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ALDH6A1 (aldehyde dehydrogenase 6 family member A1)

Identity

Alias_namesMMSDH
aldehyde dehydrogenase 6 family
Other aliasMMSADHA
HGNC (Hugo) ALDH6A1
LocusID (NCBI) 4329
Atlas_Id 54114
Location 14q24.3  [Link to chromosome band 14q24]
Location_base_pair Starts at 74057665 and ends at 74084493 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
ALDH6A1 (14q24.3) / RACK1 (5q35.3)NUMB (14q24.2) / ALDH6A1 (14q24.3)

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)ALDH6A1   7179
Cards
Entrez_Gene (NCBI)ALDH6A1  4329  aldehyde dehydrogenase 6 family member A1
AliasesMMSADHA; MMSDH
GeneCards (Weizmann)ALDH6A1
Ensembl hg19 (Hinxton)ENSG00000119711 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000119711 [Gene_View]  chr14:74057665-74084493 [Contig_View]  ALDH6A1 [Vega]
ICGC DataPortalENSG00000119711
TCGA cBioPortalALDH6A1
AceView (NCBI)ALDH6A1
Genatlas (Paris)ALDH6A1
WikiGenes4329
SOURCE (Princeton)ALDH6A1
Genetics Home Reference (NIH)ALDH6A1
Genomic and cartography
GoldenPath hg38 (UCSC)ALDH6A1  -     chr14:74057665-74084493 -  14q24.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ALDH6A1  -     14q24.3   [Description]    (hg19-Feb_2009)
EnsemblALDH6A1 - 14q24.3 [CytoView hg19]  ALDH6A1 - 14q24.3 [CytoView hg38]
Mapping of homologs : NCBIALDH6A1 [Mapview hg19]  ALDH6A1 [Mapview hg38]
OMIM603178   614105   
Gene and transcription
Genbank (Entrez)AF038011 AF148505 AF159889 AI244036 AJ249994
RefSeq transcript (Entrez)NM_001278593 NM_001278594 NM_005589
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ALDH6A1
Cluster EST : UnigeneHs.744472 [ NCBI ]
CGAP (NCI)Hs.744472
Alternative Splicing GalleryENSG00000119711
Gene ExpressionALDH6A1 [ NCBI-GEO ]   ALDH6A1 [ EBI - ARRAY_EXPRESS ]   ALDH6A1 [ SEEK ]   ALDH6A1 [ MEM ]
Gene Expression Viewer (FireBrowse)ALDH6A1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)4329
GTEX Portal (Tissue expression)ALDH6A1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ02252   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ02252  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ02252
Splice isoforms : SwissVarQ02252
Catalytic activity : Enzyme1.2.1.18 [ Enzyme-Expasy ]   1.2.1.181.2.1.18 [ IntEnz-EBI ]   1.2.1.18 [ BRENDA ]   1.2.1.18 [ KEGG ]   
PhosPhoSitePlusQ02252
Domaine pattern : Prosite (Expaxy)ALDEHYDE_DEHYDR_CYS (PS00070)   
Domains : Interpro (EBI)Ald_DH/histidinol_DH    Ald_DH_C    Ald_DH_CS_CYS    Ald_DH_N    Aldehyde_DH_dom    MeMal-semiAld_DH    MeMal-semiAld_DH_mit   
Domain families : Pfam (Sanger)Aldedh (PF00171)   
Domain families : Pfam (NCBI)pfam00171   
Conserved Domain (NCBI)ALDH6A1
DMDM Disease mutations4329
Blocks (Seattle)ALDH6A1
SuperfamilyQ02252
Human Protein AtlasENSG00000119711
Peptide AtlasQ02252
HPRD04416
IPIIPI00024990   IPI01025367   IPI01024984   
Protein Interaction databases
DIP (DOE-UCLA)Q02252
IntAct (EBI)Q02252
FunCoupENSG00000119711
BioGRIDALDH6A1
STRING (EMBL)ALDH6A1
ZODIACALDH6A1
Ontologies - Pathways
QuickGOQ02252
Ontology : AmiGOfatty-acyl-CoA binding  RNA binding  methylmalonate-semialdehyde dehydrogenase (acylating) activity  methylmalonate-semialdehyde dehydrogenase (acylating) activity  methylmalonate-semialdehyde dehydrogenase (acylating) activity  nucleoplasm  mitochondrion  mitochondrion  mitochondrial matrix  thymine catabolic process  valine metabolic process  valine catabolic process  branched-chain amino acid catabolic process  malonate-semialdehyde dehydrogenase (acetylating) activity  thymine metabolic process  brown fat cell differentiation  oxidation-reduction process  extracellular exosome  
Ontology : EGO-EBIfatty-acyl-CoA binding  RNA binding  methylmalonate-semialdehyde dehydrogenase (acylating) activity  methylmalonate-semialdehyde dehydrogenase (acylating) activity  methylmalonate-semialdehyde dehydrogenase (acylating) activity  nucleoplasm  mitochondrion  mitochondrion  mitochondrial matrix  thymine catabolic process  valine metabolic process  valine catabolic process  branched-chain amino acid catabolic process  malonate-semialdehyde dehydrogenase (acetylating) activity  thymine metabolic process  brown fat cell differentiation  oxidation-reduction process  extracellular exosome  
Pathways : KEGGValine, leucine and isoleucine degradation    beta-Alanine metabolism    Inositol phosphate metabolism    Propanoate metabolism   
NDEx NetworkALDH6A1
Atlas of Cancer Signalling NetworkALDH6A1
Wikipedia pathwaysALDH6A1
Orthology - Evolution
OrthoDB4329
GeneTree (enSembl)ENSG00000119711
Phylogenetic Trees/Animal Genes : TreeFamALDH6A1
HOVERGENQ02252
HOGENOMQ02252
Homologs : HomoloGeneALDH6A1
Homology/Alignments : Family Browser (UCSC)ALDH6A1
Gene fusions - Rearrangements
Fusion : MitelmanNUMB/ALDH6A1 [14q24.2/14q24.3]  [t(14;14)(q24;q24)]  
Fusion Cancer (Beijing)ALDH6A1 [14q24.3]  -  GNB2L1 [5q35.3]  [FUSC002117]
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerALDH6A1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ALDH6A1
dbVarALDH6A1
ClinVarALDH6A1
1000_GenomesALDH6A1 
Exome Variant ServerALDH6A1
ExAC (Exome Aggregation Consortium)ALDH6A1 (select the gene name)
Genetic variants : HAPMAP4329
Genomic Variants (DGV)ALDH6A1 [DGVbeta]
DECIPHERALDH6A1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisALDH6A1 
Mutations
ICGC Data PortalALDH6A1 
TCGA Data PortalALDH6A1 
Broad Tumor PortalALDH6A1
OASIS PortalALDH6A1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICALDH6A1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDALDH6A1
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 ALDH6A1
DgiDB (Drug Gene Interaction Database)ALDH6A1
DoCM (Curated mutations)ALDH6A1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ALDH6A1 (select a term)
intoGenALDH6A1
Cancer3DALDH6A1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM603178    614105   
Orphanet20709   
MedgenALDH6A1
Genetic Testing Registry ALDH6A1
NextProtQ02252 [Medical]
TSGene4329
GENETestsALDH6A1
Target ValidationALDH6A1
Huge Navigator ALDH6A1 [HugePedia]
snp3D : Map Gene to Disease4329
BioCentury BCIQALDH6A1
ClinGenALDH6A1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD4329
Chemical/Pharm GKB GenePA24703
Clinical trialALDH6A1
Miscellaneous
canSAR (ICR)ALDH6A1 (select the gene name)
Probes
Litterature
PubMed21 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineALDH6A1
EVEXALDH6A1
GoPubMedALDH6A1
iHOPALDH6A1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 25 18:56:54 CEST 2017

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