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ALDH9A1 aldehyde dehydrogenase 9 family member A1 [ Homo sapiens (human) ]

Gene ID: 223, updated on 11-Sep-2019

Summary

Official Symbol
ALDH9A1provided by HGNC
Official Full Name
aldehyde dehydrogenase 9 family member A1provided by HGNC
Primary source
HGNC:HGNC:412
See related
Ensembl:ENSG00000143149 MIM:602733
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
E3; ALDH4; ALDH7; ALDH9; TMABADH; TMABA-DH; TMABALDH
Summary
This protein belongs to the aldehyde dehydrogenase family of proteins. It has a high activity for oxidation of gamma-aminobutyraldehyde and other amino aldehydes. The enzyme catalyzes the dehydrogenation of gamma-aminobutyraldehyde to gamma-aminobutyric acid (GABA). This isozyme is a tetramer of identical 54-kD subunits. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in fat (RPKM 90.6), thyroid (RPKM 83.5) and 25 other tissues See more
Orthologs

Genomic context

See ALDH9A1 in Genome Data Viewer
Location:
1q24.1
Exon count:
11
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (165662212..165698663, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (165631449..165667900, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene tRNA-Lys (anticodon CTT) 13-1 Neighboring gene microsomal glutathione S-transferase 3 Neighboring gene ribosomal protein S13 pseudogene 1 Neighboring gene ribosomal protein L21 pseudogene 27 Neighboring gene carbonic anhydrase 14 pseudogene Neighboring gene uncharacterized LOC105371581 Neighboring gene transmembrane and coiled-coil domains 1

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
1-pyrroline dehydrogenase activity IEA
Inferred from Electronic Annotation
more info
 
4-trimethylammoniobutyraldehyde dehydrogenase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
4-trimethylammoniobutyraldehyde dehydrogenase activity IDA
Inferred from Direct Assay
more info
PubMed 
aldehyde dehydrogenase (NAD) activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
aldehyde dehydrogenase (NAD) activity IDA
Inferred from Direct Assay
more info
PubMed 
aminobutyraldehyde dehydrogenase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
aminobutyraldehyde dehydrogenase activity IDA
Inferred from Direct Assay
more info
PubMed 
glyceraldehyde-3-phosphate dehydrogenase (NAD+) (non-phosphorylating) activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
carnitine biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
carnitine biosynthetic process TAS
Traceable Author Statement
more info
 
cellular aldehyde metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
hormone metabolic process TAS
Traceable Author Statement
more info
PubMed 
neurotransmitter biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
oxidation-reduction process IDA
Inferred from Direct Assay
more info
PubMed 
protein homotetramerization IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
cytoplasm TAS
Traceable Author Statement
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
extracellular exosome HDA PubMed 

General protein information

Preferred Names
4-trimethylaminobutyraldehyde dehydrogenase
Names
R-aminobutyraldehyde dehydrogenase
aldehyde dehydrogenase (NAD+)
aldehyde dehydrogenase E3 isozyme
aldehyde dehydrogenase family 9 member A1
gamma-aminobutyraldehyde dehydrogenase
NP_000687.3
NP_001352703.1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_012256.1 RefSeqGene

    Range
    5001..41452
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000696.3NP_000687.3  4-trimethylaminobutyraldehyde dehydrogenase isoform 1

    See identical proteins and their annotated locations for NP_000687.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AF172093, AL451074
    Consensus CDS
    CCDS1250.2
    UniProtKB/Swiss-Prot
    P49189
    UniProtKB/TrEMBL
    B9EKV4
    Related
    ENSP00000346827.4, ENST00000354775.4
    Conserved Domains (1) summary
    cd07090
    Location:55512
    ALDH_F9_TMBADH; NAD+-dependent 4-trimethylaminobutyraldehyde dehydrogenase, ALDH family 9A1
  2. NM_001365774.2NP_001352703.1  4-trimethylaminobutyraldehyde dehydrogenase isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (2) is shorter at the N-terminus compared to isoform 1.
    Source sequence(s)
    AL451074
    Conserved Domains (1) summary
    cd07090
    Location:1418
    ALDH_F9_TMBADH; NAD+-dependent 4-trimethylaminobutyraldehyde dehydrogenase, ALDH family 9A1

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    165662212..165698663 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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