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pleckstrin homology and RUN domain containing M1

Summary

Gene Symbol

PLEKHM1

Organism

Homo sapiens (human)

External Links

NCBI Gene

9842

PubChem

9842

Alliance of Genome Resources

HGNC:29017

Annotation

Keyword

3D-structure
Autophagy
Cytoplasmic vesicle
Disease variant
Endosome
Lysosome
Membrane
Osteopetrosis
Phosphoprotein
Protein transport
Reference proteome
Repeat
Zinc-finger

Proteins

Displaying 1 entry
UniProt	Protein Name
Q9Y4G2	162 kDa adapter protein

Annotation information from UniProt.

Gene Ontology (GO)

Displaying entries **1 - 5** of 7 in total

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GO Term	Evidence Code	PMID
protein transport	IEA
lysosome localization	ISS
lysosome localization	IDA	28325809
positive regulation of bone resorption	ISS
autophagosome-lysosome fusion	IMP	28325809

GO Hierarchy

biological process

cellular process [inference]

cellular localization [inference]

intracellular transport [inference]

vacuolar transport [inference]

lysosomal transport [inference]

late endosome to lysosome transport

cellular macromolecule localization [inference]

protein localization [inference]

establishment of protein localization [inference]

protein transport

cellular component organization or biogenesis [inference]

cellular component organization [inference]

organelle organization [inference]

vesicle organization [inference]

vesicle fusion [inference]

autophagosome-lysosome fusion

organelle fusion [inference]

organelle membrane fusion [inference]

vesicle fusion [inference]

autophagosome-lysosome fusion

membrane organization [inference]

membrane fusion [inference]

organelle membrane fusion [inference]

vesicle fusion [inference]

autophagosome-lysosome fusion

localization [inference]

macromolecule localization [inference]

cellular macromolecule localization [inference]

protein localization [inference]

establishment of protein localization [inference]

protein transport

establishment of localization [inference]

transport [inference]

intracellular transport [inference]

vacuolar transport [inference]

lysosomal transport [inference]

late endosome to lysosome transport

organic substance transport [inference]

protein transport

nitrogen compound transport [inference]

protein transport

establishment of protein localization [inference]

protein transport

establishment of localization in cell [inference]

intracellular transport [inference]

vacuolar transport [inference]

lysosomal transport [inference]

late endosome to lysosome transport

organelle localization [inference]

vacuolar localization [inference]

lysosome localization

cellular localization [inference]

intracellular transport [inference]

vacuolar transport [inference]

lysosomal transport [inference]

late endosome to lysosome transport

cellular macromolecule localization [inference]

protein localization [inference]

establishment of protein localization [inference]

protein transport

biological regulation [inference]

regulation of biological process [inference]

positive regulation of biological process [inference]

positive regulation of cellular process [inference]

positive regulation of cellular component biogenesis [inference]

positive regulation of plasma membrane bounded cell projection assembly [inference]

positive regulation of ruffle assembly

positive regulation of cellular component organization [inference]

positive regulation of cell projection organization [inference]

positive regulation of plasma membrane bounded cell projection assembly [inference]

positive regulation of ruffle assembly

positive regulation of multicellular organismal process [inference]

positive regulation of bone resorption

regulation of cellular process [inference]

regulation of cellular component biogenesis [inference]

positive regulation of cellular component biogenesis [inference]

positive regulation of plasma membrane bounded cell projection assembly [inference]

positive regulation of ruffle assembly

regulation of cell projection assembly [inference]

regulation of plasma membrane bounded cell projection assembly [inference]

positive regulation of plasma membrane bounded cell projection assembly [inference]

positive regulation of ruffle assembly

regulation of ruffle assembly [inference]

positive regulation of ruffle assembly

positive regulation of cellular process [inference]

positive regulation of cellular component biogenesis [inference]

positive regulation of plasma membrane bounded cell projection assembly [inference]

positive regulation of ruffle assembly

positive regulation of cellular component organization [inference]

positive regulation of cell projection organization [inference]

positive regulation of plasma membrane bounded cell projection assembly [inference]

positive regulation of ruffle assembly

regulation of cellular component organization [inference]

regulation of cell projection organization [inference]

positive regulation of cell projection organization [inference]

positive regulation of plasma membrane bounded cell projection assembly [inference]

positive regulation of ruffle assembly

regulation of cell projection assembly [inference]

regulation of plasma membrane bounded cell projection assembly [inference]

positive regulation of plasma membrane bounded cell projection assembly [inference]

positive regulation of ruffle assembly

regulation of ruffle assembly [inference]

positive regulation of ruffle assembly

regulation of plasma membrane bounded cell projection organization [inference]

regulation of plasma membrane bounded cell projection assembly [inference]

positive regulation of plasma membrane bounded cell projection assembly [inference]

positive regulation of ruffle assembly

regulation of ruffle assembly [inference]

positive regulation of ruffle assembly

positive regulation of cellular component organization [inference]

positive regulation of cell projection organization [inference]

positive regulation of plasma membrane bounded cell projection assembly [inference]

positive regulation of ruffle assembly

regulation of multicellular organismal process [inference]

regulation of tissue remodeling [inference]

regulation of bone remodeling [inference]

regulation of bone resorption [inference]

positive regulation of bone resorption

positive regulation of multicellular organismal process [inference]

positive regulation of bone resorption

Displaying entries **1 - 5** of 7 in total

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GO Term	Evidence Code	PMID
nucleoplasm	IDA
nucleolus	IDA
lysosome	IDA	28325809
late endosome membrane	IEA
intracellular membrane-bounded organelle	IDA

GO Hierarchy

cellular component

cellular anatomical entity [inference]

nucleoplasm

membrane [inference]

organelle membrane [inference]

vesicle membrane [inference]

cytoplasmic vesicle membrane [inference]

endosome membrane [inference]

late endosome membrane

bounding membrane of organelle [inference]

vacuolar membrane [inference]

autophagosome membrane [inference]

autolysosome membrane

lytic vacuole membrane [inference]

lysosomal membrane [inference]

autolysosome membrane

endosome membrane [inference]

late endosome membrane

organelle [inference]

membrane-bounded organelle [inference]

intracellular membrane-bounded organelle

vacuole [inference]

lytic vacuole [inference]

lysosome

secondary lysosome [inference]

autolysosome

autophagosome [inference]

autolysosome

non-membrane-bounded organelle [inference]

intracellular non-membrane-bounded organelle [inference]

nucleolus

intracellular organelle [inference]

intracellular membrane-bounded organelle

vacuole [inference]

lytic vacuole [inference]

lysosome

secondary lysosome [inference]

autolysosome

autophagosome [inference]

autolysosome

intracellular non-membrane-bounded organelle [inference]

nucleolus

Displaying **all 3** entries
GO Term	Evidence Code	PMID
protein binding	IPI	25500191 27291868 28325809 33452816
zinc ion binding	IEA
metal ion binding

GO Hierarchy

molecular function

binding [inference]

protein binding

ion binding [inference]

cation binding [inference]

metal ion binding

transition metal ion binding [inference]

zinc ion binding

Gene Ontology information from NCBI Gene and UniProt.

OrthoDB (Group)

Group level

Eukaryota

Group Name

pleckstrin homology domain-containing family M member 1

Functional Category

I: Lipid transport and metabolism
Q: Secondary metabolites biosynthesis, transport and catabolism
T: Signal transduction mechanisms

Displaying 1 entry
Gene Ontology
metal ion binding

Displaying **all 6** entries
InterPro
PH-like domain superfamily
PLEKHM1, RUN domain
Pleckstrin homology domain
RUN domain superfamily
RUN domain
Rubicon Homology Domain

Disease

Disease Ontology

Displaying **all 2** entries
DO ID	Disease Name	Source
DOID:0110945	autosomal recessive osteopetrosis 6	Alliance of Genome Resources
DOID:13533	osteopetrosis	Alliance of Genome Resources

Ortholog

Displaying entries **1 - 10** of 66 in total

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Species	Gene ID	Alliance of Genome Resources	Orthologous MAtrix
Xenopus laevis	9842	Xenbase:XB-GENE-17342526
Rattus norvegicus	303584		RATNO01995
Mus musculus	353047		MOUSE05645
Pan troglodytes	454754		PANTR13678
Bos taurus	523424		BOVIN13556
Danio rerio	564048		DANRE03685
Macaca mulatta	716464		MACMU15025
Monodelphis domestica	100024491		MONDO11838
Equus caballus	100050008		HORSE04765
Pongo abelii	100174604		PONAB11286