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

ALDH18A1 Gene

protein-coding   GIFtS: 61
GCID: GC10M097355

aldehyde dehydrogenase 18 family, member A1

(Previous name: pyrroline-5-carboxylate synthetase (glutamate gamma-semialdehyde...)
(Previous symbols: GSAS, PYCS)
 Explore 14 diseases affiliated with
ALDH18A1 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for ALDH18A1    

Aliases
for ALDH18A1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Aldehyde Dehydrogenase 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
P5CS1 2 3     EC 1.2.1.418
Pyrroline-5-Carboxylate Synthetase (Glutamate Gamma-Semialdehyde Synthetase)1 2     EC 2.1.2.118
Aldehyde Dehydrogenase Family 18 Member A12 3     EC 2.3.3.138
ARCL3A2     

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


Summaries
for ALDH18A1 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for ALDH18A1:
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)

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)


Genomic Views
for ALDH18A1 gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000010.10  NC_018921.1  NT_030059.13  
Regulatory elements:
   SABiosciences 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 plasmid: ALDH18A1 promoter sequence
   Search SABiosciences Chromatin IP Primers for ALDH18A1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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

Proteins
for ALDH18A1 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: P5CS_HUMAN, P54886 (See protein sequence)
Recommended Name: Delta-1-pyrroline-5-carboxylate synthase  
Size: 795 amino acids; 87302 Da
Subcellular location: Mitochondrion inner membrane
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P54886

    • 4/10 DME Specific Peptides for ALDH18A1 (P54886) (see all 10)
     STRFSDG  LKGGKEA  GIPVMGH  DLIIPRG 

    ALDH18A1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

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

    ENSEMBL proteins: 
     ENSP00000360268   ENSP00000360265  
    Reactome Protein details: P54886
    Human Recombinant Protein Products: 
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    Novus Biologicals ALDH18A1 Protein
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    Uscn Proteins for ALDH18A1

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

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


    ALDH18A1 for ontologies           About GeneDecksing



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    Protein Domains /
    Families
    for ALDH18A1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    ALDH18A1 for domains           About GeneDecksing

    5/10 InterPro domains/families (see all 10):
     IPR001057 Glu/AcGlu_kinase
     IPR001048 Asp/Glu/Uridylate_kinase
     IPR019797 Glutamate_5-kinase_CS
     IPR016162 Ald_DH_N
     IPR020593 G-glutamylP_reductase_CS

    Graphical View of Domain Structure for InterPro Entry P54886

    ProtoNet protein and cluster: P54886

    2 Blocks protein families:
    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


    Function
    for ALDH18A1 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: 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

    miRNA
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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
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    Inhib. RNA
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    Gene Editing
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    Clone
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    In Situ Assay
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    Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004349glutamate 5-kinase activity IDA11092761
    GO:0004350glutamate-5-semialdehyde dehydrogenase activity IDA11092761
    GO:0005524ATP binding IEA--


    ALDH18A1 for ontologies           About GeneDecksing


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

    Animal Models:
         1 MGI mutant phenotype (inferred from 1 allele) (MGI details for Aldh18a1):
     mortality/aging 

    ALDH18A1 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for ALDH18A1 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

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

    Super-pathwaycontained gene-specific pathways
    1superpathway of citrulline metabolism
    		superpathway of citrulline metabolism1.00
    		citrulline biosynthesis0.53
    2Arginine and proline metabolism
    		Arginine and proline metabolism1.00
    		Urea cycle and metabolism of amino groups0.36
    3Metabolism
    		Metabolism1.00
    		Metabolic pathways0.38
    4Amino acid synthesis and interconversion (transamination)
    		Amino acid synthesis and interconversion (transamination)1.00
    5Metabolism of amino acids and derivatives
    		Metabolism of amino acids and derivatives1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


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

    3        Reactome Pathways for ALDH18A1
        Metabolism
    Amino acid synthesis and interconversion (transamination)
    Metabolism of amino acids and derivatives


    2         Kegg Pathways  (Kegg details for ALDH18A1):
        Arginine and proline metabolism
    Metabolic pathways

    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


    ALDH18A1 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ALDH18A1

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

    5/313 Interacting proteins for ALDH18A1 (P548862, 3 ENSP000003602684) via UniProtKB, MINT, STRING, and/or I2D (see all 313)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    PUS1Q9Y6062, 3MINT-8079030 I2D: score=1 
    UQCRFS1P479852, 3MINT-8079030 I2D: score=1 
    ICT1Q141972, 3, ENSP000003015854MINT-8079030 I2D: score=1 STRING: ENSP00000301585
    OATP041812, 3, ENSP000003578384MINT-8079030 I2D: score=1 STRING: ENSP00000357838
    MYCP011063, ENSP000003672074I2D: score=3 STRING: ENSP00000367207
    About this table

    Gene Ontology (GO): 5/8 biological process terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006536glutamate metabolic process IMP11092761
    GO:0006561proline biosynthetic process IMP11092761
    GO:0006592ornithine biosynthetic process IMP11092761
    GO:0008652cellular amino acid biosynthetic process TAS--
    GO:0019240citrulline biosynthetic process IMP11092761


    ALDH18A1 for ontologies           About GeneDecksing



    Drugs & Compounds
    for ALDH18A1 gene

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

    ALDH18A1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for ALDH18A1

    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 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)

    Search CenterWatch for drugs/clinical trials and news about ALDH18A1 / P5CS 

    Transcripts
    for ALDH18A1 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    About This Section
    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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    Inhib. RNA
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    Clone
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    Primer
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    Additional cDNA 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 

    24/310 AceView cDNA sequences (see all 310):

    AW242605 AI925266 CR604316 AL528152 BX400895 AI308938 AI887715 BE019630 
    BM467787 AI304449 AI695120 AA599781 CA941227 BI771087 BQ021133 CN482449 
    BI493995 BM827639 AI559156 AI348178 AI744619 AI803147 AA577150 BM723843 

    GeneLoc Exon Structure

    5/8 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

    Expression
    for ALDH18A1 gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    ALDH18A1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TAGTCATCTT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image
    See ALDH18A1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ALDH18A1

    SOURCE GeneReport for Unigene cluster: Hs.500645
        SABiosciences Expression via Pathway-Focused PCR Array including ALDH18A1: 
              Amino Acid Metabolism I in human mouse rat

    Primer
    Products:    		 OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for ALDH18A1
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    In Situ
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    Orthologs
    for ALDH18A1 gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section
    This gene was present in the last universal common ancestor (LUCA).

    Orthologs for ALDH18A1 gene from 11/38 species (see all 38)    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 80.55(n)
    93.24(a)    		   423976  XM_003641534.1  XP_003641582.1 
    lizard
    (Anolis carolinensis)    		 Reptilia ALDH18A16
    		 --
    		 92(a)
    		 1 ↔ 1
    		 3(38006117-38017899)
    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_141118.4  NP_649375.1 
    worm
    (Caenorhabditis elegans)    		 Secernentea alh-131 Protein ALH-13 56.53(n)
    56.96(a)    		   181417  NM_077731.2  NP_510132.1 
    baker's yeast
    (Saccharomyces cerevisiae)    		 Saccharomycetes PRO2(YOR323C)4
    PRO21    		 Gamma-glutamyl phosphate reductase, catalyzes the second more4
    Pro2p1    		 49.8(n)1
    44.18(a)1    		   15(922905-921535)4
    8545011, 4  NP_014968.11, 4 
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons P5CS21 Gamma-glutamyl phosphate reductase 52.65(n)
    49.43(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
    for ALDH18A1 gene

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

    Genomic Variants
    for ALDH18A1 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/926 NCBI SNPs in ALDH18A1 are shown (see all 926)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 10 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs111883941,2
    		C,F,H,--90993168(+) ACTTTT/CAGTCT 2 -- ds500113Minor allele frequency- C:0.16NA NS EA 806
    rs79177921,2
    		C,F,A,--90993337(+) GGGCAC/TGAGGG 2 -- ds50017Minor allele frequency- T:0.18NA WA EA 366
    rs40371,2
    		C,F,O,A,H,--90993530(+) TTCAAG/ACATCA 2 -- ut3124Minor allele frequency- A:0.17MN NA NS EA CSA WA 2668
    rs412915621,2
    		C,F,--90993618(+) CATCAC/TGNNNN 2 -- ut311Minor allele frequency- T:0.03NA 120
    rs87581,2
    		C,F,A,H,--90993817(-) NNNNGT/CAGTCA 2 -- ut31 ese315Minor allele frequency- C:0.31MN NA CSA WA EA 789
    rs780537741,2
    		C,F,--90993937(+) TCCTCG/ACCTTT 2 -- ut311Minor allele frequency- A:0.02WA 118
    rs124123691,2
    		H--90994641(+) TTCTGT/CATTTT 2 -- int14Minor allele frequency- C:0.00NS EA 386
    rs111883961,2
    		C,F,H,--90995219(+) gacacG/Actggg 2 -- int19Minor allele frequency- A:0.09NS EA NA WA 746
    rs1121946071,2
    		C,F,--90995522(+) AGAATG/AAAGTG 2 -- int14Minor allele frequency- A:0.08WA CSA EA 242
    rs115917791,2
    		C,F,A,H,--90996405(+) ggtgcA/Ggtctc 2 -- int16Minor allele frequency- G:0.42NA CSA 12

    HapMap Linkage Disequilibrium report for ALDH18A1 (97365686 - 97416567 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for ALDH18A1: --
    Human Gene Mutation Database (HGMD): ALDH18A1

    1 SABiosciences Cancer Mutation PCR Assay for ALDH18A1:
    Cosmic IdAA Change
    141304p.A119T
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ALDH18A1
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    Disorders / Diseases
    for ALDH18A1 gene

    (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
    ALDH18A1 for disorders           About GeneDecksing

    OMIM gene information: 138250   
    OMIM disorders: 612652  
    UniProtKB/Swiss-Prot: P5CS_HUMAN, P54886
  • Defects in ALDH18A1 are the cause of cutis laxa, autosomal recessive, type 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

    14 diseases for ALDH18A1:    About MalaCards
    mental retardation, joint hypermobility and skin laxity, with or without metabolic abnormalities    hyperammonemia with hypoornithinemia    cataract    neurodegeneration
    cutis laxa    pathological gambling    gastroesophageal reflux disease    connective tissue disease
    microcephaly    alzheimer's disease    dementia    pneumonia
    tuberculosis    mycobacterium tuberculosis

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

    5 Novoseek 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)

    Human Genome Epidemiology (HuGE) Navigator: ALDH18A1 (6 documents)

    Export disorders for ALDH18A1 gene to outside databases

    Publications
    for ALDH18A1 gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for ALDH18A1 gene, integrated from 9 sources (see all 57):
    (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. (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. (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. (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. (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. (1996)
    6. 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)
    7. The DNA sequence and comparative analysis of human chromosome 10. (PubMed id 15164054)1, 2 Deloukas P.... Rogers J. (2004)
    8. Human Delta1-pyrroline-5-carboxylate synthase: function and regulation. (PubMed id 18401542)1, 9 Hu C.A....Valle D. (2008)
    9. Delta1-pyrroline-5-carboxylate synthase deficiency: neurodegeneration, cataracts and connective tissue manifestations combined with hyperammonaemia and reduced ornithine, citrulline, arginine and proline. (PubMed id 15517380)1, 9 Baumgartner M.R....Saudubray J.M. (2005)
    10. [A new inherited metabolic disease: delta1-pyrroline 5-carboxylate synthetase deficiency] (PubMed id 9622938)7, 9 Kamoun P....Saudubray J.M. (1998)

    External Searches for ALDH18A1 gene

    (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)

    Genome Databases showing ALDH18A1 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 5832 HGNC: 9722 AceView: ALDH18A1 Ensembl:ENSG00000059573 euGenes: HUgn5832
    ECgene: ALDH18A1 Kegg: 5832 H-InvDB: ALDH18A1

    Other Databases showing ALDH18A1 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing ALDH18A1 gene

    (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 ALDH18A1 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for ALDH18A1 gene

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



    Products
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