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ALDH6A1 aldehyde dehydrogenase 6 family member A1 [ Homo sapiens (human) ]

Gene ID: 4329, updated on 1-Jun-2020

Summary

Official Symbol
ALDH6A1provided by HGNC
Official Full Name
aldehyde dehydrogenase 6 family member A1provided by HGNC
Primary source
HGNC:HGNC:7179
See related
Ensembl:ENSG00000119711 MIM:603178
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
MMSDH; MMSADHA
Summary
This gene encodes a member of the aldehyde dehydrogenase protein family. The encoded protein is a mitochondrial methylmalonate semialdehyde dehydrogenase that plays a role in the valine and pyrimidine catabolic pathways. This protein catalyzes the irreversible oxidative decarboxylation of malonate and methylmalonate semialdehydes to acetyl- and propionyl-CoA. Methylmalonate semialdehyde dehydrogenase deficiency is characterized by elevated beta-alanine, 3-hydroxypropionic acid, and both isomers of 3-amino and 3-hydroxyisobutyric acids in urine organic acids. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jun 2013]
Expression
Biased expression in kidney (RPKM 142.3), liver (RPKM 67.8) and 11 other tissues See more
Orthologs

Genomic context

See ALDH6A1 in Genome Data Viewer
Location:
14q24.3
Exon count:
12
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 14 NC_000014.9 (74056847..74084453, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (74524365..74551196, complement)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene ectonucleoside triphosphate diphosphohydrolase 5 (inactive) Neighboring gene ribosomal protein L41 pseudogene 4 Neighboring gene Sharpr-MPRA regulatory regions 4216 and 10298 Neighboring gene basal body orientation factor 1 Neighboring gene uncharacterized LOC105370563 Neighboring gene RNY4 pseudogene 21 Neighboring gene lin-52 DREAM MuvB core complex component

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?

Phenotypes

Associated conditions

Description Tests
Methylmalonate semialdehyde dehydrogenase deficiency
MedGen: C3279840 OMIM: 614105 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
Web-based, participant-driven studies yield novel genetic associations for common traits.
NHGRI GWA Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC40271

Gene Ontology Provided by GOA

Function Evidence Code Pubs
RNA binding HDA PubMed 
fatty-acyl-CoA binding ISS
Inferred from Sequence or Structural Similarity
more info
 
malonate-semialdehyde dehydrogenase (acetylating) activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
malonate-semialdehyde dehydrogenase (acetylating) activity ISS
Inferred from Sequence or Structural Similarity
more info
 
methylmalonate-semialdehyde dehydrogenase (acylating) activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
methylmalonate-semialdehyde dehydrogenase (acylating) activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
methylmalonate-semialdehyde dehydrogenase (acylating) activity ISS
Inferred from Sequence or Structural Similarity
more info
 
methylmalonate-semialdehyde dehydrogenase (acylating) activity TAS
Traceable Author Statement
more info
 
Process Evidence Code Pubs
branched-chain amino acid catabolic process TAS
Traceable Author Statement
more info
 
brown fat cell differentiation IEA
Inferred from Electronic Annotation
more info
 
oxidation-reduction process IEA
Inferred from Electronic Annotation
more info
 
thymine catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
thymine catabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
thymine metabolic process ISS
Inferred from Sequence or Structural Similarity
more info
 
valine catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
valine catabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
valine metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
valine metabolic process ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
mitochondrial matrix TAS
Traceable Author Statement
more info
 
mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrion IDA
Inferred from Direct Assay
more info
 
mitochondrion NAS
Non-traceable Author Statement
more info
PubMed 
nucleoplasm IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
methylmalonate-semialdehyde dehydrogenase [acylating], mitochondrial
Names
malonate-semialdehyde dehydrogenase
malonate-semialdehyde dehydrogenase (acetylating)
mitochondrial acylating methylmalonate-semialdehyde dehydrogenase
testicular tissue protein Li 122
NP_001265522.1
NP_001265523.1
NP_005580.1
XP_016876820.1

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_012257.2 RefSeqGene

    Range
    5041..32647
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001278593.2NP_001265522.1  methylmalonate-semialdehyde dehydrogenase [acylating], mitochondrial isoform 2 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region, compared to variant 1. This results in a shorter protein (isoform 2), compared to isoform 1.
    Source sequence(s)
    AC005484, AI244036, AK294243
    Consensus CDS
    CCDS61501.1
    UniProtKB/Swiss-Prot
    Q02252
    Related
    ENSP00000342564.4, ENST00000350259.8
    Conserved Domains (1) summary
    cd07085
    Location:40503
    ALDH_F6_MMSDH; Methylmalonate semialdehyde dehydrogenase and ALDH family members 6A1 and 6B2
  2. NM_001278594.2NP_001265523.1  methylmalonate-semialdehyde dehydrogenase [acylating], mitochondrial isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses an alternate in-frame splice site in the 3' coding region and uses a downstream start codon compared to variant 1, compared to variant 1. The encoded protein (isoform 3) has a shorter N-terminus, compared to isoform 1.
    Source sequence(s)
    AC005484, AI244036, AK311478
    Conserved Domains (1) summary
    cd07085
    Location:1362
    ALDH_F6_MMSDH; Methylmalonate semialdehyde dehydrogenase and ALDH family members 6A1 and 6B2
  3. NM_005589.4NP_005580.1  methylmalonate-semialdehyde dehydrogenase [acylating], mitochondrial isoform 1 precursor

    See identical proteins and their annotated locations for NP_005580.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AC005484, AI244036, BC032371
    Consensus CDS
    CCDS9826.1
    UniProtKB/Swiss-Prot
    Q02252
    UniProtKB/TrEMBL
    A0A024R6G4
    Related
    ENSP00000450436.1, ENST00000553458.6
    Conserved Domains (1) summary
    cd07085
    Location:40516
    ALDH_F6_MMSDH; Methylmalonate semialdehyde dehydrogenase and ALDH family members 6A1 and 6B2

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p13 Primary Assembly

    Range
    74056847..74084453 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017021331.2XP_016876820.1  methylmalonate-semialdehyde dehydrogenase [acylating], mitochondrial isoform X1

    Related
    ENST00000554501.5
    Conserved Domains (1) summary
    cd07085
    Location:1362
    ALDH_F6_MMSDH; Methylmalonate semialdehyde dehydrogenase and ALDH family members 6A1 and 6B2
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