Aldh9a1 aldehyde dehydrogenase 9, subfamily A1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Aldh9a1provided by MGI
Official Full Name: aldehyde dehydrogenase 9, subfamily A1provided by MGI
Primary source: MGI:MGI:1861622
See related: Ensembl:ENSMUSG00000026687 AllianceGenome:MGI:1861622
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Abaldh; ESTM40; Tmabadh; TMABA-DH
Summary: Enables 4-trimethylammoniobutyraldehyde dehydrogenase activity. Involved in carnitine biosynthetic process. Acts upstream of or within carnitine metabolic process. Located in cytosol. Is expressed in several structures, including alimentary system; cranium; male reproductive gland or organ; metanephros; and nervous system. Orthologous to human ALDH9A1 (aldehyde dehydrogenase 9 family member A1). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Ubiquitous expression in kidney adult (RPKM 54.7), liver adult (RPKM 50.7) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 1 H2.3; 1 74.74 cM

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	1	NC_000067.7 (167177560..167196100)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	1	NC_000067.6 (167349963..167368530)

Chromosome 1 - NC_000067.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

TMABA-DH gene is a direct PPARalpha target gene. this finding confirm that PPARalpha plays a key role in the regulation of carnitine homeostasis by controlling genes involved in carnitine synthesis and carnitine uptake.
Title: The mouse gene encoding the carnitine biosynthetic enzyme 4-N-trimethylaminobutyraldehyde dehydrogenase is regulated by peroxisome proliferator-activated receptor α.

Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (2)
Targeted (2)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Aldh9a1 (e-PCR), detects polymorphism
- UniSTS:545891

AA139417 (e-PCR), detects polymorphism
- UniSTS:143026

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables 4-trimethylammoniobutyraldehyde dehydrogenase activity	IBA Inferred from Biological aspect of Ancestor more info
enables 4-trimethylammoniobutyraldehyde dehydrogenase activity	IDA Inferred from Direct Assay more info	PubMed
enables 4-trimethylammoniobutyraldehyde dehydrogenase activity	ISO Inferred from Sequence Orthology more info
enables 4-trimethylammoniobutyraldehyde dehydrogenase activity	ISS Inferred from Sequence or Structural Similarity more info
enables NAD binding	ISO Inferred from Sequence Orthology more info
enables aldehyde dehydrogenase (NAD+) activity	ISO Inferred from Sequence Orthology more info
enables aldehyde dehydrogenase (NAD+) activity	ISS Inferred from Sequence or Structural Similarity more info
enables amine binding	ISO Inferred from Sequence Orthology more info
enables aminobutyraldehyde dehydrogenase (NAD+) activity	IBA Inferred from Biological aspect of Ancestor more info
enables aminobutyraldehyde dehydrogenase (NAD+) activity	ISO Inferred from Sequence Orthology more info
enables aminobutyraldehyde dehydrogenase (NAD+) activity	ISS Inferred from Sequence or Structural Similarity more info
enables formaldehyde dehydrogenase (NAD+) activity	ISO Inferred from Sequence Orthology more info
enables formaldehyde dehydrogenase (NAD+) activity	ISS Inferred from Sequence or Structural Similarity more info
enables identical protein binding	ISO Inferred from Sequence Orthology more info
enables oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor	IDA Inferred from Direct Assay more info	PubMed
enables small molecule binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in aldehyde metabolic process	ISO Inferred from Sequence Orthology more info
involved_in aldehyde metabolic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in carnitine biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
involved_in carnitine biosynthetic process	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within carnitine metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in protein homotetramerization	ISO Inferred from Sequence Orthology more info
involved_in protein homotetramerization	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in cytosol	IDA Inferred from Direct Assay more info	PubMed
is_active_in cytosol	ISO Inferred from Sequence Orthology more info	PubMed
located_in mitochondrion	HDA more info	PubMed

General protein information

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Preferred Names: 4-trimethylaminobutyraldehyde dehydrogenase

Names: aldehyde dehydrogenase family 9 member A1; formaldehyde dehydrogenase; gamma-aminobutyraldehyde dehydrogenase

NP_001389759.1

EC 1.2.1.19

EC 1.2.1.3

EC 1.2.1.46

EC 1.2.1.47

NP_001389768.1

EC 1.2.1.19

EC 1.2.1.3

EC 1.2.1.46

EC 1.2.1.47

NP_001389769.1

EC 1.2.1.19

EC 1.2.1.3

EC 1.2.1.46

EC 1.2.1.47

NP_001389773.1

EC 1.2.1.19

EC 1.2.1.3

EC 1.2.1.46

EC 1.2.1.47

NP_001389774.1

EC 1.2.1.19

EC 1.2.1.3

EC 1.2.1.46

EC 1.2.1.47

NP_001389775.1

EC 1.2.1.19

EC 1.2.1.3

EC 1.2.1.46

EC 1.2.1.47

NP_001392024.1

EC 1.2.1.19

EC 1.2.1.3

EC 1.2.1.46

EC 1.2.1.47

NP_064377.2

EC 1.2.1.19

EC 1.2.1.3

EC 1.2.1.46

EC 1.2.1.47

NCBI Reference Sequences (RefSeq)

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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.

mRNA and Protein(s)

NM_001402830.1 → NP_001389759.1 4-trimethylaminobutyraldehyde dehydrogenase isoform 2

Status: VALIDATED

Source sequence(s)

AC113970
NM_001402839.1 → NP_001389768.1 4-trimethylaminobutyraldehyde dehydrogenase isoform 2

Status: VALIDATED

Source sequence(s)

AC113970
NM_001402840.1 → NP_001389769.1 4-trimethylaminobutyraldehyde dehydrogenase isoform 2

Status: VALIDATED

Source sequence(s)

AC113970
NM_001402844.1 → NP_001389773.1 4-trimethylaminobutyraldehyde dehydrogenase isoform 3

Status: VALIDATED

Source sequence(s)

AC113970
NM_001402845.1 → NP_001389774.1 4-trimethylaminobutyraldehyde dehydrogenase isoform 4

Status: VALIDATED

Source sequence(s)

AC113970
NM_001402846.1 → NP_001389775.1 4-trimethylaminobutyraldehyde dehydrogenase isoform 5

Status: VALIDATED

Source sequence(s)

AC113970

UniProtKB/TrEMBL

Q3TG52, Q3V1N7
NM_001405095.1 → NP_001392024.1 4-trimethylaminobutyraldehyde dehydrogenase isoform 6

Status: VALIDATED

Source sequence(s)

AC113970
NM_019993.4 → NP_064377.2 4-trimethylaminobutyraldehyde dehydrogenase isoform 1

See identical proteins and their annotated locations for NP_064377.2

Status: VALIDATED

Source sequence(s)

AC113970

Consensus CDS

CCDS35765.1

UniProtKB/TrEMBL

Q3TG52, Q3V1N7

Related

ENSMUSP00000028004.10, ENSMUST00000028004.11

Conserved Domains (1) summary

cd07090
Location:55 → 512

ALDH_F9_TMBADH; NAD+-dependent 4-trimethylaminobutyraldehyde dehydrogenase, ALDH family 9A1