ALDH16A1 Gene (Protein Coding)

Aldehyde Dehydrogenase 16 Family Member A1

GC19P049453
GIFtS:
36
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 sy... See more...

Aliases for ALDH16A1 Gene

Aliases for ALDH16A1 Gene

  • Aldehyde Dehydrogenase 16 Family Member A1 2 3 5
  • Aldehyde Dehydrogenase Family 16 Member A1 3 4
  • Aldehyde Dehydrogenase 16 Family, Member A1 2
  • ALDH16A1 5
  • MGC10204 2

External Ids for ALDH16A1 Gene

Previous GeneCards Identifiers for ALDH16A1 Gene

  • GC19P054649
  • GC19P049958
  • GC19P046333

Summaries for ALDH16A1 Gene

Entrez Gene Summary for ALDH16A1 Gene

  • 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]

GeneCards Summary for ALDH16A1 Gene

ALDH16A1 (Aldehyde Dehydrogenase 16 Family Member A1) is a Protein Coding gene. Diseases associated with ALDH16A1 include Mast Syndrome and Gout. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity and oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor. An important paralog of this gene is ALDH2.

Gene Wiki entry for ALDH16A1 Gene

Additional gene information for ALDH16A1 Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ALDH16A1 Gene

Genomics for ALDH16A1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for ALDH16A1 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH19J049450 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 657.5 -0.4 -413 4.7 BRCA1 SP1 HNRNPL CREB1 GATAD2A PRDM10 ZNF629 REST SIX5 IKZF1 ALDH16A1 PIH1D1 lnc-SLC17A7-2 SNORD35A PRR12 SNORD35B POLD1 IRF3 PTOV1-AS2 NR1H2
GH19J049467 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE dbSUPER 618.1 +16.5 16541 3.9 SP1 CTCF RFX1 KDM1A BACH1 LARP7 ZNF143 RELA PKNOX1 PATZ1 ALDH16A1 piR-42673 RPL13A FLT3LG ENSG00000269469
GH19J049463 Promoter 0.3 EPDnew 600.4 +10.7 10719 0.1 ENSG00000269469 ALDH16A1 RPL13A SNORD32A SNORD33 SNORD34 SNORD35A SLC17A7 PTH2 piR-42673
GH19J049442 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 61.6 -10.1 -10124 3.8 SP1 HNRNPL CTCF TEAD4 PRDM10 ZNF629 ZNF512 RFX1 SIX5 IKZF1 SLC17A7 lnc-SLC17A7-1 ALDH16A1 PRR12 GRWD1 SNORD35A SNORD35B SNRNP70 POLD1 PIH1D1
GH19J048958 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 43.1 -489.2 -489196 10.2 SP1 HNRNPL CREB1 GATAD2A ATF7 PRDM10 REST ZNF629 TFE3 RFX1 FTL ENSG00000267898 NONHSAG026207.2 PRR12 NUP62 PTOV1-AS2 PIH1D1 IRF3 SNORD35A SNORD35B
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ALDH16A1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ALDH16A1

Top Transcription factor binding sites by QIAGEN in the ALDH16A1 gene promoter:
  • C/EBPbeta
  • CP2
  • CREB
  • deltaCREB
  • HOXA5
  • ITF-2
  • MRF-2
  • MZF-1
  • Pax-5
  • Tal-1beta

Genomic Locations for ALDH16A1 Gene

Genomic Locations for ALDH16A1 Gene
chr19:49,453,225-49,471,050
(GRCh38/hg38)
Size:
17,826 bases
Orientation:
Plus strand
chr19:49,956,426-49,974,305
(GRCh37/hg19)
Size:
17,880 bases
Orientation:
Plus strand

Genomic View for ALDH16A1 Gene

Genes around ALDH16A1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ALDH16A1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ALDH16A1 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for ALDH16A1 Gene

Proteins for ALDH16A1 Gene

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  2. Protein
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  • Protein details for ALDH16A1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8IZ83-A16A1_HUMAN
    Recommended name:
    Aldehyde dehydrogenase family 16 member A1
    Protein Accession:
    Q8IZ83
    Secondary Accessions:
    • B4DLQ1
    • C9JBH6
    • Q86YF0
    • Q8IYL4
    • Q8TEI8

    Protein attributes for ALDH16A1 Gene

    Size:
    802 amino acids
    Molecular mass:
    85127 Da
    Quaternary structure:
    • Interacts with SPG21.
    SequenceCaution:
    • Sequence=AAH35641.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAB84962.1; Type=Erroneous translation; Note=Wrong choice of frame.; Evidence={ECO:0000305};

    Alternative splice isoforms for ALDH16A1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ALDH16A1 Gene

Protein Expression for ALDH16A1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for ALDH16A1 Gene

  • Ubiquitination at Lys91, Lys245, Lys413, Lys499, and Lys564
  • Modification sites at PhosphoSitePlus

Other Protein References for ALDH16A1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for ALDH16A1 Gene

Domains & Families for ALDH16A1 Gene

Gene Families for ALDH16A1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted membrane proteins

Protein Domains for ALDH16A1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ALDH16A1 Gene

GenScript: Design optimal peptide antigens:
  • Aldehyde dehydrogenase family 16 member A1 (A16A1_HUMAN)
  • cDNA FLJ60673, highly similar to Homo sapiens aldehyde dehydrogenase 16 family, member A1 (ALDH16A1), mRNA (B4DLQ1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8IZ83

UniProtKB/Swiss-Prot:

A16A1_HUMAN :
  • Belongs to the aldehyde dehydrogenase family.
Family:
  • Belongs to the aldehyde dehydrogenase family.
genes like me logo Genes that share domains with ALDH16A1: view

Function for ALDH16A1 Gene

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Phenotypes From GWAS Catalog for ALDH16A1 Gene

Gene Ontology (GO) - Molecular Function for ALDH16A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016491 oxidoreductase activity IEA --
GO:0016620 oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor IEA --
genes like me logo Genes that share ontologies with ALDH16A1: view
genes like me logo Genes that share phenotypes with ALDH16A1: view

Animal Models for ALDH16A1 Gene

MGI Knock Outs for ALDH16A1:

Animal Model Products

  • Taconic Biosciences Mouse Models for ALDH16A1

CRISPR Products

miRNA for ALDH16A1 Gene

miRTarBase miRNAs that target ALDH16A1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ALDH16A1

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ALDH16A1 Gene

Localization for ALDH16A1 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ALDH16A1 gene
Compartment Confidence
mitochondrion 3
extracellular 1
peroxisome 1
nucleus 1
endoplasmic reticulum 1
endosome 1
cytosol 1
plasma membrane 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ALDH16A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane HDA 19946888
genes like me logo Genes that share ontologies with ALDH16A1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for ALDH16A1 Gene

Pathways & Interactions for ALDH16A1 Gene

PathCards logo

SuperPathways for ALDH16A1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for ALDH16A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0055114 oxidation-reduction process IEA --
genes like me logo Genes that share ontologies with ALDH16A1: view

No data available for Pathways by source and SIGNOR curated interactions for ALDH16A1 Gene

Drugs & Compounds for ALDH16A1 Gene

Products:

  1. Drug
No Compound Related Data Available

Transcripts for ALDH16A1 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for ALDH16A1 Gene

2 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ALDH16A1

Alternative Splicing Database (ASD) splice patterns (SP) for ALDH16A1 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11a · 11b · 11c ^ 12 ^ 13a · 13b ^ 14 ^ 15 ^ 16a · 16b ^ 17
SP1:
SP2: -
SP3: - -
SP4: - -

Relevant External Links for ALDH16A1 Gene

GeneLoc Exon Structure for
ALDH16A1

Expression for ALDH16A1 Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ALDH16A1 Gene

mRNA expression in normal human tissues for ALDH16A1 Gene
mRNA expression by GTEx for ALDH16A1 GenemRNA expression by BioGPS for ALDH16A1 Gene

Protein differential expression in normal tissues from HIPED for ALDH16A1 Gene

This gene is overexpressed in Lymph node (17.9) and Peripheral blood mononuclear cells (9.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ALDH16A1 Gene



Protein tissue co-expression partners for ALDH16A1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ALDH16A1

SOURCE GeneReport for Unigene cluster for ALDH16A1 Gene:

Hs.719998

Evidence on tissue expression from TISSUES for ALDH16A1 Gene

  • Liver(4.4)
  • Skin(4.3)
  • Spleen(4.2)
genes like me logo Genes that share expression patterns with ALDH16A1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for ALDH16A1 Gene

Orthologs for ALDH16A1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for ALDH16A1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia ALDH16A1 30 31
  • 98.59 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia ALDH16A1 30 31
  • 85.87 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia ALDH16A1 30 31
  • 85.42 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Aldh16a1 30 17 31
  • 80.84 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Aldh16a1 30
  • 80.3 (n)
Platypus
(Ornithorhynchus anatinus)
 Mammalia ALDH16A1 31
  • 58 (a)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia ALDH16A1 31
  • 52 (a)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia ALDH16A1 31
  • 28 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia aldh16a1 30
  • 52.48 (n)
Zebrafish
(Danio rerio)
 Actinopterygii aldh16a1 30 31
  • 46.86 (n)
 OneToOne
Baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes ALD3 31
  • 25 (a)
 OneToMany
ALD2 31
  • 25 (a)
 OneToMany
Sea Squirt
(Ciona savignyi)
 Ascidiacea -- 31
  • 41 (a)
 OneToOne
Species where no ortholog for ALDH16A1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for ALDH16A1 Gene

ENSEMBL:
Gene Tree for ALDH16A1 (if available)
TreeFam:
Gene Tree for ALDH16A1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ALDH16A1: view image

Paralogs for ALDH16A1 Gene

Paralogs for ALDH16A1 Gene

(1) SIMAP similar genes for ALDH16A1 Gene using alignment to 5 proteins:

  • A16A1_HUMAN
  • F5H4B6_HUMAN
  • F8WBH3_HUMAN
  • M0QY06_HUMAN
  • M0QYY1_HUMAN
genes like me logo Genes that share paralogs with ALDH16A1: view

Variants for ALDH16A1 Gene

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  1. SNP Genotyping and Copy Number Assay

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ALDH16A1 Gene

SNP ID Clinical significance and condition Chr 19 pos Variation AA Info Type
729212 Likely Benign: not provided 49,461,915(+) G/A MISSENSE_VARIANT,INTRON_VARIANT
771038 Likely Benign: not provided 49,464,461(+) A/T MISSENSE_VARIANT
777914 Benign: not provided 49,460,909(+) G/A INTRON_VARIANT
rs1320303 - p.Leu227Val
rs3745312 - p.Glu110Lys

Additional dbSNP identifiers (rs#s) for ALDH16A1 Gene

Structural Variations from Database of Genomic Variants (DGV) for ALDH16A1 Gene

Variant ID Type Subtype PubMed ID
dgv52n68 CNV loss 17160897
esv1208352 CNV insertion 17803354
esv1213251 CNV deletion 17803354
esv1432834 CNV insertion 17803354
esv1526018 CNV insertion 17803354
esv2674843 CNV deletion 23128226
esv2718721 CNV deletion 23290073
esv3384892 CNV duplication 20981092
esv3644624 CNV gain 21293372
nsv2518 CNV insertion 18451855
nsv499659 CNV gain 21111241
nsv833862 CNV loss 17160897
nsv953599 CNV deletion 24416366
nsv9739 CNV gain+loss 18304495

Variation tolerance for ALDH16A1 Gene

Residual Variation Intolerance Score: 97.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.18; 61.84% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ALDH16A1 Gene

Human Gene Mutation Database (HGMD)
ALDH16A1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ALDH16A1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ALDH16A1 Gene

Disorders for ALDH16A1 Gene

MalaCards: The human disease database

(4) MalaCards diseases for ALDH16A1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
mast syndrome
  • spastic paraplegia 21, autosomal recessive; spg21
gout
  • articular gout
succinic semialdehyde dehydrogenase deficiency
  • ssadhd
gamma-amino butyric acid metabolism disorder
  • disorder of gamma-aminobutyric acid metabolism
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for ALDH16A1

Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with ALDH16A1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ALDH16A1 Gene

Publications for ALDH16A1 Gene

  1. Interaction of the SPG21 protein ACP33/maspardin with the aldehyde dehydrogenase ALDH16A1. (PMID: 19184135) Hanna MC … Blackstone C (Neurogenetics 2009) 2 3 4
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  3. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3
  4. Rewiring of the Human Mitochondrial Interactome during Neuronal Reprogramming Reveals Regulators of the Respirasome and Neurogenesis. (PMID: 31536960) Moutaoufik MT … Babu M (iScience 2019) 3
  5. Systematic identification of cancer cell vulnerabilities to natural killer cell-mediated immune surveillance. (PMID: 31452512) Pech MF … Settleman J (eLife 2019) 3

ExternalLinks

View latest publications for ALDH16A1 gene in Mastermind

Products for ALDH16A1 Gene

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Sources for ALDH16A1 Gene