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ALDH4A1 (aldehyde dehydrogenase 4 family member A1)

Identity

Other namesALDH4
P5CD
P5CDh
HGNC (Hugo) ALDH4A1
LocusID (NCBI) 8659
Atlas_Id 46989
Location 1p36.13  [Link to chromosome band 1p36]
Location_base_pair Starts at 19197924 and ends at 19217385 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
ALDH4A1 (1p36.13) / RMI2 (16p13.13)PSMC5 (17q23.3) / ALDH4A1 (1p36.13)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)ALDH4A1   406
Cards
Entrez_Gene (NCBI)ALDH4A1  8659  aldehyde dehydrogenase 4 family member A1
AliasesALDH4; P5CD; P5CDh
GeneCards (Weizmann)ALDH4A1
Ensembl hg19 (Hinxton)ENSG00000159423 [Gene_View]  chr1:19197924-19217385 [Contig_View]  ALDH4A1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000159423 [Gene_View]  chr1:19197924-19217385 [Contig_View]  ALDH4A1 [Vega]
ICGC DataPortalENSG00000159423
TCGA cBioPortalALDH4A1
AceView (NCBI)ALDH4A1
Genatlas (Paris)ALDH4A1
WikiGenes8659
SOURCE (Princeton)ALDH4A1
Genomic and cartography
GoldenPath hg19 (UCSC)ALDH4A1  -     chr1:19197924-19217385 -  1p36.13   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)ALDH4A1  -     1p36.13   [Description]    (hg38-Dec_2013)
EnsemblALDH4A1 - 1p36.13 [CytoView hg19]  ALDH4A1 - 1p36.13 [CytoView hg38]
Mapping of homologs : NCBIALDH4A1 [Mapview hg19]  ALDH4A1 [Mapview hg38]
OMIM239510   606811   
Gene and transcription
Genbank (Entrez)AK222486 AK289972 AK294552 BC007581 BC023600
RefSeq transcript (Entrez)NM_001161504 NM_001319218 NM_003748 NM_170726
RefSeq genomic (Entrez)NC_000001 NC_018912 NG_012283 NT_032977 NW_004929289
Consensus coding sequences : CCDS (NCBI)ALDH4A1
Cluster EST : UnigeneHs.77448 [ NCBI ]
CGAP (NCI)Hs.77448
Alternative Splicing GalleryENSG00000159423
Gene ExpressionALDH4A1 [ NCBI-GEO ]   ALDH4A1 [ EBI - ARRAY_EXPRESS ]   ALDH4A1 [ SEEK ]   ALDH4A1 [ MEM ]
Gene Expression Viewer (FireBrowse)ALDH4A1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)8659
GTEX Portal (Tissue expression)ALDH4A1
Protein : pattern, domain, 3D structure
UniProt/SwissProtP30038 (Uniprot)
NextProtP30038  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP30038
Splice isoforms : SwissVarP30038 (Swissvar)
Catalytic activity : Enzyme1.2.1.88 [ Enzyme-Expasy ]   1.2.1.881.2.1.88 [ IntEnz-EBI ]   1.2.1.88 [ BRENDA ]   1.2.1.88 [ KEGG ]   
PhosPhoSitePlusP30038
Domaine pattern : Prosite (Expaxy)ALDEHYDE_DEHYDR_CYS (PS00070)    ALDEHYDE_DEHYDR_GLU (PS00687)   
Domains : Interpro (EBI)Ald_DH/histidinol_DH    Ald_DH_C    Ald_DH_CS_CYS    Ald_DH_CS_GLU    Ald_DH_N    Aldehyde_DH_dom    P5CDH/ALDH4A1   
Domain families : Pfam (Sanger)Aldedh (PF00171)   
Domain families : Pfam (NCBI)pfam00171   
DMDM Disease mutations8659
Blocks (Seattle)ALDH4A1
PDB (SRS)3V9G    3V9H    3V9I    4OE5   
PDB (PDBSum)3V9G    3V9H    3V9I    4OE5   
PDB (IMB)3V9G    3V9H    3V9I    4OE5   
PDB (RSDB)3V9G    3V9H    3V9I    4OE5   
Structural Biology KnowledgeBase3V9G    3V9H    3V9I    4OE5   
SCOP (Structural Classification of Proteins)3V9G    3V9H    3V9I    4OE5   
CATH (Classification of proteins structures)3V9G    3V9H    3V9I    4OE5   
SuperfamilyP30038
Human Protein AtlasENSG00000159423
Peptide AtlasP30038
HPRD06009
IPIIPI00217871   IPI00647328   IPI00552848   IPI00930698   IPI01011410   
Protein Interaction databases
DIP (DOE-UCLA)P30038
IntAct (EBI)P30038
FunCoupENSG00000159423
BioGRIDALDH4A1
STRING (EMBL)ALDH4A1
ZODIACALDH4A1
Ontologies - Pathways
QuickGOP30038
Ontology : AmiGO1-pyrroline-5-carboxylate dehydrogenase activity  aldehyde dehydrogenase (NAD) activity  mitochondrial matrix  glutamate biosynthetic process  proline metabolic process  proline biosynthetic process  proline catabolic process  electron carrier activity  proline catabolic process to glutamate  4-hydroxyproline catabolic process  identical protein binding  oxidation-reduction process  
Ontology : EGO-EBI1-pyrroline-5-carboxylate dehydrogenase activity  aldehyde dehydrogenase (NAD) activity  mitochondrial matrix  glutamate biosynthetic process  proline metabolic process  proline biosynthetic process  proline catabolic process  electron carrier activity  proline catabolic process to glutamate  4-hydroxyproline catabolic process  identical protein binding  oxidation-reduction process  
Pathways : KEGGAlanine, aspartate and glutamate metabolism    Arginine and proline metabolism   
NDEx Network
Atlas of Cancer Signalling NetworkALDH4A1
Wikipedia pathwaysALDH4A1
Orthology - Evolution
OrthoDB8659
GeneTree (enSembl)ENSG00000159423
Phylogenetic Trees/Animal Genes : TreeFamALDH4A1
Homologs : HomoloGeneALDH4A1
Homology/Alignments : Family Browser (UCSC)ALDH4A1
Gene fusions - Rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerALDH4A1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ALDH4A1
dbVarALDH4A1
ClinVarALDH4A1
1000_GenomesALDH4A1 
Exome Variant ServerALDH4A1
ExAC (Exome Aggregation Consortium)ALDH4A1 (select the gene name)
Genetic variants : HAPMAP8659
Genomic Variants (DGV)ALDH4A1 [DGVbeta]
Mutations
ICGC Data PortalALDH4A1 
TCGA Data PortalALDH4A1 
Broad Tumor PortalALDH4A1
OASIS PortalALDH4A1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICALDH4A1 
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch ALDH4A1
DgiDB (Drug Gene Interaction Database)ALDH4A1
DoCM (Curated mutations)ALDH4A1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ALDH4A1 (select a term)
intoGenALDH4A1
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)1:19197924-19217385  ENSG00000159423
CONAN: Copy Number AnalysisALDH4A1 
Mutations and Diseases : HGMDALDH4A1
OMIM239510    606811   
MedgenALDH4A1
Genetic Testing Registry ALDH4A1
NextProtP30038 [Medical]
TSGene8659
GENETestsALDH4A1
Huge Navigator ALDH4A1 [HugePedia]
snp3D : Map Gene to Disease8659
BioCentury BCIQALDH4A1
ClinGenALDH4A1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD8659
Chemical/Pharm GKB GenePA24701
Clinical trialALDH4A1
Miscellaneous
canSAR (ICR)ALDH4A1 (select the gene name)
Probes
Litterature
PubMed24 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineALDH4A1
EVEXALDH4A1
GoPubMedALDH4A1
iHOPALDH4A1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Aug 9 19:12:45 CEST 2016

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