ENSG00000159423
Homo sapiens | |
Features
| Gene ID: | ENSG00000159423 | | | | | Biological name : | ALDH4A1 | | | | | Synonyms : | aldehyde dehydrogenase 4 family member A1 / ALDH4A1 / P30038 | | | | | Possible biological names infered from orthology : | | | | | | Species: | Homo sapiens | | | | | Chr. number: | 1 | | Strand: | -1 | | Band: | p36.13 | | Gene start: | 18871430 | | Gene end: | 18902781 | | | | | Corresponding Affymetrix probe sets: | 203722_at (Human Genome U133 Plus 2.0 Array) 211552_s_at (Human Genome U133 Plus 2.0 Array) | | | | | Cross references: | Ensembl peptide - ENSP00000290597
Ensembl peptide - ENSP00000393209
Ensembl peptide - ENSP00000442988
Ensembl peptide - ENSP00000446071
Ensembl peptide - ENSP00000364490
NCBI entrez gene - 8659
See in Manteia.
OMIM - 606811
RefSeq - NM_001319218
RefSeq - NM_001161504
RefSeq - NM_003748
RefSeq - NM_170726
RefSeq Peptide - NP_003739
RefSeq Peptide - NP_001154976
RefSeq Peptide - NP_001306147
RefSeq Peptide - NP_733844
swissprot - P30038
swissprot - A0A024RAD8
swissprot - Q5TF55
Ensembl - ENSG00000159423
| | | | | Related genetic diseases (OMIM): | 239510 - Hyperprolinemia, type II, 239510 |
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed
Ortholog prediction (from Ensembl)
Paralog prediction (from Ensembl)
No match
Protein motifs (from Interpro)
| IPR005931 | Delta-1-pyrroline-5-carboxylate dehydrogenase | | IPR015590 | Aldehyde dehydrogenase domain | | IPR016160 | Aldehyde dehydrogenase, cysteine active site | | IPR016161 | Aldehyde/histidinol dehydrogenase | | IPR016162 | Aldehyde dehydrogenase, N-terminal | | IPR029510 | Aldehyde dehydrogenase, glutamic acid active site |
Gene Ontology (GO)
Pathways (from Reactome)
Phenotype (from MGI, Zfin or HPO)
| HP:0000007 | Autosomal recessive inheritance | "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators] |
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| | HP:0001249 | Mental retardation | |
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| | HP:0001250 | Seizures | "Seizures are an intermittent `abnormality of the central nervous system` (FMA:HP:0002011) due to a sudden, excessive, disorderly discharge of cerebral neurons and characterized clinically by some combination of disturbance of sensation, loss of consciousness, impairment of psychic function, or convulsive movements." [HPO:probinson] |
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| | HP:0003080 | Hydroxyprolinuria | |
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| | HP:0003108 | Hyperglycinuria | |
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| | HP:0003137 | Prolinuria | |
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| | HP:0008358 | Hyperprolinemia | |
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Interacting proteins (from Reactome)
| ENSG00000159423 | P30038 / ALDH4A1 / aldehyde dehydrogenase 4 family member A1 | / complex |
0 s.
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