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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 Plekhm1-Related Autosomal Recessive 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). Involved in vesicular transport in the osteoclast (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). 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

Regulatory Elements for PLEKHM1 Gene

Enhancers for PLEKHM1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH17H045220 1.8 FANTOM5 ENCODE dbSUPER 17.3 +264.5 264453 12 HDGF PKNOX1 ARID4B SIN3A SLC30A9 ZNF766 ZNF143 FOS DEK SP5 FMNL1 PLEKHM1 ENSG00000233175 LRRC37A4P ENSG00000233483 ARHGAP27 SLC25A39 SPATA32 KANSL1-AS1 MAP3K14
GH17H045305 2 FANTOM5 Ensembl ENCODE dbSUPER 8.4 +177.0 177049 17 MLX ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 SP3 NFYC SSRP1 FMNL1 SPATA32 LINC02210 ARHGAP27 GPATCH8 LRRC37A4P PLEKHM1 ENSG00000264070 MAPK8IP1P1 KANSL1-AS1
GH17H045404 1.8 FANTOM5 Ensembl ENCODE dbSUPER 6.8 +80.0 79978 13 HDGF PKNOX1 FOXA2 MLX ARID4B DMAP1 GLIS2 ATF7 MIER2 PPARG LINC02210 LRRC37A4P ARHGAP27 FMNL1 SPATA32 LRRC37A PLEKHM1 ENSG00000224505 GC17M045407
GH17H045428 1.6 FANTOM5 ENCODE dbSUPER 7.2 +62.2 62157 1 HDGF PKNOX1 ARID4B ZNF2 SLC30A9 GLIS2 ZNF143 ATF7 RUNX3 SP5 ARHGAP27 PLEKHM1 FMNL1 GC17M045407
GH17H045582 1.8 FANTOM5 ENCODE dbSUPER 5.6 -93.8 -93765 4 HDGF PKNOX1 ARID4B SIN3A FEZF1 DMAP1 YBX1 ZNF2 ZNF143 ZNF207 LINC02210 LRRC37A4P KANSL1-AS1 LRRC37A2 PLEKHM1 ACBD4 FMNL1 PIR53158 DND1P1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PLEKHM1 on UCSC Golden Path with GeneCards custom track

Promoters for PLEKHM1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000094944 -20 1601 HDGF PKNOX1 ATF1 ARID4B SIN3A GLI4 ZNF121 ELK1 ATF7 SP3

Genomic Location for PLEKHM1 Gene

Chromosome:
17
Start:
45,434,247 bp from pter
End:
45,490,780 bp from pter
Size:
56,534 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:
    • In colon carcinoma and breast carcinoma cells, it interacts with sialyl-lex-positive protein (PubMed:12820725). Interacts 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).
    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

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for PLEKHM1 (PLEKHM1)

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). Involved in vesicular transport in the osteoclast (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). 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

CRISPR Products

miRNA for PLEKHM1 Gene

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for PLEKHM1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 MINT IID STRING

Gene Ontology (GO) - Biological Process for PLEKHM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0006914 autophagy IEA --
GO:0015031 protein transport IEA --
GO:0032418 lysosome localization ISS --
GO:0035556 intracellular signal transduction 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
  • 1,2-Dimyristoyl-rac-glycerol
  • DAG(14:0/14:0)
  • DAG(28:0)
  • DG(14:0/14:0)
  • DG(28:0)
Diglycerides Group B
  • 1-Palmitoleoyl-2-arachidonyl-sn-glycerol
  • DAG(16:1/20:0)
  • DAG(16:1n7/20:0)
  • DAG(16:1w7/20:0)
  • DAG(36:1)
Diglycerides Group C
  • 1-Myristoyl-3-behenoyl-sn-glycerol
  • 1-Tetradecanoyl-3-docosanoyl-sn-glycerol
  • DAG(14:0/0:0/22:0)
  • DAG(36:0)
  • DG(36:0)
Diglycerides Group D
  • 1,2-Didocosahexaenoyl-rac-glycerol
  • DAG(22:6/22:6)
  • DAG(22:6n3/22:6n3)
  • DAG(22:6w3/22:6w3)
  • DAG(44:12)
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:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for PLEKHM1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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, PaxDb, 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
Organs:
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

Primer Products

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 33 34
  • 99.56 (n)
cow
(Bos Taurus)
Mammalia PLEKHM1 33 34
  • 84.58 (n)
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 33 34
  • 68.79 (n)
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 33 34
  • 57.12 (n)
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)

Paralogs for PLEKHM1 Gene

Paralogs for PLEKHM1 Gene

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

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 Sequence Context AA Info Type
rs786205055 Pathogenic 45,477,899(-) CACAA(A/G)TGAGA intron-variant, upstream-variant-2KB, splice-donor-variant, utr-variant-5-prime
rs1057518595 Uncertain significance 45,475,139(-) CCTGG(A/G)CACAG nc-transcript-variant, downstream-variant-500B, reference, missense, utr-variant-5-prime
rs1000076071 -- 45,470,330(+) TCTTA(G/T)ATGTG intron-variant
rs1000217170 -- 45,441,969(+) GGGCT(A/G)GAAGA intron-variant
rs1000295396 -- 45,489,850(+) AAGAG(A/T)TGCGG intron-variant, upstream-variant-2KB

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)

Relevant External Links 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

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

Disorder Aliases PubMed IDs
osteopetrosis, autosomal recessive 6
  • autosomal recessive osteopetrosis 6
plekhm1-related autosomal recessive osteopetrosis
  • osteopetrosis, autosomal recessive 6
osteopetrosis
  • albers-schonberg osteopetrosis
dandy-walker syndrome
  • atresia of foramina of magendie and luschka
middle cerebral artery infarction
  • infarction middle cerebral artery
- 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.

Relevant External Links for PLEKHM1

Genetic Association Database (GAD)
PLEKHM1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 60
  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 60
  3. PLEKHM1/DEF8/RAB7 complex regulates lysosome positioning and bone homeostasis. (PMID: 27777970) Fujiwara T … Zhao H (JCI insight 2016) 2 3 60
  4. PLEKHM1 regulates Salmonella-containing vacuole biogenesis and infection. (PMID: 25500191) McEwan DG … Dikic I (Cell host & microbe 2015) 3 4 60
  5. PLEKHM1 regulates autophagosome-lysosome fusion through HOPS complex and LC3/GABARAP proteins. (PMID: 25498145) McEwan DG … Dikic I (Molecular cell 2015) 3 4 60

Products for PLEKHM1 Gene

Sources for PLEKHM1 Gene

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