2. Gene
  3. PLEKHM1 - pleckstrin homology and RUN domain containing M1 Gene

PLEKHM1 - pleckstrin homology and RUN domain containing M1 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as B2; AP162; OPTA3; OPTB6

Gene ID: 9842 | Gene type: protein coding

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 Reference Source
enables protein binding IPI
IPI: Inferred from physical interaction
25500191 GOA
Biological Process GO Annotation Evidence Reference 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 Reference 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

RUN: RUN domain (50 - 181)

zf-RING_9

zf-RING_9: Putative zinc-RING and/or ribbon (846 - 1049)

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  • 1056 a.a.
Protein Preferred Names Protein Names

pleckstrin homology domain-containing family M member 1

162 kDa adapter protein

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
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS10697 PLEKHM1 Human Pre-designed siRNA Set A Pre-designed Sets / 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