Aldh1a1 MGI Mouse Gene Detail - MGI:1353450 - aldehyde dehydrogenase family 1, subfamily A1

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Aldh1a1 Gene Detail

Symbol

Aldh1a1
Name

aldehyde dehydrogenase family 1, subfamily A1
Synonyms

Ahd-2, Ahd2, ALDH1, E1, Raldh1

Feature Type

protein coding gene
IDs

MGI:1353450
NCBI Gene: 11668
Alliance

gene page
Transcription Start Sites

2 TSS
Candidate for QTL

6 QTL

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Sequence Map

Chr19:20470079-20620829 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 19, 13.91 cM
Mapping Data

8 experiments

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SNPs within 2kb

4685 from dbSNP Build 142
Strain Annotations

18
RFLP

3

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates	Select Strains
C57BL/6J	MGI_C57BL6J_1353450	protein coding gene	Chr19:20469947-20620829 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0024973	protein coding gene	Chr19:18597635-18644400 (+)
A/J	MGP_AJ_G0024950	protein coding gene	Chr19:17576509-17619326 (+)
AKR/J	MGP_AKRJ_G0024920	protein coding gene	Chr19:18243180-18284818 (+)
BALB/cJ	MGP_BALBcJ_G0024949	protein coding gene	Chr19:17594173-17638319 (+)
C3H/HeJ	MGP_C3HHeJ_G0024707	protein coding gene	Chr19:18205708-18248036 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0025391	protein coding gene	Chr19:19246238-19291523 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0022810	protein coding gene	Chr19:17872113-17913217 (+)
CAST/EiJ	MGP_CASTEiJ_G0024175	protein coding gene	Chr19:17855065-17897662 (+)
CBA/J	MGP_CBAJ_G0024685	protein coding gene	Chr19:20011825-20058539 (+)
DBA/2J	MGP_DBA2J_G0024817	protein coding gene	Chr19:17588749-17632928 (+)
FVB/NJ	MGP_FVBNJ_G0024778	protein coding gene	Chr19:17453427-17495887 (+)
LP/J	MGP_LPJ_G0024901	protein coding gene	Chr19:18550713-18594122 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0024805	protein coding gene	Chr19:20149646-20195374 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0025446	protein coding gene	Chr19:18205063-18246514 (+)
PWK/PhJ	MGP_PWKPhJ_G0023924	protein coding gene	Chr19:17121752-17163989 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0023729	protein coding gene	Chr19:17475265-17516667 (+)
WSB/EiJ	MGP_WSBEiJ_G0024243	protein coding gene	Chr19:18255923-18305414 (+)

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Human Ortholog

ALDH1A1, aldehyde dehydrogenase 1 family member A1

Vertebrate Orthologs

2

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

ALDH1A1, aldehyde dehydrogenase 1 family member A1
Synonyms

ALDC, ALDH1, ALDH11, ALDH-E1, HEL12, HEL-9, HEL-S-53e, PUMB1, RALDH1
Links

HGNC:402

NCBI Gene ID: 216

neXtProt AC: NX_P00352

UniProt: P00352
Chr Location

9q21.13; chr9:72900671-73080442 (-) GRCh38

MGI Vertebrate Homology

Aldh1a1 stringent orthology
1 human;1 mouse;1 rat
HCOP

vertebrate homology predictions: ALDH1A1
Gene Tree

Aldh1a1

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Phenotype Summary

3 phenotypes from 3 alleles in 3 genetic backgrounds
27 phenotypes from multigenic genotypes
51 phenotype references

Phenotype Overview

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

10
Endonuclease-mediated

5
Targeted

5
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

39 strains or lines available
Comparison Matrix

Gene Expression + Phenotype
Recombinase Activity

Comparison Matrix Gene Expression + Recombinase Activity

Mice homozygous for a disruption in this gene show a significantly reduced ability to convert retinol to retinoic acid in the liver. Retinal morphology is normal even though the gene is normally highly expressed in the dorsal retina. Mice lacking both Aldh1a1 and Aldh1a2 exhibit azoospermia.

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All GO Annotations

46
GO References

20

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

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

1251
Tissues

331
cDNA Data

211
Literature Summary

137

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

GEISHA ALDH1A1

Xenbase aldh1a1

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All Sequences

50
RefSeq

10
UniProt

2
CCDS

CCDS29695.1

Ensembl

ENSMUSG00000053279 (Evidence)
NCBI Gene

11668

Representative Sequences				Length	Strain/Species	Flank
	genomic	ENSMUSG00000053279	Ensembl Gene Model \| MGI Sequence Detail	150751	C57BL/6J	± kb
	transcript	ENSMUST00000087638	Ensembl \| MGI Sequence Detail	2053	Not Applicable
	polypeptide	ENSMUSP00000084918	Ensembl \| MGI Sequence Detail	501	Not Applicable

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UniProt

2 Sequences
Protein Ontology

PR:000003920 aldehyde dehydrogenase 1A1

(term hierarchy)
PDB

7YOB
EC

1.2.1.19, 1.2.1.28, 1.2.1.3, 1.2.1.36
InterPro Domains

IPR016163 Aldehyde dehydrogenase, C-terminal

IPR016160 Aldehyde dehydrogenase, cysteine active site

IPR015590 Aldehyde dehydrogenase domain

IPR029510 Aldehyde dehydrogenase, glutamic acid active site

IPR016162 Aldehyde dehydrogenase, N-terminal

IPR016161 Aldehyde/histidinol dehydrogenase
GlyGen

P24549 2 sites, 1 N-linked glycan (1 site), 1 O-linked glycan (1 site)

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All nucleic 250

Genomic 3

cDNA 214

Primer pair 21

Other 12

Microarray probesets 3

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MGD-MRK-1206, MGD-MRK-1213, MGD-MRK-16383, MGI:99601

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Summaries

All 248

Developmental Gene Expression 137

Gene Ontology 20

Phenotypes 51
Earliest

J:322154 Hue L, et al., The conversion of (4- 3 H)fructose and of (4- 3 H)glucose to liver glycogen in the mouse. An investigation of the glyceraldehyde crossroads. Eur J Biochem. 1972 Sep 18;29(2):268-75
Latest

J:349179 Azcorra M, et al., Unique functional responses differentially map onto genetic subtypes of dopamine neurons. Nat Neurosci. 2023 Oct;26(10):1762-1774

TSS for Aldh1a1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr155481	Chr19:20579322-20579338 (+)	109,251 bp
Tssr155482	Chr19:20617418-20617450 (+)	147,355 bp

Aldh1a1 is Candidate Gene for:

QTL	Genetic Location*	Genome Location (GRCm39)	Reference	QTL Note
Afw8	Chr19, syntenic		J:99477	Authors used novel data mining tool ExQuest to identify novel candidate genes for existing diabesity QTLs. Next, candidate gene expression in the liver, adipose, and pancreas of diabesity-prone Tally Ho mice and diabesity-resistant C57BL/6J mice was assessed by quantitative PCR analysis. Several potential candidate genes, some with no previous association to diabesity QTLs, were identified. Since QTL intervals may be large and could contain hundreds or thousands of potential candidate genes, this method allows researchers to focus on those with strong potential as well as identify novel candidate genes. Potential candidate genes for Iba4 (20 cM) on mouse Chromosome 19 as identified by ExQuest are Aldh1a1 (12 cM), Aldh1a7, Vldlr (20 cM), and Plce1. Vldlr exhibits 15.6-fold increased expression in the liver of Tally Ho compared to C57BL/6 animals. For QTL Afw8 (26 cM), potential candidate genes Pi4k2a, Cpn1, and Elovl3 (47 cM) were identified. For QTLs Nobq2 (47 cM) and Bglq13 (51 cM), potential candidate genes Ins1 (49 cM), Gpam (52 cM), and Acsl5 were identified. For QTLs Tanidd1 (50 cM) and T2dm2 (53 cM), potential candidate genes Gfra1, Pnlip (29 cM), Pnliprp1 (29 cM), and Pnliprp2 were identified. Pnliprp2 exhibits 21.8-fold decreased expression in the pancreas of Tally Ho animals in response to a 4% fat diet.
Bglq13	Chr19, syntenic		J:99477	Authors used novel data mining tool ExQuest to identify novel candidate genes for existing diabesity QTLs. Next, candidate gene expression in the liver, adipose, and pancreas of diabesity-prone Tally Ho mice and diabesity-resistant C57BL/6J mice was assessed by quantitative PCR analysis. Several potential candidate genes, some with no previous association to diabesity QTLs, were identified. Since QTL intervals may be large and could contain hundreds or thousands of potential candidate genes, this method allows researchers to focus on those with strong potential as well as identify novel candidate genes. Potential candidate genes for Iba4 (20 cM) on mouse Chromosome 19 as identified by ExQuest are Aldh1a1 (12 cM), Aldh1a7, Vldlr (20 cM), and Plce1. Vldlr exhibits 15.6-fold increased expression in the liver of Tally Ho compared to C57BL/6 animals. For QTL Afw8 (26 cM), potential candidate genes Pi4k2a, Cpn1, and Elovl3 (47 cM) were identified. For QTLs Nobq2 (47 cM) and Bglq13 (51 cM), potential candidate genes Ins1 (49 cM), Gpam (52 cM), and Acsl5 were identified. For QTLs Tanidd1 (50 cM) and T2dm2 (53 cM), potential candidate genes Gfra1, Pnlip (29 cM), Pnliprp1 (29 cM), and Pnliprp2 were identified. Pnliprp2 exhibits 21.8-fold decreased expression in the pancreas of Tally Ho animals in response to a 4% fat diet.
Iba4	Chr19, 20.99 cM	Chr19:26305715-26305821	J:99477	Authors used novel data mining tool ExQuest to identify novel candidate genes for existing diabesity QTLs. Next, candidate gene expression in the liver, adipose, and pancreas of diabesity-prone Tally Ho mice and diabesity-resistant C57BL/6J mice was assessed by quantitative PCR analysis. Several potential candidate genes, some with no previous association to diabesity QTLs, were identified. Since QTL intervals may be large and could contain hundreds or thousands of potential candidate genes, this method allows researchers to focus on those with strong potential as well as identify novel candidate genes. Potential candidate genes for Iba4 (20 cM) on mouse Chromosome 19 as identified by ExQuest are Aldh1a1 (12 cM), Aldh1a7, Vldlr (20 cM), and Plce1. Vldlr exhibits 15.6-fold increased expression in the liver of Tally Ho compared to C57BL/6 animals. For QTL Afw8 (26 cM), potential candidate genes Pi4k2a, Cpn1, and Elovl3 (47 cM) were identified. For QTLs Nobq2 (47 cM) and Bglq13 (51 cM), potential candidate genes Ins1 (49 cM), Gpam (52 cM), and Acsl5 were identified. For QTLs Tanidd1 (50 cM) and T2dm2 (53 cM), potential candidate genes Gfra1, Pnlip (29 cM), Pnliprp1 (29 cM), and Pnliprp2 were identified. Pnliprp2 exhibits 21.8-fold decreased expression in the pancreas of Tally Ho animals in response to a 4% fat diet.
Nobq2	Chr19, 40.53 cM	Chr19:47897880-47897988	J:99477	Authors used novel data mining tool ExQuest to identify novel candidate genes for existing diabesity QTLs. Next, candidate gene expression in the liver, adipose, and pancreas of diabesity-prone Tally Ho mice and diabesity-resistant C57BL/6J mice was assessed by quantitative PCR analysis. Several potential candidate genes, some with no previous association to diabesity QTLs, were identified. Since QTL intervals may be large and could contain hundreds or thousands of potential candidate genes, this method allows researchers to focus on those with strong potential as well as identify novel candidate genes. Potential candidate genes for Iba4 (20 cM) on mouse Chromosome 19 as identified by ExQuest are Aldh1a1 (12 cM), Aldh1a7, Vldlr (20 cM), and Plce1. Vldlr exhibits 15.6-fold increased expression in the liver of Tally Ho compared to C57BL/6 animals. For QTL Afw8 (26 cM), potential candidate genes Pi4k2a, Cpn1, and Elovl3 (47 cM) were identified. For QTLs Nobq2 (47 cM) and Bglq13 (51 cM), potential candidate genes Ins1 (49 cM), Gpam (52 cM), and Acsl5 were identified. For QTLs Tanidd1 (50 cM) and T2dm2 (53 cM), potential candidate genes Gfra1, Pnlip (29 cM), Pnliprp1 (29 cM), and Pnliprp2 were identified. Pnliprp2 exhibits 21.8-fold decreased expression in the pancreas of Tally Ho animals in response to a 4% fat diet.
T2dm2	Chr19, 50.72 cM	Chr19:55376050-55376167	J:99477	Authors used novel data mining tool ExQuest to identify novel candidate genes for existing diabesity QTLs. Next, candidate gene expression in the liver, adipose, and pancreas of diabesity-prone Tally Ho mice and diabesity-resistant C57BL/6J mice was assessed by quantitative PCR analysis. Several potential candidate genes, some with no previous association to diabesity QTLs, were identified. Since QTL intervals may be large and could contain hundreds or thousands of potential candidate genes, this method allows researchers to focus on those with strong potential as well as identify novel candidate genes. Potential candidate genes for Iba4 (20 cM) on mouse Chromosome 19 as identified by ExQuest are Aldh1a1 (12 cM), Aldh1a7, Vldlr (20 cM), and Plce1. Vldlr exhibits 15.6-fold increased expression in the liver of Tally Ho compared to C57BL/6 animals. For QTL Afw8 (26 cM), potential candidate genes Pi4k2a, Cpn1, and Elovl3 (47 cM) were identified. For QTLs Nobq2 (47 cM) and Bglq13 (51 cM), potential candidate genes Ins1 (49 cM), Gpam (52 cM), and Acsl5 were identified. For QTLs Tanidd1 (50 cM) and T2dm2 (53 cM), potential candidate genes Gfra1, Pnlip (29 cM), Pnliprp1 (29 cM), and Pnliprp2 were identified. Pnliprp2 exhibits 21.8-fold decreased expression in the pancreas of Tally Ho animals in response to a 4% fat diet.
Tanidd1	Chr19, 48.46 cM	Chr19:53752597-53752718	J:99477	Authors used novel data mining tool ExQuest to identify novel candidate genes for existing diabesity QTLs. Next, candidate gene expression in the liver, adipose, and pancreas of diabesity-prone Tally Ho mice and diabesity-resistant C57BL/6J mice was assessed by quantitative PCR analysis. Several potential candidate genes, some with no previous association to diabesity QTLs, were identified. Since QTL intervals may be large and could contain hundreds or thousands of potential candidate genes, this method allows researchers to focus on those with strong potential as well as identify novel candidate genes. Potential candidate genes for Iba4 (20 cM) on mouse Chromosome 19 as identified by ExQuest are Aldh1a1 (12 cM), Aldh1a7, Vldlr (20 cM), and Plce1. Vldlr exhibits 15.6-fold increased expression in the liver of Tally Ho compared to C57BL/6 animals. For QTL Afw8 (26 cM), potential candidate genes Pi4k2a, Cpn1, and Elovl3 (47 cM) were identified. For QTLs Nobq2 (47 cM) and Bglq13 (51 cM), potential candidate genes Ins1 (49 cM), Gpam (52 cM), and Acsl5 were identified. For QTLs Tanidd1 (50 cM) and T2dm2 (53 cM), potential candidate genes Gfra1, Pnlip (29 cM), Pnliprp1 (29 cM), and Pnliprp2 were identified. Pnliprp2 exhibits 21.8-fold decreased expression in the pancreas of Tally Ho animals in response to a 4% fat diet.

*cM position of peak correlated region/marker

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