Gene Page: ALDH4A1

Summary ?
GeneID8659
SymbolALDH4A1
SynonymsALDH4|P5CD|P5CDh
Descriptionaldehyde dehydrogenase 4 family member A1
ReferenceMIM:606811|HGNC:HGNC:406|Ensembl:ENSG00000159423|HPRD:06009|Vega:OTTHUMG00000002443
Gene typeprotein-coding
Map location1p36
Pascal p-value0.361
Sherlock p-value0.565
Fetal beta-1.814
eGeneMyers' cis & trans
Meta

Gene in Data Sources
Gene set name Method of gene setDescriptionInfo
CV:PGCnpGenome-wide Association StudyGWAS
DNM:Gulsuner_2013Whole Exome Sequencing analysis155 DNMs identified by exome sequencing of quads or trios of schizophrenia individuals and their parents.
GO_AnnotationMapping neuro-related keywords to Gene Ontology annotationsHits with neuro-related keywords: 1 

Section I. Genetics and epigenetics annotation

@DNM table

GeneChromosomePositionRefAltTranscriptAA changeMutation typeSiftCG46TraitStudy
ALDH4A1chr119209877TCNM_001161504
NM_003748
NM_170726		p.107I>V
p.167I>V
p.167I>V		missense
missense
missense		SchizophreniaDNM:Gulsuner_2013

@eQTL annotation

SNP IDChromosomePositioneGeneGene Entrez IDpvalueqvalueTSS distanceeQTL type
rs6879593chr575253310ALDH4A186590.06trans
rs1859123chr786733664ALDH4A186590.09trans
rs6007842chr2248784256ALDH4A186590.15trans
rs10126993chrX35885796ALDH4A186590.1trans
rs4501739chrX35960848ALDH4A186590.04trans

Section II. Transcriptome annotation

General gene expression (GTEx)

Not available

Gene expression during devlopment (BrainCloud)

Footnote:
A total of 269 time points ploted, with n=38 fetal samples (x=1:38). Each triangle represents one time point.

Gene expression of temporal and spatial changes (BrainSpan)

Footnote:
SC: sub-cortical regions; SM: sensory-motor regions; FC: frontal cortex; and TP: temporal-parietal cortex
ST1: fetal (13 - 26 postconception weeks), ST2: early infancy to late childhood (4 months to 11 years), and ST3: adolescence to adulthood (13 - 23 years)
The bar shown representes the lower 25% and upper 25% of the expression distribution.

No co-expressed genes in brain regions


Section III. Gene Ontology annotation

Molecular functionGO termEvidenceNeuro keywordsPubMed ID
GO:00038421-pyrroline-5-carboxylate dehydrogenase activityTASglutamate (GO term level: 6)8621661 
GO:0004029aldehyde dehydrogenase (NAD) activityTAS8621661 
GO:0009055electron carrier activityTAS8621661 
GO:0016491oxidoreductase activityIEA-
Biological processGO termEvidenceNeuro keywordsPubMed ID
GO:0008152metabolic processIEA-
GO:0006561proline biosynthetic processIEA-
GO:0006562proline catabolic processTAS8621661 
GO:0055114oxidation reductionIEA-
Cellular componentGO termEvidenceNeuro keywordsPubMed ID
GO:0005739mitochondrionIEA-
GO:0005759mitochondrial matrixTAS8621661 

Section V. Pathway annotation

Pathway namePathway size# SZGR 2.0 genes in pathwayInfo
KEGG ALANINE ASPARTATE AND GLUTAMATE METABOLISM 3226All SZGR 2.0 genes in this pathway
KEGG ARGININE AND PROLINE METABOLISM 5439All SZGR 2.0 genes in this pathway
REACTOME METABOLISM OF AMINO ACIDS AND DERIVATIVES 200136All SZGR 2.0 genes in this pathway
PARENT MTOR SIGNALING UP 567375All SZGR 2.0 genes in this pathway
HOLLMANN APOPTOSIS VIA CD40 UP 201125All SZGR 2.0 genes in this pathway
THUM SYSTOLIC HEART FAILURE UP 423283All SZGR 2.0 genes in this pathway
DIAZ CHRONIC MEYLOGENOUS LEUKEMIA UP 1382904All SZGR 2.0 genes in this pathway
CHARAFE BREAST CANCER LUMINAL VS MESENCHYMAL UP 450256All SZGR 2.0 genes in this pathway
DOANE BREAST CANCER CLASSES UP 7238All SZGR 2.0 genes in this pathway
DOANE RESPONSE TO ANDROGEN UP 184125All SZGR 2.0 genes in this pathway
GAL LEUKEMIC STEM CELL DN 244153All SZGR 2.0 genes in this pathway
SABATES COLORECTAL ADENOMA UP 14175All SZGR 2.0 genes in this pathway
ELVIDGE HYPOXIA DN 14694All SZGR 2.0 genes in this pathway
ELVIDGE HYPOXIA BY DMOG DN 5940All SZGR 2.0 genes in this pathway
DELYS THYROID CANCER DN 232154All SZGR 2.0 genes in this pathway
GRAESSMANN APOPTOSIS BY DOXORUBICIN UP 1142669All SZGR 2.0 genes in this pathway
GRAESSMANN RESPONSE TO MC AND DOXORUBICIN UP 612367All SZGR 2.0 genes in this pathway
WANG ESOPHAGUS CANCER VS NORMAL DN 10166All SZGR 2.0 genes in this pathway
PEREZ TP53 TARGETS 1174695All SZGR 2.0 genes in this pathway
MARTORIATI MDM4 TARGETS NEUROEPITHELIUM UP 176111All SZGR 2.0 genes in this pathway
WANG PROSTATE CANCER ANDROGEN INDEPENDENT 6637All SZGR 2.0 genes in this pathway
FRASOR RESPONSE TO ESTRADIOL DN 8252All SZGR 2.0 genes in this pathway
VANTVEER BREAST CANCER METASTASIS UP 5631All SZGR 2.0 genes in this pathway
FLECHNER BIOPSY KIDNEY TRANSPLANT REJECTED VS OK DN 546351All SZGR 2.0 genes in this pathway
PENG RAPAMYCIN RESPONSE DN 245154All SZGR 2.0 genes in this pathway
LI WILMS TUMOR VS FETAL KIDNEY 1 UP 182119All SZGR 2.0 genes in this pathway
ALCALAY AML BY NPM1 LOCALIZATION DN 184132All SZGR 2.0 genes in this pathway
CROMER METASTASIS DN 8158All SZGR 2.0 genes in this pathway
BAELDE DIABETIC NEPHROPATHY UP 8648All SZGR 2.0 genes in this pathway
LU AGING BRAIN UP 262186All SZGR 2.0 genes in this pathway
HELLER HDAC TARGETS UP 317208All SZGR 2.0 genes in this pathway
HELLER HDAC TARGETS SILENCED BY METHYLATION UP 461298All SZGR 2.0 genes in this pathway
SMID BREAST CANCER ERBB2 UP 14783All SZGR 2.0 genes in this pathway
SMID BREAST CANCER BASAL DN 701446All SZGR 2.0 genes in this pathway
MOOTHA HUMAN MITODB 6 2002 429260All SZGR 2.0 genes in this pathway
LEE LIVER CANCER SURVIVAL UP 185112All SZGR 2.0 genes in this pathway
MOOTHA MITOCHONDRIA 447277All SZGR 2.0 genes in this pathway
POOLA INVASIVE BREAST CANCER DN 13483All SZGR 2.0 genes in this pathway
HOSHIDA LIVER CANCER SUBCLASS S3 266180All SZGR 2.0 genes in this pathway
VANTVEER BREAST CANCER POOR PROGNOSIS 5530All SZGR 2.0 genes in this pathway