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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

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. 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.

Gene Wiki entry 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

Regulatory Elements for ALDH16A1 Gene

Enhancers for ALDH16A1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH19G049450 1.2 ENCODE 61.9 -0.4 -358 4.7 MLX CREB3L1 FEZF1 DMAP1 YY1 ZNF143 SP3 NFYC TBX21 ZNF610 ALDH16A1 POLD1 SNORD35A SNORD35B NUP62 PIH1D1 FLT3LG PRR12 RPL18 PNKP
GH19G049441 1.4 Ensembl ENCODE 47.5 -10.0 -9969 2.8 HDGF FOXA2 PKNOX1 CREB3L1 ARNT AGO1 WRNIP1 ARID4B SIN3A DMAP1 ALDH16A1 PRR12 GRWD1 SNORD35A RPS9P4 POLD1 ADM5 NUP62 RASIP1 SNORD35B
GH19G048612 1.7 Ensembl ENCODE dbSUPER 33.3 -836.4 -836407 7.8 CREB3L1 AGO1 ZFP64 DMAP1 FEZF1 YY1 SLC30A9 ZNF143 SP3 NFYC PRR12 SNORD35A KDELR1 SNORD35B ALDH16A1 GRWD1 SEC1P NOP53-AS1 RPS11 PIH1D1
GH19G049494 2 FANTOM5 Ensembl ENCODE dbSUPER 27.9 +45.9 45875 9.7 CREB3L1 AGO1 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 NFYC RPS11 ALDH16A1 SNORD35A PIH1D1 SNORD35B RPL18 FLT3LG PRR12 CD37 POLD1
GH19G048632 1.7 Ensembl ENCODE dbSUPER 20.4 -816.7 -816693 7.8 MLX CREB3L1 AGO1 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 NFYC PRR12 ENSG00000268093 GRWD1 RPS11 SNORD35A PIH1D1 RPL18 NOP53-AS1 SNORD35B ALDH16A1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ALDH16A1 on UCSC Golden Path with GeneCards custom track

Promoters for ALDH16A1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000110898 -569 3201 MLX CREB3L1 FEZF1 DMAP1 YY1 ZNF143 SP3 NFYC TBX21 ZNF610

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

Post-translational modifications for ALDH16A1 Gene

  • Ubiquitination at Lys91, Lys245, Lys413, posLast=499499, and posLast=564564
  • 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

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: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

CRISPR Products

miRNA for ALDH16A1 Gene

miRTarBase miRNAs that target ALDH16A1

Inhibitory RNA Products

Clone Products

Flow Cytometry 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

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

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

Transcripts for ALDH16A1 Gene

mRNA/cDNA for ALDH16A1 Gene

Unigene Clusters for ALDH16A1 Gene

Aldehyde dehydrogenase 16 family, member A1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry 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
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 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, PaxDb, 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:

ALDH16A1

SOURCE GeneReport for Unigene cluster for ALDH16A1 Gene:

Hs.719998

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

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 34 35
  • 98.59 (n)
dog
(Canis familiaris)
Mammalia ALDH16A1 34 35
  • 85.87 (n)
cow
(Bos Taurus)
Mammalia ALDH16A1 34 35
  • 85.42 (n)
mouse
(Mus musculus)
Mammalia Aldh16a1 34 16 35
  • 80.84 (n)
rat
(Rattus norvegicus)
Mammalia Aldh16a1 34
  • 80.3 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ALDH16A1 35
  • 58 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ALDH16A1 35
  • 52 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ALDH16A1 35
  • 28 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia aldh16a1 34
  • 52.48 (n)
zebrafish
(Danio rerio)
Actinopterygii aldh16a1 34 35
  • 46.86 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ALD2 35
  • 25 (a)
OneToMany
ALD3 35
  • 25 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 41 (a)
OneToOne
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

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

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
rs1000161164 -- 49,458,767(+) GGTCT(C/T)TGTGG intron-variant
rs1000334154 -- 49,464,204(+) CCCCG(A/C/T)GGGGG reference, synonymous-codon
rs1000374359 -- 49,469,077(+) AGAAC(C/T)CCTGT intron-variant
rs1000386645 -- 49,464,345(+) CCGCG(C/T)CTTTA intron-variant
rs1000478900 -- 49,455,976(+) GTCAA(C/T)ATTTG intron-variant, upstream-variant-2KB

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)

Relevant External Links 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

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

Disorder Aliases PubMed IDs
mast syndrome
  • autosomal recessive spastic paraplegia 21
- 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 64
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  3. 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 64
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3 64
  5. Panorama of ancient metazoan macromolecular complexes. (PMID: 26344197) Wan C. … Emili A. (Nature 2015) 3 64

Products for ALDH16A1 Gene

Sources for ALDH16A1 Gene

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