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Aliases for PLEKHM1 Gene

Aliases for PLEKHM1 Gene

  • Pleckstrin Homology And RUN Domain Containing M1 2 3 5
  • Pleckstrin Homology Domain Containing, Family M (With RUN Domain) Member 1 2 3
  • PH Domain-Containing Family M Member 1 3 4
  • 162 KDa Adapter Protein 3 4
  • AP162 3 4
  • Pleckstrin Homology Domain-Containing Family M Member 1 3
  • KIAA0356 4
  • OPTB6 3
  • B2 3

External Ids for PLEKHM1 Gene

Previous GeneCards Identifiers for PLEKHM1 Gene

  • GC17M043989
  • GC17M040869
  • GC17M043514
  • GC17M043528
  • GC17M043540

Summaries for PLEKHM1 Gene

Entrez Gene Summary for PLEKHM1 Gene

  • 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]

GeneCards Summary for PLEKHM1 Gene

PLEKHM1 (Pleckstrin Homology And RUN Domain Containing M1) is a Protein Coding gene. Diseases associated with PLEKHM1 include Osteopetrosis, Autosomal Recessive 6 and Osteopetrosis. An important paralog of this gene is PLEKHM3.

UniProtKB/Swiss-Prot for PLEKHM1 Gene

  • Proposed to act as a multivalent adapter protein that regulates Rab7-dependent and HOPS complex-dependent fusion events in the endolysosomal system and couples autophagic and the endocytic trafficking pathways. Required for late stages of endolysosomal maturation, facilitating both endocytosis-mediated degradation of growth factor receptors and autophagosome clearance. Seems to be involved in the terminal maturation of autophagosomes and to mediate autophagosome-lysosome fusion (PubMed:25498145). Positively regulates lysosome peripheral distribution and ruffled border formation in osteoclasts (By similarity). May be involved in negative regulation of endocytic transport from early endosome to late endosome/lysosome implicating its association with Rab7 (PubMed:20943950). May have a role in sialyl-lex-mediated transduction of apoptotic signals (PubMed:12820725). Involved in bone resorption (By similarity). In case of infection contributes to Salmonella typhimurium pathogenesis by supporting the integrity of the Salmonella-containing vacuole (SCV) probably in concert with the HOPS complex and Rab7 (PubMed:25500191).

Gene Wiki entry for PLEKHM1 Gene

Additional gene information for PLEKHM1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PLEKHM1 Gene

Genomics for PLEKHM1 Gene

GeneHancer (GH) Regulatory Elements for PLEKHM1 Gene

Promoters and enhancers for PLEKHM1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH17J045489 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE dbSUPER 650.7 +0.1 76 1.8 HDGF PKNOX1 ATF1 ARID4B SIN3A GLI4 ZNF48 YY1 ZNF121 POLR2B PLEKHM1 LINC02210 LRRC37A4P GC17M045480
GH17J046189 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 18.6 -702.8 -702793 7.6 FEZF1 DMAP1 YBX1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 KANSL1 KANSL1-AS1 LINC02210 ENSG00000262372 ARL17A ARL17B LRRC37A4P RPS7P11 RPS2P47 LRRC37A2
GH17J045305 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 16.6 +177.0 177049 17.2 MLX ZFP64 FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 ZNF143 SP3 MAP3K14 FMNL1 SPATA32 PLEKHM1 ENSG00000262372 KANSL1 LINC02210 ARHGAP27 EFTUD2 ENSG00000224505
GH17J045220 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 17.3 +264.5 264453 12.5 HDGF PKNOX1 SMAD1 ARID4B SIN3A IRF4 SLC30A9 POLR2B ZNF766 ZNF143 FMNL1 PLEKHM1 ENSG00000233175 LRRC37A4P ENSG00000233483 ARHGAP27 SLC25A39 SPATA32 KANSL1-AS1 MAP3K14
GH17J045582 Promoter/Enhancer 2.1 FANTOM5 Ensembl ENCODE dbSUPER 13.9 -93.8 -93764 4.3 HDGF PKNOX1 CLOCK ARID4B SIN3A FEZF1 DMAP1 YBX1 ZNF2 YY1 DND1P1 PIR53158 LINC02210 LRRC37A4P KANSL1-AS1 KANSL1 ENSG00000262372 ARL17A ARL17B LRRC37A2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PLEKHM1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PLEKHM1 gene promoter:
  • GATA-2
  • NF-1/L
  • NF-1
  • AML1a
  • NRF-2
  • YY1
  • Max
  • c-Myc
  • deltaCREB
  • CREB

Genomic Locations for PLEKHM1 Gene

Genomic Locations for PLEKHM1 Gene
chr17:45,434,247-45,490,780
(GRCh38/hg38)
Size:
56,534 bases
Orientation:
Minus strand
chr17:43,513,266-43,568,146
(GRCh37/hg19)
Size:
54,881 bases
Orientation:
Minus strand

Genomic View for PLEKHM1 Gene

Genes around PLEKHM1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PLEKHM1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PLEKHM1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PLEKHM1 Gene

Proteins for PLEKHM1 Gene

  • Protein details for PLEKHM1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y4G2-PKHM1_HUMAN
    Recommended name:
    Pleckstrin homology domain-containing family M member 1
    Protein Accession:
    Q9Y4G2
    Secondary Accessions:
    • Q6P2R5
    • Q8TEL9
    • Q9NPP5
    • Q9NYA0

    Protein attributes for PLEKHM1 Gene

    Size:
    1056 amino acids
    Molecular mass:
    117443 Da
    Quaternary structure:
    • Interacts (via N- and C-terminus) with RAB7A (GTP-bound form) (PubMed:20943950, PubMed:25500191). Interacts with VPS41, VPS11 and VPS39; indicative for an association with the HOPS complex; the interaction with VPS41 seems to require RAB7A (PubMed:25500191, PubMed:25498145). Interacts with GABARAP, GABARAPL, GABARAPL2, MAP1LC3A, MAP1LC3B and MAP1LC3C (PubMed:25498145). Interacts with PAFAH1B (By similarity). Interacts with Salmonella typhimurium sifA (PubMed:25500191). Interacts (via N- and C-terminus) with NDEL1 (By similarity). Interacts (via C-terminus) with MAP3K7 (By similarity). Interacts (via N- and C-terminus) with FAM98A (By similarity). Interacts (via C-terminus) with DEF8; this interaction is weak but increased in a RAB7A-dependent manner (By similarity). In colon carcinoma and breast carcinoma cells, it interacts with sialyl-lex-positive protein (PubMed:12820725).
    Miscellaneous:
    • Sialyl-lex is a carcinoma associated antigen.
    SequenceCaution:
    • Sequence=BAA20813.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=CAB91652.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for PLEKHM1 Gene

neXtProt entry for PLEKHM1 Gene

Post-translational modifications for PLEKHM1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for PLEKHM1 Gene

Domains & Families for PLEKHM1 Gene

Gene Families for PLEKHM1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for PLEKHM1 Gene

Graphical View of Domain Structure for InterPro Entry

Q9Y4G2

UniProtKB/Swiss-Prot:

PKHM1_HUMAN :
  • The LIR (LC3-interacting region) motif mediates the interaction with ATG8 family proteins GABARAP, GABARAPL, GABARAPL2, and LC3A/B/C.
Domain:
  • The LIR (LC3-interacting region) motif mediates the interaction with ATG8 family proteins GABARAP, GABARAPL, GABARAPL2, and LC3A/B/C.
genes like me logo Genes that share domains with PLEKHM1: view

Function for PLEKHM1 Gene

Molecular function for PLEKHM1 Gene

UniProtKB/Swiss-Prot Function:
Proposed to act as a multivalent adapter protein that regulates Rab7-dependent and HOPS complex-dependent fusion events in the endolysosomal system and couples autophagic and the endocytic trafficking pathways. Required for late stages of endolysosomal maturation, facilitating both endocytosis-mediated degradation of growth factor receptors and autophagosome clearance. Seems to be involved in the terminal maturation of autophagosomes and to mediate autophagosome-lysosome fusion (PubMed:25498145). Positively regulates lysosome peripheral distribution and ruffled border formation in osteoclasts (By similarity). May be involved in negative regulation of endocytic transport from early endosome to late endosome/lysosome implicating its association with Rab7 (PubMed:20943950). May have a role in sialyl-lex-mediated transduction of apoptotic signals (PubMed:12820725). Involved in bone resorption (By similarity). In case of infection contributes to Salmonella typhimurium pathogenesis by supporting the integrity of the Salmonella-containing vacuole (SCV) probably in concert with the HOPS complex and Rab7 (PubMed:25500191).

Phenotypes From GWAS Catalog for PLEKHM1 Gene

Gene Ontology (GO) - Molecular Function for PLEKHM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with PLEKHM1: view
genes like me logo Genes that share phenotypes with PLEKHM1: view

Human Phenotype Ontology for PLEKHM1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PLEKHM1 Gene

MGI Knock Outs for PLEKHM1:

Animal Model Products

  • Taconic Biosciences Mouse Models for PLEKHM1

miRNA for PLEKHM1 Gene

miRTarBase miRNAs that target PLEKHM1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for PLEKHM1 Gene

Localization for PLEKHM1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PLEKHM1 Gene

Cytoplasm. Endosome membrane. Lysosome. Lysosome membrane. Note=Localizes to the external membrane of autolysosomes (PubMed:25498145). In case of infection colocalizes with Salmonella typhimurium sifA in proximity of Salmonella-containing vacuole (SCV) (PubMed:25500191). {ECO:0000269 PubMed:25498145, ECO:0000269 PubMed:25500191}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PLEKHM1 gene
Compartment Confidence
nucleus 5
lysosome 4
endosome 4
cytosol 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Vesicles (3)
  • Nucleoli (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PLEKHM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005730 nucleolus IDA --
GO:0005737 cytoplasm IEA --
GO:0005764 lysosome IEA --
GO:0005765 lysosomal membrane IEA --
GO:0005768 endosome IEA --
genes like me logo Genes that share ontologies with PLEKHM1: view

Pathways & Interactions for PLEKHM1 Gene

SuperPathways for PLEKHM1 Gene

No Data Available

Interacting Proteins for PLEKHM1 Gene

STRING Interaction Network Preview (showing 2 interactants - click image to see details)
http://version10.5.string-db.org/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000389913%0d%0a9606.ENSP00000415183%0d%0a9606.ENSP00000343204%0d%0a
Selected Interacting proteins: Q9Y4G2-PKHM1_HUMAN ENSP00000389913 for PLEKHM1 Gene via IID STRING MINT

Gene Ontology (GO) - Biological Process for PLEKHM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006914 autophagy IEA --
GO:0015031 protein transport IEA --
GO:0032418 lysosome localization IEA,ISS --
GO:0035556 intracellular signal transduction IEA --
GO:0045780 positive regulation of bone resorption ISS,IEA --
genes like me logo Genes that share ontologies with PLEKHM1: view

No data available for Pathways by source and SIGNOR curated interactions for PLEKHM1 Gene

Drugs & Compounds for PLEKHM1 Gene

(4) Additional Compounds for PLEKHM1 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Diglycerides Group A
  • 1-Myristoyl-2-eicosadienoyl-sn-glycerol
  • DAG(14:0/20:2)
  • DAG(14:0/20:2N6)
  • DAG(14:0/20:2W6)
  • DAG(34:2)
Diglycerides Group B
  • 1-(9Z-Octadecenoyl)-2-hexadecanoyl-sn-glycerol
  • 1-O-Oleoyl-2-O-palmitoyl-sn-glycerol
  • DG (18:1(9Z)/16:0/0:0)
  • DG(18:1/16:0)
  • Diglyceride
Diglycerides Group C
  • (2R)-2-Hydroxy-3-(pentadecanoyloxy)propyl (11Z,14Z)-icosa-11,14-dienoic acid
  • DAG(15:0/0:0/20:2w6)
  • Diacylglycerol(15:0/0:0/20:2w6)
  • Diacylglycerol(15:0/0:0/20:2)
  • DAG(15:0/0:0/20:2n6)
Diglycerides Group D
  • 1,2-Di-(4Z,7Z,10Z,13Z,16Z,19Z-docosahexaenoyl)-sn-glycerol
  • 1,2-Didocosahexaenoyl-sn-glycerol
  • DAG(22:6/22:6)
  • DAG(22:6N3/22:6N3)
  • DAG(22:6OMEGA3/22:6OMEGA3)
genes like me logo Genes that share compounds with PLEKHM1: view

Transcripts for PLEKHM1 Gene

Unigene Clusters for PLEKHM1 Gene

Pleckstrin homology domain containing, family M (with RUN domain) member 1:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for PLEKHM1 Gene

No ASD Table

Relevant External Links for PLEKHM1 Gene

GeneLoc Exon Structure for
PLEKHM1
ECgene alternative splicing isoforms for
PLEKHM1

Expression for PLEKHM1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PLEKHM1 Gene

mRNA differential expression in normal tissues according to GTEx for PLEKHM1 Gene

This gene is overexpressed in Whole Blood (x4.6).

Protein differential expression in normal tissues from HIPED for PLEKHM1 Gene

This gene is overexpressed in Spleen (48.8) and Cerebrospinal fluid (10.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PLEKHM1 Gene



Protein tissue co-expression partners for PLEKHM1 Gene

NURSA nuclear receptor signaling pathways regulating expression of PLEKHM1 Gene:

PLEKHM1

SOURCE GeneReport for Unigene cluster for PLEKHM1 Gene:

Hs.514242

mRNA Expression by UniProt/SwissProt for PLEKHM1 Gene:

Q9Y4G2-PKHM1_HUMAN
Tissue specificity: Expressed in placenta, liver, prostate, thymus, spleen, ovary, colon, colon carcinoma and peripheral blood lymphocytes (PBL). Weakly expressed in brain, lung, kidney, and testis. No expression in heart, skeletal muscle, pancreas and small intestine. Predominantly expressed in the breast carcinoma cell line MCF-7.

Evidence on tissue expression from TISSUES for PLEKHM1 Gene

  • Nervous system(4.8)
  • Spleen(4.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for PLEKHM1 Gene

Germ Layers:
  • mesoderm
Systems:
  • skeleton
Regions:
Head and neck:
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • neck
  • skull
Thorax:
  • chest wall
  • clavicle
  • rib
  • rib cage
  • scapula
  • sternum
Pelvis:
  • pelvis
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with PLEKHM1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for PLEKHM1 Gene

Orthologs for PLEKHM1 Gene

This gene was present in the common ancestor of animals.

Orthologs for PLEKHM1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PLEKHM1 34 33
  • 99.56 (n)
OneToOne
cow
(Bos Taurus)
Mammalia PLEKHM1 34 33
  • 84.58 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Plekhm1 16 34 33
  • 83.98 (n)
rat
(Rattus norvegicus)
Mammalia Plekhm1 33
  • 83.78 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia PLEKHM1 34
  • 79 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PLEKHM1 34
  • 71 (a)
OneToOne
chicken
(Gallus gallus)
Aves PLEKHM1 34 33
  • 68.79 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PLEKHM1 34
  • 56 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia plekhm1 33
  • 55.4 (n)
zebrafish
(Danio rerio)
Actinopterygii plekhm1 34 33
  • 57.12 (n)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.12729 33
worm
(Caenorhabditis elegans)
Secernentea Y56A3A.16 34
  • 19 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea CSA.897 34
  • 37 (a)
OneToMany
Species where no ortholog for PLEKHM1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • dog (Canis familiaris)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PLEKHM1 Gene

ENSEMBL:
Gene Tree for PLEKHM1 (if available)
TreeFam:
Gene Tree for PLEKHM1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PLEKHM1: view image

Paralogs for PLEKHM1 Gene

Paralogs for PLEKHM1 Gene

(2) SIMAP similar genes for PLEKHM1 Gene using alignment to 9 proteins:

  • PKHM1_HUMAN
  • F8W648_HUMAN
  • J3KRL8_HUMAN
  • J3KRU0_HUMAN
  • J3KS30_HUMAN
  • K7EII8_HUMAN
  • K7EMP2_HUMAN
  • K7EPF2_HUMAN
  • K7EQ68_HUMAN

Pseudogenes.org Pseudogenes for PLEKHM1 Gene

genes like me logo Genes that share paralogs with PLEKHM1: view

Variants for PLEKHM1 Gene

Sequence variations from dbSNP and Humsavar for PLEKHM1 Gene

SNP ID Clin Chr 17 pos Variation AA Info Type
rs786205055 pathogenic, Osteopetrosis autosomal recessive 6 45,477,899(-) C/T 5_prime_UTR_variant, genic_upstream_transcript_variant, intron_variant, splice_donor_variant, upstream_transcript_variant
rs1057518595 uncertain-significance, not specified 45,475,139(-) C/T 5_prime_UTR_variant, coding_sequence_variant, genic_upstream_transcript_variant, missense_variant, non_coding_transcript_variant
rs372927279 uncertain-significance, not specified 45,437,870(-) G/T coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs1000076071 -- 45,470,330(-) G/T genic_upstream_transcript_variant, intron_variant
rs1000217170 -- 45,441,969(-) G/A intron_variant

Structural Variations from Database of Genomic Variants (DGV) for PLEKHM1 Gene

Variant ID Type Subtype PubMed ID
dgv123e55 CNV loss 17911159
dgv124e55 CNV loss 17911159
dgv1472n106 CNV deletion 24896259
esv2715974 CNV deletion 23290073
esv2758691 CNV gain+loss 17122850
esv3582677 CNV loss 25503493
nsv1070407 CNV deletion 25765185
nsv1070831 CNV deletion 25765185
nsv1146669 OTHER inversion 26484159
nsv428342 CNV gain 18775914
nsv509659 CNV insertion 20534489
nsv511056 OTHER complex 20534489
nsv9562 CNV gain 18304495
nsv960115 CNV duplication 23825009
nsv960116 CNV duplication 23825009

Variation tolerance for PLEKHM1 Gene

Residual Variation Intolerance Score: 32.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.08; 38.04% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PLEKHM1 Gene

Human Gene Mutation Database (HGMD)
PLEKHM1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PLEKHM1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PLEKHM1 Gene

Disorders for PLEKHM1 Gene

MalaCards: The human disease database

(5) MalaCards diseases for PLEKHM1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
osteopetrosis, autosomal recessive 6
  • optb6
osteopetrosis
  • albers-schonberg disease
dandy-walker syndrome
  • dws
middle cerebral artery infarction
  • infarction middle cerebral artery
endosteal hyperostosis, autosomal dominant
  • hyperostosis corticalis generalisata, benign form of worth, with torus palatinus
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

PKHM1_HUMAN
  • Osteopetrosis, autosomal recessive 6 (OPTB6) [MIM:611497]: A rare genetic disease characterized by abnormally dense bone, due to defective resorption of immature bone. Osteopetrosis occurs in two forms: a severe autosomal recessive form occurring in utero, infancy, or childhood, and a benign autosomal dominant form occurring in adolescence or adulthood. Recessive osteopetrosis commonly manifests in early infancy with macrocephaly, feeding difficulties, evolving blindness and deafness, bone marrow failure, severe anemia, and hepatosplenomegaly. Deafness and blindness are generally thought to represent effects of pressure on nerves. {ECO:0000269 PubMed:17404618}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for PLEKHM1

genes like me logo Genes that share disorders with PLEKHM1: view

No data available for Genatlas for PLEKHM1 Gene

Publications for PLEKHM1 Gene

  1. Novel adapter protein AP162 connects a sialyl-Le(x)-positive mucin with an apoptotic signal transduction pathway. (PMID: 12820725) Hartel-Schenk S … Hanski C (Glycoconjugate journal 2001) 2 3 4 22 58
  2. Prediction of the coding sequences of unidentified human genes. VII. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. (PMID: 9205841) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 1997) 2 3 4 58
  3. PLEKHM1/DEF8/RAB7 complex regulates lysosome positioning and bone homeostasis. (PMID: 27777970) Fujiwara T … Zhao H (JCI insight 2016) 2 3 58
  4. PLEKHM1 regulates Salmonella-containing vacuole biogenesis and infection. (PMID: 25500191) McEwan DG … Dikic I (Cell host & microbe 2015) 3 4 58
  5. PLEKHM1 regulates autophagosome-lysosome fusion through HOPS complex and LC3/GABARAP proteins. (PMID: 25498145) McEwan DG … Dikic I (Molecular cell 2015) 3 4 58

Products for PLEKHM1 Gene