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

Gene ID: 126133, updated on 2-Oct-2018

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; Vega:OTTHUMG00000183163
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

Genomic context

See ALDH16A1 in Genome Data Viewer
Location:
19q13.33
Exon count:
19
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 19 NC_000019.10 (49453216..49471050)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (49956473..49974305)

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 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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC10204

Gene Ontology Provided by GOA

Process Evidence Code Pubs
oxidation-reduction process IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
membrane HDA PubMed 

General protein information

Preferred Names
aldehyde dehydrogenase family 16 member A1

NCBI Reference Sequences (RefSeq)

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
    5001..22833
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001145396.1NP_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)
    AK297101, AY007096, DA629821
    Consensus CDS
    CCDS46141.1
    UniProtKB/Swiss-Prot
    Q8IZ83
    Related
    ENSP00000410142.1, OTTHUMP00000271019, ENST00000455361.6, OTTHUMT00000465361
    Conserved Domains (1) summary
    cl11961
    Location:19441
    ALDH-SF; NAD(P)+-dependent aldehyde dehydrogenase superfamily
  2. NM_153329.3NP_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)
    AK297101, AY007096, BC014895, DA629821, DC364604
    Consensus CDS
    CCDS12766.1
    UniProtKB/Swiss-Prot
    Q8IZ83
    Related
    ENSP00000293350.3, OTTHUMP00000271017, ENST00000293350.8, OTTHUMT00000465358
    Conserved Domains (1) summary
    cl11961
    Location:19492
    ALDH-SF; NAD(P)+-dependent aldehyde dehydrogenase superfamily

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p12 Primary Assembly

    Range
    49453216..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, OTTHUMP00000271018, ENST00000540132.5, OTTHUMT00000465359
    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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