Aldh18a1 MGI Mouse Gene Detail - MGI:1888908 - aldehyde dehydrogenase 18 family, member A1

Symbol

Aldh18a1
Name

aldehyde dehydrogenase 18 family, member A1
Synonyms

2810433K04Rik, Pycs

Feature Type

protein coding gene
IDs

MGI:1888908
NCBI Gene: 56454
Alliance

gene page
Transcription Start Sites

9 TSS

Sequence Map

Chr19:40538701-40576907 bp, - strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 19, 34.25 cM
Mapping Data

2 experiments

SNPs within 2kb

1385 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1888908	protein coding gene	Chr19:40538701-40576907 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0025112	protein coding gene	Chr19:39762425-39804576 (-)
A/J	MGP_AJ_G0025089	protein coding gene	Chr19:37824799-37863051 (-)
AKR/J	MGP_AKRJ_G0025057	protein coding gene	Chr19:39117283-39155676 (-)
BALB/cJ	MGP_BALBcJ_G0025083	protein coding gene	Chr19:37915388-37954288 (-)
C3H/HeJ	MGP_C3HHeJ_G0024843	protein coding gene	Chr19:39260240-39298466 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0025527	protein coding gene	Chr19:40839998-40884194 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0022940	protein coding gene	Chr19:37238059-37273772 (-)
CAST/EiJ	MGP_CASTEiJ_G0024308	protein coding gene	Chr19:38891364-38927472 (-)
CBA/J	MGP_CBAJ_G0024823	protein coding gene	Chr19:42835238-42876787 (-)
DBA/2J	MGP_DBA2J_G0024955	protein coding gene	Chr19:37729069-37768799 (-)
FVB/NJ	MGP_FVBNJ_G0024916	protein coding gene	Chr19:37481847-37520086 (-)
LP/J	MGP_LPJ_G0025041	protein coding gene	Chr19:39802451-39842387 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0024947	protein coding gene	Chr19:42531795-42572686 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0025584	protein coding gene	Chr19:39137154-39186328 (-)
PWK/PhJ	MGP_PWKPhJ_G0024058	protein coding gene	Chr19:37571934-37612869 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0023861	protein coding gene	Chr19:37878418-37914896 (-)
WSB/EiJ	MGP_WSBEiJ_G0024378	protein coding gene	Chr19:39308852-39348709 (-)

Human Ortholog

ALDH18A1, aldehyde dehydrogenase 18 family member A1

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

ALDH18A1, aldehyde dehydrogenase 18 family member A1
Synonyms

ADCL3, ARCL3A, GSAS, P5CS, PYCS, SPG9, SPG9A, SPG9B
Links

HGNC:9722

NCBI Gene ID: 5832

neXtProt AC: NX_P54886

UniProt: P54886
Chr Location

10q24.1; chr10:95605941-95656711 (-) GRCh38

MGI Vertebrate Homology

Aldh18a1 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: ALDH18A1
Protein SuperFamily

P5C_syn
Gene Tree

Aldh18a1

Diseases

8 with human ALDH18A1 associations

				Human Disease	Mouse Models
				autosomal dominant cutis laxa 3 IDs autosomal dominant cutis laxa 3 DOID:0070131 ICD10CM:Q82.8 OMIM:616603
				autosomal recessive cutis laxa type III IDs autosomal recessive cutis laxa type III DOID:0070143 MESH:C535990 ORDO:2962 UMLS_CUI:C0268354
				autosomal recessive cutis laxa type IIIA IDs autosomal recessive cutis laxa type IIIA DOID:0070132 ICD10CM:Q82.8 OMIM:219150 ORDO:35664
				cataract IDs cataract DOID:83 ICD10CM:H26 ICD9CM:366.8 OMIM:601371 OMIM:PS116200 UMLS_CUI:C0029531
				enterocele IDs enterocele DOID:1283 ICD10CM:K46 ICD9CM:618.6 MESH:D006547 UMLS_CUI:C0205792
				hereditary spastic paraplegia IDs hereditary spastic paraplegia DOID:2476 ICD10CM:G11.4 ICD9CM:334.1 MESH:D015419 NCI:C140267 OMIM:PS303350 UMLS_CUI:C0037773
				hereditary spastic paraplegia 9A IDs hereditary spastic paraplegia 9A DOID:0110824 ICD10CM:G11.4 OMIM:601162 ORDO:100990 ORDO:447753
				hereditary spastic paraplegia 9B IDs hereditary spastic paraplegia 9B DOID:0110825 ICD10CM:G11.4 OMIM:616586 ORDO:447760

Click on a disease name to see all genes associated with that disease.

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Phenotype Summary

4 phenotypes from 1 allele in 1 genetic background
13 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

8
Endonuclease-mediated

4
Gene trapped

2
Targeted

2
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

48 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for a knock-out allele exhibit complete preweaning lethality. Heterozygotes fed a high-fat diet show mild, multifocal mixed inflammatory cell infiltration with mild fibrosis and distortion of adipocytes in the hypodermal fat layer.

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All GO Annotations

26
GO References

11

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

Biological Process

carbohydrate derivative metabolism	cell differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	membraneless organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

805
Tissues

96
cDNA Data

124
Literature Summary

5

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase aldh18a1

ZFIN aldh18a1

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All Sequences

105
RefSeq

6
UniProt

8
CCDS

CCDS29803.1, CCDS57144.1

Ensembl

ENSMUSG00000025007 (Evidence)
NCBI Gene

56454

			Length	Strain/Species	Flank
genomic	56454	NCBI Gene Model \| MGI Sequence Detail	38207	C57BL/6J	± kb
transcript	NM_019698	RefSeq \| MGI Sequence Detail	3544	C57BL/6
polypeptide	Q9Z110	UniProt \| EBI \| MGI Sequence Detail	795	Not Applicable

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UniProt

8 Sequences
Protein Ontology

PR:000003919 delta-1-pyrroline-5-carboxylate synthase

(term hierarchy)
EC

1.2.1.41, 2.7.2.11
InterPro Domains

IPR036393 Acetylglutamate kinase-like superfamily

IPR016163 Aldehyde dehydrogenase, C-terminal

IPR015590 Aldehyde dehydrogenase domain

IPR016162 Aldehyde dehydrogenase, N-terminal

IPR016161 Aldehyde/histidinol dehydrogenase

IPR001048 Aspartate/glutamate/uridylate kinase

IPR041744 Bifunctional delta 1-pyrroline-5-carboxylate synthetase, glutamate-5-kinase domain

IPR005766 Delta l-pyrroline-5-carboxylate synthetase

IPR020593 Gamma-glutamyl phosphate reductase GPR, conserved site

IPR019797 Glutamate 5-kinase, conserved site

IPR005715 Glutamate 5-kinase/delta-1-pyrroline-5-carboxylate synthase

IPR001057 Glutamate/acetylglutamate kinase

IPR000965 GPR domain
GlyGen

Q9Z110 2 sites, 1 N-linked glycan (1 site), 1 O-linked glycan (1 site)

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All nucleic 125

cDNA 124

Primer pair 1

Microarray probesets 5

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MGI:1917219, MGI:2147532

Summaries

All 51

Developmental Gene Expression 5

Gene Ontology 11

Phenotypes 13
Earliest

J:62501 Hu CA, et al., Molecular enzymology of mammalian Delta1-pyrroline-5-carboxylate synthase. Alternative splice donor utilization generates isoforms with different sensitivity to ornithine inhibition. J Biol Chem. 1999 Mar 5;274(10):6754-62
Latest

J:350444 Martinez-Mayer J, et al., Knockout mice with pituitary malformations help identify human cases of hypopituitarism. Genome Med. 2024 May 31;16(1):75

TSS for Aldh18a1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr159210	Chr19:40576933-40576946 (-)	-33 bp
Tssr159209	Chr19:40576914-40576915 (-)	-8 bp
Tssr159208	Chr19:40576897-40576908 (-)	4 bp
Tssr159207	Chr19:40576872-40576883 (-)	29 bp
Tssr159206	Chr19:40576818-40576870 (-)	63 bp
Tssr159205	Chr19:40576782-40576815 (-)	108 bp
Tssr159204	Chr19:40553486-40553502 (-)	23,413 bp
Tssr159203	Chr19:40553439-40553457 (-)	23,459 bp
Tssr159202	Chr19:40553417-40553431 (-)	23,483 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 11/12/2024 MGI 6.24