Gene

Plekhm1

Species
Drosophila melanogaster
Symbol
Plekhm1
Name
Pleckstrin homology and RUN domain containing M1
Synonyms
  • CG6613
  • Plekhm1
Biotype
protein coding gene
Automated Description
Enables small GTPase binding activity. Involved in secretory granule-lysosome fusion. Is expressed in organism. Human ortholog(s) of this gene implicated in autosomal recessive osteopetrosis 6 and osteopetrosis. Orthologous to several human genes including PLEKHM1 (pleckstrin homology and RUN domain containing M1).
FB Description
Not Available
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR12326
Stringency:
Additional filters to further constrain the results:
Species Gene symbol Count Best Best reverse
Method
Ensembl ComparaHGNCHieranoidInParanoidOMAOrthoFinderOrthoInspectorPANTHERPhylomeDBSonicParanoidXenbaseZFIN
Homo sapiensPLEKHM18 of 9YesYes   
Homo sapiensPLEKHM34 of 9NoYes   
Mus musculusPlekhm18 of 9YesYes   
Mus musculusPlekhm34 of 9NoYes   
Rattus norvegicusPlekhm18 of 9YesYes   
Rattus norvegicusPlekhm34 of 9NoYes   
Xenopus tropicalisplekhm34 of 9YesYes   
Danio rerioplekhm18 of 10YesYes  
Danio rerioplekhm34 of 10NoYes  
Caenorhabditis eleganscup-148 of 9YesYes   
Links to orthology data in JBrowse by filter level: Stringent,  Moderate,  No filter,  Best and Best Reverse

Paralogy

Gene symbolRank Alignment Length (aa) Similarity %Identity %Method Count
Method
Ensembl ComparaHGNCInParanoidOMAOrthoFinderOrthoInspectorPANTHERPhylomeDBSonicParanoidSGD
Rubicon186936203 of 8  
DEF8224953344 of 8  

Function - GO Annotations

Pathways

No data available

Phenotypes

Primary Sources
None
Other Sources
No data available

Disease Associations

Cases where the expected disease association was NOT found
Must provide at least one subject
Cell color indicative of annotation volume
Species
Gene
Association
Disease Qualifier
Disease
Evidence
Source
Based On
References
Homo sapiensPLEKHM1
is implicated inautosomal recessive osteopetrosis 6
  • IAGP
    Homo sapiensPLEKHM1
    is implicated inosteopetrosis
    • IAGP
      Mus musculusPlekhm1
      is implicated inautosomal recessive osteopetrosis 6
      • TAS
        Showing 1 - 3 of 3 rows
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        Alleles and Variants

        Genome location
        Assembly version
        R6
        Viewer Help
        22.1035M22.1040M22.1045M22.1050M22.1055M
        Variant Types and ConsequencesOnly variants associated to alleles are shown in the graphics above. See all variants in JBrowse.
        Allele/Variant Symbol
        Allele Synonyms
        Category
        Variant
        Variant type
        Molecular consequence
        Has Disease Annotations
        Has Phenotype Annotations
        Plekhm1d18
        • Plekhm1[d18]
        • plekhm1[d18]
        allele
        Plekhm1d14
        • plekhm1[d14]
        • Plekhm1[d14]
        allele
        NT_033778.4:g.22104451T>Cvariant
        SNP
        • synonymous variant
        NT_033778.4:g.22104728G>Avariant
        SNP
        • missense variant
        NT_033778.4:g.22105803T>Cvariant
        SNP
        • 3 prime UTR variant
        NT_033778.4:g.22104001C>Tvariant
        SNP
        • intron variant
        NT_033778.4:g.22104169G>Avariant
        SNP
        • synonymous variant
        NT_033778.4:g.22103494C>Tvariant
        SNP
        • synonymous variant
        NT_033778.4:g.22103656A>Gvariant
        SNP
        • synonymous variant
        NT_033778.4:g.22103794G>Tvariant
        SNP
        • missense variant
        Showing 1 - 10 of 130 rows
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        Transgenic Alleles

        Species
        (carrying the transgene)
        Allele symbol
        Transgenic construct
        Expressed components
        Knock-down targets
        Regulatory regions
        Has Disease Annotations
        Has Phenotype Annotations
        Drosophila melanogasterPlekhm1GD11978
        • UASt
        Drosophila melanogasterPlekhm1HMJ23550
        • UAS
        Drosophila melanogasterPlekhm1HMS23559
        • UAS
        Drosophila melanogasterPlekhm1KK100096
        • UASt
        Drosophila melanogasterPlekhm1U6.NIG.sgRNA
        Drosophila melanogasterPlekhm1UAS.ORF.Tag:HA
        • UASt
        Drosophila melanogasterPlekhm1UAS.ORF
        • UASt
        Showing 1 - 7 of 7 rows
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        Models

        No data available

        Sequence Feature Viewer

        Genome location
        Assembly version
        R6
        Viewer Help
        22.1035M22.1040M22.1045M22.1050M22.1055MPlekhm1-RA (Plekhm1)

        Sequence Details

        Loading...

        Expression

        Primary Sources
        Other Sources
        all annotationsall anatomical structuresalimentary part of gastrointestinal systemchemosensory systemcirculatory systemendocrine systemexocrine systemhemolymphoid systemhepatobiliary systemintegumental systemmechanosensory systemmusculoskeletal systemnervous systemrenal systemreproductive systemrespiratory systemsensory systemvestibulo-auditory systemvisual systemendodermectodermmesodermmesenchymeadipose tissueappendageentire extraembryonic componentimaginal precursorpharyngeal archotherall stagesembryo stagepost embryonic, pre-adultpost-juvenile adult stageall cellular componentsextracellular regionplasma membranesynapsecell junctioncell projectioncytoplasmic vesicleendosomevacuolegolgi apparatusendoplasmic reticulumcytosolmitochondrionnucleuschromosomecytoskeletonprotein-containing complexother locations
        Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

        Molecular Interactions

        2 interactor genes based on 5 annotations
        Plekhm1 molecule type
        Interactor gene
        Interactor species
        Interactor molecule type
        Detection methods
        Source
        Reference
        protein
        DEF8Drosophila melanogaster
        protein
        • experimental knowledge based
        PMID:22036573
        protein
        Rab7Drosophila melanogaster
        protein
        • pull down
        PMID:25453831
        protein
        Rab7Drosophila melanogaster
        protein
        • pull down
        PMID:25453831
        protein
        Rab7Drosophila melanogaster
        protein
        • pull down
        PMID:25453831
        protein
        Rab7Drosophila melanogaster
        protein
        • two hybrid
        PMID:28483915
        Showing 1 - 5 of 5 rows
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        Genetic Interactions

        No data available