ALDH7A1 Gene
protein-coding GIFtS: 66
GCID: GC05M125877
|
|
aldehyde dehydrogenase 7 family, member A1
(Previous symbol: ATQ1)
| |
Aliases
for ALDH7A1 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Aldehyde Dehydrogenase 7 Family, Member A11 2 | | Alpha-Aminoadipic Semialdehyde Dehydrogenase2 | | ATQ11 2 3 5 | | Antiquitin-13 | | EPD1 2 5 | | Antiquitin-13 | | PDE1 2 5 | | EC 1.2.1.33 | | Alpha-AASA Dehydrogenase2 3 | | EC 1.2.1.313 | | Betaine Aldehyde Dehydrogenase2 3 | | EC 1.2.1.83 | | Delta1-Piperideine-6-Carboxylate Dehydrogenase2 3 | | Aldehyde Dehydrogenase Family 7 Member A13 | | P6c Dehydrogenase2 3 | | EC 1.2.18 | | 26g Turgor Protein Homolog2 | | |
Export aliases for ALDH7A1 gene to outside databasesPrevious GC identifers: GC05M125514 GC05M126254 GC05M125909 GC05M125956 GC05M125908 GC05M121069 |
Summaries
for ALDH7A1 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for ALDH7A1:
The protein encoded by this gene is a member of subfamily 7 in the aldehyde dehydrogenase gene family. These enzymesare thought to play a major role in the detoxification of aldehydes generated by alcohol metabolism and lipidperoxidation. This particular member has homology to a previously described protein from the green garden pea, the 26gpea turgor protein. It is also involved in lysine catabolism that is known to occur in the mitochondrial matrix.Recent reports show that this protein is found both in the cytosol and the mitochondria, and the two forms likelyarise from the use of alternative translation initiation sites. An additional variant encoding a different isoform hasalso been found for this gene. Mutations in this gene are associated with pyridoxine-dependent epilepsy. Severalrelated pseudogenes have also been identified. (provided by RefSeq, Jan 2011)
UniProtKB/Swiss-Prot: AL7A1_HUMAN, P49419Function: Multifunctional enzyme mediating important protective effects. Metabolizes betaine aldehyde to betaine, animportant cellular osmolyte and methyl donor. Protects cells from oxidative stress by metabolizing a number of lipidperoxidation-derived aldehydes. Involved in lysine catabolism
Gene Wiki entry for ALDH7A1
|
Genomic Views
for ALDH7A1 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000005.9 NC_018916.1 NT_034772.6
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the ALDH7A1 gene promoter:
GCNF CUTL1 PPAR-gamma1 SRY GCNF-1 POU2F1a IRF-7A PPAR-gamma2 GCNF-2 Ik-1
Other transcription factors
Search SABiosciences Chromatin IP Primers for ALDH7A1
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ALDH7A1 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 5q31 Ensembl cytogenetic band: 5q23.2 HGNC cytogenetic band: 5q31ALDH7A1 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 5 GeneLoc Exon Structure GeneLoc location for GC05M125877: view genomic region
(about GC identifiers)
Start:
|
125,877,533 bp from pter |
End:
|
125,931,110 bp from pter |
Size:
|
53,578 bases |
Orientation:
|
minus strand |
|
Proteins
for ALDH7A1 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: AL7A1_HUMAN, P49419 (See
protein sequence)Recommended Name: Alpha-aminoadipic semialdehyde dehydrogenase precursor Size: 539 amino acids; 58487 Da
Subunit: Homotetramer (By similarity)
Subcellular location: Mitochondrion. Nucleus
Subcellular location: Isoform 2: Cytoplasm, cytosol
Sequence caution: Sequence=AAC51935.1; Type=Frameshift; Positions=233, 268; Sequence=AAH02515.3; Type=Erroneousinitiation; Sequence=AAH71712.1; Type=Erroneous initiation; Sequence=AAH73174.1; Type=Erroneous initiation;Sequence=BAG35366.1; Type=Erroneous initiation;
1 PDB 3D structure from  and Proteopedia  for ALDH7A1:2J6L (3D)
Secondary accessions: B2R669 B4DIC7 B4DMA0 E7EPT3 O14619 Q6IPU8 Q9BUL4Alternative splicing: 4 isoforms: P49419-1 P49419-2 P49419-3 P49419-4 (No experimental confirmation available)Explore the universe of human proteins at neXtProt for ALDH7A1: NX_P49419
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_P49419
4/6 DME Specific Peptides for ALDH7A1 (P49419) (see all 6)
ALDH7A1 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins (3 alternative transcripts):
NP_001173.2 NP_001188306.1 NP_001189333.1
ENSEMBL proteins: ENSP00000387123 ENSP00000448593 ENSP00000403929 ENSP00000447388 ENSP00000449318 ENSP00000414536 ENSP00000414132 Reactome Protein details: P49419
Human Recombinant Protein Products:
Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6): About this table
ALDH7A1 for ontologies About GeneDecksing
ALDH7A1 Antibody Products:
Assay Products for ALDH7A1: |
Protein
Domains /
Families
for ALDH7A1 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
ALDH7A1 for domains About GeneDecksing
5 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry P49419ProtoNet protein and cluster: P49419 1 Blocks protein family: IPB002086 Aldehyde dehydrogenase
UniProtKB/Swiss-Prot: AL7A1_HUMAN, P49419Similarity: Belongs to the aldehyde dehydrogenase family |
Function
for ALDH7A1 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: AL7A1_HUMAN, P49419Function: Multifunctional enzyme mediating important protective effects. Metabolizes betaine aldehyde to betaine, animportant cellular osmolyte and methyl donor. Protects cells from oxidative stress by metabolizing a number of lipidperoxidation-derived aldehydes. Involved in lysine catabolismCatalytic activity: (S)-2-amino-6-oxohexanoate + NAD(P)(+) + H(2)O = L-2-aminoadipate + NAD(P)HCatalytic activity: Betaine aldehyde + NAD(+) + H(2)O = betaine + NADHCatalytic activity: An aldehyde + NAD(+) + H(2)O = a carboxylate + NADHBiophysicochemical properties: Kinetic parameters: KM=28.5 uM for nonanal; KM=5.3 uM for trans-2-nonenal; KM=39.1 uMfor hexanal; KM=17.5 uM for octanal; KM=41.1 uM for betaine aldehyde; KM=169 uM for L-2-aminoadipate 6-semialdehyde;KM=530.2 uM for benzaldehyde; KM=647.4 uM for propanal; KM=7374.3 uM for glyceraldehyde; Vmax=364.9 nmol/min/mg enzymetoward nonanal; Vmax=34.9 nmol/min/mg enzyme toward trans-2-nonenal; Vmax=243.3 nmol/min/mg enzyme toward hexanal;Vmax=72.3 nmol/min/mg enzyme toward octanal; Vmax=101.4 nmol/min/mg enzyme toward betaine aldehyde; Vmax=276.2nmol/min/mg enzyme toward L-2-aminoadipate 6- semialdehyde; Vmax=125.2 nmol/min/mg enzyme toward benzaldehyde;Vmax=69.9 nmol/min/mg enzyme toward propanal; Vmax=174 nmol/min/mg enzyme toward glyceraldehyde;Enzyme Numbers (IUBMB): EC 1.2.12 EC 1.2.1.81 EC 1.2.1.31 EC 1.2.1.311
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ALDH7A1 (see all 4)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ALDH7A1 (see all 3)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
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Synthesis Service for ALDH7A1 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ALDH7A1 |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ALDH7A1 |
Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0004029 | aldehyde dehydrogenase (NAD) activity |
ISS | -- | | GO:0004043 | L-aminoadipate-semialdehyde dehydrogenase activity |
EXP | -- | | GO:0005515 | protein binding |
IPI | -- | | GO:0008802 | betaine-aldehyde dehydrogenase activity |
IEA | -- | | GO:0016491 | oxidoreductase activity |
-- | -- |
ALDH7A1 for ontologies About GeneDecksing
Animal Models:
1 MGI mutant phenotype (inferred from 1 allele ) (MGI details for Aldh7a1):
ALDH7A1 for phenotypes About GeneDecksing
|
Pathways & Interactions
for ALDH7A1 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Unified GeneCards pathways - 5/16 super-pathways (see all 16) About this table
See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | Metabolism | | | 2 | lysine degradation II | | | 3 | Branched-chain amino acid catabolism | | | 4 | Metabolism of amino acids and derivatives | | | 5 | Lysine catabolism | |
Pathway sources
See GeneCards unified pathways
Show all pathways
1  BioSystems Pathway for ALDH7A1
3 
Reactome Pathways for ALDH7A1
5/15 
Kegg Pathways (Kegg details for ALDH7A1) (see all 15):
UniProtKB/Swiss-Prot: AL7A1_HUMAN, P49419Pathway: Amine and polyamine biosynthesis; betaine biosynthesis via choline pathway; betaine from betaine aldehyde:step 1/1
ALDH7A1 for pathways About GeneDecksing
Interactions:
SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for ALDH7A1
STRING Interaction
Network Preview (showing 5 interactants - click image to see 25)
5/65 Interacting proteins for ALDH7A1 (P494191, 2, 3 ENSP000003871234) via UniProtKB, MINT, STRING, and/or I2D (see all 65)
About this table
Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0006081 | cellular aldehyde metabolic process |
ISS | -- | | GO:0006554 | lysine catabolic process |
TAS | -- | | GO:0007605 | sensory perception of sound |
TAS | 9417906 | | GO:0019285 | glycine betaine biosynthetic process from choline |
IEA | -- | | GO:0034641 | cellular nitrogen compound metabolic process |
TAS | -- |
ALDH7A1 for ontologies About GeneDecksing
|
Drugs & Compounds
for ALDH7A1 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
ALDH7A1 for compounds About GeneDecksing
 Browse Tocris compounds for ALDH7A1
10/31 HMDB Compounds for ALDH7A1 (see all 31) About this table
2 DrugBank Compounds for ALDH7A1 About this table
3 Novoseek chemical compound relationships for ALDH7A1 gene About this table
Search CenterWatch for drugs/clinical trials and news about ALDH7A1 / AL7A1
|
Transcripts
for ALDH7A1 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for ALDH7A1 gene (3 alternative transcripts): NM_001182.4 NM_001201377.1 NM_001202404.1 Unigene Cluster for ALDH7A1: Aldehyde dehydrogenase 7 family, member A1 Hs.483239 [show with all ESTs]Unigene Representative Sequence: NM_00118217 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000409134(uc003ktv.3 uc003ktx.3 uc011cxa.2) ENST00000553117
ENST00000485852 ENST00000497231 ENST00000476328 ENST00000503281 ENST00000509459
ENST00000511221 ENST00000433026 ENST00000413020 ENST00000458249 ENST00000510111
ENST00000511266 ENST00000509270 ENST00000479989 ENST00000412186 ENST00000447989
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ALDH7A1 (see all 4)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ALDH7A1 (see all 3)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector (see all 3): ALDH7A1 (NM_001202404) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for ALDH7A1 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ALDH7A1 |
Additional cDNA sequence: AK021800.1 AK123774.1 AK295526.1 AK297365.1 AK312459.1 BC002515.2 BC071712.1 BC073174.1 S74728.1 24 DOTS entries: DT.100878329 DT.97796047 DT.100878333 DT.417712 DT.92455542 DT.100695250 DT.100878318 DT.100878327 DT.75139964 DT.92455530 DT.120851569 DT.100878326 DT.95089972 DT.120851514 DT.120851530 DT.120851565 DT.120851575 DT.92455543 DT.95089682 DT.95339877 DT.95339883 DT.100643912 DT.101986510 DT.95114444 24/465 AceView cDNA sequences (see all 465): AW244046 BF343770 AL550591 CR609868 BM835635 BE613464 BQ021103 BU149225 CR610995 BM474143 CR599602 AA022842 BM806987 BQ215758 AI467832 BQ423958 BM799677 CR617093 AA313608 AA022965 CA495308 CB159990 AU119802 BM750223
GeneLoc Exon Structure
5/6 Alternative Splicing Database (ASD) splice patterns (SP) for ALDH7A1 (see all 6) About this scheme
| ExUns: | 1a | · | 1b | · | 1c | ^ | 2a | · | 2b | ^ | 3a | · | 3b | ^ | 4 | ^ | 5a | · | 5b | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 |
|---|
|
| SP1: | | | | | | | - | | - | | - | | | | | | | | | | | | | | | | | | | | | | | | |
| SP2: | | | | | | | - | | | | - | | | | | | | | | | | | | | | | | | | | | | | | |
| SP3: | | | | | | | - | | - | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP4: | | | | | | | - | | - | | - | | - | | - | | | | | | | | | | | | | | | | | | | | |
| SP5: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
ECgene alternative splicing isoforms for ALDH7A1
|
Expression
for ALDH7A1 gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| ALDH7A1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: AGAAGGTCTA
About this image
See ALDH7A1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for ALDH7A1
SOURCE GeneReport for Unigene cluster: Hs.483239
UniProtKB/Swiss-Prot: AL7A1_HUMAN, P49419Tissue specificity: Abundant in hepatoma cells and fetal cochlea, ovary, eye, heart, adrenal gland, liver and kidney.Low levels present in adult peripheral blood leukocytes and fetal brain, thymus, spleen, skeletal muscle, lung andtongue
SABiosciences Expression via Pathway-Focused PCR Array including ALDH7A1:
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for ALDH7A1
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat ALDH7A1 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ALDH7A1 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ALDH7A1 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ALDH7A1 |
Orthologs
for ALDH7A1 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the last universal common ancestor (LUCA).
Orthologs for ALDH7A1 gene from 10/34 species (see all 34) About this table
| Organism |
Taxonomic
classification |
Gene |
Description |
Human
Similarity |
Orthology
Type |
Details |
mouse
(Mus musculus) |
Mammalia |
Aldh7a11 , 5 |
aldehyde dehydrogenase family 7, member A11, 5 |
85.53(n)1
88.31(a)1 |
|
18 (30.55 cM)5
1106951 NM_138600.41 NP_613066.21
565096875 |
chicken
(Gallus gallus) |
Aves |
ALDH7A11 |
aldehyde dehydrogenase 7 family, member A1 |
79.07(n)
86.63(a) |
|
426812 XM_424422.3 XP_424422.2 |
lizard
(Anolis carolinensis) |
Reptilia |
ALDH7A16 |
-- |
83(a) |
1 ↔ 1 |
GL343193.1(14215117-14246734) |
African clawed frog
(Xenopus laevis) |
Amphibia |
Xl.255862 |
Xenopus laevis transcribed sequence with moderate similarity more |
74.37(n) |
|
BU901246.1 |
zebrafish
(Danio rerio) |
Actinopterygii |
Dr.24302 |
Danio rerio mRNA similar to aldehyde dehydrogenase more |
76.31(n) |
|
BC044367.1 |
fruit fly
(Drosophila melanogaster) |
Insecta |
CG96291 , 3 |
aldehyde dehydrogenase (NAD+)3
CG96291 |
57(a)3
55.77(n)1
56.98(a)1 |
|
76A33
400971 NM_140842.21 NP_649099.11 |
worm
(Caenorhabditis elegans) |
Secernentea |
alh-91 |
Protein ALH-9 |
61.63(n)
64.9(a) |
|
175820 NM_065862.2 NP_498263.2 |
thale cress
(Arabidopsis thaliana) |
eudicotyledons |
ALDH7B41 |
aldehyde dehydrogenase 7B4 |
59.27(n)
60.2(a) |
|
841849 NM_179476.2 NP_849807.1 |
rice
(Oryza sativa) |
Liliopsida |
Os.79322 |
Oryza sativa aldehyde dehydrogenase (ALDH) mRNA, complete more |
74.57(n) |
|
AK119560.1 |
E. coli
(Escherichia coli) |
Gamma proteobacteria |
astD6 |
succinylglutamic semialdehyde dehydrogenase |
22(a) |
1 ↔ 1 |
Chromosome(1826280-1827758) |
ENSEMBL Gene Tree for ALDH7A1 (if available)
TreeFam Gene Tree for ALDH7A1 (if available) |
Paralogs
for ALDH7A1 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for ALDH7A1 gene
- ALDH1L22 ALDH1A12 ENSG000002577672 ALDH1A22 ALDH1B12 ALDH22 ALDH16A12 ALDH8A12
- ALDH9A12 ALDH1L12 ALDH1A32
7 SIMAP similar genes for ALDH7A1 using alignment to 6 protein entries: AL7A1_HUMAN (see all proteins):ALDH1L2 ALDH1A3 ALDH1A2 ALDH9A1 ALDH1B1 ALDH2
ALDH1A1
ALDH7A1 for paralogs About GeneDecksing
4 Pseudogenes.org Pseudogenes for ALDH7A1
PGOHUM00000262847 PGOHUM00000240425 PGOHUM00000235664 PGOHUM00000233076
|
Genomic Variants
for ALDH7A1 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 5 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for ALDH7A1 (125877533 - 125931110 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for ALDH7A1: --
Human Gene Mutation Database (HGMD): ALDH7A1
Locus Specific Mutation Databases (LSDB): ALDH7A1
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ALDH7A1 |
|
Disorders
/ Diseases
for ALDH7A1 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
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ALDH7A1 for disorders About GeneDecksing
OMIM gene information: 107323
OMIM disorders: 266100
UniProtKB/Swiss-Prot: AL7A1_HUMAN, P49419
Defects in ALDH7A1 are the cause of pyridoxine-dependent epilepsy (PDE) [MIM:266100]. PDE is characterized bya combination of various seizure types. It usually occurs in the first hours of life and is unresponsive to standardanticonvulsants, responding only to immediate administration of pyridoxine hydrochloride
20/22  diseases for ALDH7A1 (see all 22): About MalaCardspyridoxine-dependent epilepsy paroxysmal nocturnal hemoglobinuria status epilepticus nodular malignant melanoma
cortical blindness hemoglobinuria atopic dermatitis alcoholism
retinal degeneration seizures dermatitis blindness
huntington's disease brain disease osteoporosis retinitis
peritonitis prostate cancer prostatitis tuberculosis
1 disease from the University of Copenhagen DISEASES database for ALDH7A1:Cortical blindness GeneTests: ALDH7A1
Pyridoxine-Dependent Seizures
Human Genome Epidemiology (HuGE) Navigator: ALDH7A1 (3 documents)
Export disorders for ALDH7A1 gene to outside databases
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Publications
for ALDH7A1 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
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PubMed articles for ALDH7A1 gene, integrated from 9 sources (see all 55):
(articles sorted by number of sources associating them with ALDH7A1) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- An ancient conserved gene expressed in the human inner ear: identification, expression analysis, and chromosomal mapping of human and mouse antiquitin (ATQ1). (PubMed id 9417906)1, 2, 3, 9 Skvorak A.B.... Morton C.C. (1997)
- Aldehyde dehydrogenase 7A1 (ALDH7A1) is a novel enzyme involved in cellular defense against hyperosmotic stress. (PubMed id 20207735)1, 2, 9 Brocker C.... Vasiliou V. (2010)
- Mutations in antiquitin in individuals with pyridoxine-dependent seizures. (PubMed id 16491085)1, 2, 9 Mills P.B.... Clayton P.T. (2006)
- Biochemical and molecular characterization of 18 patients with pyridoxine-dependent epilepsy and mutations of the antiquitin (ALDH7A1) gene. (PubMed id 17068770)1, 7, 9 Plecko B....Erwa W. (2007)
- Homology between a human protein and a protein of the green garden pea. (PubMed id 8088832)1, 2, 9 Lee P.... Beutler E. (1994)
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
- Is antiquitin a mitochondrial Enzyme? (PubMed id 19885858)1, 9 Wong J.W....Fong W.P. (2010)
- Prevalence of ALDH7A1 mutations in 18 North American pyridoxine-dependent seizure (PDS) patients. (PubMed id 19128417)1, 9 Bennett C.L....Gospe S.M. (2009)
- Two novel ALDH7A1 (antiquitin) splicing mutations associated with pyridoxine-dependent seizures. (PubMed id 18717709)1, 9 Striano P....Jakobs C. (2009)
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External Searches for ALDH7A1 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
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Genome Databases showing ALDH7A1 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
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Other Databases showing ALDH7A1 gene
(According to HUGE)
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Specialized Databases showing ALDH7A1 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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| Name | Description |
| PharmGKB entry for ALDH7A1 | Pharmacogenomics, SNPs, Pathways | | GeneReviews | http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ALDH7A1 |
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| Patent Information for ALDH7A1 gene:
Search GeneIP for patents involving ALDH7A1
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Products
for ALDH7A1 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
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