| Type |
Details |
Score |
| Publication |
| First Author: |
MGI Genome Annotation Group and UniGene Staff |
| Year: |
2015 |
| Journal: |
Database Download |
| Title: |
MGI-UniGene Interconnection Effort |
|
|
|
|
•
•
•
•
•
|
| 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: |
Wang Z |
| Year: |
2023 |
| Journal: |
Front Aging Neurosci |
| Title: |
Loss of RAB39B does not alter MPTP-induced Parkinson's disease-like phenotypes in mice. |
| Volume: |
15 |
|
| Pages: |
1087823 |
|
•
•
•
•
•
|
| Allele |
| Name: |
RAB39B, member RAS oncogene family; endonuclease-mediated mutation 6, Cathy Lutz |
| Allele Type: |
Endonuclease-mediated |
| Attribute String: |
Conditional ready |
|
•
•
•
•
•
|
| Allele |
| Name: |
RAB39B, member RAS oncogene family; endonuclease-mediated mutation 1, Shanghai Model Organisms Center |
| Allele Type: |
Endonuclease-mediated |
| Attribute String: |
Null/knockout |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Wilson GR |
| Year: |
2014 |
| Journal: |
Am J Hum Genet |
| Title: |
Mutations in RAB39B cause X-linked intellectual disability and early-onset Parkinson disease with α-synuclein pathology. |
| Volume: |
95 |
| Issue: |
6 |
| Pages: |
729-35 |
|
•
•
•
•
•
|
| Strain |
| Attribute String: |
coisogenic, endonuclease-mediated mutation, mutant strain |
|
•
•
•
•
•
|
| Genotype |
| Symbol: |
Rab39b/? |
| Background: |
B6N.Cg-Rab39b |
| Zygosity: |
ot |
| Has Mutant Allele: |
true |
|
•
•
•
•
•
|
| DO Term |
|
•
•
•
•
•
|
| DO Term |
|
•
•
•
•
•
|
| Allele |
| Name: |
transgene insertion TL73, GENSAT Project at Rockefeller University |
| Allele Type: |
Transgenic |
| Attribute String: |
Recombinase |
|
•
•
•
•
•
|
| Strain |
| Attribute String: |
transgenic, mutant stock |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Sellier C |
| Year: |
2016 |
| Journal: |
EMBO J |
| Title: |
Loss of C9ORF72 impairs autophagy and synergizes with polyQ Ataxin-2 to induce motor neuron dysfunction and cell death. |
| Volume: |
35 |
| Issue: |
12 |
| Pages: |
1276-97 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Fukuda M |
| Year: |
2002 |
| Journal: |
J Biol Chem |
| Title: |
Slac2-a/melanophilin, the missing link between Rab27 and myosin Va: implications of a tripartite protein complex for melanosome transport. |
| Volume: |
277 |
| Issue: |
14 |
| Pages: |
12432-6 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Seto S |
| Year: |
2013 |
| Journal: |
PLoS One |
| Title: |
Rab39a interacts with phosphatidylinositol 3-kinase and negatively regulates autophagy induced by lipopolysaccharide stimulation in macrophages. |
| Volume: |
8 |
| Issue: |
12 |
| Pages: |
e83324 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Seto S |
| Year: |
2011 |
| Journal: |
Traffic |
| Title: |
Rab GTPases regulating phagosome maturation are differentially recruited to mycobacterial phagosomes. |
| Volume: |
12 |
| Issue: |
4 |
| Pages: |
407-20 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Becker CE |
| Year: |
2009 |
| Journal: |
J Biol Chem |
| Title: |
Rab39a binds caspase-1 and is required for caspase-1-dependent interleukin-1beta secretion. |
| Volume: |
284 |
| Issue: |
50 |
| Pages: |
34531-7 |
|
•
•
•
•
•
|
| Protein Domain |
| Type: |
Family |
| Description: |
This entry includes Ras-related proteins Rab39a and Rab39b. Rab39a is involved in phagosome maturation, inflammatory activation and neuritogenesis [, , ]. It also interacts with PI3K and negatively regulates the LPS-induced autophagy in macrophages []. Rab39b has also been found to be involved in autophagy and neuritogenesis []. Rab39a is widely expressed, while Rab39b is enriched in the brain []. 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: |
Itoh T |
| Year: |
2006 |
| Journal: |
Genes Cells |
| Title: |
Screening for target Rabs of TBC (Tre-2/Bub2/Cdc16) domain-containing proteins based on their Rab-binding activity. |
| Volume: |
11 |
| Issue: |
9 |
| Pages: |
1023-37 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Kuroda TS |
| Year: |
2002 |
| Journal: |
J Biol Chem |
| Title: |
The Slp homology domain of synaptotagmin-like proteins 1-4 and Slac2 functions as a novel Rab27A binding domain. |
| Volume: |
277 |
| Issue: |
11 |
| Pages: |
9212-8 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Fukuda M |
| Year: |
2003 |
| Journal: |
J Biol Chem |
| Title: |
Distinct Rab binding specificity of Rim1, Rim2, rabphilin, and Noc2. Identification of a critical determinant of Rab3A/Rab27A recognition by Rim2. |
| Volume: |
278 |
| Issue: |
17 |
| Pages: |
15373-80 |
|
•
•
•
•
•
|
| Protein |
| Organism: |
Mus musculus/domesticus |
| Length: |
481
 |
| Fragment?: |
false |
|
•
•
•
•
•
|
| Protein |
| Organism: |
Mus musculus/domesticus |
| Length: |
317
 |
| Fragment?: |
false |
|
•
•
•
•
•
|
| Protein |
| Organism: |
Mus musculus/domesticus |
| Length: |
317
 |
| Fragment?: |
false |
|
•
•
•
•
•
|
| Publication |
| First Author: |
DeJesus-Hernandez M |
| Year: |
2011 |
| Journal: |
Neuron |
| Title: |
Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS. |
| Volume: |
72 |
| Issue: |
2 |
| Pages: |
245-56 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Tang D |
| Year: |
2020 |
| Journal: |
Proc Natl Acad Sci U S A |
| Title: |
Cryo-EM structure of C9ORF72-SMCR8-WDR41 reveals the role as a GAP for Rab8a and Rab11a. |
| Volume: |
117 |
| Issue: |
18 |
| Pages: |
9876-9883 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Nörpel J |
| Year: |
2021 |
| Journal: |
PLoS Biol |
| Title: |
Structure of the human C9orf72-SMCR8 complex reveals a multivalent protein interaction architecture. |
| Volume: |
19 |
| Issue: |
7 |
| Pages: |
e3001344 |
|
•
•
•
•
•
|
| Protein Domain |
| Type: |
Family |
| Description: |
The entry includes Guanine nucleotide exchange factor C9orf72 protein, a component of the C9orf72-SMCR8 complex, which has guanine nucleotide exchange factor activity []and regulates autophagy [, ]. The C9orf72 protein is proposed to be a catalytic component for the exchange of GDP to GTP and promoting autophagosome maturation by converting inactive GDP-bound RAB8A and RAB39B into their active forms []. Defects in the C9orf72 gene are the cause of frontotemporal dementia and/or amyotrophic lateral sclerosis (FTDALS) which is an autosomal dominant neurodegenerative disorder. The disorder is caused by a large expansion of a GGGGCC hexanucleotide within the first C9orf72 intron located between the first and the second non-coding exons. The expansion leads to the loss of transcription of one of the two transcripts encoding isoform 1 and to the formation of nuclear RNA foci []. This family is found in eukaryotes.C9orf72 contains the DENN domain, which forms a heart-shaped structure (), with the N-terminal residues forming one lobe and the C-terminal residues forming the second one. The tripartite DENN (after differentially expressed in neoplastic versus normal cells) domain is found in several proteins that share common structural features and have been shown to be guanine nucleotide exchange factors (GEFs) for Rab GTPases, which are regulators of practically all membrane trafficking events in eukaryotes [, ]. |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Sullivan PM |
| Year: |
2016 |
| Journal: |
Acta Neuropathol Commun |
| Title: |
The ALS/FTLD associated protein C9orf72 associates with SMCR8 and WDR41 to regulate the autophagy-lysosome pathway. |
| Volume: |
4 |
| Issue: |
1 |
| Pages: |
51 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Jung J |
| Year: |
2017 |
| Journal: |
Elife |
| Title: |
Multiplex image-based autophagy RNAi screening identifies SMCR8 as ULK1 kinase activity and gene expression regulator. |
| Volume: |
6 |
|
|
|
•
•
•
•
•
|
| Protein |
| Organism: |
Mus musculus/domesticus |
| Length: |
217
 |
| Fragment?: |
false |
|
•
•
•
•
•
|
| Protein |
| Organism: |
Mus musculus/domesticus |
| Length: |
213
 |
| Fragment?: |
false |
|
•
•
•
•
•
|
| Protein |
| Organism: |
Mus musculus/domesticus |
| Length: |
217
 |
| Fragment?: |
false |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Dumas JJ |
| Year: |
1999 |
| Journal: |
Structure |
| Title: |
Structural basis of activation and GTP hydrolysis in Rab proteins. |
| Volume: |
7 |
| Issue: |
4 |
| Pages: |
413-23 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Wu X |
| Year: |
2011 |
| Journal: |
Proc Natl Acad Sci U S A |
| Title: |
Insights regarding guanine nucleotide exchange from the structure of a DENN-domain protein complexed with its Rab GTPase substrate. |
| Volume: |
108 |
| Issue: |
46 |
| Pages: |
18672-7 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Stenmark H |
| Year: |
2001 |
| Journal: |
Genome Biol |
| Title: |
The Rab GTPase family. |
| Volume: |
2 |
| Issue: |
5 |
| Pages: |
REVIEWS3007 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
The Gene Expression Nervous System Atlas (GENSAT) Project, The Rockefeller University (New York, NY) |
| Year: |
2005 |
| Journal: |
Database Download |
| Title: |
MGI download of GENSAT transgene data |
|
|
|
|
•
•
•
•
•
|
| Publication |
| First Author: |
Huttlin EL |
| Year: |
2010 |
| Journal: |
Cell |
| Title: |
A tissue-specific atlas of mouse protein phosphorylation and expression. |
| Volume: |
143 |
| Issue: |
7 |
| Pages: |
1174-89 |
|
•
•
•
•
•
|