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ALDH4A1 aldehyde dehydrogenase 4 family member A1 [ Homo sapiens (human) ]

Gene ID: 8659, updated on 8-May-2016
Official Symbol
ALDH4A1provided by HGNC
Official Full Name
aldehyde dehydrogenase 4 family member A1provided by HGNC
Primary source
HGNC:HGNC:406
See related
Ensembl:ENSG00000159423 HPRD:06009; MIM:606811; Vega:OTTHUMG00000002443
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
P5CD; ALDH4; P5CDh
Summary
This protein belongs to the aldehyde dehydrogenase family of proteins. This enzyme is a mitochondrial matrix NAD-dependent dehydrogenase which catalyzes the second step of the proline degradation pathway, converting pyrroline-5-carboxylate to glutamate. Deficiency of this enzyme is associated with type II hyperprolinemia, an autosomal recessive disorder characterized by accumulation of delta-1-pyrroline-5-carboxylate (P5C) and proline. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jun 2009]
Orthologs
Location:
1p36
Exon count:
17
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 1 NC_000001.11 (18871430..18902799, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (19197924..19229293, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene paired box 7 Neighboring gene taste 1 receptor member 2 Neighboring gene microRNA 4695 Neighboring gene microRNA 1290 Neighboring gene intermediate filament family orphan 2 Neighboring gene uncharacterized LOC105376815

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • DKFZp779M035

Gene Ontology Provided by GOA

Function Evidence Code Pubs
1-pyrroline-5-carboxylate dehydrogenase activity EXP
Inferred from Experiment
more info
PubMed 
aldehyde dehydrogenase (NAD) activity IDA
Inferred from Direct Assay
more info
PubMed 
electron carrier activity TAS
Traceable Author Statement
more info
PubMed 
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
4-hydroxyproline catabolic process TAS
Traceable Author Statement
more info
PubMed 
glutamate biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
oxidation-reduction process IEA
Inferred from Electronic Annotation
more info
 
proline biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
proline catabolic process TAS
Traceable Author Statement
more info
 
proline catabolic process to glutamate IEA
Inferred from Electronic Annotation
more info
 
proline metabolic process TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
mitochondrial matrix TAS
Traceable Author Statement
more info
 
Preferred Names
delta-1-pyrroline-5-carboxylate dehydrogenase, mitochondrial
Names
L-glutamate gamma-semialdehyde dehydrogenase
P5C dehydrogenase
aldehyde dehydrogenase 4 family, member A1
aldehyde dehydrogenase family 4 member A1
mitochondrial delta-1-pyrroline 5-carboxylate dehydrogenase
NP_001154976.1
NP_003739.2
NP_733844.1

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_012283.1 RefSeqGene

    Range
    5001..36370
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001161504.1NP_001154976.1  delta-1-pyrroline-5-carboxylate dehydrogenase, mitochondrial isoform b

    See identical proteins and their annotated locations for NP_001154976.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) has an alternate 5' exon, compared to variant P5CDhL, resulting in a downstream AUG start codon. The resulting isoform (b) has a shorter N-terminus, compared to isoform a.
    Source sequence(s)
    AK294552, BC023600
    Consensus CDS
    CCDS53272.1
    UniProtKB/Swiss-Prot
    P30038
    Related
    ENSP00000442988, OTTHUMP00000275689, ENST00000538309, OTTHUMT00000476515
    Conserved Domains (1) summary
    cd07123
    Location:2493
    ALDH_F4-17_P5CDH; Delta(1)-pyrroline-5-carboxylate dehydrogenase, ALDH families 4 and 17
  2. NM_001319218.1NP_001306147.1  delta-1-pyrroline-5-carboxylate dehydrogenase, mitochondrial isoform c precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks an alternate in-frame exon compared to variant P5CDhL. The resulting isoform (c) has the same N- and C-termini but is shorter compared to isoform a.
    Source sequence(s)
    AL954340, BC023600, DC342814, FJ462711
    UniProtKB/Swiss-Prot
    P30038
    Conserved Domains (1) summary
    cd07123
    Location:32502
    ALDH_F4-17_P5CDH; Delta(1)-pyrroline-5-carboxylate dehydrogenase, ALDH families 4 and 17
  3. NM_003748.3NP_003739.2  delta-1-pyrroline-5-carboxylate dehydrogenase, mitochondrial isoform a precursor

    See identical proteins and their annotated locations for NP_003739.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (P5CDhL) represents the longest transcript. Both variants P5CDhL and P5CDhS encode the same protein (isoform a).
    Source sequence(s)
    BC023600, DC318624
    Consensus CDS
    CCDS188.1
    UniProtKB/Swiss-Prot
    P30038
    UniProtKB/TrEMBL
    A0A024RAD8
    Related
    ENSP00000364490, OTTHUMP00000002544, ENST00000375341, OTTHUMT00000006954
    Conserved Domains (1) summary
    cd07123
    Location:32553
    ALDH_F4-17_P5CDH; Delta(1)-pyrroline-5-carboxylate dehydrogenase, ALDH families 4 and 17
  4. NM_170726.2NP_733844.1  delta-1-pyrroline-5-carboxylate dehydrogenase, mitochondrial isoform a precursor

    See identical proteins and their annotated locations for NP_733844.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (P5CDhS) differs in the 3' UTR compared to variant P5CDhL. Both variants P5CDhL and P5CDhS encode the same protein (isoform a).
    Source sequence(s)
    BC023600, DC318624
    Consensus CDS
    CCDS188.1
    UniProtKB/Swiss-Prot
    P30038
    UniProtKB/TrEMBL
    A0A024RAD8
    Related
    ENSP00000290597, OTTHUMP00000002545, ENST00000290597, OTTHUMT00000006955
    Conserved Domains (1) summary
    cd07123
    Location:32553
    ALDH_F4-17_P5CDH; Delta(1)-pyrroline-5-carboxylate dehydrogenase, ALDH families 4 and 17

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p2 Primary Assembly

    Range
    18871430..18902799 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011542352.1XP_011540654.1  

    Related
    ENSP00000446071, ENST00000538839
    Conserved Domains (1) summary
    cd07123
    Location:32502
    ALDH_F4-17_P5CDH; Delta(1)-pyrroline-5-carboxylate dehydrogenase, ALDH families 4 and 17
  2. XM_011542353.1XP_011540655.1  

    Conserved Domains (1) summary
    cl11961
    Location:32226
    ALDH-SF; NAD(P)+-dependent aldehyde dehydrogenase superfamily

RNA

  1. XR_946786.1 RNA Sequence

Alternate CHM1_1.1

Genomic

  1. NC_018912.2 Alternate CHM1_1.1

    Range
    19307273..19338658 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)