Free for academic non-profit institutions. Other users need a Commercial license

Aliases for ALDH16A1 Gene

Aliases for ALDH16A1 Gene

  • Aldehyde Dehydrogenase 16 Family Member A1 2 3 5
  • Aldehyde Dehydrogenase 16 Family, Member A1 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. 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 ALDH1A2.

Gene Wiki entry for ALDH16A1 Gene

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

Genomics for ALDH16A1 Gene

Regulatory Elements for ALDH16A1 Gene

Promoters for ALDH16A1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ALDH16A1 on UCSC Golden Path with GeneCards custom track

Genomic Location for ALDH16A1 Gene

Chromosome:
19
Start:
49,453,169 bp from pter
End:
49,471,050 bp from pter
Size:
17,882 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 StructureGene Density

RefSeq DNA sequence for ALDH16A1 Gene

Proteins for ALDH16A1 Gene

  • 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

Proteomics data for ALDH16A1 Gene at MOPED

Post-translational modifications for ALDH16A1 Gene

  • Ubiquitination at Lys 91, Lys 245, Lys 413, Lys 499, and Lys 564
  • Modification sites at PhosphoSitePlus

Other Protein References for ALDH16A1 Gene

Antibody Products

No data available for DME Specific Peptides for ALDH16A1 Gene

Domains & Families for ALDH16A1 Gene

Gene Families for ALDH16A1 Gene

Protein Domains for ALDH16A1 Gene

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

Gene Ontology (GO) - Molecular Function for ALDH16A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0019145 aminobutyraldehyde dehydrogenase activity IBA --
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

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
Jensen Localization Image for ALDH16A1 Gene COMPARTMENTS Subcellular localization image for ALDH16A1 gene
Compartment Confidence
extracellular 5
mitochondrion 3
cytosol 1
endosome 1
golgi apparatus 1
peroxisome 1
plasma membrane 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for ALDH16A1 Gene

Pathways & Interactions for ALDH16A1 Gene

SuperPathways for ALDH16A1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for ALDH16A1 Gene

None

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

Unigene Clusters for ALDH16A1 Gene

Aldehyde dehydrogenase 16 family, member A1:
Representative Sequences:

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
ECgene alternative splicing isoforms for
ALDH16A1

Expression for ALDH16A1 Gene

mRNA expression in normal human tissues 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, PaxDb, MOPED, and MaxQB for ALDH16A1 Gene



SOURCE GeneReport for Unigene cluster for ALDH16A1 Gene Hs.719998

genes like me logo Genes that share expression patterns with ALDH16A1: view

Protein tissue co-expression partners for ALDH16A1 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt 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
cow
(Bos Taurus)
Mammalia ALDH16A1 35
  • 85.42 (n)
  • 85.75 (a)
ALDH16A1 36
  • 83 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ALDH16A1 35
  • 85.87 (n)
  • 84.91 (a)
ALDH16A1 36
  • 85 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Aldh16a1 35
  • 80.84 (n)
  • 81.67 (a)
Aldh16a1 16
Aldh16a1 36
  • 82 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ALDH16A1 35
  • 98.59 (n)
  • 98.25 (a)
ALDH16A1 36
  • 98 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Aldh16a1 35
  • 80.3 (n)
  • 81.05 (a)
oppossum
(Monodelphis domestica)
Mammalia ALDH16A1 36
  • 52 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ALDH16A1 36
  • 58 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ALDH16A1 36
  • 28 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia aldh16a1 35
  • 52.48 (n)
  • 46.18 (a)
zebrafish
(Danio rerio)
Actinopterygii aldh16a1 35
  • 46.86 (n)
  • 36.93 (a)
aldh16a1 36
  • 33 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ALD2 36
  • 25 (a)
OneToMany
ALD3 36
  • 25 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 41 (a)
OneToOne
Species with no ortholog for ALDH16A1:
  • 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

ENSEMBL:
Gene Tree for ALDH16A1 (if available)
TreeFam:
Gene Tree for ALDH16A1 (if available)

Paralogs for ALDH16A1 Gene

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

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 Sequence Context AA Info Type
rs3745312 - 49,459,677(+) TGGCC(A/G)AGGTG reference, missense
rs1320303 - 49,461,720(+) ATGTC(A/C/G)TCAGT reference, missense
rs1055637 -- 49,470,527(+) CCCAC(A/G)GACAC utr-variant-3-prime
rs1006938 -- 49,471,129(+) GCCTG(A/C)GAGAT downstream-variant-500B
rs2293008 -- 49,464,034(+) TAACC(A/C/G)TGTGA intron-variant

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

Variant ID Type Subtype PubMed ID
nsv9739 CNV Gain+Loss 18304495
dgv52n68 CNV Loss 17160897
nsv912261 CNV Loss 21882294
nsv912262 CNV Loss 21882294
nsv912264 CNV Loss 21882294
nsv833862 CNV Loss 17160897
nsv2518 CNV Insertion 18451855
esv1432834 CNV Insertion 17803354
esv1208352 CNV Insertion 17803354
esv1526018 CNV Insertion 17803354
nsv499659 CNV Gain 21111241
esv2674843 CNV Deletion 23128226
esv2718721 CNV Deletion 23290073
esv1213251 CNV Deletion 17803354

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)

Relevant External Links for ALDH16A1 Gene

HapMap Linkage Disequilibrium report
ALDH16A1
Human Gene Mutation Database (HGMD)
ALDH16A1

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

Disorders for ALDH16A1 Gene

MalaCards: The human disease database

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

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

Relevant External Links for ALDH16A1

Human Genome Epidemiology (HuGE) Navigator
ALDH16A1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 M.C. … Blackstone C. (Neurogenetics 2009) 3 4 67
  2. Temporal proteomics of NGF-TrkA signaling identifies an inhibitory role for the E3 ligase Cbl-b in neuroblastoma cell differentiation. (PMID: 25921289) Emdal K.B. … Olsen J.V. (Sci Signal 2015) 3
  3. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  4. Panorama of ancient metazoan macromolecular complexes. (PMID: 26344197) Wan C. … Emili A. (Nature 2015) 3
  5. ALDH16A1 is a novel non-catalytic enzyme that may be involved in the etiology of gout via protein-protein interactions with HPRT1. (PMID: 23348497) Vasiliou V. … Thompson D.C. (Chem. Biol. Interact. 2013) 3

Products for ALDH16A1 Gene

Sources for ALDH16A1 Gene

Back to Top

Content