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PLEKHM1 - pleckstrin homology and RUN domain containing M1 Gene

Also Known as B2; AP162; OPTA3; OPTB6

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 9842

About PLEKHM1

Cytogenetic location: 17q21.31 Genomic coordinates (GRCh38): 17:45,434,209-45,490,721 (from NCBI)

This gene has 27 transcripts (splice variants), 1 gene allele, 224 orthologues, 4 paralogues and is associated with 3 phenotypes. Ubiquitous expression in esophagus (RPKM 12.9), bone marrow (RPKM 10.7) and 25 other tissues.

Summary

The protein encoded by this gene is essential for bone resorption, and may play a critical role in vesicular transport in the osteoclast. Mutations in this gene are associated with autosomal recessive osteopetrosis type 6 (OPTB6). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2009]

PLEKHM1 Products (2)

mRNA	Protein	Name
NM_001352825.2	NP_001339754.1	pleckstrin homology domain-containing family M member 1 isoform 2
NM_014798.3	NP_055613.1	pleckstrin homology domain-containing family M member 1 isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	25500191	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in autophagosome-lysosome fusion	IMP IMP: Inferred from mutant phenotype	28325809	GOA
involved in late endosome to lysosome transport	IMP IMP: Inferred from mutant phenotype	28325809	GOA
involved in lysosome localization	IDA IDA: Inferred from direct assay	28325809	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in autolysosome	IDA IDA: Inferred from direct assay	28325809	GOA
located in lysosome	IDA IDA: Inferred from direct assay	28325809	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

PLEKHM1 Protein Structure

RUN

zf-RING_9

0
200
400
600
800
1000
1056 a.a.

Protein Preferred Names	Protein Names
pleckstrin homology domain-containing family M member 1	162 kDa adapter protein

PLEKHM1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	PLEKHM1	Q9Y4G2	VPS39	Homo sapiens	Q96JC1	Anti Tag CoIP	28325809
Intra	PLEKHM1	Q9Y4G2	VPS39	Homo sapiens	Q96JC1	Y2H	28325809
Intra	PLEKHM1	Q9Y4G2	VPS39	Homo sapiens	Q96JC1	Anti Tag CoIP	33452816
Intra	PLEKHM1	Q9Y4G2	RAB7A	Homo sapiens	P51149	Anti Tag CoIP	33452816
Intra	PLEKHM1	Q9Y4G2	RAB7A	Homo sapiens	P51149	Confocal	27291868
Intra	PLEKHM1	Q9Y4G2	RAB7A	Homo sapiens	P51149	Anti Tag CoIP	27291868
Intra	PLEKHM1	Q9Y4G2	RAB7A	Homo sapiens	P51149	Y2H	28325809
Intra	PLEKHM1	Q9Y4G2	VPS41	Homo sapiens	P49754	Anti Tag CoIP	33452816
Intra	PLEKHM1	Q9Y4G2	VPS41	Homo sapiens	P49754	Pull Down	28325809
Intra	PLEKHM1	Q9Y4G2	VPS41	Homo sapiens	P49754	Anti Tag CoIP	28325809
Cross	PLEKHM1	Q9Y4G2	sifA	Salmonella typhimurium	A0A0D6GID3	Anti Tag CoIP	25500191
Cross	PLEKHM1	Q9Y4G2	sifA	Salmonella typhimurium	A0A0D6GID3	Pull Down	25500191
Intra	PLEKHM1	Q9Y4G2	MTOR	Homo sapiens	P42345	Anti Tag CoIP	33452816
Intra	PLEKHM1	Q9Y4G2	ARL8A	Homo sapiens	Q96BM9	Y2H	28325809
Intra	PLEKHM1	Q9Y4G2	GABARAP	Homo sapiens	O95166	Pull Down	25500191
Intra	PLEKHM1	Q9Y4G2	ARL8B	Homo sapiens	Q9NVJ2	Y2H	28325809
Intra	PLEKHM1	Q9Y4G2	ARL8B	Homo sapiens	Q9NVJ2	Pull Down	28325809
Intra	PLEKHM1	Q9Y4G2	ARL8B	Homo sapiens	Q9NVJ2	Anti Tag CoIP	28325809
Cross	PLEKHM1	Q9Y4G2	RAB7A	Canis familiaris	P18067	Anti Tag CoIP	25500191
Cross	PLEKHM1	Q9Y4G2	RAB7A	Canis familiaris	P18067	Confocal	25500191

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Osteopetrosis, Autosomal Recessive 6	OPTB6 Autosomal Recessive Osteopetrosis 6 Autosomal Recessive Osteopetrosis Intermediate Form Osteopetrosis, Autosomal Recessive, Intermediate Form Osteopetrosis Autosomal Recessive 6 Autosomal Recessive Osteopetrosis Type 6 Osteopetrosis Autosomal Recessive Intermediate Form Intermediate Osteopetrosis Autosomal Recessive Intermediate Osteopetrosis Osteopetrosis, Autosomal Recessive, Type 6
Osteopetrosis, Autosomal Dominant 3	OPTA3
Osteopetrosis	Marble Bone Disease Albers-Schonberg Disease Osteopetroses Marble Bones Osteopetrosis And Related Disorders Congenital Osteopetrosis Marble Bone Albers-Schoenberg Disease Albers-Schonberg Osteopetrosis Osteosclerosis Fragilis Ivory Bones
Osteopetrosis, Autosomal Recessive 2	OPTB2 Autosomal Recessive Osteopetrosis 2 Osteopetrosis, Mild Autosomal Recessive Form Osteoclast-Poor Osteopetrosis Osteopetrosis, Osteoclast-Poor Mild Autosomal Recessive Form Osteopetrosis Osteopetrosis Autosomal Recessive 2 Autosomal Recessive Osteopetrosis Type 2 Osteopetrosis Osteoclast-Poor Osteopetrosis, Autosomal Recessive, Type 2
Pycnodysostosis	Pyknodysostosis PKND Pycd Toulouse-Lautrec Syndrome
Retinitis Pigmentosa	RP Rod-Cone Dystrophy Autosomal Recessive Retinitis Pigmentosa Non-Syndromic Retinitis Pigmentosa Pericentral Pigmentary Retinopathy Pigmentary Retinopathy Tapetoretinal Degeneration Rcd Retinitis Pigmentosa Autosomal Recessive ARRP Retinitis Pigmentosa, Autosomal Recessive Retinitis Pigmentosa 1

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS10697	PLEKHM1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	PLEKHM1	MGD	MGI:2443207
Bos taurus	PLEKHM1	VGNC	VGNC:57148
Rattus norvegicus	PLEKHM1	RGD	RGD:1308010
Macaca mulatta	PLEKHM1	VGNC	VGNC:99206
Others	PLEKHM1	NCBI