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ALDH4A1 (aldehyde dehydrogenase 4 family, member A1)

Identity

Other namesALDH4
P5CD
P5CDh
HGNC (Hugo) ALDH4A1
LocusID (NCBI) 8659
Location 1p36.13
Location_base_pair Starts at 19197924 and ends at 19217385 bp from pter ( according to hg19-Feb_2009)
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
GeneCards (Weizmann)ALDH4A1
Ensembl (Hinxton)ENSG00000159423 [Gene_View]  chr1:19197924-19217385 [Contig_View]  ALDH4A1 [Vega]
ICGC DataPortalENSG00000159423
cBioPortalALDH4A1
AceView (NCBI)ALDH4A1
Genatlas (Paris)ALDH4A1
WikiGenes8659
SOURCE (Princeton)NM_001161504 NM_003748 NM_170726
Genomic and cartography
GoldenPath (UCSC)ALDH4A1  -  1p36.13   chr1:19197924-19217385 -  1p36.13   [Description]    (hg19-Feb_2009)
EnsemblALDH4A1 - 1p36.13 [CytoView]
Mapping of homologs : NCBIALDH4A1 [Mapview]
OMIM239510   606811   
Gene and transcription
Genbank (Entrez)AK222486 AK289972 AK294552 BC007581 BC023600
RefSeq transcript (Entrez)NM_001161504 NM_003748 NM_170726
RefSeq genomic (Entrez)AC_000133 NC_000001 NC_018912 NG_012283 NT_032977 NW_001838573 NW_004929289
Consensus coding sequences : CCDS (NCBI)ALDH4A1
Cluster EST : UnigeneHs.77448 [ NCBI ]
CGAP (NCI)Hs.77448
Alternative Splicing : Fast-db (Paris)GSHG0001801
Alternative Splicing GalleryENSG00000159423
Gene ExpressionALDH4A1 [ NCBI-GEO ]     ALDH4A1 [ SEEK ]   ALDH4A1 [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP30038 (Uniprot)
NextProtP30038  [Medical]
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 ]   
Domaine pattern : Prosite (Expaxy)ALDEHYDE_DEHYDR_CYS (PS00070)    ALDEHYDE_DEHYDR_GLU (PS00687)   
Domains : Interpro (EBI)1-pyrroline-5-COlate_DH [organisation]   Ald_DH/histidinol_DH [organisation]   Ald_DH_C [organisation]   Ald_DH_CS_CYS [organisation]   Ald_DH_CS_GLU [organisation]   Ald_DH_N [organisation]   Aldehyde_DH_dom [organisation]  
Related proteins : CluSTrP30038
Domain families : Pfam (Sanger)Aldedh (PF00171)   
Domain families : Pfam (NCBI)pfam00171   
DMDM Disease mutations8659
Blocks (Seattle)P30038
PDB (SRS)3V9G    3V9H    3V9I    4OE5   
PDB (PDBSum)3V9G    3V9H    3V9I    4OE5   
PDB (IMB)3V9G    3V9H    3V9I    4OE5   
PDB (RSDB)3V9G    3V9H    3V9I    4OE5   
Human Protein AtlasENSG00000159423 [gene] [tissue] [antibody] [cell] [cancer]
Peptide AtlasP30038
HPRD06009
IPIIPI00217871   IPI00647328   IPI00552848   IPI00930698   IPI01011410   
Protein Interaction databases
DIP (DOE-UCLA)P30038
IntAct (EBI)P30038
FunCoupENSG00000159423
BioGRIDALDH4A1
InParanoidP30038
Interologous Interaction database P30038
IntegromeDBALDH4A1
STRING (EMBL)ALDH4A1
Ontologies - Pathways
Ontology : AmiGO1-pyrroline-5-carboxylate dehydrogenase activity  aldehyde dehydrogenase (NAD) activity  mitochondrial matrix  proline metabolic process  proline biosynthetic process  proline catabolic process  electron carrier activity  proline catabolic process to glutamate  4-hydroxyproline catabolic process  cellular nitrogen compound metabolic process  identical protein binding  small molecule metabolic process  oxidation-reduction process  
Ontology : EGO-EBI1-pyrroline-5-carboxylate dehydrogenase activity  aldehyde dehydrogenase (NAD) activity  mitochondrial matrix  proline metabolic process  proline biosynthetic process  proline catabolic process  electron carrier activity  proline catabolic process to glutamate  4-hydroxyproline catabolic process  cellular nitrogen compound metabolic process  identical protein binding  small molecule metabolic process  oxidation-reduction process  
Pathways : KEGGAlanine, aspartate and glutamate metabolism    Arginine and proline metabolism   
Protein Interaction DatabaseALDH4A1
Wikipedia pathwaysALDH4A1
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)ALDH4A1
snp3D : Map Gene to Disease8659
SNP (GeneSNP Utah)ALDH4A1
SNP : HGBaseALDH4A1
Genetic variants : HAPMAPALDH4A1
Exome VariantALDH4A1
1000_GenomesALDH4A1 
ICGC programENSG00000159423 
Somatic Mutations in Cancer : COSMICALDH4A1 
CONAN: Copy Number AnalysisALDH4A1 
Mutations and Diseases : HGMDALDH4A1
Mutations and Diseases : intOGenALDH4A1
Genomic VariantsALDH4A1  ALDH4A1 [DGVbeta]
dbVarALDH4A1
ClinVarALDH4A1
Pred. of missensesPolyPhen-2  SIFT(SG)  SIFT(JCVI)  Align-GVGD  MutAssessor  Mutanalyser  
Pred. splicesGeneSplicer  Human Splicing Finder  MaxEntScan  
Diseases
OMIM239510    606811   
MedgenALDH4A1
GENETestsALDH4A1
Disease Genetic AssociationALDH4A1
Huge Navigator ALDH4A1 [HugePedia]  ALDH4A1 [HugeCancerGEM]
General knowledge
Homologs : HomoloGeneALDH4A1
Homology/Alignments : Family Browser (UCSC)ALDH4A1
Phylogenetic Trees/Animal Genes : TreeFamALDH4A1
Chemical/Protein Interactions : CTD8659
Chemical/Pharm GKB GenePA24701
Clinical trialALDH4A1
Cancer Resource (Charite)ENSG00000159423
Other databases
Probes
Litterature
PubMed24 Pubmed reference(s) in Entrez
CoreMineALDH4A1
iHOPALDH4A1
OncoSearchALDH4A1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Mon Sep 22 18:37:58 CEST 2014

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