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ALDH4A1 Gene

protein-coding   GIFtS: 69
GCID: GC01M019197

Aldehyde Dehydrogenase 4 Family, Member A1


(Previous symbol: ALDH4)
  See ALDH4A1-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Aldehyde Dehydrogenase 4 Family, Member A11 2     P5CD2
ALDH41 2 3 5     P5CDh2
Aldehyde Dehydrogenase Family 4 Member A12 3     Delta-1-Pyrroline-5-Carboxylate Dehydrogenase, Mitochondrial2
L-Glutamate Gamma-Semialdehyde Dehydrogenase2 3     Mitochondrial Delta-1-Pyrroline 5-Carboxylate Dehydrogenase2
P5C Dehydrogenase2 3     EC 1.2.1.883
P5CDH3 5     EC 1.5.1.128

External Ids:    HGNC: 4061   Entrez Gene: 86592   Ensembl: ENSG000001594237   OMIM: 6068115   UniProtKB: P300383   

Export aliases for ALDH4A1 gene to outside databases

Previous GC identifers: GC01U990216 GC01M018343 GC01M018667 GC01M018943 GC01M019070 GC01M019181 GC01M017442


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for ALDH4A1 Gene:
This protein belongs to the aldehyde dehydrogenase family of proteins. This enzyme is a mitochondrial matrix
NAD-dependent dehydrogenase which catalyzes the second step of the proline degradation pathway, converting
pyrroline-5-carboxylate to glutamate. Deficiency of this enzyme is associated with type II hyperprolinemia, an
autosomal recessive disorder characterized by accumulation of delta-1-pyrroline-5-carboxylate (P5C) and proline.
Alternatively spliced transcript variants encoding different isoforms have been identified for this gene.
(provided by RefSeq, Jun 2009)

GeneCards Summary for ALDH4A1 Gene:
ALDH4A1 (aldehyde dehydrogenase 4 family, member A1) is a protein-coding gene. Diseases associated with ALDH4A1 include hyperprolinemia type 2, and hyperprolinemia. GO annotations related to this gene include identical protein binding and aldehyde dehydrogenase (NAD) activity.

UniProtKB/Swiss-Prot: AL4A1_HUMAN, P30038
Function: Irreversible conversion of delta-1-pyrroline-5-carboxylate (P5C), derived either from proline or
ornithine, to glutamate. This is a necessary step in the pathway interconnecting the urea and tricarboxylic acid
cycles. The preferred substrate is glutamic gamma-semialdehyde, other substrates include succinic, glutaric and
adipic semialdehydes

Gene Wiki entry for ALDH4A1 (Aldehyde dehydrogenase 4 family, member A1) 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000001.10  NC_018912.2  NT_032977.10  
Regulatory elements:
   Regulatory transcription factor binding sites in the ALDH4A1 gene promoter:
         HOXA9B   HOXA9   TBP   Brachyury   AREB6   c-Rel   TFIID   Meis-1a   Meis-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidALDH4A1 promoter sequence
   Search Chromatin IP Primers for ALDH4A1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ALDH4A1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1p36   Ensembl cytogenetic band:  1p36.13   HGNC cytogenetic band: 1p36

ALDH4A1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ALDH4A1 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M019197:  view genomic region     (about GC identifiers)

Start:
19,197,924 bp from pter      End:
19,229,293 bp from pter
Size:
31,370 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: AL4A1_HUMAN, P30038 (See protein sequence)
Recommended Name: Delta-1-pyrroline-5-carboxylate dehydrogenase, mitochondrial precursor  
Size: 563 amino acids; 61719 Da
Subunit: Homodimer
3 PDB 3D structures from and Proteopedia for ALDH4A1:
3V9G (3D)        3V9H (3D)        3V9I (3D)    
Secondary accessions: A8K1Q7 B4DGE4 D2D4A3 Q16882 Q53HU4 Q5JNV6 Q8IZ38 Q96IF0 Q9UDI6
Alternative splicing: 3 isoforms:  P30038-1   P30038-2   P30038-3   

Explore the universe of human proteins at neXtProt for ALDH4A1: NX_P30038

Explore proteomics data for ALDH4A1 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys495
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for ALDH4A1 (P30038) (see all 17)
     PFNFTAI  TFFSAVID  VAKFCYADK  WLEHARSSP 


    See ALDH4A1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001154976.1  NP_003739.2  NP_733844.1  

    ENSEMBL proteins: 
     ENSP00000290597   ENSP00000364490   ENSP00000393209   ENSP00000446071   ENSP00000442988  
    Reactome Protein details: P30038

    ALDH4A1 Human Recombinant Protein Products:

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    ALDH: Aldehyde dehydrogenases

    Selected InterPro protein domains (see all 6):
     IPR016163 Ald_DH_C
     IPR016162 Ald_DH_N
     IPR016161 Ald_DH/histidinol_DH
     IPR005931 1-pyrroline-5-COlate_DH
     IPR015590 Aldehyde_DH_dom

    Graphical View of Domain Structure for InterPro Entry P30038

    ProtoNet protein and cluster: P30038

    1 Blocks protein domain: IPB002086 Aldehyde dehydrogenase

    UniProtKB/Swiss-Prot: AL4A1_HUMAN, P30038
    Similarity: Belongs to the aldehyde dehydrogenase family


    Find genes that share domains with ALDH4A1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: AL4A1_HUMAN, P30038
    Function: Irreversible conversion of delta-1-pyrroline-5-carboxylate (P5C), derived either from proline or
    ornithine, to glutamate. This is a necessary step in the pathway interconnecting the urea and tricarboxylic acid
    cycles. The preferred substrate is glutamic gamma-semialdehyde, other substrates include succinic, glutaric and
    adipic semialdehydes
    Catalytic activity: L-glutamate 5-semialdehyde + NAD(+) + H(2)O = L-glutamate + NADH
    Biophysicochemical properties: Kinetic parameters: KM=100 uM for NAD; KM=32 uM for L-pyrroline-5-carboxylate;

         Enzyme Numbers (IUBMB): EC 1.5.1.122 EC 1.2.1.881

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:00038421-pyrroline-5-carboxylate dehydrogenase activity EXP--
    GO:0004029aldehyde dehydrogenase (NAD) activity TAS8621661
    GO:0009055electron carrier activity TAS8621661
    GO:0016491oxidoreductase activity ----
    GO:0042802identical protein binding IPI--
         
    Find genes that share ontologies with ALDH4A1           About GenesLikeMe


    Phenotypes:
         4 GenomeRNAi human phenotypes for ALDH4A1:
     Decreased TP53 protein express  Decreased cell number, increas  Decreased viability of wild-ty  Increased number of mitotic ce 

    Animal Models:
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    miRNA
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    miRTarBase miRNAs that target ALDH4A1:
    hsa-mir-128-3p (MIRT022075)

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    hsa-miR-185* hsa-miR-27a hsa-miR-128 hsa-miR-3681* hsa-miR-27b hsa-miR-184
    SwitchGear 3'UTR luciferase reporter plasmidALDH4A1 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ALDH4A1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    AL4A1_HUMAN, P30038: Mitochondrion matrix
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion5
    cytosol2

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion ----
    GO:0005759mitochondrial matrix TAS--

    Find genes that share ontologies with ALDH4A1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for ALDH4A1 About    
    See pathways by source

    SuperPathContained pathways About
    1Arginine and proline metabolism
    Arginine and proline metabolism
    arginine degradation I (arginase pathway)0.00
    Proline catabolism0.00
    proline degradation0.00
    4-hydroxyproline degradation I0.00
    2Metabolism
    Metabolism0.38
    Metabolic pathways0.38
    3Metabolism of amino acids and derivatives
    Metabolism of amino acids and derivatives
    4Alanine, aspartate and glutamate metabolism
    Alanine, aspartate and glutamate metabolism


    Find genes that share SuperPaths with ALDH4A1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    3 BioSystems Pathways for ALDH4A1
        arginine degradation I (arginase pathway)
    proline degradation
    4-hydroxyproline degradation I


    1 Reactome Pathway for ALDH4A1
        Proline catabolism


    3 Kegg Pathways  (Kegg details for ALDH4A1):
        Alanine, aspartate and glutamate metabolism
    Arginine and proline metabolism
    Metabolic pathways

    UniProtKB/Swiss-Prot: AL4A1_HUMAN, P30038
    Pathway: Amino-acid degradation; L-proline degradation into L-glutamate; L-glutamate from L-proline: step 2/2

        Pathway & Disease-focused RT2 Profiler PCR Arrays including ALDH4A1: 

              Amino Acid Metabolism I in human mouse rat
              Drug Metabolism: Phase I Enzymes in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for ALDH4A1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for ALDH4A1 (P300381, 3 ENSP000002905974) via UniProtKB, MINT, STRING, and/or I2D (see all 52)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    UBCP0CG483, ENSP000003448184I2D: score=1 STRING: ENSP00000344818
    HSP90AA1P079003I2D: score=3 
    GRPEL1Q9HAV73I2D: score=1 
    PLCG1P191743I2D: score=1 
    PPP1CCP368733I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006560proline metabolic process TAS8621661
    GO:0006561proline biosynthetic process IEA--
    GO:0006562proline catabolic process TAS--
    GO:0008152metabolic process ----
    GO:0010133proline catabolic process to glutamate IEA--

    Find genes that share ontologies with ALDH4A1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for ALDH4A1 (AL4A1)

    Selected HMDB Compounds for ALDH4A1 (see all 12)    About this table
    CompoundSynonyms CAS #PubMed Ids
    1-Pyrroline-5-carboxylic acid(S)-1-pyrroline-5-carboxylate (see all 16)2906-39-0--
    4-Hydroxy-L-glutamic acid4-hydroxy-L-glutamate (see all 7)2485-33-8--
    FamotidineAmfamox (see all 83)76824-35-6--
    L-4-Hydroxyglutamate semialdehyde ----
    L-Glutamic acid(2S)-2-Aminopentanedioate (see all 49)56-86-0--
    L-Glutamic-gamma-semialdehydeL-glutamate gamma-semialdehyde (see all 6)496-92-4--
    NAD3-Carbamoyl-1-D-ribofuranosylpyridinium hydroxide 5'-ester with adenosine 5'-pyrophosphate (see all 28)53-84-9--
    NADH1,4-Dihydronicotinamide adenine dinucleotide (see all 17)58-68-4--
    NADPAdenine-nicotinamide dinucleotide phosphate (see all 18)53-59-8--
    NADPH2'-(dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) Adenosine 5'-ester with 1,4-dihydro-1-b-D-ribofuranosylnicotinamide (see all 23)53-57-6--

    1 DrugBank Compound for ALDH4A1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    NADHbeta-DPNH (see all 18)606-68-8target--16934832

    4 Novoseek inferred chemical compound relationships for ALDH4A1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    delta(1)pyrroline-5-carboxylate 95.7 15 8473341 (2), 8621661 (2), 18806117 (1), 20403182 (1) (see all 9)
    proline 72.3 10 8473341 (2), 8621661 (2), 14986171 (1), 16934832 (1) (see all 6)
    glutamate 33.5 3 20403182 (1), 18506409 (1), 16934832 (1)
    oxygen 0 1 14986171 (1)



    Find genes that share compounds with ALDH4A1           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for ALDH4A1 gene (3 alternative transcripts): 
    NM_001161504.1  NM_003748.3  NM_170726.2  

    Unigene Cluster for ALDH4A1:

    Aldehyde dehydrogenase 4 family, member A1
    Hs.77448  [show with all ESTs]
    Unigene Representative Sequence: NM_003748
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000290597 ENST00000375341(uc001bbb.3 uc001bbc.3 uc021ohl.1)
    ENST00000454547 ENST00000432718 ENST00000538839 ENST00000538309(uc010ocu.2)

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    SwitchGear 3'UTR luciferase reporter plasmidALDH4A1 3' UTR sequence
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    Additional mRNA sequence: 

    AK222486.1 AK289972.1 AK294552.1 BC007581.1 BC023600.2 FJ462711.1 U24266.1 U24267.1 

    12 DOTS entries:

    DT.447304  DT.100684300  DT.101984174  DT.100780395  DT.95277958  DT.121335877  DT.100679216  DT.100843318 
    DT.100722280  DT.100742055  DT.100780393  DT.121335857 

    Selected AceView cDNA sequences (see all 206):

    AI346540 CO400511 BQ083021 BX397598 BM664288 CD617448 CA397801 BM834527 
    BU509005 BX340573 BM857316 BC007581 AI268983 CD617447 AW571937 AA679563 
    BM827731 AA937730 CA433992 BC023600 BM666786 AL556283 BU501421 BM663173 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for ALDH4A1    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12a · 12b ^ 13 ^ 14 ^ 15 ^ 16
    SP1:                                                                    -                                                   
    SP2:                          -                                                                                             
    SP3:                                                                                                                        


    ECgene alternative splicing isoforms for ALDH4A1

    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    ALDH4A1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AGGGGCCGGG
    ALDH4A1 Expression
    About this image


    ALDH4A1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 10) fully expand
     
     Brain (Nervous System)    fully expand to see all 5 entries
             Cerebral Cortex
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Ovarian Mesenchymal Stroma Cells Ovary Interstitium
             Oviduct
     
     Neural Tube (Nervous System)    fully expand to see all 2 entries
             Metencephalon
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Kidney (Urinary System)
             Metanephros
    ALDH4A1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ALDH4A1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.77448

    UniProtKB/Swiss-Prot: AL4A1_HUMAN, P30038
    Tissue specificity: Highest expression is found in liver followed by skeletal muscle, kidney, heart, brain,
    placenta, lung and pancreas

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    (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)
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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for ALDH4A1 gene from Selected species (see all 20)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Aldh4a11 , 5 aldehyde dehydrogenase 4 family, member A11, 5 86.71(n)1
    91.81(a)1
      4 (70.79 cM)5
    2126471  NM_175438.41  NP_780647.31 
     1396228665 
    chicken
    (Gallus gallus)
    Aves ALDH4A11 aldehyde dehydrogenase 4 family, member A1 78.38(n)
    79.96(a)
      419467  NM_001252104.1  NP_001239033.1 
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia aldh4a11 aldehyde dehydrogenase 4 family, member A1 72.28(n)
    77.9(a)
      100124732  NM_001102714.1  NP_001096184.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc635922 similar to aldehyde dehydrogenase 4 family, member more 75.19(n)   394133  BC055155.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG71453
    P5CDh11
    1-pyrroline-5-carboxylate
    dehydrogenase3
    delta-1-Pyrroline-5-carboxylate dehydrogenase 11
    61(a)3
    64.4(n)1
    61.89(a)1
      78F43
    404341  NM_168945.51  NP_730698.11 
    worm
    (Caenorhabditis elegans)
    Secernentea alh-61 alh-6 56.77(n)
    54.5(a)
      173510  NM_061545.6  NP_493946.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes PUT2(YHR037W)4
    PUT21
    Delta-1-pyrroline-5-carboxylate dehydrogenase, nuclear-encoded more4
    PUT21
    46.03(n)1
    43.14(a)1
      8(181977-183704)4
    8564321, 4  NP_011902.11, 4 


    ENSEMBL Gene Tree for ALDH4A1 (if available)
    TreeFam Gene Tree for ALDH4A1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for ALDH4A1 (see all 966)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0022604
    Hyperprolinemia 2 (HP-2)4--see VAR_0022602 S L mis40--------
    rs1378529371,2
    C,Fpathogenic119413853(-) GTGCTC/TGCGTC 6 S L mis11Minor allele frequency- T:0.00NA 4212
    rs1393621651,2
    C--17450706(+) AGCCC-/GCT   
      GCTCTG
    GCTGC
    3 -- cds10--------
    rs1925518431,2
    --17450706(+) AAGCCC/GGCTGC 3 -- int10--------
    rs715759011,2
    C--17450713(+) TGCTCTGGCT   
      GCTC
    /-
    ATCAG
    3 -- cds11Minor allele frequency- -:0.50NA 2
    rs113118391,2
    C--19198682(+) AGCGGC/-CCCCC 3 -- ut31 int11Minor allele frequency- -:0.00NA 2
    rs351637261,2
    C--19201211(+) TGCTGG/-CCAGC 3 -- int11Minor allele frequency- -:0.00NA 2
    rs113208231,2
    C--19206745(+) GACCC-/GGGCGT 3 -- int11Minor allele frequency- G:0.00NA 2
    rs1133901091,2
    C--19206745(+) GACCCG/CGGCGT 3 -- int11Minor allele frequency- C:0.50CSA 2
    rs1125486381,2
    C--19208145(+) AGCAG-/GGT   
       TGCCT
    GTGAA
    3 -- int11Minor allele frequency- GGTTGCCT:0.50CSA 2

    HapMap Linkage Disequilibrium report for ALDH4A1 (19197924 - 19229293 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for ALDH4A1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv870906CNV Gain21882294

    Human Gene Mutation Database (HGMD): ALDH4A1
    Locus Specific Mutation Databases (LSDB): ALDH4A1

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 606811   
    OMIM disorders: 239510  
    UniProtKB/Swiss-Prot: AL4A1_HUMAN, P30038
  • Hyperprolinemia 2 (HP-2) [MIM:239510]: Characterized by the accumulation of
    delta-1-pyrroline-5-carboxylate (P5C) and proline. The disorder may be causally related to neurologic
    manifestations, including seizures and mental retardation. Note=The disease is caused by mutations affecting the
    gene represented in this entry

  • 3 diseases for ALDH4A1:    
    About MalaCards
    hyperprolinemia type 2    hyperprolinemia    succinic semialdehyde dehydrogenase deficiency

    1 disease from the University of Copenhagen DISEASES database for ALDH4A1:
    Succinic semialdehyde dehydrogenase deficiency

    Find genes that share disorders with ALDH4A1           About GenesLikeMe

    1 Novoseek inferred disease relationship for ALDH4A1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    hyperprolinemia, type ii 97 1 16934832 (1)

    Genetic Association Database (GAD): ALDH4A1
    Human Genome Epidemiology (HuGE) Navigator: ALDH4A1 (3 documents)

    Export disorders for ALDH4A1 gene to outside databases

    (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 ALDH4A1 gene, integrated from 10 sources (see all 36):
    (articles sorted by number of sources associating them with ALDH4A1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning, characterization, and expression of cDNAs encoding human delta 1-pyrroline-5-carboxylate dehydrogenase. (PubMed id 8621661)1, 2, 3, 9 Hu C.-A.... Valle D. (J. Biol. Chem. 1996)
    2. The three-dimensional structural basis of type II hyperprolinemia. (PubMed id 22516612)1, 2 Srivastava D....Tanner J.J. (J. Mol. Biol. 2012)
    3. A Large-scale genetic association study of esophageal adenocarcinoma risk. (PubMed id 20453000)1, 4 Liu C.Y....Christiani D.C. (Carcinogenesis 2010)
    4. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (PLoS ONE 2010)
    5. Genetic variants in TPMT and COMT are associated with hearing loss in children receiving cisplatin chemotherapy. (PubMed id 19898482)1, 4 Ross C.J....Hayden M.R. (Nat. Genet. 2009)
    6. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (Nature 2006)
    7. 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. (Genome Res. 2004)
    8. Mutations in the Delta1-pyrroline 5-carboxylate dehydrogenase gene cause type II hyperprolinemia. (PubMed id 9700195)1, 2 Geraghty M.T.... Hu C.-A.A. (Hum. Mol. Genet. 1998)
    9. Human liver protein map: a reference database established by microsequencing and gel comparison. (PubMed id 1286669)1, 2 Hochstrasser D.F.... Hughes G.J. (Electrophoresis 1992)
    10. Identification of ALDH4 as a p53-inducible gene and its protective role in cellular stresses. (PubMed id 14986171)1, 9 Yoon K.A....Arakawa H. (J. Hum. Genet. 2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 8659 HGNC: 406 AceView: ALDH4A1 Ensembl:ENSG00000159423 euGenes: HUgn8659
    ECgene: ALDH4A1 Kegg: 8659 H-InvDB: ALDH4A1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for ALDH4A1 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=ALDH4A1[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for ALDH4A1 gene:
    Search GeneIP for patents involving ALDH4A1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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