Aldh4a1 MGI Mouse Gene Detail - MGI:2443883 - aldehyde dehydrogenase 4 family, member A1

Symbol

Aldh4a1
Name

aldehyde dehydrogenase 4 family, member A1
Synonyms

A930035F14Rik, Ahd-1, Ahd1, ALDH4, P5CDH, Ssdh1

Feature Type

protein coding gene
IDs

MGI:2443883
NCBI Gene: 212647
Alliance

gene page
Transcription Start Sites

3 TSS

Sequence Map

Chr4:139350177-139377001 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 4, 70.79 cM
Mapping Data

29 experiments

SNPs within 2kb

997 from dbSNP Build 142
Strain Annotations

18
RFLP

1

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_2443883	protein coding gene	Chr4:139348404-139377002 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0029021	protein coding gene	Chr4:142469305-142497807 (+)
A/J	MGP_AJ_G0028980	protein coding gene	Chr4:136345297-136372181 (+)
AKR/J	MGP_AKRJ_G0028932	protein coding gene	Chr4:140249297-140282171 (+)
BALB/cJ	MGP_BALBcJ_G0029004	protein coding gene	Chr4:137022139-137050187 (+)
C3H/HeJ	MGP_C3HHeJ_G0028718	protein coding gene	Chr4:140641662-140669739 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0029445	protein coding gene	Chr4:147522435-147551285 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0026716	protein coding gene	Chr4:129296066-129322977 (+)
CAST/EiJ	MGP_CASTEiJ_G0028150	protein coding gene	Chr4:138833626-138860580 (+)
CBA/J	MGP_CBAJ_G0028682	protein coding gene	Chr4:151765065-151791931 (+)
DBA/2J	MGP_DBA2J_G0028832	protein coding gene	Chr4:136745328-136772548 (+)
FVB/NJ	MGP_FVBNJ_G0028799	protein coding gene	Chr4:135781177-135807868 (+)
LP/J	MGP_LPJ_G0028931	protein coding gene	Chr4:142551723-142578603 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0028825	protein coding gene	Chr4:155657360-155685507 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0029483	protein coding gene	Chr4:140776831-140805714 (+)
PWK/PhJ	MGP_PWKPhJ_G0027871	protein coding gene	Chr4:133593551-133620647 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0027696	protein coding gene	Chr4:136570131-136597029 (+)
WSB/EiJ	MGP_WSBEiJ_G0028228	protein coding gene	Chr4:141042318-141069206 (+)

Human Ortholog

ALDH4A1, aldehyde dehydrogenase 4 family member A1

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

ALDH4A1, aldehyde dehydrogenase 4 family member A1
Synonyms

ALDH4, P5CD, P5CDh
Links

HGNC:406

NCBI Gene ID: 8659

neXtProt AC: NX_P30038

UniProt: P30038
Chr Location

1p36.13; chr1:18871430-18902724 (-) GRCh38

MGI Vertebrate Homology

Aldh4a1 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: ALDH4A1
Gene Tree

Aldh4a1

Diseases

1 with human ALDH4A1 associations

				Human Disease	Mouse Models
				hyperprolinemia type 2 IDs hyperprolinemia type 2 DOID:0080543 MESH:C538385 OMIM:239510 ORDO:79101

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

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Phenotype Summary

2 phenotypes from 1 allele in 1 genetic background
11 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

12
Chemically induced (other)

2
Endonuclease-mediated

6
Targeted

4
Genomic Mutations

3 involving Aldh4a1
Incidental Mutations

APF
Find Mice (IMSR)

32 strains or lines available

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All GO Annotations

13
GO References

8

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

834
Tissues

125
cDNA Data

169
Literature Summary

6

Images

Tissue x Stage Matrix

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

GEISHA ALDH4A1

Xenbase aldh4a1

ZFIN aldh4a1

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All Sequences

48
RefSeq

4
UniProt

3
CCDS

CCDS18848.1

Ensembl

ENSMUSG00000028737 (Evidence)
NCBI Gene

212647

			Length	Strain/Species	Flank
genomic	ENSMUSG00000028737	Ensembl Gene Model \| MGI Sequence Detail	26825	C57BL/6J	± kb
transcript	ENSMUST00000039818	Ensembl \| MGI Sequence Detail	3382	Not Applicable
polypeptide	ENSMUSP00000043821	Ensembl \| MGI Sequence Detail	562	Not Applicable

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UniProt

3 Sequences
Protein Ontology

PR:000003928 delta-1-pyrroline-5-carboxylate dehydrogenase, mitochondrial

(term hierarchy)
PDB

3V9J, 3V9K, 3V9L, 4E3X, 4LGZ, 4LH0, 4LH1, 4LH2, 4LH3, 7MER, 7MES
EC

1.2.1.3, 1.2.1.88
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

IPR005931 Delta-1-pyrroline-5-carboxylate dehydrogenase

IPR050485 Proline metabolism enzyme
GlyGen

Q8CHT0 1 site, 1 O-linked glycan (1 site)

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All nucleic 171

cDNA 169

Primer pair 2

Microarray probesets 2

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MGD-MRK-1205, MGD-MRK-1212, MGD-MRK-16330, MGI:1353453, MGI:99552

Summaries

All 69

Developmental Gene Expression 6

Gene Ontology 8

Phenotypes 11
Earliest

J:6127 Holmes RS, Genetics and ontogeny of aldehyde dehydrogenase isozymes in the mouse: localization of Ahd-1 encoding the mitochondrial isozyme on chromosome 4. Biochem Genet. 1978 Dec;16(11-12):1207-18
Latest

J:347602 Shi Y, et al., Diphthamide deficiency promotes association of eEF2 with p53 to induce p21 expression and neural crest defects. Nat Commun. 2024 Apr 26;15(1):3301

TSS for Aldh4a1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr39958	Chr4:139350153-139350213 (+)	6 bp
Tssr39959	Chr4:139350400-139350445 (+)	246 bp
Tssr39960	Chr4:139356710-139356718 (+)	6,537 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