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

ALDH16A1 Gene

protein-coding   GIFtS: 51
GCID: GC19P049958

Aldehyde Dehydrogenase 16 Family, Member A1

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

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

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, and paraplegia. GO annotations related to this gene include oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor. An important paralog of this gene is ALDH5A1.

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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000019.9  NC_018930.2  NT_011109.16  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for ALDH16A1

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

UniProtKB/Swiss-Prot: 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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q8IZ83

  • ALDH16A1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    ALDH16A1 Protein Expression
    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)
    About This Section
    HGNC Gene Families: 
    ALDH: Aldehyde dehydrogenases

    5 InterPro protein domains:
     IPR016162 Ald_DH_N
     IPR016163 Ald_DH_C
     IPR011408 Aldehyde_DH
     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


    ALDH16A1 for domains           About GeneDecksing


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

         Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    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--
         
    ALDH16A1 for ontologies           About GeneDecksing


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

         3 MGI mutant phenotypes (inferred from 1 allele(MGI details for Aldh16a1):
     homeostasis/metabolism  pigmentation  vision/eye 

    ALDH16A1 for phenotypes           About GeneDecksing

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



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ALDH16A1

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

    5/13 Interacting proteins for ALDH16A1 (Q8IZ833 ENSP000002933504) via UniProtKB, MINT, STRING, and/or I2D (see all 13)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PAAF1Q9BRP43, ENSP000003116654I2D: score=2 STRING: ENSP00000311665
    USP1O947823, ENSP000003435264I2D: score=2 STRING: ENSP00000343526
    SKP1P632083, ENSP000002314874I2D: score=1 STRING: ENSP00000231487
    ALBP027683I2D: score=1 
    BHMTQ930883I2D: score=1 
    About this table

    Gene Ontology (GO): 2 biological process terms (GO ID links to tree view):    About this table

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

    ALDH16A1 for ontologies           About GeneDecksing



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

    Browse Tocris compounds for ALDH16A1 (A16A1)

    Search CenterWatch for drugs/clinical trials and news about 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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

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

    Unigene Cluster for ALDH16A1:

    Aldehyde dehydrogenase 16 family, member A1
    Hs.719998  [show with all ESTs]
    Unigene Representative Sequence: NM_153329
    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
    miRNA
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    Additional mRNA sequence: 

    AK297101.1 AK298587.1 AY007096.1 BC014895.2 BC035641.1 BC042142.1 

    11 DOTS entries:

    DT.428958  DT.100777795  DT.121505525  DT.95172250  DT.91756896  DT.100692034  DT.100713157  DT.121505496 
    DT.97806234  DT.100825023  DT.92417514 

    9 AceView cDNA sequences:

    CR602601 CR608888 AY007096 AK074136 BC035641 BC042142 NM_153329 AK024182 
    BC014895 

    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™, 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

    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


    See ALDH16A1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ALDH16A1

    SOURCE GeneReport for Unigene cluster: Hs.719998
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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 chordates.

    Orthologs for ALDH16A1 gene from 3/10 species (see all 10)    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)
    zebrafish
    (Danio rerio)
    Actinopterygii aldh16a11 aldehyde dehydrogenase 16 family, member A1 46.63(n)
    36.61(a)
      492710  NM_001079954.1  NP_001073423.1 


    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)
    About This Section
    Paralogs for ALDH16A1 gene
    ALDH5A12  
    1 SIMAP similar gene for ALDH16A1 using alignment to 5 protein entries:     A16A1_HUMAN (see all proteins):
    ALDH8A1

    ALDH16A1 for paralogs           About GeneDecksing



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

    10/658 SNPs in ALDH16A1 are shown (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) 10/14 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
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 613358    OMIM disorders: --

    4 diseases for ALDH16A1:    About MalaCards
    mast syndrome    paraplegia    spasticity    tuberculosis

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

    ALDH16A1 for disorders           About GeneDecksing

    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)
    About This Section

    PubMed articles for ALDH16A1 gene, integrated from 9 sources (see all 22):
    (articles sorted by number of sources associating them with ALDH16A1)
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    1. Interaction of the SPG21 protein ACP33/maspardin with the aldehyde dehydrogenase ALDH16A1. (PubMed id 19184135)1, 2 Hanna M.C. and Blackstone C. (2009)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    3. ALDH16A1 is a novel non-catalytic enzyme that may be i nvolved in the etiology of gout via protein-protein interactions with HPRT1. (PubMed id 23348497)1 Vasiliou V....Thompson D.C. (2013)
    4. Methods for quantification of in vivo changes in prote in ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (2012)
    5. Functional dissection of lysine deacetylases reveals t hat HDAC1 and p300 regulate AMPK. (PubMed id 22318606)1 Lin Y.Y....Boeke J.D. (2012)
    6. A high-throughput approach for measuring temporal chan ges in the interactome. (PubMed id 22863883)1 Kristensen A.R....Foster L.J. (2012)
    7. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    8. A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)
    9. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
    10. Ubiquitin ligase substrate identification through qua ntitative proteomics at both the protein and peptide levels. (PubMed id 21987572)1 Lee K.A....Doedens J.R. (2011)

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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    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, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for ALDH16A1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for ALDH16A1 gene:
    Search GeneIP for patents involving ALDH16A1

    GeneCards and IP:
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