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    ALDH16A1 aldehyde dehydrogenase 16 family member A1 [ Homo sapiens (human) ]

    Gene ID: 126133, updated on 9-Dec-2024

    Summary

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    Official Symbol
    ALDH16A1provided by HGNC
    Official Full Name
    aldehyde dehydrogenase 16 family member A1provided by HGNC
    Primary source
    HGNC:HGNC:28114
    See related
    Ensembl:ENSG00000161618 MIM:613358; AllianceGenome:HGNC:28114
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    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]
    Expression
    Ubiquitous expression in spleen (RPKM 10.1), duodenum (RPKM 6.6) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ALDH16A1 in Genome Data Viewer
    Location:
    19q13.33
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (49453225..49471050)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (52450669..52471023)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (49956482..49974307)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 4016 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:49935289-49935861 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:49935862-49936433 Neighboring gene solute carrier family 17 member 7 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14938 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10915 Neighboring gene PIH1 domain containing 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:49954699-49955377 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:49957075-49958034 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14941 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10916 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10917 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14942 Neighboring gene fms related receptor tyrosine kinase 3 ligand Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14943 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:49990841-49991445 Neighboring gene ribosomal protein L13a Neighboring gene small nucleolar RNA, C/D box 32A

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Interaction of the SPG21 protein ACP33/maspardin with the aldehyde dehydrogenase ALDH16A1. Hanna MC, et al. Neurogenetics, 2009 Jul. PMID 19184135, Free PMC Article
    2. ALDH16A1 is a novel non-catalytic enzyme that may be involved in the etiology of gout via protein-protein interactions with HPRT1. Vasiliou V, et al. Chem Biol Interact, 2013 Feb 25. PMID 23348497, Free PMC Article
    3. Endogenous human MDM2-C is highly expressed in human cancers and functions as a p53-independent growth activator. Okoro DR, et al. PLoS One, 2013. PMID 24147044, Free PMC Article
    4. LncRNAs-directed PTEN enzymatic switch governs epithelial-mesenchymal transition. Hu Q, et al. Cell Res, 2019 Apr. PMID 30631154, Free PMC Article
    5. CYLD Regulates Centriolar Satellites Proteostasis by Counteracting the E3 Ligase MIB1. Douanne T, et al. Cell Rep, 2019 May 7. PMID 31067453

    See all (48) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Both the short and long forms of human ALDH16A1 protein would lack catalytic activity.
      Title: ALDH16A1 is a novel non-catalytic enzyme that may be involved in the etiology of gout via protein-protein interactions with HPRT1.
    2. Data report that maspardin localizes prominently to cytoplasm as well as to membranes, possibly at trans-Golgi network/late endosomal compartments, and that maspardin interacts with the aldehyde dehydrogenase ALDH16A1.
      Title: Interaction of the SPG21 protein ACP33/maspardin with the aldehyde dehydrogenase ALDH16A1.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC10204

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables aldehyde dehydrogenase (NAD+) activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in membrane HDA PubMed 

    General protein information

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    Preferred Names
    aldehyde dehydrogenase family 16 member A1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_012747.1 RefSeqGene

      Range
      5010..22835
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001145396.2 → NP_001138868.1  aldehyde dehydrogenase family 16 member A1 isoform 2

      See identical proteins and their annotated locations for NP_001138868.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an exon in the coding region compared to variant 1 and remains in-frame. The encoded isoform (2) is shorter compared to isoform 1.
      Source sequence(s)
      AC010619, AK297101, AY007096, DA629821
      Consensus CDS
      CCDS46141.1
      UniProtKB/Swiss-Prot
      Q8IZ83
      Related
      ENSP00000410142.1, ENST00000455361.6
      Conserved Domains (1) summary
      cl11961
      Location:19 → 441
      ALDH-SF; NAD(P)+-dependent aldehyde dehydrogenase superfamily

    2. NM_153329.4 → NP_699160.2  aldehyde dehydrogenase family 16 member A1 isoform 1

      See identical proteins and their annotated locations for NP_699160.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC010619, AK297101, AY007096, BC014895, DA629821, DC364604
      Consensus CDS
      CCDS12766.1
      UniProtKB/Swiss-Prot
      B4DLQ1, C9JBH6, Q86YF0, Q8IYL4, Q8IZ83, Q8TEI8
      Related
      ENSP00000293350.3, ENST00000293350.9
      Conserved Domains (1) summary
      cl11961
      Location:19 → 492
      ALDH-SF; NAD(P)+-dependent aldehyde dehydrogenase superfamily

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      49453225..49471050
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047438163.1 → XP_047294119.1  aldehyde dehydrogenase family 16 member A1 isoform X1

      UniProtKB/TrEMBL
      B4DVV1
      Related
      ENSP00000445088.1, ENST00000540132.5

    2. XM_011526441.1 → XP_011524743.1  aldehyde dehydrogenase family 16 member A1 isoform X2

      See identical proteins and their annotated locations for XP_011524743.1

      UniProtKB/TrEMBL
      B4DVV1
      Conserved Domains (1) summary
      cl11961
      Location:2 → 463
      ALDH-SF; NAD(P)+-dependent aldehyde dehydrogenase superfamily

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      52450669..52471023
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054319785.1 → XP_054175760.1  aldehyde dehydrogenase family 16 member A1 isoform X1

      UniProtKB/TrEMBL
      B4DVV1

    2. XM_054319786.1 → XP_054175761.1  aldehyde dehydrogenase family 16 member A1 isoform X2

      UniProtKB/TrEMBL
      B4DVV1
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8IZ83.2 GenPept UniProtKB/Swiss-Prot:Q8IZ83

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    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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