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Aliases for ALDH16A1 Gene

Aliases for ALDH16A1 Gene

  • Aldehyde Dehydrogenase 16 Family, Member A1 2 3

External Ids for ALDH16A1 Gene

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. GO annotations related to this gene include oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor.

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

Genomic Location for ALDH16A1 Gene

Start:
49,453,169 bp from pter
End:
49,471,048 bp from pter
Size:
17,880 bases
Orientation:
Plus strand

Genomic View for ALDH16A1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ALDH16A1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ALDH16A1 Gene

Regulatory Elements 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

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

Other Protein References for ALDH16A1 Gene

No data available for DME Specific Peptides for ALDH16A1 Gene

Domains for ALDH16A1 Gene

Gene Families for ALDH16A1 Gene

HGNC:
  • ALDH :Aldehyde dehydrogenases

Protein Domains for ALDH16A1 Gene

UniProtKB/Swiss-Prot:

A16A1_HUMAN
Family:
  • Belongs to the aldehyde dehydrogenase family.:
    • Q8IZ83
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:0004029 aldehyde dehydrogenase (NAD) activity IBA --
GO:0016491 oxidoreductase activity --
GO:0016620 oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor --
genes like me logo Genes that share ontologies with ALDH16A1: view
genes like me logo Genes that share phenotypes with ALDH16A1: view

miRNA for ALDH16A1 Gene

miRTarBase miRNAs that target ALDH16A1

No data available for Molecular function , Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting 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
cytosol 1
endosome 1
peroxisome 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for ALDH16A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IDA 19946888
GO:0070062 extracellular exosome IDA 23376485
genes like me logo Genes that share ontologies with ALDH16A1: view

Pathways 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 --
GO:0055114 oxidation-reduction process IEA --
genes like me logo Genes that share ontologies with ALDH16A1: view

No data available for Pathways by source for ALDH16A1 Gene

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

Integrated Proteomics: protein expression 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 expressions with ALDH16A1: view

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 36
  • 98.59 (n)
  • 98.25 (a)
ALDH16A1 37
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ALDH16A1 36
  • 85.42 (n)
  • 85.75 (a)
ALDH16A1 37
  • 83 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ALDH16A1 36
  • 85.87 (n)
  • 84.91 (a)
ALDH16A1 37
  • 85 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Aldh16a1 36
  • 80.84 (n)
  • 81.67 (a)
Aldh16a1 16
Aldh16a1 37
  • 82 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ALDH16A1 37
  • 52 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ALDH16A1 37
  • 58 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Aldh16a1 36
  • 80.3 (n)
  • 81.05 (a)
lizard
(Anolis carolinensis)
Reptilia ALDH16A1 37
  • 28 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia aldh16a1 36
  • 52.48 (n)
  • 46.18 (a)
zebrafish
(Danio rerio)
Actinopterygii aldh16a1 36
  • 46.86 (n)
  • 36.93 (a)
aldh16a1 37
  • 33 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ALD2 37
  • 25 (a)
OneToMany
ALD3 37
  • 25 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 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

Selected SIMAP similar genes for ALDH16A1 Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with ALDH16A1: view

No data available for Paralogs for ALDH16A1 Gene

Variants for ALDH16A1 Gene

Sequence variations from dbSNP and Humsavar for ALDH16A1 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type MAF
rs1006938 -- 49,471,129(+) GCCTG(A/C)GAGAT downstream-variant-500B
rs1055637 -- 49,470,527(+) CCCAC(A/G)GACAC utr-variant-3-prime
rs1320303 - 49,461,720(+) ATGTC(C/G)TCAGT reference, missense
rs2293008 -- 49,464,034(+) TAACC(A/C/G)TGTGA intron-variant
rs2293009 -- 49,464,423(+) CTCCA(A/G)GTGGG synonymous-codon, reference

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

Relevant External Links for ALDH16A1 Gene

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

Disorders for ALDH16A1 Gene

(1) MalaCards Diseases for ALDH16A1 Gene

Search for ALDH16A1 Gene in MalaCards »

(1) University of Copenhagen DISEASES for ALDH16A1 Gene

Relevant External Links for ALDH16A1

Human Genome Epidemiology (HuGE) Navigator
ALDH16A1
genes like me logo Genes that share disorders with ALDH16A1: view

No data available for UniProtKB/Swiss-Prot 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
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  3. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PMID: 16344560) Kimura K. … Sugano S. (Genome Res. 2006) 3
  4. A germline-specific class of small RNAs binds mammalian Piwi proteins. (PMID: 16751776) Girard A. … Carmell M.A. (Nature 2006) 3
  5. Large-scale mapping of human protein-protein interactions by mass spectrometry. (PMID: 17353931) Ewing R.M. … Figeys D. (Mol. Syst. Biol. 2007) 3

Products for ALDH16A1 Gene

Sources for ALDH16A1 Gene

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