Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	5832
Gene name Gene Name - the full gene name approved by the HGNC.	Aldehyde dehydrogenase 18 family member A1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	ALDH18A1
Synonyms (NCBI Gene) Gene synonyms aliases	ADCL3, ARCL3A, GSAS, P5CS, PYCS, SPG9, SPG9A, SPG9B
Chromosome Chromosome number	10
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	10q24.1
Summary Summary of gene provided in NCBI Entrez Gene.	This gene is a member of the aldehyde dehydrogenase family and encodes a bifunctional ATP- and NADPH-dependent mitochondrial enzyme with both gamma-glutamyl kinase and gamma-glutamyl phosphate reductase activities. The encoded protein catalyzes the reduct

Show/Hide all(29)

SNP ID	Visualize variation	Clinical significance	Consequence
rs121434582	C>A,T	Pathogenic, uncertain-significance	Intron variant, missense variant, coding sequence variant
rs121434583	G>A	Pathogenic	Missense variant, coding sequence variant
rs150526956	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs374052426	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs537043237	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs556267618	C>T	Likely-pathogenic	Splice donor variant
rs587777858	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs748925635	C>T	Pathogenic	Coding sequence variant, missense variant
rs752669339	C>G	Pathogenic	Coding sequence variant, missense variant
rs758543218	G>A	Pathogenic	Coding sequence variant, stop gained
rs762271422	G>A,C	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs762742204	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs766264810	C>A,T	Pathogenic	Coding sequence variant, missense variant
rs768323248	C>T	Uncertain-significance, pathogenic	Coding sequence variant, intron variant, missense variant
rs774047299	T>C,G	Uncertain-significance, likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs786205614	T>C	Likely-pathogenic	Coding sequence variant, intron variant, 5 prime UTR variant, missense variant
rs863223315	C>T	Pathogenic	Splice donor variant
rs863224945	A>G	Pathogenic	Coding sequence variant, intron variant, missense variant
rs863225044	G>A	Pathogenic	Coding sequence variant, intron variant, missense variant
rs863225045	C>A,T	Pathogenic	Coding sequence variant, intron variant, missense variant
rs864321669	C>G	Pathogenic	Coding sequence variant, missense variant
rs864321670	C>T	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs869320690	A>G	Pathogenic	Coding sequence variant, missense variant
rs1057518541	C>T	Likely-pathogenic	Intron variant, coding sequence variant, missense variant
rs1194593234	C>A,T	Pathogenic	Coding sequence variant, missense variant
rs1462559161	G>A	Conflicting-interpretations-of-pathogenicity	Stop gained, coding sequence variant
rs1555262375	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555264243	C>-	Likely-pathogenic	Intron variant, coding sequence variant, frameshift variant
rs1566039159	G>A	Likely-pathogenic	Stop gained, intron variant, coding sequence variant

Show/Hide all(168)

miRTarBase ID	miRNA	Experiments	Reference
MIRT022930	hsa-miR-124-3p	Proteomics;Microarray	18668037
MIRT031825	hsa-miR-16-5p	Proteomics	18668040
MIRT050486	hsa-miR-20a-5p	CLASH	23622248
MIRT037662	hsa-miR-744-5p	CLASH	23622248
MIRT625875	hsa-miR-4282	HITS-CLIP	23824327
MIRT625874	hsa-miR-4762-5p	HITS-CLIP	23824327
MIRT625873	hsa-miR-3124-3p	HITS-CLIP	23824327
MIRT625872	hsa-miR-4799-5p	HITS-CLIP	23824327
MIRT625871	hsa-miR-4263	HITS-CLIP	23824327
MIRT625870	hsa-miR-576-5p	HITS-CLIP	23824327
MIRT625875	hsa-miR-4282	HITS-CLIP	23824327
MIRT625874	hsa-miR-4762-5p	HITS-CLIP	23824327
MIRT625873	hsa-miR-3124-3p	HITS-CLIP	23824327
MIRT625872	hsa-miR-4799-5p	HITS-CLIP	23824327
MIRT645821	hsa-miR-4709-3p	HITS-CLIP	23824327
MIRT625871	hsa-miR-4263	HITS-CLIP	23824327
MIRT625870	hsa-miR-576-5p	HITS-CLIP	23824327
MIRT625875	hsa-miR-4282	HITS-CLIP	23824327
MIRT625874	hsa-miR-4762-5p	HITS-CLIP	23824327
MIRT625873	hsa-miR-3124-3p	HITS-CLIP	23824327
MIRT625872	hsa-miR-4799-5p	HITS-CLIP	23824327
MIRT625871	hsa-miR-4263	HITS-CLIP	23824327
MIRT625870	hsa-miR-576-5p	HITS-CLIP	23824327
MIRT625875	hsa-miR-4282	HITS-CLIP	23824327
MIRT625874	hsa-miR-4762-5p	HITS-CLIP	23824327
MIRT625873	hsa-miR-3124-3p	HITS-CLIP	23824327
MIRT625872	hsa-miR-4799-5p	HITS-CLIP	23824327
MIRT625875	hsa-miR-4282	HITS-CLIP	23824327
MIRT625874	hsa-miR-4762-5p	HITS-CLIP	23824327
MIRT625873	hsa-miR-3124-3p	HITS-CLIP	23824327
MIRT625872	hsa-miR-4799-5p	HITS-CLIP	23824327
MIRT625871	hsa-miR-4263	HITS-CLIP	23824327
MIRT625870	hsa-miR-576-5p	HITS-CLIP	23824327
MIRT625875	hsa-miR-4282	HITS-CLIP	23824327
MIRT625874	hsa-miR-4762-5p	HITS-CLIP	23824327
MIRT625873	hsa-miR-3124-3p	HITS-CLIP	23824327
MIRT625872	hsa-miR-4799-5p	HITS-CLIP	23824327
MIRT625871	hsa-miR-4263	HITS-CLIP	23824327
MIRT625870	hsa-miR-576-5p	HITS-CLIP	23824327
MIRT625875	hsa-miR-4282	HITS-CLIP	23824327
MIRT625874	hsa-miR-4762-5p	HITS-CLIP	23824327
MIRT625873	hsa-miR-3124-3p	HITS-CLIP	23824327
MIRT625872	hsa-miR-4799-5p	HITS-CLIP	23824327
MIRT645821	hsa-miR-4709-3p	HITS-CLIP	23824327
MIRT625871	hsa-miR-4263	HITS-CLIP	23824327
MIRT625870	hsa-miR-576-5p	HITS-CLIP	23824327
MIRT625875	hsa-miR-4282	HITS-CLIP	23824327
MIRT625874	hsa-miR-4762-5p	HITS-CLIP	23824327
MIRT625873	hsa-miR-3124-3p	HITS-CLIP	23824327
MIRT625872	hsa-miR-4799-5p	HITS-CLIP	23824327
MIRT625871	hsa-miR-4263	HITS-CLIP	23824327
MIRT625870	hsa-miR-576-5p	HITS-CLIP	23824327
MIRT625875	hsa-miR-4282	HITS-CLIP	23824327
MIRT625874	hsa-miR-4762-5p	HITS-CLIP	23824327
MIRT625873	hsa-miR-3124-3p	HITS-CLIP	23824327
MIRT625872	hsa-miR-4799-5p	HITS-CLIP	23824327
MIRT625875	hsa-miR-4282	HITS-CLIP	23824327
MIRT625874	hsa-miR-4762-5p	HITS-CLIP	23824327
MIRT625873	hsa-miR-3124-3p	HITS-CLIP	23824327
MIRT625872	hsa-miR-4799-5p	HITS-CLIP	23824327
MIRT625871	hsa-miR-4263	HITS-CLIP	23824327
MIRT625870	hsa-miR-576-5p	HITS-CLIP	23824327
MIRT776918	hsa-miR-1200	CLIP-seq
MIRT776919	hsa-miR-1238	CLIP-seq
MIRT776920	hsa-miR-1269	CLIP-seq
MIRT776921	hsa-miR-1269b	CLIP-seq
MIRT776922	hsa-miR-182	CLIP-seq
MIRT776923	hsa-miR-1976	CLIP-seq
MIRT776924	hsa-miR-2114	CLIP-seq
MIRT776925	hsa-miR-3162-3p	CLIP-seq
MIRT776926	hsa-miR-3192	CLIP-seq
MIRT776927	hsa-miR-330-3p	CLIP-seq
MIRT776928	hsa-miR-335	CLIP-seq
MIRT776929	hsa-miR-3617	CLIP-seq
MIRT776930	hsa-miR-4324	CLIP-seq
MIRT776931	hsa-miR-4470	CLIP-seq
MIRT776932	hsa-miR-4529-3p	CLIP-seq
MIRT776933	hsa-miR-544b	CLIP-seq
MIRT776934	hsa-miR-629	CLIP-seq
MIRT776935	hsa-miR-641	CLIP-seq
MIRT776936	hsa-miR-642b	CLIP-seq
MIRT776937	hsa-miR-873	CLIP-seq
MIRT776920	hsa-miR-1269	CLIP-seq
MIRT776921	hsa-miR-1269b	CLIP-seq
MIRT776922	hsa-miR-182	CLIP-seq
MIRT776924	hsa-miR-2114	CLIP-seq
MIRT1929430	hsa-miR-4300	CLIP-seq
MIRT776931	hsa-miR-4470	CLIP-seq
MIRT1929431	hsa-miR-4494	CLIP-seq
MIRT776932	hsa-miR-4529-3p	CLIP-seq
MIRT1929432	hsa-miR-550b	CLIP-seq
MIRT1929433	hsa-miR-920	CLIP-seq
MIRT2170089	hsa-miR-3935	CLIP-seq
MIRT2170090	hsa-miR-4267	CLIP-seq
MIRT2170091	hsa-miR-4691-5p	CLIP-seq
MIRT2170092	hsa-miR-491-5p	CLIP-seq
MIRT2170093	hsa-miR-766	CLIP-seq
MIRT776923	hsa-miR-1976	CLIP-seq
MIRT2472871	hsa-miR-1	CLIP-seq
MIRT2472872	hsa-miR-1184	CLIP-seq
MIRT2472873	hsa-miR-1286	CLIP-seq
MIRT2472874	hsa-miR-1299	CLIP-seq
MIRT2472875	hsa-miR-1301	CLIP-seq
MIRT776923	hsa-miR-1976	CLIP-seq
MIRT2472876	hsa-miR-206	CLIP-seq
MIRT2472877	hsa-miR-2276	CLIP-seq
MIRT2472878	hsa-miR-3199	CLIP-seq
MIRT2472879	hsa-miR-325	CLIP-seq
MIRT2472880	hsa-miR-3673	CLIP-seq
MIRT2472881	hsa-miR-3690	CLIP-seq
MIRT2472882	hsa-miR-370	CLIP-seq
MIRT2472883	hsa-miR-3940-5p	CLIP-seq
MIRT2472884	hsa-miR-3974	CLIP-seq
MIRT2472885	hsa-miR-4254	CLIP-seq
MIRT2170090	hsa-miR-4267	CLIP-seq
MIRT2472886	hsa-miR-4453	CLIP-seq
MIRT2472887	hsa-miR-4477a	CLIP-seq
MIRT2472888	hsa-miR-4480	CLIP-seq
MIRT2472889	hsa-miR-4507	CLIP-seq
MIRT2472890	hsa-miR-4538	CLIP-seq
MIRT2472891	hsa-miR-4652-5p	CLIP-seq
MIRT2472892	hsa-miR-4660	CLIP-seq
MIRT2472893	hsa-miR-4711-5p	CLIP-seq
MIRT2472894	hsa-miR-4716-3p	CLIP-seq
MIRT2472895	hsa-miR-4719	CLIP-seq
MIRT2472896	hsa-miR-4722-5p	CLIP-seq
MIRT2472897	hsa-miR-4738-3p	CLIP-seq
MIRT2472898	hsa-miR-4775	CLIP-seq
MIRT2472899	hsa-miR-5047	CLIP-seq
MIRT2472900	hsa-miR-613	CLIP-seq
MIRT2472901	hsa-miR-628-3p	CLIP-seq
MIRT2472902	hsa-miR-760	CLIP-seq
MIRT2472903	hsa-miR-875-3p	CLIP-seq
MIRT2472871	hsa-miR-1	CLIP-seq
MIRT2472872	hsa-miR-1184	CLIP-seq
MIRT2472873	hsa-miR-1286	CLIP-seq
MIRT2472874	hsa-miR-1299	CLIP-seq
MIRT2472875	hsa-miR-1301	CLIP-seq
MIRT776923	hsa-miR-1976	CLIP-seq
MIRT2472876	hsa-miR-206	CLIP-seq
MIRT2674895	hsa-miR-224	CLIP-seq
MIRT2472877	hsa-miR-2276	CLIP-seq
MIRT2472878	hsa-miR-3199	CLIP-seq
MIRT2472879	hsa-miR-325	CLIP-seq
MIRT2472880	hsa-miR-3673	CLIP-seq
MIRT2472881	hsa-miR-3690	CLIP-seq
MIRT2472882	hsa-miR-370	CLIP-seq
MIRT2472883	hsa-miR-3940-5p	CLIP-seq
MIRT2472885	hsa-miR-4254	CLIP-seq
MIRT2170090	hsa-miR-4267	CLIP-seq
MIRT2472886	hsa-miR-4453	CLIP-seq
MIRT2472887	hsa-miR-4477a	CLIP-seq
MIRT2472888	hsa-miR-4480	CLIP-seq
MIRT2472889	hsa-miR-4507	CLIP-seq
MIRT2472890	hsa-miR-4538	CLIP-seq
MIRT2472891	hsa-miR-4652-5p	CLIP-seq
MIRT2472892	hsa-miR-4660	CLIP-seq
MIRT2472893	hsa-miR-4711-5p	CLIP-seq
MIRT2472894	hsa-miR-4716-3p	CLIP-seq
MIRT2472895	hsa-miR-4719	CLIP-seq
MIRT2472896	hsa-miR-4722-5p	CLIP-seq
MIRT2472897	hsa-miR-4738-3p	CLIP-seq
MIRT2472898	hsa-miR-4775	CLIP-seq
MIRT2472899	hsa-miR-5047	CLIP-seq
MIRT2472900	hsa-miR-613	CLIP-seq
MIRT2472901	hsa-miR-628-3p	CLIP-seq
MIRT2472902	hsa-miR-760	CLIP-seq
MIRT2472903	hsa-miR-875-3p	CLIP-seq

Show/Hide all(34)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0003723	Function	RNA binding	HDA	22658674
GO:0003824	Function	Catalytic activity	IEA
GO:0004349	Function	Glutamate 5-kinase activity	IDA	11092761
GO:0004349	Function	Glutamate 5-kinase activity	IEA
GO:0004349	Function	Glutamate 5-kinase activity	IMP	26297558
GO:0004350	Function	Glutamate-5-semialdehyde dehydrogenase activity	IBA
GO:0004350	Function	Glutamate-5-semialdehyde dehydrogenase activity	IDA	11092761
GO:0004350	Function	Glutamate-5-semialdehyde dehydrogenase activity	IEA
GO:0004350	Function	Glutamate-5-semialdehyde dehydrogenase activity	IMP	26297558
GO:0005515	Function	Protein binding	IPI	25416956, 32296183
GO:0005524	Function	ATP binding	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IDA	26297558, 26320891
GO:0005739	Component	Mitochondrion	IEA
GO:0005743	Component	Mitochondrial inner membrane	TAS
GO:0005759	Component	Mitochondrial matrix	IDA	32770108
GO:0005759	Component	Mitochondrial matrix	IEA
GO:0006536	Process	Glutamate metabolic process	IMP	11092761
GO:0006592	Process	Ornithine biosynthetic process	IMP	11092761, 26297558
GO:0008652	Process	Amino acid biosynthetic process	IEA
GO:0009266	Process	Response to temperature stimulus	IEA
GO:0016301	Function	Kinase activity	IEA
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0016620	Function	Oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0019240	Process	Citrulline biosynthetic process	IMP	11092761, 26297558
GO:0031966	Component	Mitochondrial membrane	IEA
GO:0042802	Function	Identical protein binding	IDA	26297558
GO:0055129	Process	L-proline biosynthetic process	IEA
GO:0055129	Process	L-proline biosynthetic process	IMP	11092761, 26297558
GO:0055129	Process	L-proline biosynthetic process	TAS	8761662

MIM	HGNC	e!Ensembl
138250	9722	ENSG00000059573

Protein

UniProt ID

P54886

Protein name

Delta-1-pyrroline-5-carboxylate synthase (P5CS) (Aldehyde dehydrogenase family 18 member A1) [Includes: Glutamate 5-kinase (GK) (EC 2.7.2.11) (Gamma-glutamyl kinase); Gamma-glutamyl phosphate reductase (GPR) (EC 1.2.1.41) (Glutamate-5-semialdehyde dehydro

Protein function

Bifunctional enzyme that converts glutamate to glutamate 5-semialdehyde, an intermediate in the biosynthesis of proline, ornithine and arginine. {ECO:0000269|PubMed:10037775, ECO:0000269|PubMed:11092761, ECO:0000269|PubMed:26297558, ECO:0000269|

PDB

2H5G

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00696	AA_kinase	71 → 329	Amino acid kinase family	Family
PF00171	Aldedh	350 → 662	Aldehyde dehydrogenase family	Family

Sequence

MLSQVYRCGFQPFNQHLLPWVKCTTVFRSHCIQPSVIRHVRSWSNIPFITVPLSRTHGKS
FAHRSELKHAKRIVVKLGSAVVTRGDECGLALGRLASIVEQVSVLQNQGREMMLVTSGAV
AFGKQRLRHEILLSQSVRQALHSGQNQLKEMAIPVLEARACAAAGQSGLMALYEAMFTQY
SICAAQILVTNLDFHDEQKRRNLNGTLHELLRMNIVPIVNTNDAVVPPAEPNSDLQGVNV
ISVKDNDSLAARLAVEMKTDLLIVLSDVEGLFDSPPGSDDAKLIDIFYPGDQQSVTFGTK
SRVGMGGMEAKVKAALWALQGGTSVVIANGTHPKVSGHVITDIVEGKKVGTFFSEVKPAG
PTVEQQGEMARSGGRMLATLEPEQRAEIIHHLADLLTDQRDEILLANKKDLEEAEGRLAA
PLLKRLSLSTSKLNSLAIGLRQIAASSQDSVGRVLRRTRIAKNLELEQVTVPIGVLLVIF
ESRPDCLPQVAALAIASGNGLLLKGGKEAAHSNRILHLLTQEALSIHGVKEAVQLVNTRE
EVEDLCRLDKMIDLIIPRGSSQLVRDIQKAAKGIPVMGHSEGICHMYVDSEASVDKVTRL
VRDSKCEYPAACNALETLLIHRDLLRTPLFDQIIDMLRVEQVKIHAGPKFASYLTFSPSE
VKSLRTEYGDLELCIEVVDNVQDAIDHIHKYGSSHTDVIVTEDENTAEFFLQHVDSACVF
WNASTRFSDGYRFGLGAEVGISTSRIHARGPVGLEGLLTTKWLLRGKDHVVSDFSEHGSL
KYLHENLPIPQRNTN

Sequence length

795

Interactions

View interactions

	KEGG		Reactome
	Arginine and proline metabolism Metabolic pathways Biosynthesis of amino acids		Glutamate and glutamine metabolism

Show/Hide Causal Diseases (4)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Cutis laxa	cutis laxa, autosomal dominant 3	rs863225044, rs863225045, rs752669339	N/A
De Barsy Syndrome	aldh18a1-related de barsy syndrome	rs1194593234, rs556267618, rs748925635, rs121434583, rs863223315, rs587777858, rs863225045, rs1555262375, rs1555264243	N/A
Hereditary spastic paraplegia	Hereditary spastic paraplegia 9A	rs864321669, rs864321670, rs863224945, rs766264810, rs863225045	N/A
Spastic Paraplegia	Autosomal recessive complex spastic paraplegia type 9B	rs869320690, rs752669339	N/A

Show/Hide Unknown Diseases (1)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Spondyloepiphyseal dysplasia	spondyloepiphyseal dysplasia, stanescu type	N/A	N/A	ClinVar

ALDH18A1 (aldehyde dehydrogenase 18 family member A1)