Gene

plekhm1

ID

ZDB-GENE-030131-2752

Name

pleckstrin homology domain containing, family M (with RUN domain) member 1

Symbol

plekhm1 Nomenclature History

Previous Names

wu:fc17c08
wu:fc23c01
wu:fc29h10
zgc:158281

Type

protein_coding_gene

Location

Chr: 12 Mapping Details/Browsers

Description

Human ortholog(s) of this gene implicated in autosomal recessive osteopetrosis 6 and osteopetrosis. Orthologous to human PLEKHM1 (pleckstrin homology and RUN domain containing M1).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

1 figure from Yan et al., 2017

Cross-Species Comparison

High Throughput Data

GEO (1)

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

No data available

Wild Type Expression Summary

Phenotype

All Phenotype Data: No data available
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With plekhm1 Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
autosomal recessive osteopetrosis 6	Alliance	?Osteopetrosis, autosomal recessive 6	611497
		Osteopetrosis, autosomal dominant 3	618107

Associated With plekhm1 Via Experimental Models

No data available

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Domain	IPR001849	Pleckstrin homology domain
Domain	IPR004012	RUN domain
Domain	IPR025258	Rubicon Homology Domain
Domain	IPR042827	PLEKHM1, PH domain
Domain	IPR047326	PLEKHM1, RUN domain
Family	IPR051366	Differentially Expressed in FDCP 8 Homolog
Homologous_superfamily	IPR011993	PH-like domain superfamily
Homologous_superfamily	IPR037213	RUN domain superfamily