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

Gene ID: 8659, updated on 8-Oct-2018

Summary

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 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]
Expression
Biased expression in kidney (RPKM 122.2), liver (RPKM 68.8) and 8 other tissues See more
Orthologs

Genomic context

See ALDH4A1 in Genome Data Viewer
Location:
1p36.13
Exon count:
16
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 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 PAX7 intron homotypic clusters of transcription factor binding sites enhancer Neighboring gene paired box 7 Neighboring gene taste 1 receptor member 2 Neighboring gene microRNA 4695 Neighboring gene microRNA 1290 Neighboring gene Sharpr-MPRA regulatory regions 2400 and 6542 Neighboring gene intermediate filament family orphan 2 Neighboring gene uncharacterized LOC105376815

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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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 
1-pyrroline-5-carboxylate dehydrogenase activity IBA
Inferred from Biological aspect of Ancestor
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 
electron transfer activity TAS
Traceable Author Statement
more info
PubMed 
identical protein binding IBA
Inferred from Biological aspect of Ancestor
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 
electron transport chain IEA
Inferred from Electronic Annotation
more info
 
glyoxylate metabolic process TAS
Traceable Author Statement
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
 

General protein information

Preferred Names
delta-1-pyrroline-5-carboxylate dehydrogenase, mitochondrial
Names
L-glutamate gamma-semialdehyde dehydrogenase
P5C dehydrogenase
aldehyde dehydrogenase family 4 member A1
epididymis secretory sperm binding protein
mitochondrial delta-1-pyrroline 5-carboxylate dehydrogenase
NP_001154976.1
NP_001306147.1
NP_003739.2
NP_733844.1

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_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
    ENSP00000442988.1, OTTHUMP00000275689, ENST00000538309.5, 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
    Consensus CDS
    CCDS81273.1
    UniProtKB/Swiss-Prot
    P30038
    Related
    ENSP00000446071.1, ENST00000538839.5
    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
    ENSP00000364490.3, OTTHUMP00000002544, ENST00000375341.7, 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
    ENSP00000290597.5, OTTHUMP00000002545, ENST00000290597.9, 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 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.p12 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p12 Primary Assembly

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

RNA

  1. XR_001737510.1 RNA Sequence

  2. XR_946786.1 RNA Sequence

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