ALDH4A1 Gene

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
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
chimpanzee
(Pan troglodytes)
Mammalia ALDH4A1 35
  • 99.35 (n)
  • 99.47 (a)
ALDH4A1 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Aldh4a1 35
  • 87.19 (n)
  • 91.28 (a)
oppossum
(Monodelphis domestica)
Mammalia ALDH4A1 36
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ALDH4A1 36
  • 82 (a)
OneToOne
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)
zgc63592 35
aldh4a1 36
  • 70 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG7145 37
  • 61 (a)
P5CDh1 35
  • 64.4 (n)
  • 61.89 (a)
CG6661 36
  • 16 (a)
OneToMany
P5CDh1 36
  • 57 (a)
OneToMany
P5CDh2 36
  • 42 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004366 35
  • 63.4 (n)
  • 60.45 (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)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C10549g 35
  • 47.94 (n)
  • 45.14 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PUT2 35
  • 46.03 (n)
  • 43.14 (a)
PUT2 36
  • 40 (a)
OneToOne
PUT2 38
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.1289 35
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 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
rs146450609 - 18,902,477(+) TCCAG(A/G)GGCGG nc-transcript-variant, reference, missense
VAR_002260 Hyperprolinemia 2 (HYRPRO2)
rs2230709 - 18,875,434(-) AGCTG(A/G)TTGAC nc-transcript-variant, reference, missense, utr-variant-3-prime
rs6695033 - 18,875,425(+) GGTGG(C/T)GCTGT nc-transcript-variant, reference, missense, utr-variant-3-prime
rs9117 -- 18,872,401(-) CAGAC(C/T)GACCT intron-variant, nc-transcript-variant, utr-variant-3-prime

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

Variant ID Type Subtype PubMed ID
nsv870906 CNV Gain 21882294

Variation tolerance for ALDH4A1 Gene

Residual Variation Intolerance Score: 74.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.37; 76.94% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ALDH4A1 Gene

Human Gene Mutation Database (HGMD)
ALDH4A1

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

Disorders for ALDH4A1 Gene

MalaCards: The human disease database

(6) MalaCards diseases for ALDH4A1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
hyperprolinemia, type ii
  • hyperprolinemia type 2
hyperprolinemia
  • hyperprolinemia type 1
succinic semialdehyde dehydrogenase deficiency
  • 4-hydroxybutyric aciduria
gamma-amino butyric acid metabolism disorder
argininosuccinic aciduria
  • citrullinemia
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

AL4A1_HUMAN
  • Hyperprolinemia 2 (HYRPRO2) [MIM:239510]: An inborn error of proline metabolism resulting in elevated plasma levels of proline and delta-1-pyrroline-5-carboxylate (P5C). The condition is considered to be benign, but affected individuals can exhibit neurological manifestations that vary in severity. Clinical signs include seizures, intellectual deficit and mild developmental delay. {ECO:0000269 PubMed:9700195}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for ALDH4A1

Genetic Association Database (GAD)
ALDH4A1
Human Genome Epidemiology (HuGE) Navigator
ALDH4A1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ALDH4A1
genes like me logo Genes that share disorders with ALDH4A1: view

No data available for Genatlas for ALDH4A1 Gene

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 67
  2. Crystal structure of Thermus thermophilus Delta1-pyrroline-5-carboxylate dehydrogenase. (PMID: 16934832) Inagaki E. … Tahirov T.H. (J. Mol. Biol. 2006) 23 25
  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. Panorama of ancient metazoan macromolecular complexes. (PMID: 26344197) Wan C. … Emili A. (Nature 2015) 3
  5. Structural Studies of Yeast I9(1)-Pyrroline-5-carboxylate Dehydrogenase (ALDH4A1): Active Site Flexibility and Oligomeric State. (PMID: 24502590) Pemberton T.A. … Tanner J.J. (Biochemistry 2014) 3

Products for ALDH4A1 Gene

Sources for ALDH4A1 Gene

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