| Type |
Details |
Score |
| Gene |
| Type: |
gene |
| Organism: |
human |
|
•
•
•
•
•
|
| Gene |
| Type: |
gene |
| Organism: |
frog, western clawed |
|
•
•
•
•
•
|
| Gene |
| Type: |
gene |
| Organism: |
dog, domestic |
|
•
•
•
•
•
|
| Gene |
|
•
•
•
•
•
|
| Gene |
| Type: |
gene |
| Organism: |
chimpanzee |
|
•
•
•
•
•
|
| Gene |
| Type: |
gene |
| Organism: |
cattle |
|
•
•
•
•
•
|
| Gene |
| Type: |
gene |
| Organism: |
chicken |
|
•
•
•
•
•
|
| Gene |
| Type: |
gene |
| Organism: |
macaque, rhesus |
|
•
•
•
•
•
|
| Protein Coding Gene |
| Type: |
protein_coding_gene |
| Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Lan Y |
| Year: |
2019 |
| Journal: |
Autophagy |
| Title: |
SMCR8 negatively regulates AKT and MTORC1 signaling to modulate lysosome biogenesis and tissue homeostasis. |
| Volume: |
15 |
| Issue: |
5 |
| Pages: |
871-885 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Zhang Y |
| Year: |
2018 |
| Journal: |
Genes Dev |
| Title: |
The C9orf72-interacting protein Smcr8 is a negative regulator of autoimmunity and lysosomal exocytosis. |
| Volume: |
32 |
| Issue: |
13-14 |
| Pages: |
929-943 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Liang C |
| Year: |
2019 |
| Journal: |
Hum Mol Genet |
| Title: |
Smcr8 deficiency disrupts axonal transport-dependent lysosomal function and promotes axonal swellings and gain of toxicity in C9ALS/FTD mouse models. |
| Volume: |
28 |
| Issue: |
23 |
| Pages: |
3940-3953 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Shao Q |
| Year: |
2020 |
| Journal: |
Autophagy |
| Title: |
C9orf72 and smcr8 mutant mice reveal MTORC1 activation due to impaired lysosomal degradation and exocytosis. |
| Volume: |
16 |
| Issue: |
9 |
| Pages: |
1635-1650 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Ugolino J |
| Year: |
2016 |
| Journal: |
PLoS Genet |
| Title: |
Loss of C9orf72 Enhances Autophagic Activity via Deregulated mTOR and TFEB Signaling. |
| Volume: |
12 |
| Issue: |
11 |
| Pages: |
e1006443 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Yang M |
| Year: |
2016 |
| Journal: |
Sci Adv |
| Title: |
A C9ORF72/SMCR8-containing complex regulates ULK1 and plays a dual role in autophagy. |
| Volume: |
2 |
| Issue: |
9 |
| Pages: |
e1601167 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Xiao S |
| Year: |
2019 |
| Journal: |
Acta Neuropathol Commun |
| Title: |
Synaptic localization of C9orf72 regulates post-synaptic glutamate receptor 1 levels. |
| Volume: |
7 |
| Issue: |
1 |
| Pages: |
161 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
McAlpine W |
| Year: |
2018 |
| Journal: |
Proc Natl Acad Sci U S A |
| Title: |
Excessive endosomal TLR signaling causes inflammatory disease in mice with defective SMCR8-WDR41-C9ORF72 complex function. |
| Volume: |
115 |
| Issue: |
49 |
| Pages: |
E11523-E11531 |
|
•
•
•
•
•
|
| Protein Coding Gene |
| Type: |
protein_coding_gene |
| Organism: |
Mus caroli |
|
•
•
•
•
•
|
| Protein Coding Gene |
| Type: |
protein_coding_gene |
| Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
| Protein Coding Gene |
| Type: |
protein_coding_gene |
| Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
| Protein Coding Gene |
| Type: |
protein_coding_gene |
| Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
| Protein Coding Gene |
| Type: |
protein_coding_gene |
| Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
| Protein Coding Gene |
| Type: |
protein_coding_gene |
| Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
| Protein Coding Gene |
| Type: |
protein_coding_gene |
| Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
| Protein Coding Gene |
| Type: |
protein_coding_gene |
| Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
| Protein Coding Gene |
| Type: |
protein_coding_gene |
| Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
| Protein Coding Gene |
| Type: |
protein_coding_gene |
| Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
| Protein Coding Gene |
| Type: |
protein_coding_gene |
| Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
| Protein Coding Gene |
| Type: |
protein_coding_gene |
| Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
| Protein Coding Gene |
| Type: |
protein_coding_gene |
| Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
| Protein Coding Gene |
| Type: |
protein_coding_gene |
| Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
| Protein Coding Gene |
| Type: |
protein_coding_gene |
| Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
| Protein Coding Gene |
| Type: |
protein_coding_gene |
| Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
| Protein Coding Gene |
| Type: |
protein_coding_gene |
| Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
| Protein Coding Gene |
| Type: |
protein_coding_gene |
| Organism: |
Mus pahari |
|
•
•
•
•
•
|
| Protein Coding Gene |
| Type: |
protein_coding_gene |
| Organism: |
Mus spretus |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Yan J |
| Year: |
2007 |
| Journal: |
Am J Hum Genet |
| Title: |
Penetrance of craniofacial anomalies in mouse models of Smith-Magenis syndrome is modified by genomic sequence surrounding Rai1: not all null alleles are alike. |
| Volume: |
80 |
| Issue: |
3 |
| Pages: |
518-25 |
|
•
•
•
•
•
|
| 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: |
Shanghai Model Organisms Center |
| Year: |
2017 |
| Journal: |
MGI Direct Data Submission |
| Title: |
Information obtained from the Shanghai Model Organisms Center (SMOC), Shanghai, China |
|
|
|
|
•
•
•
•
•
|
| Publication |
| First Author: |
Birgit Meldal and Sandra Orchard (1). (1) European Bioinformatics Institute (EBI), Hinxton, Cambridgeshire, United Kingdom |
| Year: |
2023 |
|
| Title: |
Manual transfer of experimentally-verified manual GO annotation data to homologous complexes by curator judgment of sequence, composition and function similarity |
|
|
|
|
•
•
•
•
•
|
| 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: |
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: |
GUDMAP Consortium |
| Year: |
2004 |
| Journal: |
www.gudmap.org |
| Title: |
GUDMAP: the GenitoUrinary Development Molecular Anatomy Project |
|
|
|
|
•
•
•
•
•
|
| 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: |
Mouse Genome Informatics Scientific Curators |
| Year: |
2003 |
|
| Title: |
MGI Sequence Curation Reference |
|
|
|
|
•
•
•
•
•
|
| 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: |
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: |
UniProt-GOA |
| Year: |
2012 |
|
| Title: |
Gene Ontology annotation based on UniProtKB/Swiss-Prot keyword mapping |
|
|
|
|
•
•
•
•
•
|
| 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: |
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: |
2002 |
|
| Title: |
Mouse Genome Informatics Computational Sequence to Gene Associations |
|
|
|
|
•
•
•
•
•
|
| 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 |
|
|
|
|
•
•
•
•
•
|
| UniProt Feature |
| Begin: |
1 |
| Description: |
Guanine nucleotide exchange protein SMCR8 |
| Type: |
chain |
| End: |
935 |
|
•
•
•
•
•
|
| 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 |
|
•
•
•
•
•
|
| Protein |
| Organism: |
Mus musculus/domesticus |
| Length: |
935
 |
| Fragment?: |
false |
|
•
•
•
•
•
|
| Protein |
| Organism: |
Mus musculus/domesticus |
| Length: |
785
 |
| Fragment?: |
false |
|
•
•
•
•
•
|
| Allele |
| Name: |
Smith-Magenis syndrome chromosome region, candidate 8 homolog (human); endonuclease-mediated mutation 1, Shanghai Model Organisms Center |
| Allele Type: |
Endonuclease-mediated |
| Attribute String: |
Null/knockout |
|
•
•
•
•
•
|
| 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 |
|
|
|
•
•
•
•
•
|
| Strain |
| Attribute String: |
coisogenic, endonuclease-mediated mutation, mutant strain |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Bi W |
| Year: |
2002 |
| Journal: |
Genome Res |
| Title: |
Genes in a refined Smith-Magenis syndrome critical deletion interval on chromosome 17p11.2 and the syntenic region of the mouse. |
| Volume: |
12 |
| Issue: |
5 |
| Pages: |
713-28 |
|
•
•
•
•
•
|
| Allele |
| Name: |
Smith-Magenis syndrome chromosome region, candidate 8 homolog (human); endonuclease-mediated mutation 1, Bruce Beutler |
| Allele Type: |
Endonuclease-mediated |
| Attribute String: |
Null/knockout |
|
•
•
•
•
•
|
| Allele |
| Name: |
Smith-Magenis syndrome chromosome region, candidate 8 homolog (human); endonuclease-mediated mutation 2, Bruce Beutler |
| Allele Type: |
Endonuclease-mediated |
| Attribute String: |
Not Specified |
|
•
•
•
•
•
|
| Allele |
| Name: |
Smith-Magenis syndrome chromosome region, candidate 8 homolog (human); mutation 2, Bruce Beutler |
| Allele Type: |
Chemically induced (ENU) |
| Attribute String: |
Not Specified |
|
•
•
•
•
•
|
| Strain |
| Attribute String: |
coisogenic, chemically induced mutation, mutant strain |
|
•
•
•
•
•
|
| Allele |
| Name: |
Smith-Magenis syndrome chromosome region, candidate 8 homolog (human); mutation 3, Bruce Beutler |
| Allele Type: |
Chemically induced (ENU) |
| Attribute String: |
Not Specified |
|
•
•
•
•
•
|
| Strain |
| Attribute String: |
mutant strain, chemically induced mutation, coisogenic |
|
•
•
•
•
•
|
| Strain |
| Attribute String: |
coisogenic, endonuclease-mediated mutation, mutant strain |
|
•
•
•
•
•
|
| Strain |
| Attribute String: |
mutant strain, endonuclease-mediated mutation, coisogenic |
|
•
•
•
•
•
|
| Allele |
| Name: |
Smith-Magenis syndrome chromosome region, candidate 8 homolog (human); mutation 1, Bruce Beutler |
| Allele Type: |
Chemically induced (ENU) |
| Attribute String: |
Not Specified |
|
•
•
•
•
•
|
| Strain |
| Attribute String: |
coisogenic, mutant strain, chemically induced mutation |
|
•
•
•
•
•
|
| Genotype |
| Symbol: |
Smcr8/Smcr8 |
| Background: |
C57BL/6J-Smcr8 |
| Zygosity: |
hm |
| Has Mutant Allele: |
true |
|
•
•
•
•
•
|
| Genotype |
| Symbol: |
Smcr8/Smcr8 |
| Background: |
C57BL/6J-Smcr8 |
| Zygosity: |
hm |
| Has Mutant Allele: |
true |
|
•
•
•
•
•
|
| Genotype |
| Symbol: |
Smcr8/Smcr8<+> |
| Background: |
C57BL/6J-Smcr8 |
| Zygosity: |
ht |
| Has Mutant Allele: |
true |
|
•
•
•
•
•
|
| Genotype |
| Symbol: |
Smcr8/Smcr8 |
| Background: |
C57BL/6J-Smcr8 |
| Zygosity: |
hm |
| Has Mutant Allele: |
true |
|
•
•
•
•
•
|
| Genotype |
| Symbol: |
Smcr8/Smcr8 |
| Background: |
C57BL/6J-Smcr8 |
| Zygosity: |
hm |
| Has Mutant Allele: |
true |
|
•
•
•
•
•
|
| Genotype |
| Symbol: |
Smcr8/Smcr8 |
| Background: |
C57BL/6J-Smcr8 |
| Zygosity: |
hm |
| Has Mutant Allele: |
true |
|
•
•
•
•
•
|
| Genotype |
| Symbol: |
Smcr8/Smcr8 Tlr3/Tlr3 Tlr7/Tlr7 Tlr9/Tlr9 |
| Background: |
involves: 129P2/OlaHsd * 129S1/Sv * C57BL/6J |
| Zygosity: |
cx |
| Has Mutant Allele: |
true |
|
•
•
•
•
•
|
| 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: |
Ma L |
| Year: |
2023 |
| Journal: |
Hum Mol Genet |
| Title: |
Reversing lysosome-ribosome circuit dysregulation mitigates C9FTD/ALS neurodegeneration and behaviors. |
| Volume: |
32 |
| Issue: |
8 |
| Pages: |
1252-1265 |
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| First Author: |
Villén J |
| Year: |
2007 |
| Journal: |
Proc Natl Acad Sci U S A |
| Title: |
Large-scale phosphorylation analysis of mouse liver. |
| Volume: |
104 |
| Issue: |
5 |
| Pages: |
1488-93 |
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| Publication |
| First Author: |
Gerhard DS |
| Year: |
2004 |
| Journal: |
Genome Res |
| Title: |
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |
| Volume: |
14 |
| Issue: |
10B |
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2121-7 |
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| 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 |
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| Publication |
| First Author: |
Church DM |
| Year: |
2009 |
| Journal: |
PLoS Biol |
| Title: |
Lineage-specific biology revealed by a finished genome assembly of the mouse. |
| Volume: |
7 |
| Issue: |
5 |
| Pages: |
e1000112 |
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