Type |
Details |
Score |
GXD Expression |
Probe: |
MGI:6369367 |
Assay Type: |
Western blot |
Annotation Date: |
2019-11-04 |
Strength: |
Absent |
Sex: |
Not Specified |
Emaps: |
EMAPS:1672826 |
|
Stage: |
TS26 |
Assay Id: |
MGI:6369448 |
Age: |
embryonic day 18.5 |
Image: |
2 |
|
Specimen Label: |
-/- |
Detected: |
false |
Specimen Num: |
14 |
|
•
•
•
•
•
|
Publication |
First Author: |
Yeo JC |
Year: |
2015 |
Journal: |
Mol Biol Cell |
Title: |
Rab31 and APPL2 enhance FcγR-mediated phagocytosis through PI3K/Akt signaling in macrophages. |
Volume: |
26 |
Issue: |
5 |
Pages: |
952-65 |
|
•
•
•
•
•
|
Publication |
First Author: |
Tu Q |
Year: |
2011 |
Journal: |
J Biol Chem |
Title: |
Adiponectin inhibits osteoclastogenesis and bone resorption via APPL1-mediated suppression of Akt1. |
Volume: |
286 |
Issue: |
14 |
Pages: |
12542-53 |
|
•
•
•
•
•
|
Publication |
First Author: |
Fu X |
Year: |
2011 |
Journal: |
Mol Biol Cell |
Title: |
Retrolinkin cooperates with endophilin A1 to mediate BDNF-TrkB early endocytic trafficking and signaling from early endosomes. |
Volume: |
22 |
Issue: |
19 |
Pages: |
3684-98 |
|
•
•
•
•
•
|
Publication |
First Author: |
Ko MS |
Year: |
2000 |
Journal: |
Development |
Title: |
Large-scale cDNA analysis reveals phased gene expression patterns during preimplantation mouse development. |
Volume: |
127 |
Issue: |
8 |
Pages: |
1737-49 |
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2002 |
|
Title: |
Mouse Genome Informatics Computational Sequence to Gene Associations for FANTOM2 data |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Stryke D |
Year: |
2003 |
Journal: |
Nucleic Acids Res |
Title: |
BayGenomics: a resource of insertional mutations in mouse embryonic stem cells. |
Volume: |
31 |
Issue: |
1 |
Pages: |
278-81 |
|
•
•
•
•
•
|
Publication |
First Author: |
Lennon G |
Year: |
1999 |
Journal: |
Database Download |
Title: |
WashU-HHMI Mouse EST Project |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Wellcome Trust Sanger Institute |
Year: |
2009 |
Journal: |
MGI Direct Data Submission |
Title: |
Alleles produced for the KOMP project by the Wellcome Trust Sanger Institute |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Cyagen Biosciences Inc. |
Year: |
2022 |
|
Title: |
Cyagen Biosciences Website. |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
GOA curators |
Year: |
2016 |
|
Title: |
Automatic transfer of experimentally verified manual GO annotation data to orthologs using Ensembl Compara |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
UniProt-GOA |
Year: |
2012 |
|
Title: |
Gene Ontology annotation based on UniProtKB/Swiss-Prot Subcellular Location vocabulary mapping, accompanied by conservative changes to GO terms applied by UniProt |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
The Gene Ontology Consortium |
Year: |
2014 |
|
Title: |
Automated transfer of experimentally-verified manual GO annotation data to mouse-rat orthologs |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2003 |
|
Title: |
MGI Sequence Curation Reference |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2002 |
|
Title: |
Chromosome assignment of mouse genes using the Mouse Genome Sequencing Consortium (MGSC) assembly and the ENSEMBL Database |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Carninci P |
Year: |
2005 |
Journal: |
Science |
Title: |
The transcriptional landscape of the mammalian genome. |
Volume: |
309 |
Issue: |
5740 |
Pages: |
1559-63 |
|
•
•
•
•
•
|
Publication |
First Author: |
Kawai J |
Year: |
2001 |
Journal: |
Nature |
Title: |
Functional annotation of a full-length mouse cDNA collection. |
Volume: |
409 |
Issue: |
6821 |
Pages: |
685-90 |
|
•
•
•
•
•
|
Publication |
First Author: |
Zambrowicz BP |
Year: |
2003 |
Journal: |
Proc Natl Acad Sci U S A |
Title: |
Wnk1 kinase deficiency lowers blood pressure in mice: a gene-trap screen to identify potential targets for therapeutic intervention. |
Volume: |
100 |
Issue: |
24 |
Pages: |
14109-14 |
|
•
•
•
•
•
|
Publication |
First Author: |
MGD Nomenclature Committee |
Year: |
1995 |
|
Title: |
Nomenclature Committee Use |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics (MGI) and National Center for Biotechnology Information (NCBI) |
Year: |
2008 |
Journal: |
Database Download |
Title: |
Mouse Gene Trap Data Load from dbGSS |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Skarnes WC |
Year: |
2011 |
Journal: |
Nature |
Title: |
A conditional knockout resource for the genome-wide study of mouse gene function. |
Volume: |
474 |
Issue: |
7351 |
Pages: |
337-42 |
|
•
•
•
•
•
|
Publication |
First Author: |
GemPharmatech |
Year: |
2020 |
|
Title: |
GemPharmatech Website. |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
UniProt-GOA |
Year: |
2012 |
|
Title: |
Gene Ontology annotation based on UniProtKB/Swiss-Prot keyword mapping |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
AgBase, BHF-UCL, Parkinson's UK-UCL, dictyBase, HGNC, Roslin Institute, FlyBase and UniProtKB curators |
Year: |
2011 |
|
Title: |
Manual transfer of experimentally-verified manual GO annotation data to orthologs by curator judgment of sequence similarity |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
The Jackson Laboratory Mouse Radiation Hybrid Database |
Year: |
2004 |
Journal: |
Database Release |
Title: |
Mouse T31 Radiation Hybrid Data Load |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Okazaki Y |
Year: |
2002 |
Journal: |
Nature |
Title: |
Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs. |
Volume: |
420 |
Issue: |
6915 |
Pages: |
563-73 |
|
•
•
•
•
•
|
Publication |
First Author: |
The Gene Ontology Consortium |
Year: |
2010 |
|
Title: |
Automated transfer of experimentally-verified manual GO annotation data to mouse-human orthologs |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Diez-Roux G |
Year: |
2011 |
Journal: |
PLoS Biol |
Title: |
A high-resolution anatomical atlas of the transcriptome in the mouse embryo. |
Volume: |
9 |
Issue: |
1 |
Pages: |
e1000582 |
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2010 |
Journal: |
Database Download |
Title: |
Mouse Microarray Data Integration in Mouse Genome Informatics, the Affymetrix GeneChip Mouse Genome U74 Array Platform (A, B, C v2). |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2002 |
|
Title: |
Mouse Genome Informatics Computational Sequence to Gene Associations |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Marc Feuermann, Huaiyu Mi, Pascale Gaudet, Dustin Ebert, Anushya Muruganujan, Paul Thomas |
Year: |
2010 |
|
Title: |
Annotation inferences using phylogenetic trees |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Database and National Center for Biotechnology Information |
Year: |
2000 |
Journal: |
Database Release |
Title: |
Entrez Gene Load |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics Group |
Year: |
2003 |
Journal: |
Database Procedure |
Title: |
Automatic Encodes (AutoE) Reference |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics (MGI) and The National Center for Biotechnology Information (NCBI) |
Year: |
2010 |
Journal: |
Database Download |
Title: |
Consensus CDS project |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2005 |
|
Title: |
Obtaining and loading genome assembly coordinates from NCBI annotations |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Bairoch A |
Year: |
1999 |
Journal: |
Database Release |
Title: |
SWISS-PROT Annotated protein sequence database |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Allen Institute for Brain Science |
Year: |
2004 |
Journal: |
Allen Institute |
Title: |
Allen Brain Atlas: mouse riboprobes |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2009 |
Journal: |
Database Download |
Title: |
Mouse Microarray Data Integration in Mouse Genome Informatics, the Affymetrix GeneChip Mouse Genome 430 2.0 Array Platform |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2009 |
Journal: |
Database Download |
Title: |
Mouse Microarray Data Integration in Mouse Genome Informatics, the Affymetrix GeneChip Mouse Gene 1.0 ST Array Platform |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2005 |
|
Title: |
Obtaining and Loading Genome Assembly Coordinates from Ensembl Annotations |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics |
Year: |
2010 |
Journal: |
Database Release |
Title: |
Protein Ontology Association Load. |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Cheng KK |
Year: |
2007 |
Journal: |
Diabetes |
Title: |
Adiponectin-induced endothelial nitric oxide synthase activation and nitric oxide production are mediated by APPL1 in endothelial cells. |
Volume: |
56 |
Issue: |
5 |
Pages: |
1387-94 |
|
•
•
•
•
•
|
Publication |
First Author: |
Zhu G |
Year: |
2007 |
Journal: |
EMBO J |
Title: |
Structure of the APPL1 BAR-PH domain and characterization of its interaction with Rab5. |
Volume: |
26 |
Issue: |
14 |
Pages: |
3484-93 |
|
•
•
•
•
•
|
Interaction Experiment |
Description: |
Serine 707 of APPL1 is Critical for the Synaptic NMDA Receptor-Mediated Akt Phosphorylation Signaling Pathway. |
|
•
•
•
•
•
|
DO Term |
|
•
•
•
•
•
|
Publication |
First Author: |
Wang J |
Year: |
2016 |
Journal: |
Neurosci Bull |
Title: |
Serine 707 of APPL1 is Critical for the Synaptic NMDA Receptor-Mediated Akt Phosphorylation Signaling Pathway. |
Volume: |
32 |
Issue: |
4 |
Pages: |
323-30 |
|
•
•
•
•
•
|
Publication |
First Author: |
Bohdanowicz M |
Year: |
2012 |
Journal: |
Mol Biol Cell |
Title: |
Recruitment of OCRL and Inpp5B to phagosomes by Rab5 and APPL1 depletes phosphoinositides and attenuates Akt signaling. |
Volume: |
23 |
Issue: |
1 |
Pages: |
176-87 |
|
•
•
•
•
•
|
Publication |
First Author: |
Li J |
Year: |
2007 |
Journal: |
Structure |
Title: |
Crystal structures of the BAR-PH and PTB domains of human APPL1. |
Volume: |
15 |
Issue: |
5 |
Pages: |
525-33 |
|
•
•
•
•
•
|
Publication |
First Author: |
Deepa SS |
Year: |
2009 |
Journal: |
Am J Physiol Endocrinol Metab |
Title: |
APPL1: role in adiponectin signaling and beyond. |
Volume: |
296 |
Issue: |
1 |
Pages: |
E22-36 |
|
•
•
•
•
•
|
Protein Domain |
Type: |
Domain |
Description: |
Adaptor protein, Phosphotyrosine interaction, PH domain and Leucine zipper containing (APPL) proteins are effectors of the small GTPase Rab5 that function in endosome-mediated signaling []. They contain BAR, pleckstrin homology (PH) and phosphotyrosine binding (PTB) domains. They form homo- and hetero-oligomers that are mediated by their BAR domains []. Vertebrates contain two APPL proteins, APPL1 and APPL2. APPL1 interacts with diverse receptors (e.g. NGF receptor TrkA, FSHR, adiponectin receptors) and signaling proteins (e.g. Akt, PI3K), and may function as an adaptor linked to many distinct signaling pathways []. This entry represents the BAR domain of APPL1. |
|
•
•
•
•
•
|
Protein Domain |
Type: |
Domain |
Description: |
OCRL1 hydrolyzes phosphatidylinositol 4,5-bisphosphate (PtIns(4,5)P2) and the signaling molecule phosphatidylinositol 1,4,5-trisphosphate (PtIns(1,4,5)P3), and thereby modulates cellular signaling events []. OCRL1 resides on vesicular structures throughout the endosomal system and the Golgi complex, and is also present at the plasma membrane in membrane ruffles and at late-stage endocytic clathrin-coated pits. It binds clathrin, clathrin adaptors, several GTPases, and the endocytic proteins APPL1 and Ses1/2 []. Mutations in the OCRL1 gene cause Lowe Syndrome, leading to cataracts, mental retardation and renal failure []. Mutations in OCRL can also give rise to a milder pathology, Dent disease 2, which is characterised by renal Fanconi syndrome in the absence of extrarenal pathologies [].OCRL1 shares ~45% sequence identity with INPP5B and has the same domain organization. However, a loop in the Rho GAP domain contains a second clathrin box which is absent in INPP5B. INPP5B shares most interacting partners with OCRL, except for clathrin and the endocytic clathrin adaptor AP-2 []. OCRL1 contains a PH domain, a 5-phosphatase domain, an ASH domain and a Rho-GAP domain. The RhoGAP domain lacks the catalytic arginine and is catalytically inactive. However, the RhoGAP domain of OCRL interacts with Rac and Cdc42, but only the Cdc42 interaction is GTP-dependent. The RhoGAP domain also interacts with three endocytic proteins containing the F&H motif: APPL1, Ses1 and Ses2. OCRL1 interacts with Rab GTPase (Rab8) through its ASH domain []. This entry represents the inositol polyphosphate 5-phosphatase (INPP5c) domain of OCRL1/INPP5B. |
|
•
•
•
•
•
|
Publication |
First Author: |
Swan LE |
Year: |
2010 |
Journal: |
Proc Natl Acad Sci U S A |
Title: |
Two closely related endocytic proteins that share a common OCRL-binding motif with APPL1. |
Volume: |
107 |
Issue: |
8 |
Pages: |
3511-6 |
|
•
•
•
•
•
|
Publication |
First Author: |
Cheng KK |
Year: |
2014 |
Journal: |
Diabetes |
Title: |
The adaptor protein APPL2 inhibits insulin-stimulated glucose uptake by interacting with TBC1D1 in skeletal muscle. |
Volume: |
63 |
Issue: |
11 |
Pages: |
3748-58 |
|
•
•
•
•
•
|
Publication |
First Author: |
Perini ED |
Year: |
2014 |
Journal: |
Traffic |
Title: |
Mammalian CORVET is required for fusion and conversion of distinct early endosome subpopulations. |
Volume: |
15 |
Issue: |
12 |
Pages: |
1366-89 |
|
•
•
•
•
•
|
Publication |
First Author: |
Wang B |
Year: |
2020 |
Journal: |
Proc Natl Acad Sci U S A |
Title: |
The adaptor protein APPL2 controls glucose-stimulated insulin secretion via F-actin remodeling in pancreatic β-cells. |
Volume: |
117 |
Issue: |
45 |
Pages: |
28307-28315 |
|
•
•
•
•
•
|
Publication |
First Author: |
Wang Y |
Year: |
2012 |
Journal: |
Arterioscler Thromb Vasc Biol |
Title: |
Essential role of caveolin-3 in adiponectin signalsome formation and adiponectin cardioprotection. |
Volume: |
32 |
Issue: |
4 |
Pages: |
934-42 |
|
•
•
•
•
•
|
Publication |
First Author: |
Ding X |
Year: |
2017 |
Journal: |
Genetics |
Title: |
Survival of BRCA2-Deficient Cells Is Promoted by GIPC3, a Novel Genetic Interactor of BRCA2. |
Volume: |
207 |
Issue: |
4 |
Pages: |
1335-1345 |
|
•
•
•
•
•
|
Publication |
First Author: |
McGowan SE |
Year: |
2020 |
Journal: |
Am J Physiol Lung Cell Mol Physiol |
Title: |
Neuropilin-1 directs PDGFRα-entry into lung fibroblasts and signaling from very early endosomes. |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Pirruccello M |
Year: |
2012 |
Journal: |
Trends Biochem Sci |
Title: |
Inositol 5-phosphatases: insights from the Lowe syndrome protein OCRL. |
Volume: |
37 |
Issue: |
4 |
Pages: |
134-43 |
|
•
•
•
•
•
|
Publication |
First Author: |
Grieve AG |
Year: |
2011 |
Journal: |
PLoS One |
Title: |
Lowe Syndrome protein OCRL1 supports maturation of polarized epithelial cells. |
Volume: |
6 |
Issue: |
8 |
Pages: |
e24044 |
|
•
•
•
•
•
|
Publication |
First Author: |
Vicinanza M |
Year: |
2011 |
Journal: |
EMBO J |
Title: |
OCRL controls trafficking through early endosomes via PtdIns4,5P₂-dependent regulation of endosomal actin. |
Volume: |
30 |
Issue: |
24 |
Pages: |
4970-85 |
|
•
•
•
•
•
|
Publication |
First Author: |
De Matteis MA |
Year: |
2017 |
Journal: |
Nat Rev Nephrol |
Title: |
The 5-phosphatase OCRL in Lowe syndrome and Dent disease 2. |
Volume: |
13 |
Issue: |
8 |
Pages: |
455-470 |
|
•
•
•
•
•
|
Protein Domain |
Type: |
Domain |
Description: |
OCRL1 hydrolyzes phosphatidylinositol 4,5-bisphosphate (PtIns(4,5)P2) and the signaling molecule phosphatidylinositol 1,4,5-trisphosphate (PtIns(1,4,5)P3), and thereby modulates cellular signaling events []. OCRL1 resides on vesicular structures throughout the endosomal system and the Golgi complex, and is also present at the plasma membrane in membrane ruffles and at late-stage endocytic clathrin-coated pits. It binds clathrin, clathrin adaptors, several GTPases, and the endocytic proteins APPL1 and Ses1/2 []. Mutations in the OCRL1 gene cause Lowe Syndrome, leading to cataracts, mental retardation and renal failure []. Mutations in OCRL can also give rise to a milder pathology, Dent disease 2, which is characterised by renal Fanconi syndrome in the absence of extrarenal pathologies [].OCRL1 shares ~45% sequence identity with INPP5B (not included in this entry) and has the same domain organization. However, a loop in the Rho GAP domain contains a second clathrin box which is absent in INPP5B. INPP5B shares most interacting partners with OCRL, except for clathrin and the endocytic clathrin adaptor AP-2 []. OCRL1 contains a PH domain, a 5-phosphatase domain, an ASH domain and a Rho-GAP domain. The RhoGAP domain lacks the catalytic arginine and is catalytically inactive. However, the RhoGAP domain of OCRL interacts with Rac and Cdc42, but only the Cdc42 interaction is GTP-dependent. The RhoGAP domain also interacts with three endocytic proteins containing the F&H motif: APPL1, Ses1 and Ses2. OCRL1 interacts with Rab GTPase (Rab8) through its ASH domain []. This entry represents the PH domain of OCRL1 []. The PH domain connects to the 5-phosphatase domain, which has a Dnase I-like fold []. |
|
•
•
•
•
•
|
Publication |
First Author: |
Katoh M |
Year: |
2013 |
Journal: |
Exp Mol Med |
Title: |
Functional proteomics, human genetics and cancer biology of GIPC family members. |
Volume: |
45 |
|
Pages: |
e26 |
|
•
•
•
•
•
|
Publication |
First Author: |
Fang X |
Year: |
2009 |
Journal: |
Diabetologia |
Title: |
Leptin prevents the metabolic effects of adiponectin in L6 myotubes. |
Volume: |
52 |
Issue: |
10 |
Pages: |
2190-200 |
|
•
•
•
•
•
|
Publication |
First Author: |
Mukherjee S |
Year: |
2023 |
Journal: |
Mol Metab |
Title: |
Ube4A maintains metabolic homeostasis and facilitates insulin signaling in vivo. |
Volume: |
75 |
|
Pages: |
101767 |
|
•
•
•
•
•
|
Publication |
First Author: |
Mao Y |
Year: |
2009 |
Journal: |
EMBO J |
Title: |
A PH domain within OCRL bridges clathrin-mediated membrane trafficking to phosphoinositide metabolism. |
Volume: |
28 |
Issue: |
13 |
Pages: |
1831-42 |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
511
|
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
707
|
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
900
|
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
993
|
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
995
|
Fragment?: |
true |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
757
|
Fragment?: |
true |
|
•
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