Type |
Details |
Score |
Publication |
First Author: |
Araki K |
Year: |
1999 |
Journal: |
Cell Mol Biol (Noisy-le-grand) |
Title: |
Exchangeable gene trap using the Cre/mutated lox system. |
Volume: |
45 |
Issue: |
5 |
Pages: |
737-50 |
|
•
•
•
•
•
|
Publication |
First Author: |
Taniwaki T |
Year: |
2005 |
Journal: |
Dev Growth Differ |
Title: |
Characterization of an exchangeable gene trap using pU-17 carrying a stop codon-beta geo cassette. |
Volume: |
47 |
Issue: |
3 |
Pages: |
163-72 |
|
•
•
•
•
•
|
Publication |
First Author: |
Tang F |
Year: |
2011 |
Journal: |
PLoS One |
Title: |
Deterministic and stochastic allele specific gene expression in single mouse blastomeres. |
Volume: |
6 |
Issue: |
6 |
Pages: |
e21208 |
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2001 |
|
Title: |
RIKEN Data Curation in Mouse Genome Informatics |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
GOA curators, MGI curators |
Year: |
2001 |
|
Title: |
Gene Ontology annotation based on Enzyme Commission mapping |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
MGI and IMPC |
Year: |
2018 |
Journal: |
Database Release |
Title: |
MGI Load of Endonuclease-Mediated Alleles (CRISPR) from the International Mouse Phenotyping Consortium (IMPC) |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Velocigene |
Year: |
2008 |
Journal: |
MGI Direct Data Submission |
Title: |
Alleles produced for the KOMP project by Velocigene (Regeneron Pharmaceuticals) |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
International Mouse Strain Resource |
Year: |
2014 |
Journal: |
Database Download |
Title: |
MGI download of germline transmission data for alleles from IMSR strain data |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Wellcome Trust Sanger Institute |
Year: |
2010 |
Journal: |
MGI Direct Data Submission |
Title: |
Alleles produced for the EUCOMM and EUCOMMTools projects by the Wellcome Trust Sanger Institute |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics and the International Mouse Phenotyping Consortium (IMPC) |
Year: |
2014 |
Journal: |
Database Release |
Title: |
Obtaining and Loading Phenotype Annotations from the International Mouse Phenotyping Consortium (IMPC) Database |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Hansen GM |
Year: |
2008 |
Journal: |
Genome Res |
Title: |
Large-scale gene trapping in C57BL/6N mouse embryonic stem cells. |
Volume: |
18 |
Issue: |
10 |
Pages: |
1670-9 |
|
•
•
•
•
•
|
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: |
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: |
Magdaleno S |
Year: |
2006 |
Journal: |
PLoS Biol |
Title: |
BGEM: an in situ hybridization database of gene expression in the embryonic and adult mouse nervous system. |
Volume: |
4 |
Issue: |
4 |
Pages: |
e86 |
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2003 |
|
Title: |
MGI Sequence Curation Reference |
|
|
|
|
•
•
•
•
•
|
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: |
Adams DJ |
Year: |
2024 |
Journal: |
Nature |
Title: |
Genetic determinants of micronucleus formation in vivo. |
Volume: |
627 |
Issue: |
8002 |
Pages: |
130-136 |
|
•
•
•
•
•
|
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: |
GemPharmatech |
Year: |
2020 |
|
Title: |
GemPharmatech Website. |
|
|
|
|
•
•
•
•
•
|
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: |
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: |
Cyagen Biosciences Inc. |
Year: |
2022 |
|
Title: |
Cyagen Biosciences Website. |
|
|
|
|
•
•
•
•
•
|
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: |
GOA curators |
Year: |
2016 |
|
Title: |
Automatic transfer of experimentally verified manual GO annotation data to orthologs using Ensembl Compara |
|
|
|
|
•
•
•
•
•
|
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: |
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: |
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 Gene 1.0 ST Array Platform |
|
|
|
|
•
•
•
•
•
|
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 Group |
Year: |
2003 |
Journal: |
Database Procedure |
Title: |
Automatic Encodes (AutoE) Reference |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Bairoch A |
Year: |
1999 |
Journal: |
Database Release |
Title: |
SWISS-PROT Annotated protein sequence database |
|
|
|
|
•
•
•
•
•
|
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: |
Mouse Genome Informatics Scientific Curators |
Year: |
2005 |
|
Title: |
Obtaining and loading genome assembly coordinates from NCBI annotations |
|
|
|
|
•
•
•
•
•
|
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: |
Johnson JL |
Year: |
2012 |
Journal: |
Mol Biol Cell |
Title: |
Vesicular trafficking through cortical actin during exocytosis is regulated by the Rab27a effector JFC1/Slp1 and the RhoA-GTPase-activating protein Gem-interacting protein. |
Volume: |
23 |
Issue: |
10 |
Pages: |
1902-16 |
|
•
•
•
•
•
|
Publication |
First Author: |
Zhang M |
Year: |
2016 |
Journal: |
J Immunol |
Title: |
A Heterozygous RAB27A Mutation Associated with Delayed Cytolytic Granule Polarization and Hemophagocytic Lymphohistiocytosis. |
Volume: |
196 |
Issue: |
6 |
Pages: |
2492-503 |
|
•
•
•
•
•
|
Publication |
First Author: |
Wang H |
Year: |
2013 |
Journal: |
Mol Biol Cell |
Title: |
The Rab27a effector exophilin7 promotes fusion of secretory granules that have not been docked to the plasma membrane. |
Volume: |
24 |
Issue: |
3 |
Pages: |
319-30 |
|
•
•
•
•
•
|
Publication |
First Author: |
Jiang S |
Year: |
2016 |
Journal: |
J Pathol |
Title: |
GGPPS-mediated Rab27A geranylgeranylation regulates β cell dysfunction during type 2 diabetes development by affecting insulin granule docked pool formation. |
Volume: |
238 |
Issue: |
1 |
Pages: |
109-19 |
|
•
•
•
•
•
|
Interaction Experiment |
Description: |
Rab27a regulates the peripheral distribution of melanosomes in melanocytes. |
|
•
•
•
•
•
|
Interaction Experiment |
Description: |
Synaptotagmin-like protein 5: a novel Rab27A effector with C-terminal tandem C2 domains. |
|
•
•
•
•
•
|
Publication |
First Author: |
Nagashima K |
Year: |
2002 |
Journal: |
FEBS Lett |
Title: |
Melanophilin directly links Rab27a and myosin Va through its distinct coiled-coil regions. |
Volume: |
517 |
Issue: |
1-3 |
Pages: |
233-8 |
|
•
•
•
•
•
|
Publication |
First Author: |
Ménasché G |
Year: |
2008 |
Journal: |
Blood |
Title: |
A newly identified isoform of Slp2a associates with Rab27a in cytotoxic T cells and participates to cytotoxic granule secretion. |
Volume: |
112 |
Issue: |
13 |
Pages: |
5052-62 |
|
•
•
•
•
•
|
Genotype |
Symbol: |
a/a Rab27a/Rab27a |
Background: |
involves: C3H/HeSnJ * C57BL/6J |
Zygosity: |
cx |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Allele |
Name: |
RAB27A, member RAS oncogene family; endonuclease-mediated mutation 2, Shanghai Model Organisms Center |
Allele Type: |
Endonuclease-mediated |
Attribute String: |
Null/knockout |
|
•
•
•
•
•
|
Publication |
First Author: |
Strom M |
Year: |
2002 |
Journal: |
J Biol Chem |
Title: |
A family of Rab27-binding proteins. Melanophilin links Rab27a and myosin Va function in melanosome transport. |
Volume: |
277 |
Issue: |
28 |
Pages: |
25423-30 |
|
•
•
•
•
•
|
Strain |
Attribute String: |
coisogenic, endonuclease-mediated mutation, mutant strain |
|
•
•
•
•
•
|
DO Term |
|
•
•
•
•
•
|
Allele |
Name: |
RAB27A, member RAS oncogene family; endonuclease-mediated mutation 1, Shanghai Model Organisms Center |
Allele Type: |
Endonuclease-mediated |
Attribute String: |
Conditional ready, No functional change |
|
•
•
•
•
•
|
Publication |
First Author: |
Johnson JL |
Year: |
2005 |
Journal: |
Biochem J |
Title: |
The Rab27a-binding protein, JFC1, regulates androgen-dependent secretion of prostate-specific antigen and prostatic-specific acid phosphatase. |
Volume: |
391 |
Issue: |
Pt 3 |
Pages: |
699-710 |
|
•
•
•
•
•
|
Publication |
First Author: |
Aizawa T |
Year: |
2005 |
Journal: |
J Clin Invest |
Title: |
Rab27a: a new face in beta cell metabolism-secretion coupling. |
Volume: |
115 |
Issue: |
2 |
Pages: |
227-30 |
|
•
•
•
•
•
|
Publication |
First Author: |
Fukuda M |
Year: |
2005 |
Journal: |
J Biochem |
Title: |
Versatile role of Rab27 in membrane trafficking: focus on the Rab27 effector families. |
Volume: |
137 |
Issue: |
1 |
Pages: |
9-16 |
|
•
•
•
•
•
|
Protein Domain |
Type: |
Family |
Description: |
This entry includes Rab27a and its highly homologous isoform, Rab27b. Unlike most Rab proteins whose functions remain poorly defined, Rab27a has many known functions. Rab27a has multiple effector proteins, and depending on which effector it binds, Rab27a has different functions as well as tissue distribution and/or cellular localization. Putative functions have been assigned to Rab27a when associated with the effector proteins Slp1, Slp2, Slp3, Slp4, Slp5, DmSlp, rabphilin, Dm/Ce-rabphilin, Slac2-a, Slac2-b, Slac2-c, Noc2, JFC1, and Munc13-4 [, ]. Rab27a has been associated with several human diseases, including hemophagocytic syndrome (Griscelli syndrome or GS), Hermansky-Pudlak syndrome, and choroidermia. In the case of GS, a rare, autosomal recessive disease, a Rab27a mutation is directly responsible for the disorder[]. When Rab27a is localized to the secretory granules of pancreatic beta cells, it is believed to mediate glucose-stimulated insulin secretion, making it a potential target for diabetes therapy [, ]. When bound to JFC1 in prostate cells, Rab27a is believed to regulate the exocytosis of prostate- specific markers [].Rabs are regulated by GTPase activating proteins (GAPs), which interact with GTP-bound Rab and accelerate the hydrolysis of GTP to GDP. Guanine nucleotide exchange factors (GEFs) interact with GDP-bound Rabs to promote the formation of the GTP-bound state. Rabs are further regulated by guanine nucleotide dissociation inhibitors (GDIs), which facilitate Rab recycling by masking C-terminal lipid binding and promoting cytosolic localization. Most Rab GTPases contain a lipid modification site at the C terminus, with sequence motifs CC, CXC, or CCX. Lipid binding is essential for membrane attachment, a key feature of most Rab proteins [, ]. |
|
•
•
•
•
•
|
Publication |
First Author: |
Yu M |
Year: |
2007 |
Journal: |
Mol Biol Cell |
Title: |
Exophilin4/Slp2-a targets glucagon granules to the plasma membrane through unique Ca2+-inhibitory phospholipid-binding activity of the C2A domain. |
Volume: |
18 |
Issue: |
2 |
Pages: |
688-96 |
|
•
•
•
•
•
|
Allele |
Name: |
RAB27A, member RAS oncogene family; ashen |
Allele Type: |
Spontaneous |
|
|
•
•
•
•
•
|
Allele |
Name: |
transgene insertion 84, Miguel C Seabra |
Allele Type: |
Transgenic |
Attribute String: |
Inserted expressed sequence |
|
•
•
•
•
•
|
Allele |
Name: |
RAB27A, member RAS oncogene family; concrete |
Allele Type: |
Chemically induced (ENU) |
|
|
•
•
•
•
•
|
Publication |
First Author: |
Matsumoto M |
Year: |
2004 |
Journal: |
Proc Natl Acad Sci U S A |
Title: |
Noc2 is essential in normal regulation of exocytosis in endocrine and exocrine cells. |
Volume: |
101 |
Issue: |
22 |
Pages: |
8313-8 |
|
•
•
•
•
•
|
Publication |
First Author: |
Fukuda M |
Year: |
2002 |
Journal: |
Biochem J |
Title: |
The C2A domain of synaptotagmin-like protein 3 (Slp3) is an atypical calcium-dependent phospholipid-binding machine: comparison with the C2A domain of synaptotagmin I. |
Volume: |
366 |
Issue: |
Pt 2 |
Pages: |
681-7 |
|
•
•
•
•
•
|
Publication |
First Author: |
Kurowska M |
Year: |
2012 |
Journal: |
Blood |
Title: |
Terminal transport of lytic granules to the immune synapse is mediated by the kinesin-1/Slp3/Rab27a complex. |
Volume: |
119 |
Issue: |
17 |
Pages: |
3879-89 |
|
•
•
•
•
•
|
Publication |
First Author: |
Kotake K |
Year: |
1997 |
Journal: |
J Biol Chem |
Title: |
Noc2, a putative zinc finger protein involved in exocytosis in endocrine cells. |
Volume: |
272 |
Issue: |
47 |
Pages: |
29407-10 |
|
•
•
•
•
•
|
Publication |
First Author: |
Shanmugam C |
Year: |
2009 |
Journal: |
Biotech Histochem |
Title: |
Immunohistochemical expression of rabphilin-3A-like (Noc2) in normal and tumor tissues of human endocrine pancreas. |
Volume: |
84 |
Issue: |
2 |
Pages: |
39-45 |
|
•
•
•
•
•
|
Protein Domain |
Type: |
Family |
Description: |
Noc2, also known as Rabphilin-3A-like protein, is a potential effector of Ras-associated binding proteins Rab3A and Rab27A [, ]that is involved in the regulation of exocytosis in endocrine and exocrine cells [, , ]. Noc2 may regulate insulin secretion from pancreatic beta-cells and amylase secretion from pancreatic acini []. |
|
•
•
•
•
•
|
Protein Domain |
Type: |
Family |
Description: |
Synaptotagmin-like protein 5 (SYTL5, also known as Slp5) belongs to the synaptotagmin-like protein family, which contains a N-terminal RabBD (Rab-binding) domain and two C-terminal C2 domains. Slp5 interacts with the GTP-bound form of Rab27A both in vitro and in intact cells. It is highly expressed in human placenta and liver. It may be involved in Rab27A-dependent membrane trafficking in specific tissues []. |
|
•
•
•
•
•
|
Protein Domain |
Type: |
Family |
Description: |
Synaptotagmin-like protein 3 (SYTL3, also known as Slp3) belongs to the synaptotagmin-like protein family, which contains a N-terminal RabBD (Rab-binding) domain and two C-terminal C2 domains. Slp3 binds phospholipids in the presence of calcium ions []. In mouse cytotoxic T lymphocytes, Slp3 is an effector of Rab27a and interacts with kinesin-1 through the tetratricopeptide repeat of the kinesin-1 light chain []. |
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•
•
•
•
•
|
Strain |
Attribute String: |
spontaneous mutation, congenic, mutant strain |
|
•
•
•
•
•
|
Strain |
Attribute String: |
spontaneous mutation, mutant strain, coisogenic |
|
•
•
•
•
•
|
Strain |
Attribute String: |
coisogenic, spontaneous mutation |
|
•
•
•
•
•
|
Strain |
Attribute String: |
F1 hybrid, mutant stock |
|
•
•
•
•
•
|
Strain |
Attribute String: |
mutant strain, congenic, transgenic |
|
•
•
•
•
•
|
Strain |
Attribute String: |
mutant strain, coisogenic, chemically induced mutation |
|
•
•
•
•
•
|
Strain |
Attribute String: |
coisogenic, chemically induced mutation, mutant strain |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Rab27a/Rab27a |
Background: |
involves: C3H/HeDiSn |
Zygosity: |
hm |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Rab27a/Rab27a |
Background: |
C57BL/6-Rab27a |
Zygosity: |
hm |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Rab27a/Rab27a |
Background: |
C3H/HeSn-Rab27a/JRos |
Zygosity: |
hm |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Rab27a/Rab27a |
Background: |
B6.C3Sn-Rab27a |
Zygosity: |
hm |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Rab27a/Rab27a |
Background: |
C3H/HeSn-Rab27a/J |
Zygosity: |
hm |
Has Mutant Allele: |
true |
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•
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Publication |
First Author: |
Hokanson DE |
Year: |
2012 |
Journal: |
Mol Biol Cell |
Title: |
EPI64 interacts with Slp1/JFC1 to coordinate Rab8a and Arf6 membrane trafficking. |
Volume: |
23 |
Issue: |
4 |
Pages: |
701-15 |
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Publication |
First Author: |
McAdara Berkowitz JK |
Year: |
2001 |
Journal: |
J Biol Chem |
Title: |
JFC1, a novel tandem C2 domain-containing protein associated with the leukocyte NADPH oxidase. |
Volume: |
276 |
Issue: |
22 |
Pages: |
18855-62 |
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Protein Domain |
Type: |
Family |
Description: |
Synaptotagmin-like protein 1 (Slp1/Jfc1) acts as a Rab27a effector and plays a role in vesicle trafficking [, ]. Through its interaction with Rab27a, Slp1 also contributes to secretory lysosome exocytosis from cytotoxic T lymphocytes. Slp1 (and Slp2) may form part of a docking complex, capturing secretory lysosomes at the immunological synapse [].Slp1 possesses two C2 domains in tandem, domain C2A showing homology with the C2B domain of synaptotagmins []. |
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Strain |
Attribute String: |
mutant strain, targeted mutation, spontaneous mutation, congenic |
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Genotype |
Symbol: |
Rab27a/Rab27a Rab27b/Rab27b |
Background: |
involves: 129X1/SvJ * C3H/HeSn * C57BL/6J |
Zygosity: |
cx |
Has Mutant Allele: |
true |
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•
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•
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Genotype |
Symbol: |
Rab27a/Rab27a Rab27b/Rab27b |
Background: |
involves: 129P2/OlaHsd * C3H/He * C3H/HeSn |
Zygosity: |
cx |
Has Mutant Allele: |
true |
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•
•
•
•
•
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Publication |
First Author: |
Kuroda TS |
Year: |
2004 |
Journal: |
Nat Cell Biol |
Title: |
Rab27A-binding protein Slp2-a is required for peripheral melanosome distribution and elongated cell shape in melanocytes. |
Volume: |
6 |
Issue: |
12 |
Pages: |
1195-203 |
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Publication |
First Author: |
Clark CS |
Year: |
1984 |
Journal: |
J Occup Med |
Title: |
Enteric parasites in workers occupationally exposed to sewage. |
Volume: |
26 |
Issue: |
4 |
Pages: |
273-5 |
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Protein Domain |
Type: |
Family |
Description: |
Synaptotagmin-like protein 2 (SYTL2) belongs to the synaptotagmin-like protein family, which contains a N-terminal RabBD (Rab-binding) domain and two C-terminal C2 domains. RabBD domain mediates interaction with RAB27A and recruitment on to vesicular structures in cytotoxic T-lymphocytes (CTL) [, ]. The C2 domain mediates binding to phosphatidylserine (PS) and phosphatidylinositol 4,5-bisphosphate (PIP2) and localisation to the cell membrane [, ]. SYTL2 has several isoforms produced by alternative splicing, and different isoforms may have different functions.In humans, SYTL2 isoform 1 acts as a RAB27A effector protein and plays a role in cytotoxic granule exocytosis in lymphocytes. It is required for cytotoxic granule docking at the immunologic synapse. Isoform 4 binds phosphatidylserine (PS) and phosphatidylinositol-4,5-bisphosphate (PIP2) and promotes the recruitment of glucagon-containing granules to the cell membrane in pancreatic alpha cells. Its binding to PS is inhibited by Ca2+ while binding to PIP2 is Ca2+ insensitive [, , ]. In mice, SYTL2 isoform 1 may play a role in melanosome transport and vesicle trafficking. It controls melanosome distribution in the cell periphery and regulates melanocyte morphology [, ]. Isoform 1 also acts as a positive mediator of mucus secretion by the surface mucus cells of the stomach. It mediates basal mucus secretion by gastric surface cells by promoting the proper granule biognesis and docking of mucus granules with the apical plasma membrane []. Isoform 11 acts as a RAB27A effector protein and plays a role in cytotoxic granule exocytosis in lymphocytes. It is required for cytotoxic granule docking at the immunologic synapse. Isoform 1 may play a role in melanosome transport and vesicle trafficking. It controls melanosome distribution in the cell periphery and regulates melanocyte morphology. |
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Protein |
Organism: |
Mus musculus/domesticus |
Length: |
221
 |
Fragment?: |
false |
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Protein |
Organism: |
Mus musculus/domesticus |
Length: |
218
 |
Fragment?: |
false |
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•
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Protein |
Organism: |
Mus musculus/domesticus |
Length: |
218
 |
Fragment?: |
false |
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•
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•
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Protein |
Organism: |
Mus musculus/domesticus |
Length: |
218
 |
Fragment?: |
false |
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Genotype |
Symbol: |
Mreg/Mreg Rab27a/Rab27a |
Background: |
involves: C3H/HeSn |
Zygosity: |
cx |
Has Mutant Allele: |
true |
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Publication |
First Author: |
Izumi T |
Year: |
2003 |
Journal: |
Cell Struct Funct |
Title: |
The roles of Rab27 and its effectors in the regulated secretory pathways. |
Volume: |
28 |
Issue: |
5 |
Pages: |
465-74 |
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Protein |
Organism: |
Mus musculus/domesticus |
Length: |
529
 |
Fragment?: |
false |
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Protein |
Organism: |
Mus musculus/domesticus |
Length: |
534
 |
Fragment?: |
true |
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Protein |
Organism: |
Mus musculus/domesticus |
Length: |
211
 |
Fragment?: |
true |
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