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

    Gene ID: 126133, updated on 23-Nov-2021

    Summary

    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
    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
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    Genomic context

    See ALDH16A1 in Genome Data Viewer
    Location:
    19q13.33
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    109.20211119 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (49453225..49471050)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (49956482..49974307)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene solute carrier family 17 member 7 Neighboring gene PIH1 domain containing 1 Neighboring gene fms related receptor tyrosine kinase 3 ligand Neighboring gene ribosomal protein L13a Neighboring gene small nucleolar RNA, C/D box 32A

    Genomic regions, transcripts, and products

    Expression

    • 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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • MGC10204

    General protein information

    Preferred Names
    aldehyde dehydrogenase family 16 member A1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001145396.2NP_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:19441
      ALDH-SF; NAD(P)+-dependent aldehyde dehydrogenase superfamily
    2. NM_153329.4NP_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
      Q8IZ83
      Related
      ENSP00000293350.3, ENST00000293350.9
      Conserved Domains (1) summary
      cl11961
      Location:19492
      ALDH-SF; NAD(P)+-dependent aldehyde dehydrogenase superfamily

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p13 Primary Assembly

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

    mRNA and Protein(s)

    1. XM_011526441.1XP_011524743.1  aldehyde dehydrogenase family 16 member A1 isoform X1

      See identical proteins and their annotated locations for XP_011524743.1

      Related
      ENSP00000445088.1, ENST00000540132.5
      Conserved Domains (1) summary
      cl11961
      Location:2463
      ALDH-SF; NAD(P)+-dependent aldehyde dehydrogenase superfamily
    2. XM_011526442.1XP_011524744.1  aldehyde dehydrogenase family 16 member A1 isoform X2

      See identical proteins and their annotated locations for XP_011524744.1

      Conserved Domains (1) summary
      cl11961
      Location:2463
      ALDH-SF; NAD(P)+-dependent aldehyde dehydrogenase superfamily
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