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

Gene ID: 126133, updated on 14-Nov-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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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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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

    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

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

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

Gene LinkOut

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