Aldh18a1 aldehyde dehydrogenase 18 family, member A1 [Rattus norvegicus (Norway rat)] - Gene

Summary

Symbol: Aldh18a1provided by RGD
Full Name: aldehyde dehydrogenase 18 family, member A1provided by RGD
Primary source: RGD:1311431
See related: Ensembl:ENSRNOG00000067262 AllianceGenome:RGD:1311431
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Rattus norvegicus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
Also known as: Pycs
Summary: Predicted to enable glutamate 5-kinase activity; glutamate-5-semialdehyde dehydrogenase activity; and identical protein binding activity. Involved in response to temperature stimulus. Located in mitochondrial membrane. Human ortholog(s) of this gene implicated in cataract; cutis laxa (multiple); enterocele; and hereditary spastic paraplegia (multiple). Orthologous to human ALDH18A1 (aldehyde dehydrogenase 18 family member A1). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in Thymus (RPKM 102.6), Spleen (RPKM 79.7) and 9 other tissues See more
Orthologs: human mouse all
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Genomic context

Location:: 1q54

Exon count:: 18

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCr8 (GCF_036323735.1)	1	NC_086019.1 (249325082..249357383, complement)
RS_2023_06	previous assembly	mRatBN7.2 (GCF_015227675.2)	1	NC_051336.1 (239375657..239407956, complement)
106	previous assembly	Rnor_6.0 (GCF_000001895.5)	1	NC_005100.4 (259641673..259674521, complement)

Chromosome 1 - NC_086019.1 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: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
BioProject: PRJNA238328
Publication: PMID 24510058
Analysis date: Mon Jun 6 17:44:12 2016

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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General gene information

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Gene Ontology Provided by RGD

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables glutamate 5-kinase activity	ISO Inferred from Sequence Orthology more info
enables glutamate-5-semialdehyde dehydrogenase activity	IBA Inferred from Biological aspect of Ancestor more info
enables glutamate-5-semialdehyde dehydrogenase activity	ISO Inferred from Sequence Orthology more info
enables identical protein binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in L-proline biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in citrulline biosynthetic process	ISO Inferred from Sequence Orthology more info
involved_in glutamate metabolic process	ISO Inferred from Sequence Orthology more info
involved_in ornithine biosynthetic process	ISO Inferred from Sequence Orthology more info
involved_in proline biosynthetic process	ISO Inferred from Sequence Orthology more info
involved_in response to temperature stimulus	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in mitochondrial membrane	IDA Inferred from Direct Assay more info	PubMed
is_active_in mitochondrion	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrion	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: delta-1-pyrroline-5-carboxylate synthase

Names: pyrroline-5-carboxylate synthetase (glutamate gamma-semialdehyde synthetase)

NP_001101994.1

EC 1.2.1.41

EC 2.7.2.11

NP_001382604.1

EC 1.2.1.41

EC 2.7.2.11

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.

mRNA and Protein(s)

NM_001108524.2 → NP_001101994.1 delta-1-pyrroline-5-carboxylate synthase isoform 1

See identical proteins and their annotated locations for NP_001101994.1

Status: VALIDATED

Source sequence(s)

JAXUCZ010000001

UniProtKB/TrEMBL

A0A8I6AAN3, A6JH60

Related

ENSRNOP00000089847.1, ENSRNOT00000120003.1

Conserved Domains (3) summary

TIGR01092
Location:64 → 792

P5CS; delta l-pyrroline-5-carboxylate synthetase

cd07079
Location:364 → 767

ALDH_F18-19_ProA-GPR; Gamma-glutamyl phosphate reductase (GPR), aldehyde dehydrogenase families 18 and 19

cd04256
Location:63 → 354

AAK_P5CS_ProBA; AAK_P5CS_ProBA: Glutamate-5-kinase (G5K) domain of the bifunctional delta 1-pyrroline-5-carboxylate synthetase (P5CS), composed of an N-terminal G5K (ProB) and a C-terminal glutamyl 5- phosphate reductase (G5PR, ProA), the first and second enzyme ...
NM_001395675.1 → NP_001382604.1 delta-1-pyrroline-5-carboxylate synthase isoform 2

Status: VALIDATED

Source sequence(s)

JAXUCZ010000001

UniProtKB/TrEMBL

A0A8I6AAN3

Conserved Domains (1) summary

TIGR01092
Location:64 → 790

P5CS; delta l-pyrroline-5-carboxylate synthetase