PLEKHM1
Sign in to saveAlso known as AP162, B2, OPTB6, pleckstrin homology and RUN domain containing M1, OPTA3
Pleckstrin homology domain-containing family M member 1 also known as PLEKHM1 is a protein that in humans is encoded by the PLEKHM1 gene.
Gene data
PLEKHM1- Name
- pleckstrin homology and RUN domain containing M1
- Type
- protein-coding
- Position
- 45,435,900–45,490,986 (−)
- Aliases
- AP162, B2, OPTA3, OPTB6
- Ensembl
- ENSG00000276358
- RefSeq RNA
- NM_001352825.2, NM_014798.3, NR_027774.2, NR_027782.2, XM_006722201.5
- RefSeq protein
- NP_001339754.1, NP_055613.1, XP_006722264.1, XP_011523827.1, XP_011523830.1
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 Ontology
Biological process
Molecular function
via MyGene.info
Gene · Ensembl
pleckstrin homology and RUN domain containing M1
- Symbol
- PLEKHM1
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- Chr HSCHR17_1_CTG5:126,335-181,190
- Strand
- Reverse (−)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Wikidata facts
- Instance of
- gene
Show 7 more facts
- HomoloGene ID
- 8871
- found in taxon
- Homo sapiens
- exact match
- identifiers.org/ncbigene/9842
- chromosome
- human chromosome 17
- genomic start
- 43513266
- genomic end
- 43568115
- cytogenetic location
- 17q21.31
Sources (3)
via Wikidata · CC0
~1 min read
Encyclopedic overview
4 sectionsContents
- Function
- Clinical significance
- References
- Further reading
Pleckstrin homology domain-containing family M member 1 also known as PLEKHM1 is a protein that in humans is encoded by the PLEKHM1 gene.
== Function ==
Excerpted from Wikipedia’s “PLEKHM1” article, available under the CC BY-SA 4.0 licence.