Type |
Details |
Score |
Gene |
Type: |
gene |
Organism: |
human |
|
•
•
•
•
•
|
Gene |
Type: |
gene |
Organism: |
frog, western clawed |
|
•
•
•
•
•
|
Gene |
Type: |
gene |
Organism: |
chicken |
|
•
•
•
•
•
|
Gene |
|
•
•
•
•
•
|
Gene |
Type: |
gene |
Organism: |
chimpanzee |
|
•
•
•
•
•
|
Gene |
Type: |
gene |
Organism: |
dog, domestic |
|
•
•
•
•
•
|
Gene |
Type: |
gene |
Organism: |
cattle |
|
•
•
•
•
•
|
Gene |
Type: |
gene |
Organism: |
zebrafish |
|
•
•
•
•
•
|
Gene |
Type: |
gene |
Organism: |
macaque, rhesus |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
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 |
|
•
•
•
•
•
|
GXD Expression |
|
Assay Type: |
In situ reporter (knock in) |
Annotation Date: |
2021-04-16 |
Strength: |
Present |
Sex: |
Male |
Emaps: |
EMAPS:1737328 |
Pattern: |
Not Specified |
Stage: |
TS28 |
Assay Id: |
MGI:6691813 |
Age: |
postnatal adult |
Image: |
JAX_1374175 |
Note: |
kidney |
Specimen Label: |
JAX_1374175 |
Detected: |
true |
Specimen Num: |
19 |
|
•
•
•
•
•
|
GXD Expression |
|
Assay Type: |
In situ reporter (knock in) |
Annotation Date: |
2021-04-16 |
Strength: |
Present |
Sex: |
Male |
Emaps: |
EMAPS:1619828 |
Pattern: |
Not Specified |
Stage: |
TS28 |
Assay Id: |
MGI:6691813 |
Age: |
postnatal adult |
Image: |
JAX_1374177 |
|
Specimen Label: |
JAX_1374177 |
Detected: |
true |
Specimen Num: |
21 |
|
•
•
•
•
•
|
GXD Expression |
|
Assay Type: |
In situ reporter (knock in) |
Annotation Date: |
2021-04-16 |
Strength: |
Present |
Sex: |
Male |
Emaps: |
EMAPS:3267828 |
Pattern: |
Not Specified |
Stage: |
TS28 |
Assay Id: |
MGI:6691813 |
Age: |
postnatal adult |
Image: |
JAX_1374168 |
|
Specimen Label: |
JAX_1374168 |
Detected: |
true |
Specimen Num: |
12 |
|
•
•
•
•
•
|
GXD Expression |
|
Assay Type: |
In situ reporter (knock in) |
Annotation Date: |
2021-04-16 |
Strength: |
Present |
Sex: |
Male |
Emaps: |
EMAPS:1706828 |
Pattern: |
Not Specified |
Stage: |
TS28 |
Assay Id: |
MGI:6691813 |
Age: |
postnatal adult |
Image: |
JAX_1374171 |
|
Specimen Label: |
JAX_1374171 |
Detected: |
true |
Specimen Num: |
15 |
|
•
•
•
•
•
|
GXD Expression |
|
Assay Type: |
In situ reporter (knock in) |
Annotation Date: |
2021-04-16 |
Strength: |
Present |
Sex: |
Male |
Emaps: |
EMAPS:1925228 |
Pattern: |
Not Specified |
Stage: |
TS28 |
Assay Id: |
MGI:6691813 |
Age: |
postnatal adult |
Image: |
JAX_1374172 |
|
Specimen Label: |
JAX_1374172 |
Detected: |
true |
Specimen Num: |
16 |
|
•
•
•
•
•
|
GXD Expression |
|
Assay Type: |
In situ reporter (knock in) |
Annotation Date: |
2021-04-16 |
Strength: |
Present |
Sex: |
Male |
Emaps: |
EMAPS:1778728 |
Pattern: |
Not Specified |
Stage: |
TS28 |
Assay Id: |
MGI:6691813 |
Age: |
postnatal adult |
Image: |
JAX_1374166 |
|
Specimen Label: |
JAX_1374166 |
Detected: |
true |
Specimen Num: |
10 |
|
•
•
•
•
•
|
GXD Expression |
|
Assay Type: |
In situ reporter (knock in) |
Annotation Date: |
2021-04-16 |
Strength: |
Present |
Sex: |
Male |
Emaps: |
EMAPS:1672828 |
Pattern: |
Not Specified |
Stage: |
TS28 |
Assay Id: |
MGI:6691813 |
Age: |
postnatal adult |
Image: |
JAX_1374170 |
|
Specimen Label: |
JAX_1374170 |
Detected: |
true |
Specimen Num: |
14 |
|
•
•
•
•
•
|
GXD Expression |
|
Assay Type: |
In situ reporter (knock in) |
Annotation Date: |
2021-04-16 |
Strength: |
Present |
Sex: |
Male |
Emaps: |
EMAPS:1610528 |
Pattern: |
Not Specified |
Stage: |
TS28 |
Assay Id: |
MGI:6691813 |
Age: |
postnatal adult |
Image: |
JAX_1374176 |
|
Specimen Label: |
JAX_1374176 |
Detected: |
true |
Specimen Num: |
20 |
|
•
•
•
•
•
|
GXD Expression |
|
Assay Type: |
In situ reporter (knock in) |
Annotation Date: |
2021-04-16 |
Strength: |
Present |
Sex: |
Female |
Emaps: |
EMAPS:1603920 |
Pattern: |
Not Specified |
Stage: |
TS20 |
Assay Id: |
MGI:6691813 |
Age: |
embryonic day 12.5 |
Image: |
JAX_1470974 |
|
Specimen Label: |
JAX_1470974 |
Detected: |
true |
Specimen Num: |
1 |
|
•
•
•
•
•
|
GXD Expression |
|
Assay Type: |
In situ reporter (knock in) |
Annotation Date: |
2021-04-16 |
Strength: |
Present |
Sex: |
Female |
Emaps: |
EMAPS:1603920 |
Pattern: |
Not Specified |
Stage: |
TS20 |
Assay Id: |
MGI:6691813 |
Age: |
embryonic day 12.5 |
Image: |
JAX_1470975 |
|
Specimen Label: |
JAX_1470975 |
Detected: |
true |
Specimen Num: |
2 |
|
•
•
•
•
•
|
GXD Expression |
|
Assay Type: |
In situ reporter (knock in) |
Annotation Date: |
2021-04-16 |
Strength: |
Present |
Sex: |
Female |
Emaps: |
EMAPS:1603920 |
Pattern: |
Not Specified |
Stage: |
TS20 |
Assay Id: |
MGI:6691813 |
Age: |
embryonic day 12.5 |
Image: |
JAX_1470976 |
|
Specimen Label: |
JAX_1470976 |
Detected: |
true |
Specimen Num: |
3 |
|
•
•
•
•
•
|
GXD Expression |
|
Assay Type: |
In situ reporter (knock in) |
Annotation Date: |
2021-04-16 |
Strength: |
Present |
Sex: |
Female |
Emaps: |
EMAPS:1603920 |
Pattern: |
Not Specified |
Stage: |
TS20 |
Assay Id: |
MGI:6691813 |
Age: |
embryonic day 12.5 |
Image: |
JAX_1470977 |
|
Specimen Label: |
JAX_1470977 |
Detected: |
true |
Specimen Num: |
4 |
|
•
•
•
•
•
|
GXD Expression |
|
Assay Type: |
In situ reporter (knock in) |
Annotation Date: |
2021-04-16 |
Strength: |
Present |
Sex: |
Not Specified |
Emaps: |
EMAPS:1603920 |
Pattern: |
Not Specified |
Stage: |
TS20 |
Assay Id: |
MGI:6691813 |
Age: |
embryonic day 12.5 |
Image: |
JAX_1470978 |
|
Specimen Label: |
JAX_1470978 |
Detected: |
true |
Specimen Num: |
5 |
|
•
•
•
•
•
|
GXD Expression |
|
Assay Type: |
In situ reporter (knock in) |
Annotation Date: |
2021-04-16 |
Strength: |
Present |
Sex: |
Not Specified |
Emaps: |
EMAPS:1603920 |
Pattern: |
Not Specified |
Stage: |
TS20 |
Assay Id: |
MGI:6691813 |
Age: |
embryonic day 12.5 |
Image: |
JAX_1470979 |
|
Specimen Label: |
JAX_1470979 |
Detected: |
true |
Specimen Num: |
6 |
|
•
•
•
•
•
|
GXD Expression |
|
Assay Type: |
In situ reporter (knock in) |
Annotation Date: |
2021-04-16 |
Strength: |
Present |
Sex: |
Not Specified |
Emaps: |
EMAPS:1603920 |
Pattern: |
Not Specified |
Stage: |
TS20 |
Assay Id: |
MGI:6691813 |
Age: |
embryonic day 12.5 |
Image: |
JAX_1470980 |
|
Specimen Label: |
JAX_1470980 |
Detected: |
true |
Specimen Num: |
7 |
|
•
•
•
•
•
|
GXD Expression |
|
Assay Type: |
In situ reporter (knock in) |
Annotation Date: |
2021-04-16 |
Strength: |
Present |
Sex: |
Not Specified |
Emaps: |
EMAPS:1603920 |
Pattern: |
Not Specified |
Stage: |
TS20 |
Assay Id: |
MGI:6691813 |
Age: |
embryonic day 12.5 |
Image: |
JAX_1470981 |
|
Specimen Label: |
JAX_1470981 |
Detected: |
true |
Specimen Num: |
8 |
|
•
•
•
•
•
|
GXD Expression |
|
Assay Type: |
In situ reporter (knock in) |
Annotation Date: |
2021-04-16 |
Strength: |
Present |
Sex: |
Male |
Emaps: |
EMAPS:1750328 |
Pattern: |
Not Specified |
Stage: |
TS28 |
Assay Id: |
MGI:6691813 |
Age: |
postnatal adult |
Image: |
JAX_1374169 |
|
Specimen Label: |
JAX_1374169 |
Detected: |
true |
Specimen Num: |
13 |
|
•
•
•
•
•
|
GXD Expression |
|
Assay Type: |
In situ reporter (knock in) |
Annotation Date: |
2021-04-16 |
Strength: |
Present |
Sex: |
Male |
Emaps: |
EMAPS:1797228 |
Pattern: |
Not Specified |
Stage: |
TS28 |
Assay Id: |
MGI:6691813 |
Age: |
postnatal adult |
Image: |
JAX_1374174 |
|
Specimen Label: |
JAX_1374174 |
Detected: |
true |
Specimen Num: |
18 |
|
•
•
•
•
•
|
GXD Expression |
|
Assay Type: |
In situ reporter (knock in) |
Annotation Date: |
2021-04-16 |
Strength: |
Present |
Sex: |
Male |
Emaps: |
EMAPS:1876828 |
Pattern: |
Not Specified |
Stage: |
TS28 |
Assay Id: |
MGI:6691813 |
Age: |
postnatal adult |
Image: |
JAX_1374173 |
|
Specimen Label: |
JAX_1374173 |
Detected: |
true |
Specimen Num: |
17 |
|
•
•
•
•
•
|
GXD Expression |
|
Assay Type: |
In situ reporter (knock in) |
Annotation Date: |
2021-04-16 |
Strength: |
Present |
Sex: |
Female |
Emaps: |
EMAPS:3599828 |
Pattern: |
Not Specified |
Stage: |
TS28 |
Assay Id: |
MGI:6691813 |
Age: |
postnatal adult |
Image: |
JAX_1374164 |
|
Specimen Label: |
JAX_1374164 |
Detected: |
true |
Specimen Num: |
9 |
|
•
•
•
•
•
|
GXD Expression |
|
Assay Type: |
In situ reporter (knock in) |
Annotation Date: |
2021-04-16 |
Strength: |
Present |
Sex: |
Male |
Emaps: |
EMAPS:3273028 |
Pattern: |
Not Specified |
Stage: |
TS28 |
Assay Id: |
MGI:6691813 |
Age: |
postnatal adult |
Image: |
JAX_1374167 |
|
Specimen Label: |
JAX_1374167 |
Detected: |
true |
Specimen Num: |
11 |
|
•
•
•
•
•
|
GXD Expression |
|
Assay Type: |
In situ reporter (knock in) |
Annotation Date: |
2021-04-16 |
Strength: |
Present |
Sex: |
Male |
Emaps: |
EMAPS:1689428 |
Pattern: |
Not Specified |
Stage: |
TS28 |
Assay Id: |
MGI:6691813 |
Age: |
postnatal adult |
Image: |
JAX_1374178 |
|
Specimen Label: |
JAX_1374178 |
Detected: |
true |
Specimen Num: |
22 |
|
•
•
•
•
•
|
Publication |
First Author: |
Boylston JA |
Year: |
2015 |
Journal: |
J Mol Cell Cardiol |
Title: |
Characterization of the cardiac succinylome and its role in ischemia-reperfusion injury. |
Volume: |
88 |
|
Pages: |
73-81 |
|
•
•
•
•
•
|
Publication |
First Author: |
Fujiwara H |
Year: |
2021 |
Journal: |
Nat Immunol |
Title: |
Mitochondrial complex II in intestinal epithelial cells regulates T cell-mediated immunopathology. |
Volume: |
22 |
Issue: |
11 |
Pages: |
1440-1451 |
|
•
•
•
•
•
|
Publication |
First Author: |
Pagliarini DJ |
Year: |
2008 |
Journal: |
Cell |
Title: |
A mitochondrial protein compendium elucidates complex I disease biology. |
Volume: |
134 |
Issue: |
1 |
Pages: |
112-23 |
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2002 |
|
Title: |
Function or Process or Component Unknown following Literature Review |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Koscielny G |
Year: |
2014 |
Journal: |
Nucleic Acids Res |
Title: |
The International Mouse Phenotyping Consortium Web Portal, a unified point of access for knockout mice and related phenotyping data. |
Volume: |
42 |
Issue: |
Database issue |
Pages: |
D802-9 |
|
•
•
•
•
•
|
Publication |
First Author: |
International Knockout Mouse Consortium |
Year: |
2014 |
Journal: |
Database Download |
Title: |
MGI download of modified allele data from IKMC and creation of new knockout alleles |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Lennon G |
Year: |
1999 |
Journal: |
Database Download |
Title: |
WashU-HHMI Mouse EST Project |
|
|
|
|
•
•
•
•
•
|
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: |
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: |
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: |
MGD Nomenclature Committee |
Year: |
1995 |
|
Title: |
Nomenclature Committee Use |
|
|
|
|
•
•
•
•
•
|
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: |
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: |
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: |
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: |
Mouse Genome Informatics Scientific Curators |
Year: |
2002 |
|
Title: |
Mouse Genome Informatics Computational Sequence to Gene Associations |
|
|
|
|
•
•
•
•
•
|
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). |
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Publication |
First Author: |
MGI Genome Annotation Group and UniGene Staff |
Year: |
2015 |
Journal: |
Database Download |
Title: |
MGI-UniGene Interconnection Effort |
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Publication |
First Author: |
Marc Feuermann, Huaiyu Mi, Pascale Gaudet, Dustin Ebert, Anushya Muruganujan, Paul Thomas |
Year: |
2010 |
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Title: |
Annotation inferences using phylogenetic trees |
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Publication |
First Author: |
Mouse Genome Database and National Center for Biotechnology Information |
Year: |
2000 |
Journal: |
Database Release |
Title: |
Entrez Gene Load |
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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 |
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Publication |
First Author: |
Mouse Genome Informatics (MGI) and The National Center for Biotechnology Information (NCBI) |
Year: |
2010 |
Journal: |
Database Download |
Title: |
Consensus CDS project |
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Publication |
First Author: |
Mouse Genome Informatics Group |
Year: |
2003 |
Journal: |
Database Procedure |
Title: |
Automatic Encodes (AutoE) Reference |
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Publication |
First Author: |
Bairoch A |
Year: |
1999 |
Journal: |
Database Release |
Title: |
SWISS-PROT Annotated protein sequence database |
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Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2005 |
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Title: |
Obtaining and Loading Genome Assembly Coordinates from Ensembl Annotations |
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Publication |
First Author: |
Mouse Genome Informatics |
Year: |
2010 |
Journal: |
Database Release |
Title: |
Protein Ontology Association Load. |
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Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2005 |
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Title: |
Obtaining and loading genome assembly coordinates from NCBI annotations |
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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 |
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Publication |
First Author: |
Maio N |
Year: |
2016 |
Journal: |
Cell Metab |
Title: |
Disease-Causing SDHAF1 Mutations Impair Transfer of Fe-S Clusters to SDHB. |
Volume: |
23 |
Issue: |
2 |
Pages: |
292-302 |
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Publication |
First Author: |
Ohlenbusch A |
Year: |
2012 |
Journal: |
Orphanet J Rare Dis |
Title: |
Leukoencephalopathy with accumulated succinate is indicative of SDHAF1 related complex II deficiency. |
Volume: |
7 |
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Pages: |
69 |
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Protein |
Organism: |
Mus musculus/domesticus |
Length: |
118
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Fragment?: |
false |
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Publication |
First Author: |
Na U |
Year: |
2014 |
Journal: |
Cell Metab |
Title: |
The LYR factors SDHAF1 and SDHAF3 mediate maturation of the iron-sulfur subunit of succinate dehydrogenase. |
Volume: |
20 |
Issue: |
2 |
Pages: |
253-66 |
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Gene |
Type: |
gene |
Organism: |
human |
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Gene |
Type: |
gene |
Organism: |
human |
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Gene |
Type: |
gene |
Organism: |
human |
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DO Term |
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Publication |
First Author: |
Ghezzi D |
Year: |
2009 |
Journal: |
Nat Genet |
Title: |
SDHAF1, encoding a LYR complex-II specific assembly factor, is mutated in SDH-defective infantile leukoencephalopathy. |
Volume: |
41 |
Issue: |
6 |
Pages: |
654-6 |
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Protein Domain |
Type: |
Domain |
Description: |
SDHAF1, also called LYRM8, is a LYR complex-II specific assembly factor that plays an essential role in the assembly of succinate dehydrogenase (SDH), an enzyme complex (also referred to as respiratory complex II) that is a component of both the tricarboxylic acid (TCA) cycle and the mitochondrial electron transport chain, and which couples the oxidation of succinate to fumarate with the reduction of ubiquinone (coenzyme Q) to ubiquinol. It promotes maturation of the iron-sulfur protein subunit SDHB of the SDH catalytic dimer, protecting it from the deleterious effects of oxidants []. SDHAF1 may act together with SDHAF3 []. It is mutated in SDH-defective infantile leukoencephalopathy [, ]. SDHAF1 belongs to the Complex1_LYR-like superfamily that consists of proteins of diverse functions that are exclusively found in eukaryotes and contain the conserved tripeptide 'LYR' close to the N terminus. |
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