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ALDH7A1 (aldehyde dehydrogenase 7 family, member A1)

Identity

Other namesATQ1
EPD
PDE
HGNC (Hugo) ALDH7A1
LocusID (NCBI) 501
Location 5q23.2
Location_base_pair Starts at 125877533 and ends at 125931082 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)ALDH7A1   877
Entrez_Gene (NCBI)ALDH7A1  501  aldehyde dehydrogenase 7 family, member A1
Cards
GeneCards (Weizmann)ALDH7A1
Ensembl (Hinxton)ENSG00000164904 [Gene_View]  chr5:125877533-125931082 [Contig_View]  ALDH7A1 [Vega]
AceView (NCBI)ALDH7A1
Genatlas (Paris)ALDH7A1
SOURCE (Stanford)NM_001182 NM_001201377 NM_001202404
Genomic and cartography
GoldenPath (UCSC)ALDH7A1  -  5q23.2   chr5:125877533-125931082 -  5q23.2   [Description]    (hg19-Feb_2009)
EnsemblALDH7A1 - 5q23.2 [CytoView]
Mapping of homologs : NCBIALDH7A1 [Mapview]
OMIM107323   266100   
Gene and transcription
Genbank (Entrez)AI039375 AK021800 AK092507 AK123774 AK295526
RefSeq transcript (SRS)NM_001182 NM_001201377 NM_001202404
RefSeq transcript (Entrez)NM_001182 NM_001201377 NM_001202404
RefSeq genomic (SRS)AC_000137 NC_000005 NC_018916 NG_008600 NT_034772 NW_001838952 NW_004078024
RefSeq genomic (Entrez)AC_000137 NC_000005 NC_018916 NG_008600 NT_034772 NW_001838952 NW_004078024
Consensus coding sequences : CCDS (NCBI)ALDH7A1
Cluster EST : UnigeneHs.483239 [ SRS ] Hs.483239 [ NCBI ]
CGAP (NCI)Hs.483239
Alternative Splicing : Fast-db (Paris)GSHG0025030
Alternative Splicing GalleryENSG00000164904
Gene ExpressionALDH7A1 [ NCBI-GEO ]   ALDH7A1 [ EBI - ARRAY_EXPRESS ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP49419 (SRS) P49419 (Uniprot)
NextProtP49419
With graphics : InterProP49419
Splice isoforms : SwissVarP49419(Swissvar)
Domaine pattern : Prosite (SRS)ALDEHYDE_DEHYDR_CYS (PS00070)    ALDEHYDE_DEHYDR_GLU (PS00687)   
Domaine pattern : Prosite (Expaxy)ALDEHYDE_DEHYDR_CYS (PS00070)    ALDEHYDE_DEHYDR_GLU (PS00687)   
Domains : Interpro (SRS)Ald_DH/histidinol_DH    Ald_DH_C    Ald_DH_CS    Ald_DH_N    Aldehyde_DH_dom   
Domains : Interpro (EBI)Ald_DH/histidinol_DH    Ald_DH_C    Ald_DH_CS    Ald_DH_N    Aldehyde_DH_dom   
Related proteins : CluSTrP49419
Domain families : Pfam (SRS)Aldedh (PF00171)   
Domain families : Pfam (Sanger)Aldedh (PF00171)   
Domain families : Pfam (NCBI)pfam00171   
DMDM501
Blocks (Seattle)P49419
PDB (SRS)2J6L   
PDB (PDBSum)2J6L   
PDB (IMB)2J6L   
PDB (RSDB)2J6L   
Human Protein AtlasENSG00000164904
HPRD00124
IPIIPI00221234   IPI00936002   IPI00910420   IPI01022677   IPI01020665   IPI01021131   IPI00909694   IPI00917841   IPI00917139   
Protein Interaction databases
DIP (DOE-UCLA)P49419
IntAct (EBI)P49419
FunCoupENSG00000164904
REACTOMEALDH7A1
Protein Interaction Database501
BioGRIDALDH7A1
InParanoidP49419
Interologous Interaction database P49419
IntegromeDBALDH7A1
Polymorphism : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)ALDH7A1
SNP (GeneSNP Utah)ALDH7A1
SNP : HGBaseALDH7A1
Genetic variants : HAPMAPALDH7A1
Somatic Mutations in Cancer : COSMICALDH7A1 
CONAN: Copy Number AnalysisALDH7A1 
Mutations and Diseases : HGMDALDH7A1
OMIM107323    266100   
GENETests107323    266100   
Disease Genetic AssociationALDH7A1
Huge Navigator ALDH7A1 [HugePedia]  ALDH7A1 [HugeCancerGEM]
Genomic VariantsALDH7A1  ALDH7A1 [DGVbeta]
ClinVarALDH7A1
snp3D : Map Gene to Disease501
General knowledge
Homologs : HomoloGeneALDH7A1
Homology/Alignments : Family Browser (UCSC)ALDH7A1
Phylogenetic Trees/Animal Genes : TreeFamALDH7A1
Catalytic activity : Enzyme1.2.1.31 [ Enzyme-Expasy ]   1.2.1.31 [ Enzyme-SRS ]   1.2.1.31 [ IntEnz-EBI ]   1.2.1.31 [ BRENDA ]   1.2.1.31 [ KEGG ]   
Chemical/Protein Interactions : CTD501
Chemical/Pharm GKB GenePA24704
Clinical trialALDH7A1
Cancer Resource (Charite)ENSG00000164904
Ontology : AmiGOaldehyde dehydrogenase (NAD) activity  L-aminoadipate-semialdehyde dehydrogenase activity  protein binding  nucleus  cytoplasm  mitochondrion  mitochondrial matrix  cytosol  cellular aldehyde metabolic process  lysine catabolic process  sensory perception of sound  betaine-aldehyde dehydrogenase activity  glycine betaine biosynthetic process from choline  cellular nitrogen compound metabolic process  small molecule metabolic process  
Ontology : EGO-EBIaldehyde dehydrogenase (NAD) activity  L-aminoadipate-semialdehyde dehydrogenase activity  protein binding  nucleus  cytoplasm  mitochondrion  mitochondrial matrix  cytosol  cellular aldehyde metabolic process  lysine catabolic process  sensory perception of sound  betaine-aldehyde dehydrogenase activity  glycine betaine biosynthetic process from choline  cellular nitrogen compound metabolic process  small molecule metabolic process  
Pathways : KEGGLysine degradationLimonene and pinene degradationPropanoate metabolismFatty acid metabolismGlycolysis / GluconeogenesisArginine and proline metabolismAscorbate and aldarate metabolismGlycerolipid metabolismTryptophan metabolismHistidine metabolismButanoate metabolismPyruvate metabolismbeta-Alanine metabolismValine, leucine and isoleucine degradationBile acid biosynthesis
Other databases
Probes
Litterature
PubMed42 Pubmed reference(s) in Entrez
PubGeneALDH7A1
iHOPALDH7A1
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
Updated01-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Fri Jun 14 17:28:51 CEST 2013
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