Akr1d1 MGI Mouse Gene Detail - MGI:2384785 - aldo-keto reductase family 1, member D1

Symbol

Akr1d1
Name

aldo-keto reductase family 1, member D1
Synonyms

MGC:25814

Feature Type

protein coding gene
IDs

MGI:2384785
NCBI Gene: 208665
Alliance

gene page
Transcription Start Sites

3 TSS

Sequence Map

Chr6:37507108-37545750 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 6, 16.44 cM
Mapping Data

1 experiment

SNPs within 2kb

910 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_2384785	protein coding gene	Chr6:37506913-37551856 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0030577	protein coding gene	Chr6:35758847-35798530 (+)
A/J	MGP_AJ_G0030550	protein coding gene	Chr6:34227706-34262021 (+)
AKR/J	MGP_AKRJ_G0030477	protein coding gene	Chr6:35331452-35365898 (+)
BALB/cJ	MGP_BALBcJ_G0030560	protein coding gene	Chr6:34419574-34456191 (+)
C3H/HeJ	MGP_C3HHeJ_G0030273	protein coding gene	Chr6:35328802-35363741 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0031014	protein coding gene	Chr6:36659606-36710244 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0028226	protein coding gene	Chr6:32144245-32181675 (+)
CAST/EiJ	MGP_CASTEiJ_G0029675	protein coding gene	Chr6:35169492-35205969 (+)
CBA/J	MGP_CBAJ_G0030251	protein coding gene	Chr6:38056003-38094271 (+)
DBA/2J	MGP_DBA2J_G0030395	protein coding gene	Chr6:34060938-34095248 (+)
FVB/NJ	MGP_FVBNJ_G0030349	protein coding gene	Chr6:33848617-33885014 (+)
LP/J	MGP_LPJ_G0030482	protein coding gene	Chr6:35828588-35865519 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0030385	protein coding gene	Chr6:40460288-40498737 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0031044	protein coding gene	Chr6:35237212-35273118 (+)
PWK/PhJ	MGP_PWKPhJ_G0029389	protein coding gene	Chr6:33689761-33726076 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0029225	protein coding gene	Chr6:34923162-34961862 (+)
WSB/EiJ	MGP_WSBEiJ_G0029751	protein coding gene	Chr6:35174274-35212222 (+)

Human Ortholog

AKR1D1, aldo-keto reductase family 1 member D1

Vertebrate Orthologs

2

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

AKR1D1, aldo-keto reductase family 1 member D1
Synonyms

3o5bred, CBAS2, SRD5B1
Links

HGNC:388

NCBI Gene ID: 6718

neXtProt AC: NX_P51857

UniProt: P51857
Chr Location

7q33; chr7:138002324-138118305 (+) GRCh38

MGI Vertebrate Homology

Akr1d1 stringent orthology
1 human;1 mouse;1 rat
HCOP

vertebrate homology predictions: AKR1D1
Protein SuperFamily

AKR
Gene Tree

Akr1d1

Diseases

1 with human AKR1D1 associations

				Human Disease	Mouse Models
				congenital bile acid synthesis defect 2 IDs congenital bile acid synthesis defect 2 DOID:0111069 MESH:C535443 OMIM:235555 ORDO:79303 UMLS_CUI:C1856127

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
7 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

5
Targeted

5
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

21 strains or lines available

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All GO Annotations

19
GO References

6

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

817
Tissues

110
cDNA Data

12
Literature Summary

2

Images

Tissue x Stage Matrix

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase akr1d1

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All Sequences

42
RefSeq

16
UniProt

1
CCDS

CCDS20007.1

Ensembl

ENSMUSG00000038641 (Evidence)
NCBI Gene

208665

			Length	Strain/Species	Flank
genomic	ENSMUSG00000038641	Ensembl Gene Model \| MGI Sequence Detail	38643	C57BL/6J	± kb
transcript	ENSMUST00000040987	Ensembl \| MGI Sequence Detail	2699	Not Applicable
polypeptide	ENSMUSP00000048830	Ensembl \| MGI Sequence Detail	325	Not Applicable

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UniProt

1 Sequence
Protein Ontology

PR:000003907 aldo-keto reductase family 1 member D1

(term hierarchy)
EC

1.3.1.3
InterPro Domains

IPR020471 Aldo-keto reductase

IPR018170 Aldo/keto reductase, conserved site

IPR044483 Aldo-keto reductase family 1 member D1

IPR023210 NADP-dependent oxidoreductase domain

IPR036812 NADP-dependent oxidoreductase domain superfamily

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All nucleic 12

cDNA 12

Microarray probesets 2

Summaries

All 30

Developmental Gene Expression 2

Gene Ontology 6

Phenotypes 7
Earliest

J:82195 Vergnes L, et al., A cluster of eight hydroxysteroid dehydrogenase genes belonging to the aldo-keto reductase supergene family on mouse chromosome 13. J Lipid Res. 2003 Mar;44(3):503-11
Latest

J:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136

TSS for Akr1d1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr55614	Chr6:37507092-37507093 (+)	-15 bp
Tssr55615	Chr6:37507119-37507133 (+)	18 bp
Tssr55616	Chr6:37507139-37507175 (+)	49 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 12/10/2024 MGI 6.24