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ALDH18A1 Gene

protein-coding   GIFtS: 65
GCID: GC10M097355

Aldehyde Dehydrogenase 18 Family, Member A1

(Previous name: pyrroline-5-carboxylate synthetase (glutamate gamma-semialdehyde...)
(Previous symbols: GSAS, PYCS)
  See ALDH18A1-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 18 Family, Member A11 2     Delta-1-Pyrroline-5-Carboxylate Synthase2
GSAS1 2 3 5     Delta-1-Pyrroline-5-Carboxylate Synthetase2
PYCS1 2 3 5     Delta1-Pyrroline-5-Carboxlate Synthetase2
Pyrroline-5-Carboxylate Synthetase (Glutamate Gamma-Semialdehyde
Synthetase)1 2
     EC 1.2.1.418
Aldehyde Dehydrogenase Family 18 Member A12 3     EC 2.1.2.118
P5CS2 3     EC 2.3.3.138
ARCL3A2 5     

External Ids:    HGNC: 97221   Entrez Gene: 58322   Ensembl: ENSG000000595737   OMIM: 1382505   UniProtKB: P548863   

Export aliases for ALDH18A1 gene to outside databases

Previous GC identifer: GC10M090993


(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 ALDH18A1 Gene:
This gene is a member of the aldehyde dehydrogenase family and encodes a bifunctional ATP- and NADPH-dependent
mitochondrial enzyme with both gamma-glutamyl kinase and gamma-glutamyl phosphate reductase activities. The
encoded protein catalyzes the reduction of glutamate to delta1-pyrroline-5-carboxylate, a critical step in the de
novo biosynthesis of proline, ornithine and arginine. Mutations in this gene lead to hyperammonemia,
hypoornithinemia, hypocitrullinemia, hypoargininemia and hypoprolinemia and may be associated with
neurodegeneration, cataracts and connective tissue diseases. Alternatively spliced transcript variants, encoding
different isoforms, have been described for this gene. (provided by RefSeq, Jul 2008)

GeneCards Summary for ALDH18A1 Gene:
ALDH18A1 (aldehyde dehydrogenase 18 family, member A1) is a protein-coding gene. Diseases associated with ALDH18A1 include aldh18a1-related cutis laxa, and cutis laxa, autosomal recessive, type iiia. GO annotations related to this gene include glutamate-5-semialdehyde dehydrogenase activity and glutamate 5-kinase activity.

UniProtKB/Swiss-Prot: P5CS_HUMAN, P54886
Function: Bifunctional enzyme that converts glutamate to glutamate 5-semialdehyde, an intermediate in the
biosynthesis of proline, ornithine and arginine

Gene Wiki entry for ALDH18A1 (Aldehyde dehydrogenase 18 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_000010.10  NT_030059.14  NC_018921.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the ALDH18A1 gene promoter:
         USF1   USF2   USF-1:USF-2   Nkx2-5   CREB   deltaCREB   USF-1   IRF-7A   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidALDH18A1 promoter sequence
   Search Chromatin IP Primers for ALDH18A1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ALDH18A1


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

Entrez Gene cytogenetic band: 10q24.3   Ensembl cytogenetic band:  10q24.1   HGNC cytogenetic band: 10q24.3-q24.6

ALDH18A1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ALDH18A1 gene location

GeneLoc information about chromosome 10         GeneLoc Exon Structure

GeneLoc location for GC10M097355:  view genomic region     (about GC identifiers)

Start:
97,365,686 bp from pter      End:
97,416,567 bp from pter
Size:
50,882 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: P5CS_HUMAN, P54886 (See protein sequence)
Recommended Name: Delta-1-pyrroline-5-carboxylate synthase  
Size: 795 amino acids; 87302 Da
Sequence caution: Sequence=BAH12086.1; Type=Erroneous initiation; Sequence=BAH13064.1; Type=Erroneous initiation;
1 PDB 3D structure from and Proteopedia for ALDH18A1:
2H5G (3D)    
Secondary accessions: B2R5Q4 B7Z350 B7Z5X8 B7ZLP1 D3DR44 O95952 Q3KQU2 Q5T566 Q5T567 Q9UM72
Alternative splicing: 2 isoforms:  P54886-1   P54886-2   

Explore the universe of human proteins at neXtProt for ALDH18A1: NX_P54886

Explore proteomics data for ALDH18A1 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys662, Lys761
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for ALDH18A1 (P54886) (see all 10)
     STRFSDG  LKGGKEA  GIPVMGH  DLIIPRG 


    See ALDH18A1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001017423.1  NP_002851.2  

    ENSEMBL proteins: 
     ENSP00000360268   ENSP00000360265  

    ALDH18A1 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 10):
     IPR001057 Glu/AcGlu_kinase
     IPR001048 Asp/Glu/Uridylate_kinase
     IPR019797 Glutamate_5-kinase_CS
     IPR020593 G-glutamylP_reductase_CS
     IPR016163 Ald_DH_C

    Graphical View of Domain Structure for InterPro Entry P54886

    ProtoNet protein and cluster: P54886

    2 Blocks protein domains:
    IPB000965 Gamma-glutamyl phosphate reductase GPR
    IPB001057 Glutamate 5-kinase


    UniProtKB/Swiss-Prot: P5CS_HUMAN, P54886
    Similarity: In the N-terminal section; belongs to the glutamate 5-kinase family
    Similarity: In the C-terminal section; belongs to the gamma-glutamyl phosphate reductase family


    Find genes that share domains with ALDH18A1           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: P5CS_HUMAN, P54886
    Function: Bifunctional enzyme that converts glutamate to glutamate 5-semialdehyde, an intermediate in the
    biosynthesis of proline, ornithine and arginine
    Catalytic activity: ATP + L-glutamate = ADP + L-glutamate 5-phosphate
    Catalytic activity: L-glutamate 5-semialdehyde + phosphate + NADP(+) = L-glutamyl 5-phosphate + NADPH
    Enzyme regulation: Isoform Short is inhibited by L-ornithine with a Ki of approximately 0.25 mm. Isoform Long is
    insensitive to ornithine inhibition. This is due to the two amino acid insert which abolishes feedback inhibition
    of P5CS activity by L-ornithine

         Enzyme Numbers (IUBMB): EC 2.1.2.112 EC 1.2.1.412 EC 2.3.3.132

         Gene Ontology (GO): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity ----
    GO:0004349glutamate 5-kinase activity IDA11092761
    GO:0004350glutamate-5-semialdehyde dehydrogenase activity IDA11092761
    GO:0005524ATP binding IEA--
    GO:0016491oxidoreductase activity ----
         
    Find genes that share ontologies with ALDH18A1           About GenesLikeMe


    Phenotypes:
         2 GenomeRNAi human phenotypes for ALDH18A1:
     Increased cell death HMECs cel  Upregulation of Wnt/beta-caten 

         3 MGI mutant phenotypes (inferred from 1 allele(MGI details for Aldh18a1):
     cellular  mortality/aging  vision/eye 

    Find genes that share phenotypes with ALDH18A1           About GenesLikeMe

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ALDH18A1
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ALDH18A1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ALDH18A1

    miRNA
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    miRTarBase miRNAs that target ALDH18A1:
    hsa-mir-20a-5p (MIRT050486), hsa-mir-124-3p (MIRT022930), hsa-mir-744-5p (MIRT037662), hsa-mir-16-5p (MIRT031825)

    Block miRNA regulation of human, mouse, rat ALDH18A1 using miScript Target Protectors
    7 qRT-PCR Assays for microRNAs that regulate ALDH18A1:
    hsa-miR-498 hsa-miR-3673 hsa-miR-3119 hsa-miR-616* hsa-miR-4282 hsa-miR-373* hsa-miR-548l
    SwitchGear 3'UTR luciferase reporter plasmidALDH18A1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat ALDH18A1

    Gene Editing
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    Clone
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    Addgene plasmids for ALDH18A1 

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ALDH18A1


    (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
    P5CS_HUMAN, P54886: Mitochondrion inner membrane
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion5
    cytosol3
    nucleus1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA--
    GO:0005739mitochondrion IDA--
    GO:0005743mitochondrial inner membrane TAS--

    Find genes that share ontologies with ALDH18A1           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 ALDH18A1 About    
    See pathways by source

    SuperPathContained pathways About
    1Arginine and proline metabolism
    Arginine and proline metabolism
    citrulline biosynthesis0.00
    superpathway of citrulline metabolism0.00
    proline biosynthesis I0.00
    Urea cycle and metabolism of amino groups0.00
    2Metabolism
    Metabolism0.38
    Metabolic pathways0.38
    3Metabolism of amino acids and derivatives
    Metabolism of amino acids and derivatives
    Amino acid synthesis and interconversion (transamination)0.00
    4Carbon metabolism
    Biosynthesis of amino acids0.38


    Find genes that share SuperPaths with ALDH18A1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    4 BioSystems Pathways for ALDH18A1
        citrulline biosynthesis
    Urea cycle and metabolism of amino groups
    proline biosynthesis I
    superpathway of citrulline metabolism



    3 Kegg Pathways  (Kegg details for ALDH18A1):
        Arginine and proline metabolism
    Metabolic pathways
    Biosynthesis of amino acids

    UniProtKB/Swiss-Prot: P5CS_HUMAN, P54886
    Pathway: Amino-acid biosynthesis; L-proline biosynthesis; L-glutamate 5-semialdehyde from L-glutamate: step 1/2
    Pathway: Amino-acid biosynthesis; L-proline biosynthesis; L-glutamate 5-semialdehyde from L-glutamate: step 2/2

        Pathway & Disease-focused RT2 Profiler PCR Array including ALDH18A1: 

              Amino Acid Metabolism I in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for ALDH18A1

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

    Selected Interacting proteins for ALDH18A1 (P548862, 3 ENSP000003602684) via UniProtKB, MINT, STRING, and/or I2D (see all 397)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PUS1Q9Y6062, 3MINT-8079030 I2D: score=1 
    UQCRFS1P479852, 3MINT-8079030 I2D: score=1 
    OATP041812, 3, ENSP000003578384MINT-8079030 I2D: score=1 STRING: ENSP00000357838
    ICT1Q141972, 3, ENSP000003015854MINT-8079030 I2D: score=1 STRING: ENSP00000301585
    MYCP011063, ENSP000003672074I2D: score=3 STRING: ENSP00000367207
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006536glutamate metabolic process IMP11092761
    GO:0006561proline biosynthetic process IMP11092761
    GO:0006592ornithine biosynthetic process IMP11092761
    GO:0008152metabolic process ----
    GO:0008652cellular amino acid biosynthetic process TAS--

    Find genes that share ontologies with ALDH18A1           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 ALDH18A1 (P5CS)

    10 HMDB Compounds for ALDH18A1    About this table
    CompoundSynonyms CAS #PubMed Ids
    ADPadenosindiphosphorsaeure (see all 8)58-64-0--
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--
    FamotidineAmfamox (see all 83)76824-35-6--
    L-Glutamic acid(2S)-2-Aminopentanedioate (see all 49)56-86-0--
    L-Glutamic acid 5-phosphateL-Glutamic acid 5-phosphate (see all 8)13254-53-0--
    L-Glutamic-gamma-semialdehydeL-glutamate gamma-semialdehyde (see all 6)496-92-4--
    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--
    Ornithine(+)-S-Ornithine (see all 9)70-26-8--
    PhosphateNFB Orthophosphate (see all 13)14265-44-2--

    1 DrugBank Compound for ALDH18A1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    L-Glutamic Acid(2S)-2-Aminopentanedioic acid (see all 15)56-86-0target--12513997 17139284 9622938 114173 17016423

    9 Novoseek inferred chemical compound relationships for ALDH18A1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    delta(1)pyrroline-5-carboxylate 97.7 38 8761662 (2), 18478038 (2), 9351242 (1), 10037775 (1) (see all 18)
    gamma-glutamyl phosphate 95.3 9 10037775 (1), 8761662 (1), 19606467 (1), 20091669 (1)
    proline 78.8 33 8761662 (4), 19850488 (3), 9351242 (2), 12602867 (2) (see all 14)
    ornithine 67.7 8 10037775 (3), 15517380 (2), 18401542 (1), 11092761 (1) (see all 5)
    citrulline 59.5 1 8761662 (1)
    abscisic acid 58.7 1 17971042 (1)
    glutamate 45.5 13 10037775 (1), 9622938 (1), 18401542 (1), 8761662 (1) (see all 8)
    atp 35.4 7 10037775 (1), 9622938 (1), 18401542 (1), 8761662 (1) (see all 6)
    arginine 24.9 3 18401542 (1), 15517380 (1), 11092761 (1)



    Find genes that share compounds with ALDH18A1           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 ALDH18A1 gene (2 alternative transcripts): 
    NM_001017423.1  NM_002860.3  

    Unigene Cluster for ALDH18A1:

    Aldehyde dehydrogenase 18 family, member A1
    Hs.500645  [show with all ESTs]
    Unigene Representative Sequence: NM_002860
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000371224(uc001kky.3 uc001kkz.3 uc010qog.2 uc010qoh.2)
    ENST00000371221 ENST00000485428 ENST00000489386 ENST00000483788
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    hsa-miR-498 hsa-miR-3673 hsa-miR-3119 hsa-miR-616* hsa-miR-4282 hsa-miR-373* hsa-miR-548l
    SwitchGear 3'UTR luciferase reporter plasmidALDH18A1 3' UTR sequence
    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector (see all 2): ALDH18A1 (NM_001017423)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ALDH18A1
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      QuantiTect SYBR Green Assays in human, mouse, rat ALDH18A1
      QuantiFast Probe-based Assays in human, mouse, rat ALDH18A1

    Additional mRNA sequence: 

    AK225455.1 AK225465.1 AK226032.1 AK295487.1 AK299557.1 AK312271.1 BC106054.1 BC117240.1 
    BC117242.1 BC143930.1 U68758.1 U76542.1 X94453.1 

    15 DOTS entries:

    DT.446840  DT.100773958  DT.101974781  DT.86849373  DT.121300484  DT.100790734  DT.121300462  DT.100733591 
    DT.121300475  DT.91764871  DT.100790732  DT.100790741  DT.121300487  DT.91668230  DT.97812791 

    Selected AceView cDNA sequences (see all 310):

    AA909766 CN485058 AL038417 AV660113 AW338189 CR604316 BQ021133 BI493995 
    AI744619 AI304449 AI925266 BI771087 AW242605 AL528152 BM467787 BQ021668 
    BQ218017 AI284961 AA313669 AA599781 BG560818 BF432988 BU616562 CB216248 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for ALDH18A1 (see all 8)    About this scheme

    ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b · 6c ^ 7a · 7b ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14a · 14b ^ 15 ^ 16 ^
    SP1:                          -                                                                 -                                         -                     
    SP2:                                                                                            -                                         -                     
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                            
    SP5:                          -                 -     -     -                                                                                                   

    ExUns: 17 ^ 18 ^ 19 ^ 20a · 20b
    SP1:              -               
    SP2:              -               
    SP3:                              
    SP4:                              
    SP5:                              


    ECgene alternative splicing isoforms for ALDH18A1

    (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)
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    ALDH18A1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TAGTCATCTT
    ALDH18A1 Expression
    About this image


    ALDH18A1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 7) fully expand
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Metencephalon
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Cerebral Cortex
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Pancreas (Endocrine System)
             Islets of Langerhans
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
    ALDH18A1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ALDH18A1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.500645
        Pathway & Disease-focused RT2 Profiler PCR Array including ALDH18A1: 
              Amino Acid Metabolism I in human mouse rat

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ALDH18A1

    (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 eukaryotes.

    Orthologs for ALDH18A1 gene from Selected species (see all 23)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Aldh18a11 , 5 aldehyde dehydrogenase 18 family, member A11, 5 87.89(n)1
    95.71(a)1
      19 (34.25 cM)5
    564541  NM_019698.21  NP_062672.21 
     405502575 
    chicken
    (Gallus gallus)
    Aves ALDH18A11 aldehyde dehydrogenase 18 family, member A1 80.6(n)
    93.25(a)
      423976  XM_004942381.1  XP_004942438.1 
    lizard
    (Anolis carolinensis)
    Reptilia ALDH18A16
    aldehyde dehydrogenase 18 family, member A1
    91(a)
    1 ↔ 1
    3(38004797-38021238)
    African clawed frog
    (Xenopus laevis)
    Amphibia BU911930.12   -- 77.37(n)    BU911930.1 
    zebrafish
    (Danio rerio)
    Actinopterygii pycs2 pyrroline-5-carboxylate synthetase (glutamate gamma-semialdehyde more 75(n)   327391  57063878 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG74701 CG7470 59.41(n)
    59.59(a)
      40443  NM_001259948.2  NP_001246877.1 
    worm
    (Caenorhabditis elegans)
    Secernentea alh-131 alh-13 56.53(n)
    56.96(a)
      181417  NM_077731.3  NP_510132.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes PRO2(YOR323C)4 Gamma-glutamyl phosphate reductase, catalyzes the second more   --   15(922905-921535) 854501  NP_014968.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons P5CS21 P5CS2 52.58(n)
    49.65(a)
      824727  NM_115419.4  NP_191120.2 
    rice
    (Oryza sativa)
    Liliopsida AK102633.12   -- 73.36(n)    AK102633.1 


    ENSEMBL Gene Tree for ALDH18A1 (if available)
    TreeFam Gene Tree for ALDH18A1 (if available)

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

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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)
    About This Section

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    Selected SNPs for ALDH18A1 (see all 1168)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 10 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0384824
    Cutis laxa, autosomal recessive, 3A (ARCL3A)4--see VAR_0384822 R Q mis40--------
    VAR_0580064
    Cutis laxa, autosomal recessive, 3A (ARCL3A)4--see VAR_0580062 H Y mis40--------
    rs1137313301,2
    F--90999271(+) GAAACC/TCCGTC 2 -- int12Minor allele frequency- T:0.50CSA 4
    rs2014989901,2
    C--91010891(+) TCTTTC/TTCTTT 2 -- int10--------
    rs1138962851,2
    C--91019242(+) AAAAAA/CAACAA 2 -- int10--------
    rs2012583061,2
    --91027703(+) TTTTC-/AATATGA 2 -- int10--------
    rs106250121,2
    C,F--91028582(+) GCACCAG/-TCACA 2 -- int12Minor allele frequency- -:0.50NA CSA 4
    rs339251471,2
    C--91028584(+) CACCT-/AGCACAC 2 -- int10--------
    rs2010121471,2
    --91042595(+) AATTT-/TTCT  
      TTATTA
    TTATT
    2 -- int10--------
    rs1476620601,2
    C--91042599(+) TTTCT-/TTATTATT 2 -- int10--------

    HapMap Linkage Disequilibrium report for ALDH18A1 (97365686 - 97416567 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for ALDH18A1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv526180CNV Gain19592680

    Human Gene Mutation Database (HGMD): ALDH18A1
    1 Site Specific Mutation Identification with PCR Assay for ALDH18A1:
    Cosmic IdAA Change
    141304p.A119T
    SeqTarget long-range PCR primers for resequencing ALDH18A1
    DNA2.0 Custom Variant and Variant Library Synthesis for ALDH18A1

    (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

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    OMIM gene information: 138250   
    OMIM disorders: 219150  
    UniProtKB/Swiss-Prot: P5CS_HUMAN, P54886
  • Cutis laxa, autosomal recessive, 3A (ARCL3A) [MIM:219150]: A syndrome characterized by facial dysmorphism
    with a progeroid appearance, large and late-closing fontanel, cutis laxa, joint hyperlaxity, athetoid movements
    and hyperreflexia, pre- and postnatal growth retardation, intellectual deficit, developmental delay, and
    ophthalmologic abnormalities. Note=The disease is caused by mutations affecting the gene represented in this
    entry

  • 4 diseases for ALDH18A1:    
    About MalaCards
    aldh18a1-related cutis laxa    cutis laxa, autosomal recessive, type iiia    multiple mitochondrial dysfunctions syndrome 1    pathological gambling

    2 diseases from the University of Copenhagen DISEASES database for ALDH18A1:
    Cutis laxa     Pathological gambling

    Find genes that share disorders with ALDH18A1           About GenesLikeMe

    5 Novoseek inferred disease relationships for ALDH18A1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    hyperammonemia 71.5 1 8761662 (1)
    cataract subcapsular 67.4 1 11092761 (1)
    mental retardation 46.4 1 8761662 (1)
    cataract 45.5 5 8761662 (1), 18478038 (1), 11092761 (1)
    neurodegeneration 38.7 5 11092761 (2), 18478038 (1)

    Genetic Association Database (GAD): ALDH18A1
    Human Genome Epidemiology (HuGE) Navigator: ALDH18A1 (6 documents)

    Export disorders for ALDH18A1 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 ALDH18A1 gene, integrated from 10 sources (see all 60):
    (articles sorted by number of sources associating them with ALDH18A1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A missense mutation in ALDH18A1, encoding Delta1-pyrroline-5- carboxylate synthase (P5CS), causes an autosomal recessive neurocutaneous syndrome. (PubMed id 18478038)1, 2, 9 Bicknell L.S....Robertson S.P. (Eur. J. Hum. Genet. 2008)
    2. Database cloning human delta 1-pyrroline-5-carboxylate synthetase (P5CS) cDNA: a bifunctional enzyme catalyzing the first 2 steps in proline biosynthesis. (PubMed id 8761662)1, 2, 9 Aral B.... Kamoun P. (C. R. Acad. Sci. III, Sci. Vie 1996)
    3. Molecular enzymology of mammalian delta1-pyrroline-5-carboxylate synthase. Alternative splice donor utilization generates isoforms with different sensitivity to ornithine inhibition. (PubMed id 10037775)1, 2, 9 Hu C.A.... Valle D. (J. Biol. Chem. 1999)
    4. Hyperammonemia with reduced ornithine, citrulline, arginine and proline: a new inborn error caused by a mutation in the gene encoding delta(1)-pyrroline-5-carboxylate synthase. (PubMed id 11092761)1, 2, 9 Baumgartner M.R.... Valle D. (Hum. Mol. Genet. 2000)
    5. Assignment of the human gene encoding the delta 1-pyrroline-5-carboxylate synthetase (P5CS) to 10q24.3 by in situ hybridization. (PubMed id 8921385)1, 3, 9 Liu G....Aral B. (Genomics 1996)
    6. MicroRNA-related genetic variations as predictors for risk of second primary tumor and/or recurrence in patients with early-stage head and neck cancer. (PubMed id 20819778)1, 4 Zhang X....Wu X. (Carcinogenesis 2010)
    7. 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)
    8. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    9. A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. (PubMed id 16385451)1, 4 Grupe A....Goate A. (Am. J. Hum. Genet. 2006)
    10. 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)

    (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: 5832 HGNC: 9722 AceView: ALDH18A1 Ensembl:ENSG00000059573 euGenes: HUgn5832
    ECgene: ALDH18A1 Kegg: 5832 H-InvDB: ALDH18A1

    (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)
    About This Section

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    NameDescription
    PharmGKB entry for ALDH18A1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for ALDH18A1 gene:
    Search GeneIP for patents involving ALDH18A1

    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, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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