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ALDH16A1 Gene

protein-coding   GIFtS: 50
GCID: GC19P049958

Aldehyde Dehydrogenase 16 Family, Member A1

  See ALDH16A1-related disease
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 16 Family, Member A11 2
Aldehyde Dehydrogenase Family 16 Member A12

External Ids:    HGNC: 281141   Entrez Gene: 1261332   Ensembl: ENSG000001616187   OMIM: 6133585   UniProtKB: Q8IZ833   

Export aliases for ALDH16A1 gene to outside databases

Previous GC identifers: GC19P054649 GC19P046333


(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 ALDH16A1 Gene:
This gene encodes a member of the aldehyde dehydrogenase superfamily. The family members act on aldehyde
substrates and use nicotinamide adenine dinucleotide phosphate (NADP) as a cofactor. This gene is conserved in
chimpanzee, dog, cow, mouse, rat, and zebrafish. The protein encoded by this gene interacts with maspardin, a
protein that when truncated is responsible for Mast syndrome. Alternatively spliced transcript variants encoding
different isoforms have been found for this gene. (provided by RefSeq, Apr 2010)

GeneCards Summary for ALDH16A1 Gene:
ALDH16A1 (aldehyde dehydrogenase 16 family, member A1) is a protein-coding gene. Diseases associated with ALDH16A1 include mast syndrome. GO annotations related to this gene include oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor.

Gene Wiki entry for ALDH16A1 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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Regulatory elements:
   Regulatory transcription factor binding sites in the ALDH16A1 gene promoter:
         C/EBPbeta   Pax-5   Tal-1beta   MZF-1   CREB   CP2   deltaCREB   HOXA5   MRF-2   ITF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidALDH16A1 promoter sequence
   Search Chromatin IP Primers for ALDH16A1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ALDH16A1


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

Entrez Gene cytogenetic band: 19q13.33   Ensembl cytogenetic band:  19q13.33   HGNC cytogenetic band: 19q13.33

ALDH16A1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ALDH16A1 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19P049958:  view genomic region     (about GC identifiers)

Start:
49,956,426 bp from pter      End:
49,974,305 bp from pter
Size:
17,880 bases      Orientation:
plus 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: A16A1_HUMAN, Q8IZ83 (See protein sequence)
Recommended Name: Aldehyde dehydrogenase family 16 member A1  
Size: 802 amino acids; 85127 Da
Subunit: Interacts with SPG21
Caution: The active site cysteine and glutamate residues are not conserved in this protein. Its activity is
therefore unsure
Sequence caution: Sequence=AAH35641.1; Type=Erroneous initiation; Sequence=BAB84962.1; Type=Erroneous translation;
Note=Wrong choice of frame;
Secondary accessions: B4DLQ1 C9JBH6 Q86YF0 Q8IYL4 Q8TEI8
Alternative splicing: 3 isoforms:  Q8IZ83-1   Q8IZ83-2   Q8IZ83-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for ALDH16A1: NX_Q8IZ83

Explore proteomics data for ALDH16A1 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys91, Lys245, Lys413, Lys499, Lys564
  • Modification sites at PhosphoSitePlus

  • See ALDH16A1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001138868.1  NP_699160.2  

    ENSEMBL proteins: 
     ENSP00000293350   ENSP00000445088   ENSP00000410142   ENSP00000470160   ENSP00000469507  
     ENSP00000398675  

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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

    5 InterPro protein domains:
     IPR016163 Ald_DH_C
     IPR011408 Aldehyde_DH
     IPR016162 Ald_DH_N
     IPR016161 Ald_DH/histidinol_DH
     IPR015590 Aldehyde_DH_dom

    Graphical View of Domain Structure for InterPro Entry Q8IZ83

    ProtoNet protein and cluster: Q8IZ83

    UniProtKB/Swiss-Prot: A16A1_HUMAN, Q8IZ83
    Similarity: Belongs to the aldehyde dehydrogenase family


    Find genes that share domains with ALDH16A1           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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         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016491oxidoreductase activity ----
    GO:0016620oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor IEA--
         
    Find genes that share ontologies with ALDH16A1           About GenesLikeMe


    Phenotypes:
         3 GenomeRNAi human phenotypes for ALDH16A1:
     Decreased homologous recombina  G0/1 arrest  Increased G1 DNA content 

         5 MGI mutant phenotypes (inferred from 1 allele(MGI details for Aldh16a1):
     endocrine/exocrine gland  homeostasis/metabolism  integument  pigmentation  vision/eye 

    Find genes that share phenotypes with ALDH16A1           About GenesLikeMe

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ALDH16A1
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    hsa-mir-1247-5p (MIRT035869), hsa-mir-186-5p (MIRT045250)

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    (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 COMPARTMENTS: 

    CompartmentConfidence
    cytosol1
    endosome1
    peroxisome1
    plasma membrane1

    (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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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for ALDH16A1
    Interactions:

        Search GeneGlobe Interaction Network for ALDH16A1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 7)

    Selected Interacting proteins for ALDH16A1 (Q8IZ833 ENSP000002933504) via UniProtKB, MINT, STRING, and/or I2D (see all 16)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PAAF1Q9BRP43, ENSP000003116654I2D: score=2 STRING: ENSP00000311665
    USP1O947823, ENSP000003435264I2D: score=2 STRING: ENSP00000343526
    ALBP027683I2D: score=1 
    BHMTQ930883I2D: score=1 
    GBASO753233I2D: score=1 
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    Gene Ontology (GO): 2 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008152metabolic process ----
    GO:0055114oxidation-reduction process ----

    Find genes that share ontologies with ALDH16A1           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 ALDH16A1 (A16A1)



    (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 ALDH16A1 gene (2 alternative transcripts): 
    NM_001145396.1  NM_153329.3  

    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000293350(uc002pnt.3 uc010yas.2 uc010yat.2) ENST00000540132
    ENST00000599652 ENST00000455361(uc010yar.2) ENST00000593417 ENST00000598015
    ENST00000600265 ENST00000594549 ENST00000433981
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    9 AceView cDNA sequences:

    CR602601 AY007096 CR608888 NM_153329 BC042142 BC014895 AK024182 AK074136 
    BC035641 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for ALDH16A1    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11a · 11b · 11c ^ 12 ^ 13a · 13b ^ 14 ^ 15 ^ 16a · 16b ^ 17
    SP1:                                                                                                                                                
    SP2:                                                                                                              -                                 
    SP3:                                      -     -                                                                                                   
    SP4:                                                  -     -                                                                                       


    ECgene alternative splicing isoforms for ALDH16A1

    (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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    ALDH16A1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCCCCAGAAT
    ALDH16A1 Expression
    About this image

    ALDH16A1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ALDH16A1 Protein Expression
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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)
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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for ALDH16A1 gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Aldh16a11 , 5 aldehyde dehydrogenase 16 family, member A11, 5 80.84(n)1
    81.67(a)1
      7 (29.15 cM)5
    697481  NM_145954.11  NP_666066.11 
     451406845 
    lizard
    (Anolis carolinensis)
    Reptilia ALDH16A16
    aldehyde dehydrogenase 16 family, member A1
    28(a)
    1 ↔ 1
    GL343355.1(334941-373089)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia aldh16a11 aldehyde dehydrogenase 16 family, member A1 52.48(n)
    46.18(a)
      733905  NM_001045624.1  NP_001039089.1 
    zebrafish
    (Danio rerio)
    Actinopterygii aldh16a11 aldehyde dehydrogenase 16 family, member A1 46.86(n)
    36.93(a)
      492710  NM_001079954.2  NP_001073423.2 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes ALD36
    ALD26
    Cytoplasmic aldehyde dehydrogenase, involved in be...
    Cytoplasmic aldehyde dehydrogenase, involved in et...
    25(a)
    25(a)
    many → 1
    many → 1
    XIII(599352-600872) YMR169C
    XIII(601562-603082) YMR170C


    ENSEMBL Gene Tree for ALDH16A1 (if available)
    TreeFam Gene Tree for ALDH16A1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ALDH16A1 gene
    1 SIMAP similar gene for ALDH16A1 using alignment to 5 protein entries:     A16A1_HUMAN (see all proteins):
    ALDH8A1

    Find genes that share paralogs with ALDH16A1           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for ALDH16A1 (see all 658)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs46226221,2
    H--49957257(+) CATCAG/AGACTT 2 -- int14Minor allele frequency- A:0.00NS EA 420
    rs58283991,2
    C--49957281(+) Gtttt-/GTG/TTG
    T
    /TTTTGTG
    ttttt
    4 -- int1 cds1 trp31NA 2
    rs23351841,2
    F--49957286(+) TTTTTG/TTGTTT 2 -- int1 trp31Minor allele frequency- T:0.50NA 2
    rs23351851,2
    C--49957288(+) tttttG/Tttttt 2 -- int1 trp30--------
    rs285208111,2
    C--49957288(+) TTTTTG/TTTTTT 2 -- int11Minor allele frequency- T:0.50WA 2
    rs3716871461,2
    C--49957288(+) ttttg-/TTT/TTT
    TT
    /TTTTTTT
    ttttt
    4 -- int1 cds10--------
    rs30335551,2
    C--49957299(+) ttttt-/TTTTT 
    /TTTTTTT
    gagcc
    2 -- int11NA 2
    rs37606711,2
    C,F--49957500(+) GTCTCC/GAACTC 2 -- int18Minor allele frequency- G:0.20NA WA CSA 15
    rs169812761,2
    C,F,H--49957606(+) ACTTAT/CGGCCC 2 -- int119Minor allele frequency- C:0.05NA NS EA WA 1876
    rs129775171,2
    C,F,H--49957637(+) CTCCTA/C/GTGATC 2 -- int17NS EA NA 516

    HapMap Linkage Disequilibrium report for ALDH16A1 (49956426 - 49974305 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for ALDH16A1 (see all 14):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv1213251CNV Deletion17803354
    esv2674843CNV Deletion23128226
    esv2718721CNV Deletion23290073
    esv1432834CNV Insertion17803354
    esv1526018CNV Insertion17803354
    esv1208352CNV Insertion17803354
    nsv2518CNV Insertion18451855
    dgv52n68CNV Loss17160897
    nsv912262CNV Loss21882294
    nsv912261CNV Loss21882294

    Human Gene Mutation Database (HGMD): ALDH16A1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ALDH16A1
    DNA2.0 Custom Variant and Variant Library Synthesis for ALDH16A1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 613358    OMIM disorders: --

    1 disease for ALDH16A1:    
    About MalaCards
    mast syndrome

    1 disease from the University of Copenhagen DISEASES database for ALDH16A1:
    Gout

    Find genes that share disorders with ALDH16A1           About GenesLikeMe

    Human Genome Epidemiology (HuGE) Navigator: ALDH16A1 (1 document)

    Export disorders for ALDH16A1 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 ALDH16A1 gene, integrated from 10 sources (see all 22):
    (articles sorted by number of sources associating them with ALDH16A1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Interaction of the SPG21 protein ACP33/maspardin with the aldehyde dehydrogenase ALDH16A1. (PubMed id 19184135)1, 2 Hanna M.C. and Blackstone C. (Neurogenetics 2009)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    3. ALDH16A1 is a novel non-catalytic enzyme that may be involved in the etiology of gout via protein-protein interactions with HPRT1. (PubMed id 23348497)1 Vasiliou V....Thompson D.C. (Chem. Biol. Interact. 2013)
    4. Pathway Analysis of ChIP-Seq-Based NRF1 Target Genes Suggests a Logical Hypothesis of their Involvement in the Pathogenesis of Neurodegenerative Diseases. (PubMed id 24250222)1 Satoh J....Yamamoto Y. (Gene Regul Syst Bio 2013)
    5. Methods for quantification of in vivo changes in protein ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (amp 2012)
    6. A high-throughput approach for measuring temporal changes in the interactome. (PubMed id 22863883)1 Kristensen A.R....Foster L.J. (Nat. Methods 2012)
    7. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (BMC Syst. Biol. 2011)
    8. A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (amp 2011)
    9. Systematic and quantitative assessment of the ubiquitin-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (Mol. Cell 2011)
    10. Ubiquitin ligase substrate identification through quantitative proteomics at both the protein and peptide levels. (PubMed id 21987572)1 Lee K.A....Doedens J.R. (J. Biol. Chem. 2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 126133 HGNC: 28114 AceView: MGC10204 Ensembl:ENSG00000161618 euGenes: HUgn126133
    ECgene: ALDH16A1 H-InvDB: ALDH16A1

    (According to HUGE)
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    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for ALDH16A1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
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    IP news from LifeMap Sciences, Inc.)
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    Patent Information for ALDH16A1 gene:
    Search GeneIP for patents involving ALDH16A1

    GeneCards and IP:
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