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

    Gene ID: 126133, updated on 10-Dec-2024

    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; 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
    NEW
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    Try the new Transcript table

    Genomic context

    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

    Expression

    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

    Interactions

    General gene information

    Clone Names

    • MGC10204

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    located_in membrane PubMed 

    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_001145396.2 → 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
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