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

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; AllianceGenome:HGNC:406
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: mouse all
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Genomic context

Location:: 1p36.13

Exon count:: 16

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (18871430..18902555, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (18691214..18722363, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (19197924..19229049, complement)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Atherosclerotic Autoantigen ALDH4A1 as a Novel Immunological Indicator for Plaque Erosion in Patients with ST Segment Elevated Myocardial Infarction.
Title: Atherosclerotic Autoantigen ALDH4A1 as a Novel Immunological Indicator for Plaque Erosion in Patients with ST Segment Elevated Myocardial Infarction.
Genetic variation in ALDH4A1 is associated with muscle health over the lifespan and across species.
Title: Genetic variation in ALDH4A1 is associated with muscle health over the lifespan and across species.
ALDH4A1 expression levels are elevated in postmortem brains of patients with schizophrenia and are associated with genetic variants in enzymes related to proline metabolism.
Title: ALDH4A1 expression levels are elevated in postmortem brains of patients with schizophrenia and are associated with genetic variants in enzymes related to proline metabolism.
ALDH4A1 is an atherosclerosis auto-antigen targeted by protective antibodies.
Title: ALDH4A1 is an atherosclerosis auto-antigen targeted by protective antibodies.
the impact of the hyperprolinemia-associated mutation of Ser352 to Leu on the structure and catalytic properties of the P5CDH
Title: The three-dimensional structural basis of type II hyperprolinemia.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
ALDH4 is a p53-inducible gene with a protective role in cellular stresses
Title: Identification of ALDH4 as a p53-inducible gene and its protective role in cellular stresses.
ALDH4 is transcriptionally induced by p53.
Title: Identification of ALDH4 as a p53-inducible gene and its protective role in cellular stresses.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Hyperprolinemia type 2 MedGen: C2931835 OMIM: 239510 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
Genetic variants associated with disordered eating. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-74312 (e-PCR)
- UniSTS:54787

SHGC-149828 (e-PCR)
- UniSTS:177246

D1S3604 (e-PCR)
- UniSTS:16287

RH80741 (e-PCR)
- UniSTS:91624

SHGC-74303 (e-PCR)
- UniSTS:62696

ALDH4A1_1756 (e-PCR)
- UniSTS:276990

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables 1-pyrroline-5-carboxylate dehydrogenase activity	IBA Inferred from Biological aspect of Ancestor more info
enables aldehyde dehydrogenase (NAD+) activity	IDA Inferred from Direct Assay more info	PubMed
enables electron transfer activity	TAS Traceable Author Statement more info	PubMed
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in 4-hydroxyproline catabolic process	TAS Traceable Author Statement more info	PubMed
involved_in proline catabolic process	TAS Traceable Author Statement more info	PubMed
involved_in proline catabolic process to glutamate	IEA Inferred from Electronic Annotation more info
involved_in proline metabolic process	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in cytosol	IDA Inferred from Direct Assay more info
located_in mitochondrial matrix	TAS Traceable Author Statement more info
located_in mitochondrion	HTP more info	PubMed
located_in mitochondrion	IDA Inferred from Direct Assay more info

General protein information

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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

EC 1.2.1.88

NP_001306147.1

EC 1.2.1.88

NP_003739.2

EC 1.2.1.88

NP_733844.1

EC 1.2.1.88

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

NG_012283.1 RefSeqGene

Range

5245..36370

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001161504.2 → NP_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, ENST00000538309.5

Conserved Domains (1) summary

cd07123
Location:2 → 493

ALDH_F4-17_P5CDH; Delta(1)-pyrroline-5-carboxylate dehydrogenase, ALDH families 4 and 17
NM_001319218.2 → NP_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:32 → 502

ALDH_F4-17_P5CDH; Delta(1)-pyrroline-5-carboxylate dehydrogenase, ALDH families 4 and 17
NM_003748.4 → NP_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

A8K1Q7, B4DGE4, D2D4A3, P30038, Q16882, Q53HU4, Q5JNV6, Q8IZ38, Q96IF0, Q9UDI6

UniProtKB/TrEMBL

A0A024RAC7, A0A024RAD8

Related

ENSP00000364490.3, ENST00000375341.8

Conserved Domains (1) summary

cd07123
Location:32 → 553

ALDH_F4-17_P5CDH; Delta(1)-pyrroline-5-carboxylate dehydrogenase, ALDH families 4 and 17
NM_170726.3 → NP_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

A8K1Q7, B4DGE4, D2D4A3, P30038, Q16882, Q53HU4, Q5JNV6, Q8IZ38, Q96IF0, Q9UDI6

UniProtKB/TrEMBL

A0A024RAC7, A0A024RAD8

Related

ENSP00000290597.5, ENST00000290597.9

Conserved Domains (1) summary

cd07123
Location:32 → 553

ALDH_F4-17_P5CDH; Delta(1)-pyrroline-5-carboxylate dehydrogenase, ALDH families 4 and 17