Human Gene ALDH3B2 (uc001oms.3) Description and Page Index
  Description: Homo sapiens aldehyde dehydrogenase 3 family, member B2 (ALDH3B2), transcript variant 2, mRNA.
RefSeq Summary (NM_001031615): This gene encodes a member of the aldehyde dehydrogenase family, a group of isozymes that may play a major role in the detoxification of aldehydes generated by alcohol metabolism and lipid peroxidation. The gene of this particular family member is over 10 kb in length. Altered methylation patterns at this locus have been observed in spermatozoa derived from patients exhibiting reduced fecundity. [provided by RefSeq, Aug 2017].
Transcript (Including UTRs)
   Position: hg19 chr11:67,429,633-67,448,685 Size: 19,053 Total Exon Count: 10 Strand: -
Coding Region
   Position: hg19 chr11:67,430,686-67,434,406 Size: 3,721 Coding Exon Count: 8 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr11:67,429,633-67,448,685)mRNA (may differ from genome)Protein (385 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblEntrez GeneExonPrimerGeneCardsGeneNetwork
H-INVHGNCHPRDLynxMGIneXtProt
OMIMPubMedReactomeStanford SOURCEUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: AL3B2_HUMAN
DESCRIPTION: RecName: Full=Aldehyde dehydrogenase family 3 member B2; EC=1.2.1.5; AltName: Full=Aldehyde dehydrogenase 8;
CATALYTIC ACTIVITY: An aldehyde + NAD(P)(+) + H(2)O = a carboxylate + NAD(P)H.
PATHWAY: Alcohol metabolism; ethanol degradation; acetate from ethanol: step 2/2.
TISSUE SPECIFICITY: Salivary gland.
SIMILARITY: Belongs to the aldehyde dehydrogenase family.

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): ALDH3B2
CDC HuGE Published Literature: ALDH3B2

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
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-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 75.53 RPKM in Esophagus - Mucosa
Total median expression: 254.63 RPKM



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

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -111.70283-0.395 Picture PostScript Text
3' UTR -358.311053-0.340 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
IPR016160 - Ald_DH_CS
IPR016162 - Ald_DH_N
IPR015590 - Aldehyde_DH_dom
IPR012394 - Aldehyde_DH_NAD(P)

Pfam Domains:
PF00171 - Aldehyde dehydrogenase family

SCOP Domains:
53720 - ALDH-like

ModBase Predicted Comparative 3D Structure on P48448
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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
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
      
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004028 3-chloroallyl aldehyde dehydrogenase activity
GO:0004030 aldehyde dehydrogenase [NAD(P)+] 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:0006066 alcohol metabolic process
GO:0006068 ethanol catabolic process
GO:0006629 lipid metabolic process
GO:0008152 metabolic process
GO:0030148 sphingolipid biosynthetic process
GO:0055114 oxidation-reduction process

Cellular Component:
GO:0005811 lipid particle


-  Descriptions from all associated GenBank mRNAs
  BC007685 - Homo sapiens aldehyde dehydrogenase 3 family, member B2, mRNA (cDNA clone MGC:3627 IMAGE:3636326), complete cds.
AK092464 - Homo sapiens cDNA FLJ35145 fis, clone PLACE6009853, highly similar to ALDEHYDE DEHYDROGENASE 8 (EC 1.2.1.5).
U37519 - Human aldehyde dehydrogenase (ALDH8) mRNA, complete cds.
JD248798 - Sequence 229822 from Patent EP1572962.
JD133330 - Sequence 114354 from Patent EP1572962.
JD369471 - Sequence 350495 from Patent EP1572962.
JD101012 - Sequence 82036 from Patent EP1572962.
JD473542 - Sequence 454566 from Patent EP1572962.
JD484371 - Sequence 465395 from Patent EP1572962.
JD521387 - Sequence 502411 from Patent EP1572962.
JD459967 - Sequence 440991 from Patent EP1572962.
JD451231 - Sequence 432255 from Patent EP1572962.
JD292830 - Sequence 273854 from Patent EP1572962.
JD055717 - Sequence 36741 from Patent EP1572962.
JD392272 - Sequence 373296 from Patent EP1572962.
JD060072 - Sequence 41096 from Patent EP1572962.
JD380379 - Sequence 361403 from Patent EP1572962.
JD122530 - Sequence 103554 from Patent EP1572962.
JD523916 - Sequence 504940 from Patent EP1572962.
JD098635 - Sequence 79659 from Patent EP1572962.
JD234609 - Sequence 215633 from Patent EP1572962.
JD131555 - Sequence 112579 from Patent EP1572962.
AK299956 - Homo sapiens cDNA FLJ57426 complete cds, highly similar to Aldehyde dehydrogenase 3B2 (EC 1.2.1.5).
JD491877 - Sequence 472901 from Patent EP1572962.
JD444643 - Sequence 425667 from Patent EP1572962.
JD478826 - Sequence 459850 from Patent EP1572962.
JD555483 - Sequence 536507 from Patent EP1572962.
JD306924 - Sequence 287948 from Patent EP1572962.
JD103563 - Sequence 84587 from Patent EP1572962.
KJ896409 - Synthetic construct Homo sapiens clone ccsbBroadEn_05803 ALDH3B2 gene, encodes complete protein.
BT006810 - Homo sapiens aldehyde dehydrogenase 3 family, member B2 mRNA, complete cds.
DQ890541 - Synthetic construct clone IMAGE:100003171; FLH163882.01X; RZPDo839A05162D aldehyde dehydrogenase 3 family, member B2 (ALDH3B2) gene, encodes complete protein.
DQ893702 - Synthetic construct Homo sapiens clone IMAGE:100008162; FLH163878.01L; RZPDo839A05161D aldehyde dehydrogenase 3 family, member B2 (ALDH3B2) gene, encodes complete protein.
CU675759 - Synthetic construct Homo sapiens gateway clone IMAGE:100019188 5' read ALDH3B2 mRNA.
AK309277 - Homo sapiens cDNA, FLJ99318.
JD260352 - Sequence 241376 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa00010 - Glycolysis / Gluconeogenesis
hsa00340 - Histidine metabolism
hsa00350 - Tyrosine metabolism
hsa00360 - Phenylalanine metabolism
hsa00980 - Metabolism of xenobiotics by cytochrome P450
hsa00982 - Drug metabolism - cytochrome P450
hsa01100 - Metabolic pathways

Reactome (by CSHL, EBI, and GO)

Protein P48448 (Reactome details) participates in the following event(s):

R-HSA-6808464 ALDH3B2 oxidises HXAL to PALM
R-HSA-1660661 Sphingolipid de novo biosynthesis
R-HSA-428157 Sphingolipid metabolism
R-HSA-556833 Metabolism of lipids
R-HSA-1430728 Metabolism

-  Other Names for This Gene
  Alternate Gene Symbols: AL3B2_HUMAN, ALDH8, NM_001031615, NP_001026786, P48448, Q53Y98, Q8NAL5, Q96IB2
UCSC ID: uc001oms.3
RefSeq Accession: NM_001031615
Protein: P48448 (aka AL3B2_HUMAN or DHA8_HUMAN)
CCDS: CCDS31622.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_001031615.1
exon count: 10CDS single in 3' UTR: no RNA size: 2504
ORF size: 1158CDS single in intron: no Alignment % ID: 99.88
txCdsPredict score: 2338.00frame shift in genome: no % Coverage: 99.60
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

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