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

ALDH4A1 Gene

protein-coding   GIFtS: 64
GCID: GC01M019197

aldehyde dehydrogenase 4 family, member A1


(Previous symbol: ALDH4)
 Explore 8 diseases affiliated with
ALDH4A1 via our new
 Human Malady Compendium 
Biological research products
for ALDH4A1
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Aldehyde Dehydrogenase 4 Family, Member A11 2     EC 1.5.1.123 8
ALDH41 2 3 5     P5CDH3 5
P5CDh1 2     P5CD2
Aldehyde Dehydrogenase Family 4 Member A12 3     Delta-1-Pyrroline-5-Carboxylate Dehydrogenase, Mitochondrial2
P5C Dehydrogenase2 3     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:
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)

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)


(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_000001.10  NC_018912.1  NT_004610.19  
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 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: 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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • 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 MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    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
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    Uscn Proteins for ALDH4A1

    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 InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    ALDH4A1 for domains           About GeneDecksing

    5/6 InterPro domains/families (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 family: IPB002086 Aldehyde dehydrogenase

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


    (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: 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

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    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


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


    (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 - 5/6 super-pathways (see all 6About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1proline degradation
    proline degradation1.00
    Proline catabolism0.50
    4-hydroxyproline degradation I1.00
    2Metabolism
    Metabolism1.00
    Metabolic pathways0.38
    3Metabolism of amino acids and derivatives
    Metabolism of amino acids and derivatives1.00
    4Arginine and proline metabolism
    Arginine and proline metabolism1.00
    5Alanine, aspartate and glutamate metabolism
    Alanine, aspartate and glutamate metabolism1.00

    Pathway sources
    See GeneCards unified pathways
    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): 5/7 biological process terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006560proline metabolic process TAS8621661
    GO:0006561proline biosynthetic process IEA--
    GO:0006562proline catabolic process TAS--
    GO:0010133proline catabolic process to glutamate IEA--
    GO:00194704-hydroxyproline catabolic process TAS--


    ALDH4A1 for ontologies           About GeneDecksing



    (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

    ALDH4A1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for ALDH4A1

    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 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 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,
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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 cDNA 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):

    BX397598 BM827731 BM666786 CD617447 AA937730 AI346540 CA397801 BC007581 
    BQ083021 BM663173 BG769561 BM834527 BM767132 BQ053821 CA433992 AI268983 
    CD617448 AW571937 BQ954843 BC023600 BU509005 BM664288 AA679563 BM857316 

    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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: AGGGGCCGGG

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    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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              Drug Metabolism: Phase I Enzymes in human mouse rat

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    In Situ
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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 5/28 species (see all 28)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    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, 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

    10/757 NCBI SNPs in ALDH4A1 are shown (see all 757    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1378529371,2
    C,Fpathogenic17448181(-) GTGCTC/TGCGTC 6 S L mis11Minor allele frequency- T:0.00NA 4212
    rs1121515221,2
    --17441671(+) GCCTAA/TCTCGG 3 -- ds50011Minor allele frequency- T:0.00CSA 1
    rs775664551,2
    C,--17441713(+) NNNNCG/ACACCC 3 -- ds50012Minor allele frequency- A:0.06WA NA 122
    rs673664861,2
    C,F,--17441740(+) NNNNTG/AAATCA 3 -- ds50017Minor allele frequency- A:0.18NA WA CSA EA 365
    rs412731691,2
    C,--17442093(+) CCACCA/CCTGTG 3 -- ds50012Minor allele frequency- C:0.05CSA EA 121
    rs11383331,2
    C,F,A,H,--17442240(-) AGGATA/CTGTGT 3 -- ut3127Minor allele frequency- C:0.20MN NA NS EA WA CSA 2969
    rs11383281,2
    C,F,--17442276(-) TGCCAG/CCTGGG 3 -- ut31 ese39Minor allele frequency- C:0.20MN NA WA 434
    rs73665411,2
    C,F,--17442317(+) GCACTT/CGGGGA 3 -- ut31 ese37Minor allele frequency- C:0.25NA WA CSA 247
    rs74191351,2
    C,--17442318(+) CACTTC/GGGGAA 3 -- ut31 ese30--------
    rs765259961,2
    F,--17442475(+) GAATCG/ATGGTC 3 -- int1 ut311Minor allele frequency- A:0.06WA 118

    HapMap Linkage Disequilibrium report for ALDH4A1 (19197924 - 19229293 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for ALDH4A1: --
    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, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    ALDH4A1 for disorders           About GeneDecksing

    OMIM gene information: 606811   
    OMIM disorders: 239510  
    UniProtKB/Swiss-Prot: AL4A1_HUMAN, P30038
  • Defects in ALDH4A1 are the cause of hyperprolinemia type 2 (HP-2) [MIM:239510]. HP-2 is 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

    8 diseases for ALDH4A1:    About MalaCards
    hyperprolinemia    hyperprolinemia type 2    hearing loss    acne
    esophagitis    tuberculosis    adenocarcinoma    mycobacterium tuberculosis

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

    1 Novoseek 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)

    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 32):
    (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. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (2006)
    4. 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)
    5. 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)
    6. 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)
    7. 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)
    8. Crystal structure of Thermus thermophilus Delta1-pyrroline-5-carboxylate dehydrogenase. (PubMed id 16934832)7, 9 Inagaki E....Tahirov T.H. (2006)
    9. Human liver high Km aldehyde dehydrogenase (ALDH4): properties and structural relationship to the glutamic gamma-semialdehyde dehydrogenase. (PubMed id 8493898)2, 9 Agarwal D.P.... Goedde H.W. (1993)
    10. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)

    (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



    (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),
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