ALDH16A1 Gene
protein-coding GIFtS: 51
GCID: GC19P049958
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aldehyde dehydrogenase 16 family, member A1
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Aliases for ALDH16A1 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb) About This Section
|
| Aliases |
|---|
| Aldehyde Dehydrogenase 16 Family, Member A11 2 | | MGC102041 | | Aldehyde Dehydrogenase Family 16 Member A12 |
Export aliases for ALDH16A1 gene to outside databasesPrevious GC identifers: GC19P054649 GC19P046333 |
Summaries for ALDH16A1 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| Entrez Gene summary for ALDH16A1: This gene encodes a member of the aldehyde dehydrogenase superfamily. The family members act on aldehyde substrates anduse 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 isresponsible for Mast syndrome. Alternatively spliced transcript variants encoding different isoforms have been foundfor this gene. (provided by RefSeq, Apr 2010) Gene Wiki entry for ALDH16A1
|
Genomic Views for ALDH16A1 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics) About This Section
| RefSeq DNA sequence:- NC_000019.9 NC_018930.1 NT_011109.16
Regulatory elements: SABiosciences Regulatory transcription factor binding sites in the ALDH16A1 gene promoter: C/EBPbeta Pax-5 Tal-1beta MZF-1 CREB CP2 deltaCREB HOXA5 MRF-2 ITF-2 Other transcription factors
Search SABiosciences Chromatin IP Primers for ALDH16A1
Epigenetics:
|  | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ALDH16A1 |
Genomic Location: Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 19q13.33 Ensembl cytogenetic band: 19q13.33 HGNC cytogenetic band: 19q13.33ALDH16A1 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different)

GeneLoc information about chromosome 19 GeneLoc Exon Structure GeneLoc location for GC19P049958: view genomic region
(about GC identifiers)
Start:
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49,956,473 bp from pter |
End:
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49,974,305 bp from pter |
Size:
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17,833 bases |
Orientation:
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plus strand |
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Proteins for ALDH16A1 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
| UniProtKB/Swiss-Prot: A16A1_HUMAN, Q8IZ83 (See
protein sequence)Recommended Name: Aldehyde dehydrogenase family 16 member A1 Size: 802 amino acids; 85127 Da
Subunit: Interacts with SPG21
Caution: The active site cysteine and glutamate residues are not conserved in this protein. Its activity is thereforeunsure
Sequence caution: Sequence=AAH35641.1; Type=Erroneous initiation; Sequence=BAB84962.1; Type=Erroneous translation;Note=Wrong choice of frame;
Secondary accessions: B4DLQ1 C9JBH6 Q86YF0 Q8IYL4 Q8TEI8Alternative splicing: 3 isoforms: Q8IZ83-1 Q8IZ83-2 Q8IZ83-3 (No experimental confirmation available)Explore the universe of human proteins at neXtProt for ALDH16A1: NX_Q8IZ83
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q8IZ83 ALDH16A1 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins (2 alternative transcripts):
NP_001138868.1 NP_699160.2 ENSEMBL proteins: ENSP00000293350 ENSP00000410142 ENSP00000445088 ENSP00000398675 Human Recombinant Protein Products:
ALDH16A1 Antibody Products: Assay Products for ALDH16A1: |
Protein
Domains / Families for ALDH16A1 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
ALDH16A1 for domains About GeneDecksing
5 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry Q8IZ83ProtoNet protein and cluster: Q8IZ83 UniProtKB/Swiss-Prot: A16A1_HUMAN, Q8IZ83Similarity: Belongs to the aldehyde dehydrogenase family |
Function for ALDH16A1 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Clone Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ALDH16A1 (see all 4) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ALDH16A1 (see all 3) OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector (see all 2): ALDH16A1 (NM_153329) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for ALDH16A1 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ALDH16A1  |
In Situ Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ALDH16A1 |
Gene Ontology (GO): 1 molecular function term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0016620 | oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor |
IEA | -- |
ALDH16A1 for ontologies About GeneDecksing
3 GenomeRNAi human phenotypes for ALDH16A1: Animal Models: 3 MGI mutant phenotypes (inferred from 1 allele ) (MGI details for Aldh16a1):
ALDH16A1 for phenotypes About GeneDecksing
|
Pathways & Interactions for ALDH16A1 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ALDH16A1
STRING Interaction
Network Preview (showing 5 interactants - click image to see more details)
 5/13 Interacting proteins for ALDH16A1 (Q8IZ833 ENSP000002933504) via UniProtKB, MINT, STRING, and/or I2D (see all 13)About this table
|
Drugs & Compounds for ALDH16A1 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
Browse Tocris compounds for ALDH16A1 Search CenterWatch for drugs/clinical trials and news about ALDH16A1 / A16A1 
|
Transcripts for ALDH16A1 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank, RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
) About This Section
| REFSEQ mRNAs for ALDH16A1 gene (2 alternative transcripts): NM_001145396.1 NM_153329.3 Unigene Cluster for ALDH16A1: Aldehyde dehydrogenase 16 family, member A1 Hs.719998 [show with all ESTs]Unigene Representative Sequence: NM_1533294 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000293350(uc002pnt.3 uc010yas.2 uc010yat.2) ENST00000455361(uc010yar.2) ENST00000540132 ENST00000433981
Clone Products: |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ALDH16A1 (see all 4) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ALDH16A1 (see all 3) OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector (see all 2): ALDH16A1 (NM_153329) | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for ALDH16A1 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ALDH16A1  |
Additional cDNA sequence: AK297101.1 AK298587.1 AY007096.1 BC014895.2 BC035641.1 BC042142.1 11 DOTS entries: DT.428958 DT.100777795 DT.121505525 DT.95172250 DT.91756896 DT.100692034 DT.100713157 DT.121505496 DT.97806234 DT.100825023 DT.92417514 9 AceView cDNA sequences: AY007096 CR602601 CR608888 BC035641 BC042142 AK024182 BC014895 AK074136 NM_153329 GeneLoc Exon Structure
4 Alternative Splicing Database (ASD) splice patterns (SP) for ALDH16A1 About this scheme
| 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: | |   | |   | |   | |   | |   | |   | |   | |   | - |   | - |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   |
ECgene alternative splicing isoforms for ALDH16A1
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Expression for ALDH16A1 gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| ALDH16A1 expression in normal human tissues (normalized intensities) See probesets specificity/sensitivity at GeneAnnot About this imageBioGPS CGAP TAG: GCCCCAGAAT
About this image See ALDH16A1 Protein Expression from SPIRE MOPED and PaxDB Genevestigator expression for ALDH16A1
SOURCE GeneReport for Unigene cluster: Hs.719998 SABiosciences Custom PCR Arrays for ALDH16A1
Primer Products: |  | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for ALDH16A1 Browse OriGene validated miRNA SYBR primer pairs
| |  | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat ALDH16A1 | |  | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ALDH16A1 | |  | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ALDH16A1 | In Situ Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ALDH16A1 |
Orthologs for ALDH16A1 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of eukaryotes.
Orthologs for ALDH16A1 gene from 7/26 species (see all 26) About this table
ENSEMBL Gene Tree for ALDH16A1 (if available) TreeFam Gene Tree for ALDH16A1 (if available)  |
Paralogs for ALDH16A1 gene(Paralogs according to
1HomoloGene, 2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68) About This Section
| Paralogs for ALDH16A1 gene
- ALDH1L22 ALDH1A12 ENSG000002577672 ALDH1A22 ALDH1B12 ALDH7A12 ALDH22 ALDH8A12
- ALDH9A12 ALDH1L12 ALDH1A32
1 SIMAP similar gene for ALDH16A1 using alignment to 5 protein entries: A16A1_HUMAN (see all proteins):ALDH8A1
ALDH16A1 for paralogs About GeneDecksing
|
Genomic Variants for ALDH16A1 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical significance | Chr 19 pos | Sequence | # | AA Chg | Type | More | # | Allele freq | Pop | Total sample | More |
|---|
HapMap Linkage Disequilibrium report for ALDH16A1 (49956473 - 49974305 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV): 5 variations for ALDH16A1 4 CNVs: 35661 5111 5110 32261 1 Indel: 26313 Human Gene Mutation Database (HGMD): ALDH16A1
 | SABiosciences Cancer Mutation PCR Assays |
|  | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ALDH16A1 |
|
Disorders
/ Diseases for ALDH16A1 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
ALDH16A1 for disorders About GeneDecksing
OMIM gene information: 613358
OMIM disorders: --
6 diseases for ALDH16A1: About MalaCardsmast syndrome spastic paraplegia paraplegia spasticity tuberculosis mycobacterium tuberculosis 1 disease from the University of Copenhagen DISEASES database for ALDH16A1:Paraplegia Human Genome Epidemiology (HuGE) Navigator: ALDH16A1 (1 document) Export disorders for ALDH16A1 gene to outside databases
|
Publications for ALDH16A1 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for ALDH16A1 gene, integrated from 9 sources (see all 20): (articles sorted by number of sources associating them with ALDH16A1) | |  | Utopia: connect your pdf to the dynamic world of online information |
- Interaction of the SPG21 protein ACP33/maspardin with the aldehyde dehydrogenase ALDH16A1. (PubMed id 19184135)1, 2 Hanna M.C. and Blackstone C. (2009)
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
- Methods for quantification of in vivo changes in prote in ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (2012)
- Functional dissection of lysine deacetylases reveals t hat HDAC1 and p300 regulate AMPK. (PubMed id 22318606)1 Lin Y.Y....Boeke J.D. (2012)
- A high-throughput approach for measuring temporal chan ges in the interactome. (PubMed id 22863883)1 Kristensen A.R....Foster L.J. (2012)
- Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
- A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)
- Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
- Ubiquitin ligase substrate identification through qua ntitative proteomics at both the protein and peptide levels. (PubMed id 21987572)1 Lee K.A....Doedens J.R. (2011)
- Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
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External Searches for ALDH16A1 gene
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
|
|
Genome Databases showing ALDH16A1 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing ALDH16A1 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing ALDH16A1 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL, Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot) About This Section
|
| Name | Description |
| PharmGKB entry for ALDH16A1 | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for ALDH16A1 gene: Search GeneIP for patents involving ALDH16A1
GeneCards and IP: Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products for ALDH16A1 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences), In Situ Hybridization Assays from Advanced Cell Diagnostics About This Section
|
 | |
 | |
 |
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| | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat ALDH16A1 | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ALDH16A1 | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ALDH16A1 | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ALDH16A1 | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ALDH16A1 | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ALDH16A1 |
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 | | ALDH16A1 Proteins, Antibodies, CLIAs, and ELISAs |
| | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ALDH16A1 |
|  |  |  | | | Search ThermoFisher Antibodies for ALDH16A1 |
| | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ALDH16A1 |
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