Idh1 MGI Mouse Gene Detail - MGI:96413 - isocitrate dehydrogenase 1 (NADP+), soluble

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Idh1 Gene Detail

Symbol

Idh1
Name

isocitrate dehydrogenase 1 (NADP+), soluble
Synonyms

E030024J03Rik, Id-1, Idh-1, IDPc

Feature Type

protein coding gene
IDs

MGI:96413
NCBI Gene: 15926
Alliance

gene page
Transcription Start Sites

10 TSS
Candidate for QTL

6 QTL

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Sequence Map

Chr1:65197775-65225638 bp, - strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 1, 32.91 cM
Mapping Data

95 experiments

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SNPs within 2kb

798 from dbSNP Build 142
Strain Annotations

17

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates	Select Strains
C57BL/6J	no annotation
129S1/SvImJ	MGP_129S1SvImJ_G0016108	protein coding gene	Chr1:65359110-65387031 (-)
A/J	MGP_AJ_G0016091	protein coding gene	Chr1:63052068-63079940 (-)
AKR/J	MGP_AKRJ_G0016048	protein coding gene	Chr1:64816106-64843926 (-)
BALB/cJ	MGP_BALBcJ_G0016046	protein coding gene	Chr1:63150191-63178082 (-)
C3H/HeJ	MGP_C3HHeJ_G0015877	protein coding gene	Chr1:65092212-65120925 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0016499	protein coding gene	Chr1:67879085-67910344 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0014220	protein coding gene	Chr1:59100154-59126298 (-)
CAST/EiJ	MGP_CASTEiJ_G0015461	protein coding gene	Chr1:64361595-64389996 (-)
CBA/J	MGP_CBAJ_G0015850	protein coding gene	Chr1:70077827-70105674 (-)
DBA/2J	MGP_DBA2J_G0015951	protein coding gene	Chr1:62452916-62480942 (-)
FVB/NJ	MGP_FVBNJ_G0015954	protein coding gene	Chr1:61728037-61755892 (-)
LP/J	MGP_LPJ_G0016023	protein coding gene	Chr1:66254256-66281968 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0015974	protein coding gene	Chr1:72944449-72973626 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0016546	protein coding gene	Chr1:64816241-64844489 (-)
PWK/PhJ	MGP_PWKPhJ_G0015247	protein coding gene	Chr1:61851071-61879078 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0015027	protein coding gene	Chr1:64288812-64318851 (-)
WSB/EiJ	MGP_WSBEiJ_G0015523	protein coding gene	Chr1:64518196-64546082 (-)

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Human Ortholog

IDH1, isocitrate dehydrogenase (NADP(+)) 1

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

IDH1, isocitrate dehydrogenase (NADP(+)) 1
Synonyms

HEL-216, HEL-S-26, IDCD, IDH, IDP, IDPC, PICD
Links

HGNC:5382

NCBI Gene ID: 3417

neXtProt AC: NX_O75874

UniProt: O75874
Chr Location

2q34; chr2:208236227-208266074 (-) GRCh38

MGI Vertebrate Homology

Idh1 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: IDH1
Protein SuperFamily

IDH_NADP
Gene Tree

Idh1

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Diseases

6 with human IDH1 associations

				Human Disease	Mouse Models
				acute myeloid leukemia IDs acute myeloid leukemia DOID:9119 DOID:9118 DOID:9171 ICD10CM:C92.0 ICD9CM:205.0 KEGG:05221 MESH:D015470 NCI:C3171 OMIM:601626 UMLS_CUI:C0023467 Close
				autoimmune disease IDs autoimmune disease DOID:417 ICD9CM:720 OMIM:109100 UMLS_CUI:C0003089 Close
				glioblastoma IDs glioblastoma DOID:3068 DOID:3075 DOID:3080 MESH:D005909 NCI:C129295 NCI:C39750 NCI:C9094 UMLS_CUI:C0017636 UMLS_CUI:C0278878 UMLS_CUI:C1514422 Close
				hepatocellular clear cell carcinoma IDs hepatocellular clear cell carcinoma DOID:5016 NCI:C5754 UMLS_CUI:C1266020 Close
				high grade glioma IDs high grade glioma DOID:3070 DOID:2627 KEGG:05214 MESH:D005910 NCI:C3059 NCI:C4822 OMIM:PS137800 ORDO:182067 UMLS_CUI:C0017638 UMLS_CUI:C0555198 Close
				myelodysplastic syndrome IDs myelodysplastic syndrome DOID:0050908 MESH:D009190 OMIM:614286 UMLS_CUI:C2713368 Close

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

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Phenotype Summary

30 phenotypes from 4 alleles in 6 genetic backgrounds
38 phenotype references

Phenotype Overview

Phenotype Overview

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

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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

37
Chemically induced (other)

1
Endonuclease-mediated

7
Gene trapped

14
Radiation induced

1
Targeted

14
Genomic Mutations

2 involving Idh1
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

44 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Electrophoretic variation has been shown in tissues of liver, kidney, spleen and muscle. Strains C57BL/6, C3H/He carry the a allele; DBA/2 carries the b allele; M.m. castaneus and M.m. molossinus carry the c allele; the d allele is found at low frequencyin M. m. molossinus in Japan.

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All GO Annotations

43
GO References

15

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).

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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

1099
Tissues

167
cDNA Data

18
Literature Summary

13

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase idh1

ZFIN idh1

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All Sequences

66
RefSeq

4
UniProt

10
CCDS

CCDS15016.1

Ensembl

ENSMUSG00000025950 (Evidence)
NCBI Gene

15926

Representative Sequences				Length	Strain/Species	Flank
	genomic	15926	NCBI Gene Model \| MGI Sequence Detail	27864	C57BL/6J	± kb
	transcript	NM_001111320	RefSeq \| MGI Sequence Detail	2292	ZRU/MplStud
	polypeptide	O88844	UniProt \| EBI \| MGI Sequence Detail	414	Not Applicable

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UniProt

10 Sequences
Protein Ontology

PR:000008887 isocitrate dehydrogenase [NADP] cytoplasmic

(term hierarchy)
PDB

5YZH, 5YZI, 8KIB, 8W49
EC

1.1.1.42
InterPro Domains

IPR004790 Isocitrate dehydrogenase NADP-dependent

IPR019818 Isocitrate/isopropylmalate dehydrogenase, conserved site

IPR024084 Isopropylmalate dehydrogenase-like domain
GlyGen

O88844 2 sites, 1 N-linked glycan (1 site), 1 O-linked glycan (1 site)

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All nucleic 21

cDNA 18

Primer pair 3

Microarray probesets 4

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MGD-MRK-11152, MGD-MRK-11180, MGD-MRK-11183, MGI:2138196, MGI:2138322

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Summaries

All 183

Developmental Gene Expression 13

Gene Ontology 15

Phenotypes 38
Earliest

J:13010 HENDERSON NS, ISOZYMES OF ISOCITRATE DEHYDROGENASE: SUBUNIT STRUCTURE AND INTRACELLULAR LOCATION. J Exp Zool. 1965 Apr;158:263-73
Latest

J:346910 Ayyangar U, et al., Metabolic rewiring of macrophages by epidermal-derived lactate promotes sterile inflammation in the murine skin. EMBO J. 2024 Apr;43(7):1113-1134

TSS for Idh1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr11995	Chr1:65225615-65225663 (-)	-1 bp
Tssr11994	Chr1:65225573-65225585 (-)	59 bp
Tssr11993	Chr1:65225555-65225568 (-)	76 bp
Tssr11992	Chr1:65223273-65223277 (-)	2,363 bp
Tssr11991	Chr1:65218217-65218280 (-)	7,389 bp
Tssr11990	Chr1:65218203-65218214 (-)	7,429 bp
Tssr11989	Chr1:65214292-65214299 (-)	11,342 bp
Tssr11988	Chr1:65200241-65200262 (-)	25,386 bp
Tssr11987	Chr1:65198546-65198556 (-)	27,087 bp
Tssr11986	Chr1:65198199-65198215 (-)	27,431 bp

Idh1 is Candidate Gene for:

QTL	Genetic Location*	Genome Location (GRCm39)	Reference	QTL Note
Bw5	Chr1, syntenic		J:91835	The correlation between gene expression and dietary interaction was examined in a population of (BALB/cStCrlfC3H/Nctr x VY/WffC3Hf/Nctr-A(vy)/a)F1 animals. A/a and A/A animals were placed on a 70% (calorie restricted) or 100% (non-restricted) diet andliver mRNA levels were assessed for over 18,000 genes using DNA microarrays. Twenty-eight known genes showing statistically significant differential expression between the 70% and 100% calorie diets and A/a and A/A genotypes mapped near known diabesity QTLs. These genes may be considered further for candidate genes. On mouse Chromosome 1, Idh1 (29.8 cM) showed differential expression between restricted and unrestricted diets on the A/a background. Diabesity QTLs mapping near Idh1 are Dbsty1 (21 cM),Insq2 (36 cM), Wt10q1 (25 cM), Wt6q1 (27 cM), Obq7 (28.7 cM), and Bw5 (36 cM). At another locus, Pea15 (93.8 cM) showed differential expression between restricted and unrestricted diets on the A/a background and F11r (93.3 cM) showed differential expression between A/a and A/A animals on the restricted diet. Diabesity QTL Obq9 (88.4 cM) maps near Pea15 and F11r.
Dbsty1	Chr1, 17.67 cM		J:91835	The correlation between gene expression and dietary interaction was examined in a population of (BALB/cStCrlfC3H/Nctr x VY/WffC3Hf/Nctr-A(vy)/a)F1 animals. A/a and A/A animals were placed on a 70% (calorie restricted) or 100% (non-restricted) diet andliver mRNA levels were assessed for over 18,000 genes using DNA microarrays. Twenty-eight known genes showing statistically significant differential expression between the 70% and 100% calorie diets and A/a and A/A genotypes mapped near known diabesity QTLs. These genes may be considered further for candidate genes. On mouse Chromosome 1, Idh1 (29.8 cM) showed differential expression between restricted and unrestricted diets on the A/a background. Diabesity QTLs mapping near Idh1 are Dbsty1 (21 cM),Insq2 (36 cM), Wt10q1 (25 cM), Wt6q1 (27 cM), Obq7 (28.7 cM), and Bw5 (36 cM). At another locus, Pea15 (93.8 cM) showed differential expression between restricted and unrestricted diets on the A/a background and F11r (93.3 cM) showed differential expression between A/a and A/A animals on the restricted diet. Diabesity QTL Obq9 (88.4 cM) maps near Pea15 and F11r.
Insq2	Chr1, syntenic		J:91835	The correlation between gene expression and dietary interaction was examined in a population of (BALB/cStCrlfC3H/Nctr x VY/WffC3Hf/Nctr-A(vy)/a)F1 animals. A/a and A/A animals were placed on a 70% (calorie restricted) or 100% (non-restricted) diet andliver mRNA levels were assessed for over 18,000 genes using DNA microarrays. Twenty-eight known genes showing statistically significant differential expression between the 70% and 100% calorie diets and A/a and A/A genotypes mapped near known diabesity QTLs. These genes may be considered further for candidate genes. On mouse Chromosome 1, Idh1 (29.8 cM) showed differential expression between restricted and unrestricted diets on the A/a background. Diabesity QTLs mapping near Idh1 are Dbsty1 (21 cM),Insq2 (36 cM), Wt10q1 (25 cM), Wt6q1 (27 cM), Obq7 (28.7 cM), and Bw5 (36 cM). At another locus, Pea15 (93.8 cM) showed differential expression between restricted and unrestricted diets on the A/a background and F11r (93.3 cM) showed differential expression between A/a and A/A animals on the restricted diet. Diabesity QTL Obq9 (88.4 cM) maps near Pea15 and F11r.
Obq7	Chr1, 33.31 cM		J:91835	The correlation between gene expression and dietary interaction was examined in a population of (BALB/cStCrlfC3H/Nctr x VY/WffC3Hf/Nctr-A(vy)/a)F1 animals. A/a and A/A animals were placed on a 70% (calorie restricted) or 100% (non-restricted) diet andliver mRNA levels were assessed for over 18,000 genes using DNA microarrays. Twenty-eight known genes showing statistically significant differential expression between the 70% and 100% calorie diets and A/a and A/A genotypes mapped near known diabesity QTLs. These genes may be considered further for candidate genes. On mouse Chromosome 1, Idh1 (29.8 cM) showed differential expression between restricted and unrestricted diets on the A/a background. Diabesity QTLs mapping near Idh1 are Dbsty1 (21 cM),Insq2 (36 cM), Wt10q1 (25 cM), Wt6q1 (27 cM), Obq7 (28.7 cM), and Bw5 (36 cM). At another locus, Pea15 (93.8 cM) showed differential expression between restricted and unrestricted diets on the A/a background and F11r (93.3 cM) showed differential expression between A/a and A/A animals on the restricted diet. Diabesity QTL Obq9 (88.4 cM) maps near Pea15 and F11r.
Wt6q1	Chr1, syntenic		J:91835	The correlation between gene expression and dietary interaction was examined in a population of (BALB/cStCrlfC3H/Nctr x VY/WffC3Hf/Nctr-A(vy)/a)F1 animals. A/a and A/A animals were placed on a 70% (calorie restricted) or 100% (non-restricted) diet andliver mRNA levels were assessed for over 18,000 genes using DNA microarrays. Twenty-eight known genes showing statistically significant differential expression between the 70% and 100% calorie diets and A/a and A/A genotypes mapped near known diabesity QTLs. These genes may be considered further for candidate genes. On mouse Chromosome 1, Idh1 (29.8 cM) showed differential expression between restricted and unrestricted diets on the A/a background. Diabesity QTLs mapping near Idh1 are Dbsty1 (21 cM),Insq2 (36 cM), Wt10q1 (25 cM), Wt6q1 (27 cM), Obq7 (28.7 cM), and Bw5 (36 cM). At another locus, Pea15 (93.8 cM) showed differential expression between restricted and unrestricted diets on the A/a background and F11r (93.3 cM) showed differential expression between A/a and A/A animals on the restricted diet. Diabesity QTL Obq9 (88.4 cM) maps near Pea15 and F11r.
Wt10q1	Chr1, syntenic		J:91835	The correlation between gene expression and dietary interaction was examined in a population of (BALB/cStCrlfC3H/Nctr x VY/WffC3Hf/Nctr-A(vy)/a)F1 animals. A/a and A/A animals were placed on a 70% (calorie restricted) or 100% (non-restricted) diet andliver mRNA levels were assessed for over 18,000 genes using DNA microarrays. Twenty-eight known genes showing statistically significant differential expression between the 70% and 100% calorie diets and A/a and A/A genotypes mapped near known diabesity QTLs. These genes may be considered further for candidate genes. On mouse Chromosome 1, Idh1 (29.8 cM) showed differential expression between restricted and unrestricted diets on the A/a background. Diabesity QTLs mapping near Idh1 are Dbsty1 (21 cM),Insq2 (36 cM), Wt10q1 (25 cM), Wt6q1 (27 cM), Obq7 (28.7 cM), and Bw5 (36 cM). At another locus, Pea15 (93.8 cM) showed differential expression between restricted and unrestricted diets on the A/a background and F11r (93.3 cM) showed differential expression between A/a and A/A animals on the restricted diet. Diabesity QTL Obq9 (88.4 cM) maps near Pea15 and F11r.

*cM position of peak correlated region/marker

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