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Aliases for ALDH16A1 Gene

Aliases for ALDH16A1 Gene

  • Aldehyde Dehydrogenase 16 Family Member A1 2 3 5
  • Aldehyde Dehydrogenase 16 Family, Member A1 2
  • Aldehyde Dehydrogenase Family 16 Member A1 3

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. 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 ALDH5A1.

Gene Wiki entry for ALDH16A1 Gene

Additional gene information for ALDH16A1 Gene

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ALDH16A1 Gene

Genomics for ALDH16A1 Gene

GeneHancer (GH) Regulatory Elements for ALDH16A1 Gene

Promoters and enhancers for ALDH16A1 Gene
GeneHancer (GH) Identifier GH Type GH
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 723.6 -0.4 -357 4.7 MLX FEZF1 DMAP1 YY1 ZNF213 E2F8 ZNF143 SP3 NFYC ZNF610 ALDH16A1 PIH1D1 POLD1 NUP62 SNORD35A IRF3 SNORD35B PNKP PRR12 BAX
GH19J049467 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE dbSUPER 668.1 +16.6 16597 3.9 PKNOX1 SIN3A ZNF207 ZNF143 ATF7 KLF7 RUNX3 SP3 REST ZNF623 ALDH16A1 RPL13A FLT3LG ENSG00000269469
GH19J049463 Promoter 0.5 EPDnew 650.4 +10.8 10775 0.1 ENSG00000269469 ALDH16A1 RPL13A SNORD32A SNORD33 SNORD34 SNORD35A SLC17A7 PTH2 FLT3LG
GH19J048958 Promoter/Enhancer 2.9 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 61.2 -489.1 -489140 10.2 MLX ZFP64 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 ZNF263 FTL ENSG00000267898 GC19P048966 GC19P048967 NUP62 PTOV1-AS2 IRF3 SNORD35A SNORD35B PRR12
GH19J048871 Promoter/Enhancer 2.6 EPDnew Ensembl ENCODE dbSUPER 47.8 -577.2 -577154 8.8 FEZF1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 MEF2D SSRP1 GC19M048876 PPP1R15A PRR12 SNRNP70 IRF3 GRWD1 SNORD35A PTOV1-AS2 SNORD35B PIH1D1
- 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 UCSC Golden Path with GeneCards custom track

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

Genomic Locations for ALDH16A1 Gene

Genomic Locations for ALDH16A1 Gene
17,882 bases
Plus strand
17,880 bases
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 StructureGene Density

RefSeq DNA sequence for ALDH16A1 Gene

Proteins for ALDH16A1 Gene

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

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

    Protein attributes for ALDH16A1 Gene

    802 amino acids
    Molecular mass:
    85127 Da
    Quaternary structure:
    • Interacts with SPG21.
    • 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


neXtProt entry for ALDH16A1 Gene

Post-translational modifications for ALDH16A1 Gene

  • Ubiquitination at posLast=564564, posLast=499499, Lys413, Lys245, and posLast=9191
  • Modification sites at PhosphoSitePlus

Other Protein References for ALDH16A1 Gene

No data available for DME Specific Peptides for ALDH16A1 Gene

Domains & Families for ALDH16A1 Gene

Gene Families for ALDH16A1 Gene

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

Protein Domains for ALDH16A1 Gene

Graphical View of Domain Structure for InterPro Entry



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

Function for ALDH16A1 Gene

Phenotypes From GWAS Catalog for ALDH16A1 Gene

Gene Ontology (GO) - Molecular Function for ALDH16A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004029 aldehyde dehydrogenase (NAD) activity IBA --
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

miRNA for ALDH16A1 Gene

miRTarBase miRNAs that target ALDH16A1

Clone Products

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

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
extracellular 5
mitochondrion 3
plasma membrane 1
peroxisome 1
cytosol 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for ALDH16A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane HDA 19946888
GO:0070062 extracellular exosome HDA --
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

SuperPathways for ALDH16A1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for ALDH16A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008152 metabolic process IEA --
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

No Compound Related Data Available

Transcripts for ALDH16A1 Gene

mRNA/cDNA for ALDH16A1 Gene

(4) REFSEQ mRNAs :
(6) Additional mRNA sequences :
(9) Selected AceView cDNA sequences:
(8) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for ALDH16A1 Gene

Aldehyde dehydrogenase 16 family, member A1:
Representative Sequences:

Clone Products

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
SP2: -
SP3: - -
SP4: - -

Relevant External Links for ALDH16A1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for ALDH16A1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE 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

NURSA nuclear receptor signaling pathways regulating expression of ALDH16A1 Gene:


SOURCE GeneReport for Unigene cluster for ALDH16A1 Gene:


Evidence on tissue expression from TISSUES for ALDH16A1 Gene

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

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
(Pan troglodytes)
Mammalia ALDH16A1 34 33
  • 98.59 (n)
(Canis familiaris)
Mammalia ALDH16A1 34 33
  • 85.87 (n)
(Bos Taurus)
Mammalia ALDH16A1 34 33
  • 85.42 (n)
(Mus musculus)
Mammalia Aldh16a1 16 34 33
  • 80.84 (n)
(Rattus norvegicus)
Mammalia Aldh16a1 33
  • 80.3 (n)
(Ornithorhynchus anatinus)
Mammalia ALDH16A1 34
  • 58 (a)
(Monodelphis domestica)
Mammalia ALDH16A1 34
  • 52 (a)
(Anolis carolinensis)
Reptilia ALDH16A1 34
  • 28 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia aldh16a1 33
  • 52.48 (n)
(Danio rerio)
Actinopterygii aldh16a1 34 33
  • 46.86 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ALD3 34
  • 25 (a)
ALD2 34
  • 25 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 41 (a)
Species where no ortholog for ALDH16A1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 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

Gene Tree for ALDH16A1 (if available)
Gene Tree for ALDH16A1 (if available)
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
  • M0QY06_HUMAN
genes like me logo Genes that share paralogs with ALDH16A1: view

Variants for ALDH16A1 Gene

Sequence variations from dbSNP and Humsavar for ALDH16A1 Gene

SNP ID Clin Chr 19 pos Variation AA Info Type
rs1000161164 -- 49,458,767(+) C/T intron_variant
rs1000334154 -- 49,464,204(+) C/A/T coding_sequence_variant, synonymous_variant
rs1000374359 -- 49,469,077(+) T/C intron_variant
rs1000386645 -- 49,464,345(+) C/T intron_variant
rs1000478900 -- 49,455,976(+) C/T genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant

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)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

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

Disorders for ALDH16A1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for ALDH16A1 Gene - From: HGMD, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
mast syndrome
  • spastic paraplegia 21, autosomal recessive; spg21
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for ALDH16A1

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) 3 4 58
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  3. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  4. Temporal proteomics of NGF-TrkA signaling identifies an inhibitory role for the E3 ligase Cbl-b in neuroblastoma cell differentiation. (PMID: 25921289) Emdal KB … Olsen JV (Science signaling 2015) 3 58
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin EL … Gygi SP (Cell 2015) 3 58

Products for ALDH16A1 Gene

Sources for ALDH16A1 Gene

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