ENSG00000225190


Homo sapiens

Features
Gene ID: ENSG00000225190
  
Biological name :PLEKHM1
  
Synonyms : pleckstrin homology and RUN domain containing M1 / PLEKHM1 / Q9Y4G2
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 17
Strand: -1
Band: q21.31
Gene start: 45435900
Gene end: 45490749
  
Corresponding Affymetrix probe sets: 212700_x_at (Human Genome U133 Plus 2.0 Array)   212717_at (Human Genome U133 Plus 2.0 Array)   216200_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000467695
Ensembl peptide - ENSP00000466589
Ensembl peptide - ENSP00000467356
Ensembl peptide - ENSP00000389913
Ensembl peptide - ENSP00000394344
Ensembl peptide - ENSP00000462065
Ensembl peptide - ENSP00000462160
Ensembl peptide - ENSP00000462282
Ensembl peptide - ENSP00000464766
NCBI entrez gene - 9842     See in Manteia.
OMIM - 611466
RefSeq - XM_017025454
RefSeq - NM_014798
RefSeq - XM_006722201
RefSeq - XM_011525523
RefSeq - XM_011525524
RefSeq - XM_011525525
RefSeq - XM_011525526
RefSeq - XM_017025451
RefSeq - XM_017025452
RefSeq - XM_017025453
RefSeq Peptide - NP_055613
swissprot - J3KS30
swissprot - K7EII8
swissprot - K7EMP2
swissprot - K7EPF2
swissprot - K7EQ68
swissprot - J3KRL8
swissprot - J3KRU0
swissprot - Q9Y4G2
Ensembl - ENSG00000225190
  
Related genetic diseases (OMIM): 611497 - Osteopetrosis, autosomal recessive 6, 611497
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 plekhm1ENSDARG00000099954Danio rerio
 PLEKHM1ENSGALG00000000201Gallus gallus
 Q7TSI1ENSMUSG00000034247Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Q6ZWE6 / PLEKHM3 / pleckstrin homology domain containing M3ENSG0000017838519
RUBCN / Q92622 / RUN and cysteine rich domain containing beclin 1 interacting proteinENSG0000014501615
Q9H714 / RUBCNL / RUN and cysteine rich domain containing beclin 1 interacting protein likeENSG0000010244514
DEF8 / Q6ZN54 / differentially expressed in FDCP 8 homologENSG0000014099513


Protein motifs (from Interpro)
Interpro ID Name
 IPR001849  Pleckstrin homology domain
 IPR002219  Protein kinase C-like, phorbol ester/diacylglycerol-binding domain
 IPR004012  RUN domain
 IPR011993  PH-like domain superfamily
 IPR025258  Putative zinc-RING and/or ribbon
 IPR037213  RUN domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006914 autophagy IEA
 biological_processGO:0015031 protein transport IEA
 biological_processGO:0032418 lysosome localization IEA
 biological_processGO:0035556 intracellular signal transduction IEA
 biological_processGO:0045780 positive regulation of bone resorption IEA
 biological_processGO:1900029 positive regulation of ruffle assembly IEA
 cellular_componentGO:0005622 intracellular IEA
 cellular_componentGO:0005730 nucleolus IDA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005764 lysosome IEA
 cellular_componentGO:0005765 lysosomal membrane IEA
 cellular_componentGO:0005768 endosome IEA
 cellular_componentGO:0010008 endosome membrane IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0043231 intracellular membrane-bounded organelle IDA
 molecular_functionGO:0046872 metal ion binding IEA


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0004975 Erlenmeyer flask deformity of the femurs 
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 HP:0011002 Osteopetrosis 
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 HP:0100959 Dense metaphyseal bands "Dense radiopaque bands of bone which are thicker than the adjacent diaphyseal cortex and may form at the metaphysis of growing bones." [HPO:sdoelken]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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