Homo sapiens Gene: PLEKHM1
Summary
InnateDB Gene IDBG-306131.4
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol PLEKHM1
Gene Name pleckstrin homology domain containing, family M (with RUN domain) member 1
Synonyms AP162; B2; OPTB6;
Species Homo sapiens
Ensembl Gene ENSG00000225190
Encoded Proteins
pleckstrin homology domain containing, family M (with RUN domain) member 1
pleckstrin homology domain containing, family M (with RUN domain) member 1
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 17:45435900-45490749
Strand Reverse strand
Band q21.31
Transcripts
ENST00000430334 ENSP00000389913
ENST00000446609 ENSP00000394344
ENST00000591580 ENSP00000467695
ENST00000582035
ENST00000586562
ENST00000580205
ENST00000579197 ENSP00000462282
ENST00000583150
ENST00000580404
ENST00000584420 ENSP00000462065
ENST00000579131
ENST00000581448 ENSP00000462160
ENST00000585506
ENST00000582119
ENST00000586084 ENSP00000464766
ENST00000581932
ENST00000589780 ENSP00000467356
ENST00000590991 ENSP00000466589
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 11 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated
Total 11 [view]
Protein-Protein 11 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 1 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
GO:0046872 metal ion binding
Biological Process
GO:0035556 intracellular signal transduction
Cellular Component
GO:0005737 cytoplasm
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene
RefSeq NM_014798 XM_006722201 XM_006722202 XM_006725632 XM_006725633
HUGO
OMIM
CCDS CCDS32671
HPRD 11439
IMGT
EMBL
GenPept
RNA Seq Atlas