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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

ALDH4A1 Gene

protein-coding   GIFtS: 68
GCID: GC01M019197

Aldehyde Dehydrogenase 4 Family, Member A1


(Previous symbol: ALDH4)
  See 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)
About This Section

Aliases
Aldehyde Dehydrogenase 4 Family, Member A11 2     P5CDH3 5
ALDH41 2 3 5     P5CD2
Aldehyde Dehydrogenase Family 4 Member A12 3     P5CDh2
P5C Dehydrogenase2 3     Delta-1-Pyrroline-5-Carboxylate Dehydrogenase, Mitochondrial2
EC 1.5.1.123 8     Mitochondrial Delta-1-Pyrroline 5-Carboxylate Dehydrogenase2

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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, and among its related super-pathways are proline degradation and Metabolic pathways. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NT_004610.19  NC_018912.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for ALDH4A1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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
Subcellular location: Mitochondrion matrix
3 PDB 3D structures from and Proteopedia for ALDH4A1:
3V9G (3D)        3V9H (3D)        3V9I (3D)    
Secondary accessions: A8K1Q7 B4DGE4 Q16882 Q53HU4 Q5JNV6 Q8IZ38 Q96IF0 Q9UDI6
Alternative splicing: 2 isoforms:  P30038-1   P30038-2   

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

Explore proteomics data for ALDH4A1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P30038

  • 4/17 DME Specific Peptides for ALDH4A1 (P30038) (see all 17)
     PFNFTAI  TFFSAVID  VAKFCYADK  WLEHARSSP 

    ALDH4A1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    ALDH4A1 Protein Expression
    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
    Human Recombinant Protein Products for ALDH4A1: 
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    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

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

    ALDH4A1 for ontologies           About GeneDecksing



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

    5/6 InterPro protein domains (see all 6):
     IPR016162 Ald_DH_N
     IPR016163 Ald_DH_C
     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


    ALDH4A1 for domains           About GeneDecksing


    (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,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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: (S)-1-pyrroline-5-carboxylate + NAD(P)(+) + 2 H(2)O = L-glutamate + NAD(P)H
    Biophysicochemical properties: Kinetic parameters: KM=100 uM for NAD; KM=32 uM for L-pyrroline-5-carboxylate;

         Enzyme Number (IUBMB): EC 1.5.1.121 2

         Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6):    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:0016620oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor ----
         
    ALDH4A1 for ontologies           About GeneDecksing


    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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    SwitchGear 3'UTR luciferase reporter plasmidALDH4A1 3' UTR sequence
    Inhib. RNA
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    (Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for ALDH4A1 About   (see all 6)                                                                                              See pathways by source

    SuperPathContained pathways About
    1proline degradation
    proline degradation0.50
    4-hydroxyproline degradation I0.50
    Proline catabolism0.50
    2Metabolism
    Metabolism0.40
    Metabolic pathways0.40
    3proline biosynthesis II (from arginine)
    arginine degradation I (arginase pathway)0.40
    4Arginine and proline metabolism
    Arginine and proline metabolism0.35
    5Metabolism of amino acids and derivatives
    Metabolism of amino acids and derivatives

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


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


    3        Reactome Pathways for ALDH4A1
        Proline catabolism
    Metabolism
    Metabolism of amino acids and derivatives


    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


    ALDH4A1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for ALDH4A1

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

    5/51 Interacting proteins for ALDH4A1 (P300381, 3 ENSP000002905974) via UniProtKB, MINT, STRING, and/or I2D (see all 51)

    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): 5/9 biological process terms (GO ID links to tree view) (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--

    ALDH4A1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    ALDH4A1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for ALDH4A1 (AL4A1)

    10/12 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)

    Search CenterWatch for drugs/clinical trials and news about ALDH4A1 / AL4A1

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    About This Section

    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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    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 

    24/206 AceView cDNA sequences (see all 206):

    BU501421 BG769561 BC007581 BM827731 AA679563 BU509005 BX397598 AW571937 
    AA937730 BC023600 BX340573 AI346540 CD617448 BQ954843 BM664288 BM663173 
    BM666786 BM857316 CA433992 BQ053821 CD617447 BQ083021 BM767132 AI268983 

    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™, 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

    ALDH4A1 expression in normal human tissues (normalized intensities)      ALDH4A1 embryonic expression: see
    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 
     5/38 selected tissues (see all 38) fully expand
     
     Brain (Nervous System)    fully expand to see all 8 entries
             Cerebral Cortex
             Human Astrocytes   
             brain/midbrain   
     
     Epithelium (Reproductive System)    fully expand to see all 5 entries
             vagina ; squamous epithelial cells   
     
     Lung (Respiratory System)    fully expand to see all 4 entries
             Trachea
             lung ; pneumocytes   
     
     Uterus
             uterus, post-menopause ; glandular cells   
     
     Heart (Cardiovascular System)    fully expand to see all 3 entries
             heart muscle ; myocytes   
             heart/atrium   

    See ALDH4A1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ALDH4A1

    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

        SABiosciences Expression via Pathway-Focused PCR Arrays including ALDH4A1: 
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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)
    About This Section

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

    Orthologs for ALDH4A1 gene from 6/19 species (see all 19)    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 
    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_168945.41  NP_730698.11 
    worm
    (Caenorhabditis elegans)
    Secernentea alh-61 Protein ALH-6 57.83(n)
    56.2(a)
      173510  NM_061545.5  NP_493946.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes PUT2(YHR037W)4
    PUT21
    Delta-1-pyrroline-5-carboxylate dehydrogenase, nuclear-encoded more4
    Put2p1
    46.28(n)1
    43.94(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)
    About This Section
      --

    (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) 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

    10/966 SNPs in ALDH4A1 are shown (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
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    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

  • 10 diseases for ALDH4A1:    About MalaCards
    hyperprolinemia type 2    hyperprolinemia    succinic semialdehyde dehydrogenase deficiency    acne
    esophageal adenocarcinoma    mental retardation    tuberculosis    esophagitis
    adenocarcinoma    gastric cancer

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

    ALDH4A1 for disorders           About GeneDecksing

    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)
    About This Section

    PubMed articles for ALDH4A1 gene, integrated from 9 sources (see all 34):
    (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. (1996)
    2. The three-dimensional structural basis of type II hype rprolinemia. (PubMed id 22516612)1, 2 Srivastava D....Tanner J.J. (2012)
    3. A Large-scale genetic association study of esophageal adenocarcinoma risk. (PubMed id 20453000)1, 4 Liu C.Y....Christiani D.C. (2010)
    4. Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (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. (2009)
    6. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (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. (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. (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. (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. (2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 8659 HGNC: 406 AceView: ALDH4A1 Ensembl:ENSG00000159423 euGenes: HUgn8659
    ECgene: ALDH4A1 Kegg: 8659 H-InvDB: ALDH4A1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for ALDH4A1 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ALDH4A1

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    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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