Go Annotations as Summary Text (Tabular View) (GO Graph)

GO curators for mouse genes have assigned the following annotations to the gene product of Mtmr14. (This text reflects annotations as of Wednesday, January 23, 2013.)

---

Summary from NCBI RefSeq

[Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a myotubularin-related protein. The encoded protein is a phosphoinositide phosphatase that specifically dephosphorylates phosphatidylinositol 3,5-biphosphate and phosphatidylinositol 3-phosphate. Mutations in this gene are correlated with autosomal dominant centronuclear myopathy. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 18.[provided by RefSeq, Apr 2010]

---

Summary text based on GO annotations supported by experimental evidence in other organisms

• From comparative sequence analysis (see table for details), MGI curators have determined that the gene product of Mtmr14:
  • performs the following molecular functions:
    • phosphatidylinositol-3-phosphatase activity
  • is located in the following cellular components:
    • perinuclear region of cytoplasm
    • ruffle

---

Summary text based on GO annotations supported by structural data

• Mtmr14 encodes a protein or proteins that contain the following InterPro domains: Protein-tyrosine phosphatase, active site, indicating that the gene product:
  • participates in the following biological processes:
    • dephosphorylation
  • performs the following molecular functions:
    • phosphatase activity
    • protein tyrosine phosphatase activity

---

Summary text for additional MGI annotations

• Automated translation to GO terms of SwissProt keywords that describe Mtmr14 indicates that it:
  • performs the following molecular functions:
    • hydrolase activity
  • is located in the following cellular components:
    • cytoplasm

---

---

Gene Ontology Evidence Code Abbreviations:

EXP Inferred from experiment

IC Inferred by curator

IDA Inferred from direct assay

IEA Inferred from electronic annotation

IGI Inferred from genetic interaction

IMP Inferred from mutant phenotype

IPI Inferred from physical interaction

ISS Inferred from sequence or structural similarity

ISO Inferred from sequence orthology

ISA Inferred from sequence alignment

ISM Inferred from sequence model

NAS Non-traceable author statement

ND No biological data available

RCA Reviewed computational analysis

TAS Traceable author statement

---