Homo sapiens Protein: PLEKHM1 | |||||||||||||||||||||||
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Summary | |||||||||||||||||||||||
InnateDB Protein | IDBP-379998.4 | ||||||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||||||
Gene Symbol | PLEKHM1 | ||||||||||||||||||||||
Protein Name | pleckstrin homology domain containing, family M (with RUN domain) member 1 | ||||||||||||||||||||||
Synonyms | AP162; B2; OPTB6; | ||||||||||||||||||||||
Species | Homo sapiens | ||||||||||||||||||||||
Ensembl Protein | ENSP00000389913 | ||||||||||||||||||||||
InnateDB Gene | IDBG-306131 (PLEKHM1) | ||||||||||||||||||||||
Protein Structure | |||||||||||||||||||||||
UniProt Annotation | |||||||||||||||||||||||
Function | Involved in vesicular transport in the osteoclast (By similarity). May have a role in sialyl-lex-mediated transduction of apoptotic signals. {ECO:0000250, ECO:0000269PubMed:12820725}. | ||||||||||||||||||||||
Subcellular Localization | Cytoplasm {ECO:0000305}. | ||||||||||||||||||||||
Disease Associations | 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:0000269PubMed:17404618}. Note=The disease is caused by mutations affecting the gene represented in this entry. | ||||||||||||||||||||||
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. {ECO:0000269PubMed:12820725, ECO:0000269PubMed:9205841}. | ||||||||||||||||||||||
Comments | |||||||||||||||||||||||
Interactions | |||||||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 11 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
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Gene Ontology | |||||||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Protein Structure and Domains | |||||||||||||||||||||||
PDB ID | |||||||||||||||||||||||
InterPro |
IPR001849
Pleckstrin homology domain IPR002219 Protein kinase C-like, phorbol ester/diacylglycerol-binding domain IPR004012 RUN IPR011011 Zinc finger, FYVE/PHD-type |
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PFAM |
PF00169
PF00130 PF02759 |
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PRINTS | |||||||||||||||||||||||
PIRSF | |||||||||||||||||||||||
SMART |
SM00233
SM00109 SM00593 |
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TIGRFAMs | |||||||||||||||||||||||
Post-translational Modifications | |||||||||||||||||||||||
Modification | |||||||||||||||||||||||
Cross-References | |||||||||||||||||||||||
SwissProt | Q9Y4G2 | ||||||||||||||||||||||
PhosphoSite | PhosphoSite-Q9Y4G2 | ||||||||||||||||||||||
TrEMBL | K7EII8 | ||||||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||||||
Entrez Gene | 9842 | ||||||||||||||||||||||
UniGene | |||||||||||||||||||||||
RefSeq | NP_055613 | ||||||||||||||||||||||
HUGO | HGNC:29017 | ||||||||||||||||||||||
OMIM | 611466 | ||||||||||||||||||||||
CCDS | CCDS32671 | ||||||||||||||||||||||
HPRD | 11439 | ||||||||||||||||||||||
IMGT | |||||||||||||||||||||||
EMBL | AB002354 AC091132 AJ002220 AK074103 AL389948 BC064361 | ||||||||||||||||||||||
GenPept | AAH64361 BAA20813 BAB84929 CAB91652 CAB97526 | ||||||||||||||||||||||