Human Gene ALDH16A1 (ENST00000293350.9) from GENCODE V44
  Description: Homo sapiens aldehyde dehydrogenase 16 family member A1 (ALDH16A1), transcript variant 1, mRNA. (from RefSeq NM_153329)
RefSeq Summary (NM_153329): 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].
Gencode Transcript: ENST00000293350.9
Gencode Gene: ENSG00000161618.10
Transcript (Including UTRs)
   Position: hg38 chr19:49,453,225-49,471,050 Size: 17,826 Total Exon Count: 17 Strand: +
Coding Region
   Position: hg38 chr19:49,453,332-49,470,467 Size: 17,136 Coding Exon Count: 17 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr19:49,453,225-49,471,050)mRNA (may differ from genome)Protein (802 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCHPRDLynxMalacardsMGIneXtProt
OMIMPubMedUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: A16A1_HUMAN
DESCRIPTION: RecName: Full=Aldehyde dehydrogenase family 16 member A1;
SUBUNIT: Interacts with SPG21.
SIMILARITY: Belongs to the aldehyde dehydrogenase family.
CAUTION: The active site cysteine and glutamate residues are not conserved in this protein. Its activity is therefore unsure.
SEQUENCE CAUTION: Sequence=AAH35641.1; Type=Erroneous initiation; Sequence=BAB84962.1; Type=Erroneous translation; Note=Wrong choice of frame;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: ALDH16A1
Diseases sorted by gene-association score: mast syndrome (19), gout (6)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 33.92 RPKM in Spleen
Total median expression: 560.45 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -48.30107-0.451 Picture PostScript Text
3' UTR -194.50583-0.334 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR016161 - Ald_DH/histidinol_DH
IPR016163 - Ald_DH_C
IPR016162 - Ald_DH_N
IPR011408 - Aldehyde_DH
IPR015590 - Aldehyde_DH_dom

Pfam Domains:
PF00171 - Aldehyde dehydrogenase family

ModBase Predicted Comparative 3D Structure on Q8IZ83
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserGenome BrowserNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGI Ensembl   
Protein SequenceProtein SequenceProtein Sequence   
AlignmentAlignmentAlignment   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004029 aldehyde dehydrogenase (NAD) activity
GO:0016491 oxidoreductase activity
GO:0016620 oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor

Biological Process:
GO:0008152 metabolic process
GO:0055114 oxidation-reduction process

Cellular Component:
GO:0016020 membrane


-  Descriptions from all associated GenBank mRNAs
  AK298587 - Homo sapiens cDNA FLJ51525 complete cds, highly similar to Homo sapiens aldehyde dehydrogenase 16 family, member A1 (ALDH16A1), mRNA.
AK074136 - Homo sapiens mRNA for FLJ00209 protein.
AK297101 - Homo sapiens cDNA FLJ60673 complete cds, highly similar to Homo sapiens aldehyde dehydrogenase 16 family, member A1 (ALDH16A1), mRNA.
BC014895 - Homo sapiens aldehyde dehydrogenase 16 family, member A1, mRNA (cDNA clone MGC:10204 IMAGE:3910527), complete cds.
AK024182 - Homo sapiens cDNA FLJ14120 fis, clone MAMMA1001956.
AK301246 - Homo sapiens cDNA FLJ51526 complete cds, highly similar to Homo sapiens aldehyde dehydrogenase 16 family, member A1 (ALDH16A1), mRNA.
JD024408 - Sequence 5432 from Patent EP1572962.
JD034066 - Sequence 15090 from Patent EP1572962.
JD023408 - Sequence 4432 from Patent EP1572962.
JD026140 - Sequence 7164 from Patent EP1572962.
JD030869 - Sequence 11893 from Patent EP1572962.
JD102627 - Sequence 83651 from Patent EP1572962.
JD516365 - Sequence 497389 from Patent EP1572962.
JD019334 - Sequence 358 from Patent EP1572962.
JD034063 - Sequence 15087 from Patent EP1572962.
AY007096 - Homo sapiens clone TCCCIA00164 mRNA sequence.
BC042142 - Homo sapiens aldehyde dehydrogenase 16 family, member A1, mRNA (cDNA clone IMAGE:5931507), partial cds.
BC035641 - Homo sapiens aldehyde dehydrogenase 16 family, member A1, mRNA (cDNA clone IMAGE:5547615), partial cds.
JD275853 - Sequence 256877 from Patent EP1572962.
JD412643 - Sequence 393667 from Patent EP1572962.
JD253746 - Sequence 234770 from Patent EP1572962.
JD274558 - Sequence 255582 from Patent EP1572962.
JD352880 - Sequence 333904 from Patent EP1572962.
JD367657 - Sequence 348681 from Patent EP1572962.
JD070642 - Sequence 51666 from Patent EP1572962.
DQ574561 - Homo sapiens piRNA piR-42673, complete sequence.

-  Other Names for This Gene
  Alternate Gene Symbols: A16A1_HUMAN, B4DLQ1, C9JBH6, ENST00000293350.1, ENST00000293350.2, ENST00000293350.3, ENST00000293350.4, ENST00000293350.5, ENST00000293350.6, ENST00000293350.7, ENST00000293350.8, NM_153329, Q86YF0, Q8IYL4, Q8IZ83, Q8TEI8, uc002pnt.1, uc002pnt.2, uc002pnt.3, uc002pnt.4, uc002pnt.5
UCSC ID: ENST00000293350.9
RefSeq Accession: NM_153329
Protein: Q8IZ83 (aka A16A1_HUMAN)
CCDS: CCDS12766.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.