InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Gene: ALDH4A1

Summary

InnateDB Gene

IDBG-92044.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

ALDH4A1

Gene Name

aldehyde dehydrogenase 4 family, member A1

Synonyms

ALDH4; P5CD; P5CDh

Species

Homo sapiens

Ensembl Gene

ENSG00000159423

Encoded Proteins

IDBP-92046

aldehyde dehydrogenase 4 family, member A1

IDBP-92050

aldehyde dehydrogenase 4 family, member A1

IDBP-372704

aldehyde dehydrogenase 4 family, member A1

IDBP-590579

aldehyde dehydrogenase 4 family, member A1

IDBP-596679

aldehyde dehydrogenase 4 family, member A1

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

Entrez Gene

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]

Gene Information

Type

Protein coding

Genomic Location

Chromosome 1:18871430-18902781

Strand

Reverse strand

Band

p36.13

Transcripts

ENST00000375341	ENSP00000364490
ENST00000290597	ENSP00000290597
ENST00000454547
ENST00000432718	ENSP00000393209
ENST00000538839	ENSP00000446071
ENST00000538309	ENSP00000442988

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 6 experimentally validated interaction(s) in this database.

Experimentally validated
Total	6 [view]
Protein-Protein	6 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003842	1-pyrroline-5-carboxylate dehydrogenase activity
GO:0004029	aldehyde dehydrogenase (NAD) activity
GO:0009055	electron carrier activity
GO:0016491	oxidoreductase activity
GO:0042802	identical protein binding

Biological Process

GO:0006537	glutamate biosynthetic process
GO:0006560	proline metabolic process
GO:0006561	proline biosynthetic process
GO:0006562	proline catabolic process
GO:0008152	metabolic process
GO:0010133	proline catabolic process to glutamate
GO:0019470	4-hydroxyproline catabolic process
GO:0034641	cellular nitrogen compound metabolic process
GO:0044281	small molecule metabolic process
GO:0055114	oxidation-reduction process

Cellular Component

GO:0005739	mitochondrion
GO:0005759	mitochondrial matrix

Orthologs

Species

Mus musculus

Bos taurus

Gene ID

Gene Order

ENSMUSG00000028737

View Gene Order

ENSBTAG00000030335

Not yet available

Pathways

NETPATH

REACTOME

REACT_1002

Proline catabolism pathway

REACT_13

Metabolism of amino acids and derivatives pathway

REACT_111217

Metabolism pathway

KEGG

hsa00330

Arginine and proline metabolism pathway

hsa00250

Alanine, aspartate and glutamate metabolism pathway

INOH

INOH website

Arginine Proline metabolism pathway

PID NCI

Cross-References

SwissProt

TrEMBL

UniProt Splice Variant

Entrez Gene

UniGene

Hs.618201 Hs.77448

RefSeq

NM_001161504 NM_003748 NM_170726

HUGO

OMIM

CCDS

CCDS188 CCDS53272

HPRD

06009

IMGT

EMBL

GenPept

RNA Seq Atlas