InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: PLEKHM1

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.

Experimentally validated
Total	11 [view]
Protein-Protein	11 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	1 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005515	protein binding
GO:0046872	metal ion binding

Biological Process

GO:0035556

intracellular signal transduction

Cellular Component

GO:0005737

cytoplasm

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

PFAM

PF00169
PF00130
PF02759

PRINTS

PIRSF

SMART

SM00233
SM00109
SM00593

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

Q9Y4G2