Gene

impdh1a

ID

ZDB-GENE-040704-15

Name

IMP (inosine 5'-monophosphate) dehydrogenase 1a

Symbol

impdh1a Nomenclature History

Previous Names

zgc:91911

Type

protein_coding_gene

Location

Chr: 18 Mapping Details/Browsers

Description

Predicted to have IMP dehydrogenase activity. Involved in developmental pigmentation and eye development. Predicted to localize to cytoplasm. Human ortholog(s) of this gene implicated in Leber congenital amaurosis 11; retinitis pigmentosa; and retinitis pigmentosa 10. Is expressed in brain; digestive system; heart; muscle; and sensory system. Orthologous to human IMPDH1 (inosine monophosphate dehydrogenase 1).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

12 figures from 4 publications

Cross-Species Comparison

High Throughput Data

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

MGC:91911 (8 images)

Wild Type Expression Summary

Phenotype

All Phenotype Data: 5 figures from 2 publications
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With impdh1a Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
Leber congenital amaurosis 11	Alliance	Leber congenital amaurosis 11	613837
retinitis pigmentosa 10	Alliance	Retinitis pigmentosa 10	180105

Associated With impdh1a Via Experimental Models

No data available

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Conserved_site	IPR015875	IMP dehydrogenase / GMP reductase, conserved site
Domain	IPR000644	CBS domain
Domain	IPR001093	IMP dehydrogenase/GMP reductase
Family	IPR005990	Inosine-5'-monophosphate dehydrogenase
Homologous_superfamily	IPR013785	Aldolase-type TIM barrel

Domain Details Per Protein

Protein	Length	Aldolase-type TIM barrel	CBS domain	IMP dehydrogenase/GMP reductase	IMP dehydrogenase / GMP reductase, conserved site	Inosine-5'-monophosphate dehydrogenase
UniProtKB:B2GRR5 InterPro	544
UniProtKB:A0A8M2B5Y5 InterPro	624
UniProtKB:A0A8M3ART7 InterPro	564
UniProtKB:Q6GMG5 InterPro	544
UniProtKB:A0A8M2B5K3 InterPro	594

Transcripts

Genome Browsers

Type	Name	Annotation Method	Length (nt)	Analysis
mRNA	impdh1a-201 (1) Ensembl	Ensembl	2,691 nt	Select Tool
mRNA	impdh1a-202 (1) Ensembl	Ensembl	260 nt	Select Tool
mRNA	impdh1a-203 (1) Ensembl	Ensembl	784 nt	Select Tool

Interactions and Pathways

No data available

Antibodies

Name	Type	Antigen Genes	Isotype	Host Organism	Assay	Source	Citations
Ab1-impdh2	polyclonal	impdh1a impdh1b impdh2	IgG	Rabbit	IHC	Proteintech	1
Ab1-impdh1a	polyclonal	impdh1a		Rabbit	WB		2
Ab2-impdh1a	polyclonal	impdh1a		Rabbit	IHC WB		2

Plasmids

No data available

Constructs

Marker Relationships

Sequences

Orthology

Comparative Orthology: Alliance
Gene Tree: Ensembl

Citations