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ALDH5A1 aldehyde dehydrogenase 5 family member A1 [ Homo sapiens (human) ]

Gene ID: 7915, updated on 11-Jul-2021

Summary

Official Symbol
ALDH5A1provided by HGNC
Official Full Name
aldehyde dehydrogenase 5 family member A1provided by HGNC
Primary source
HGNC:HGNC:408
See related
Ensembl:ENSG00000112294 MIM:610045
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
SSDH; SSADH
Summary
This protein belongs to the aldehyde dehydrogenase family of proteins. This gene encodes a mitochondrial NAD(+)-dependent succinic semialdehyde dehydrogenase. A deficiency of this enzyme, known as 4-hydroxybutyricaciduria, is a rare inborn error in the metabolism of the neurotransmitter 4-aminobutyric acid (GABA). In response to the defect, physiologic fluids from patients accumulate GHB, a compound with numerous neuromodulatory properties. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in liver (RPKM 26.0), brain (RPKM 18.3) and 23 other tissues See more
Orthologs
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Genomic context

See ALDH5A1 in Genome Data Viewer
Location:
6p22.3
Exon count:
11
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (24494969..24537207)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (24495197..24537435)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene doublecortin domain containing 2 Neighboring gene RNA, U6 small nuclear 391, pseudogene Neighboring gene magnesium transporter MRS2 Neighboring gene glycosylphosphatidylinositol specific phospholipase D1 Neighboring gene KIAA0319 Neighboring gene keratin 8 pseudogene 43 Neighboring gene Sharpr-MPRA regulatory region 5933 Neighboring gene tyrosyl-DNA phosphodiesterase 2

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 PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables succinate-semialdehyde dehydrogenase (NAD+) activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables succinate-semialdehyde dehydrogenase (NAD+) activity IDA
Inferred from Direct Assay
more info
PubMed 
enables succinate-semialdehyde dehydrogenase (NAD+) activity ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
Process Evidence Code Pubs
involved_in central nervous system development IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in gamma-aminobutyric acid catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
involved_in gamma-aminobutyric acid catabolic process IEA
Inferred from Electronic Annotation
more info
 
involved_in gamma-aminobutyric acid catabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in glutamate metabolic process ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in neurotransmitter catabolic process ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in post-embryonic development IEA
Inferred from Electronic Annotation
more info
 
involved_in succinate metabolic process ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
located_in mitochondrial matrix TAS
Traceable Author Statement
more info
 
located_in mitochondrion HDA PubMed 
located_in mitochondrion IDA
Inferred from Direct Assay
more info
 
located_in mitochondrion ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

Preferred Names
succinate-semialdehyde dehydrogenase, mitochondrial
Names
NAD(+)-dependent succinic semialdehyde dehydrogenase
mitochondrial succinate semialdehyde dehydrogenase
NP_001071.1
NP_001355883.1
NP_733936.1

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.

Genomic

  1. NG_008161.1 RefSeqGene

    Range
    5001..47239
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001080.3NP_001071.1  succinate-semialdehyde dehydrogenase, mitochondrial isoform 2 precursor

    See identical proteins and their annotated locations for NP_001071.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an in-frame segment of the coding region, compared to variant 1. It encodes a shorter isoform (2), that is missing an internal segment compared to isoform 1.
    Source sequence(s)
    AL031230
    Consensus CDS
    CCDS4555.1
    UniProtKB/Swiss-Prot
    P51649
    UniProtKB/TrEMBL
    X5DQN2
    Related
    ENSP00000350191.3, ENST00000357578.8
    Conserved Domains (1) summary
    TIGR01780
    Location:78528
    SSADH; succinate-semialdehyde dehydrogenase
  2. NM_001368954.1NP_001355883.1  succinate-semialdehyde dehydrogenase, mitochondrial isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks two consecutive, in-frame, alternate exons, compared to variant 1. It encodes isoform 3, which is shorter than isoform 1.
    Source sequence(s)
    AL031230
    Related
    ENSP00000500876.1, ENST00000672352.1
    Conserved Domains (1) summary
    cl11961
    Location:78480
    ALDH-SF; NAD(P)+-dependent aldehyde dehydrogenase superfamily
  3. NM_170740.1NP_733936.1  succinate-semialdehyde dehydrogenase, mitochondrial isoform 1 precursor

    See identical proteins and their annotated locations for NP_733936.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript, and encodes the longer isoform (1).
    Source sequence(s)
    AL031230
    Consensus CDS
    CCDS4556.1
    UniProtKB/Swiss-Prot
    P51649
    UniProtKB/TrEMBL
    X5D299
    Related
    ENSP00000314649.3, ENST00000348925.2
    Conserved Domains (1) summary
    TIGR01780
    Location:78541
    SSADH; succinate-semialdehyde dehydrogenase

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p13 Primary Assembly

    Range
    24494969..24537207
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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