Type |
Details |
Score |
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 |
|
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|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics and the Wellcome Trust Sanger Institute Mouse Genetics Project (MGP) |
Year: |
2011 |
Journal: |
Database Release |
Title: |
Obtaining and Loading Phenotype Annotations from the Wellcome Trust Sanger Institute (WTSI) Mouse Resources Portal |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Ingham NJ |
Year: |
2019 |
Journal: |
PLoS Biol |
Title: |
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. |
Volume: |
17 |
Issue: |
4 |
Pages: |
e3000194 |
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2005 |
|
Title: |
Mouse Synonym Curation |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Hansen J |
Year: |
2003 |
Journal: |
Proc Natl Acad Sci U S A |
Title: |
A large-scale, gene-driven mutagenesis approach for the functional analysis of the mouse genome. |
Volume: |
100 |
Issue: |
17 |
Pages: |
9918-22 |
|
•
•
•
•
•
|
Publication |
First Author: |
Visel A |
Year: |
2004 |
Journal: |
Nucleic Acids Res |
Title: |
GenePaint.org: an atlas of gene expression patterns in the mouse embryo. |
Volume: |
32 |
Issue: |
Database issue |
Pages: |
D552-6 |
|
•
•
•
•
•
|
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: |
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: |
DDB, FB, MGI, GOA, ZFIN curators |
Year: |
2001 |
|
Title: |
Gene Ontology annotation through association of InterPro records with GO terms |
|
|
|
|
•
•
•
•
•
|
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: |
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: |
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: |
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: |
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: |
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: |
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 |
|
|
|
|
•
•
•
•
•
|
Allele |
Name: |
structural maintenance of chromosomes 3; targeted mutation 1.1, Toshihide Yamashita |
Allele Type: |
Targeted |
Attribute String: |
Conditional ready |
|
•
•
•
•
•
|
Allele |
Name: |
structural maintenance of chromosomes 3; endonuclease-mediated mutation 2, Shanghai Model Organisms Center |
Allele Type: |
Endonuclease-mediated |
Attribute String: |
Null/knockout |
|
•
•
•
•
•
|
Interaction Experiment |
Description: |
Quantitative analysis of cohesin complex stoichiometry and SMC3 modification-dependent protein interactions. |
|
•
•
•
•
•
|
Publication |
First Author: |
Revenkova E |
Year: |
2009 |
Journal: |
Hum Mol Genet |
Title: |
Cornelia de Lange syndrome mutations in SMC1A or SMC3 affect binding to DNA. |
Volume: |
18 |
Issue: |
3 |
Pages: |
418-27 |
|
•
•
•
•
•
|
Allele |
Name: |
structural maintenance of chromosomes 3; targeted mutation 1.2, Toshihide Yamashita |
Allele Type: |
Targeted |
Attribute String: |
Null/knockout |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Smc3/Smc3<+> |
Background: |
B6.Cg-Smc3 |
Zygosity: |
ht |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
DO Term |
|
•
•
•
•
•
|
Publication |
First Author: |
Gimigliano A |
Year: |
2012 |
Journal: |
J Proteome Res |
Title: |
Proteomic profile identifies dysregulated pathways in Cornelia de Lange syndrome cells with distinct mutations in SMC1A and SMC3 genes. |
Volume: |
11 |
Issue: |
12 |
Pages: |
6111-23 |
|
•
•
•
•
•
|
Strain |
Attribute String: |
coisogenic, endonuclease-mediated mutation, mutant strain |
|
•
•
•
•
•
|
Publication |
First Author: |
Ding C |
Year: |
2011 |
Journal: |
J Proteome Res |
Title: |
Quantitative analysis of cohesin complex stoichiometry and SMC3 modification-dependent protein interactions. |
Volume: |
10 |
Issue: |
8 |
Pages: |
3652-9 |
|
•
•
•
•
•
|
Allele |
Name: |
structural maintenance of chromosomes 3; endonuclease-mediated mutation 1, Shanghai Model Organisms Center |
Allele Type: |
Endonuclease-mediated |
Attribute String: |
Conditional ready, No functional change |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
612
 |
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
80
 |
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
612
 |
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
579
 |
Fragment?: |
false |
|
•
•
•
•
•
|
Publication |
First Author: |
Patel CA |
Year: |
2005 |
Journal: |
BMC Cell Biol |
Title: |
Hinderin, a five-domains protein including coiled-coil motifs that binds to SMC3. |
Volume: |
6 |
Issue: |
1 |
Pages: |
3 |
|
•
•
•
•
•
|
Protein Domain |
Type: |
Family |
Description: |
Protein hinderin shares structural similarity to the SMC family members. It interacts with SMC3 and may affect the availability of SMC3 to engage in the formation of multimeric protein complexes []. |
|
•
•
•
•
•
|
Strain |
Attribute String: |
coisogenic, endonuclease-mediated mutation, mutant strain |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Smc3/Smc3 |
Background: |
involves: C57BL/6J |
Zygosity: |
hm |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Nkx2-5/Nkx2-5<+> Smc3/Smc3<+> |
Background: |
involves: C57BL/6J |
Zygosity: |
cn |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Nkx2-5/Nkx2-5<+> Smc3/Smc3 |
Background: |
involves: C57BL/6J |
Zygosity: |
cn |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Publication |
First Author: |
Chatterjee A |
Year: |
2013 |
Journal: |
EMBO J |
Title: |
Structural insights into the regulation of cohesion establishment by Wpl1. |
Volume: |
32 |
Issue: |
5 |
Pages: |
677-87 |
|
•
•
•
•
•
|
Protein Domain |
Type: |
Domain |
Description: |
The Wapl domain is found at the C terminus of fungal Wpl1 proteins (also known as Rad61), which are subunits of a complex that inhibits sister chromatid cohesion. The Wapl domain binds to the ATPase domain of cohesin subunit Smc3 []. |
|
•
•
•
•
•
|
Protein Domain |
Type: |
Homologous_superfamily |
Description: |
The Wapl domain is found at the C terminus of fungal Wpl1 proteins (also known as Rad61), which are subunits of a complex that inhibits sister chromatid cohesion. The Wapl domain binds to the ATPase domain of cohesin subunit Smc3 []. |
|
•
•
•
•
•
|
GO Term |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
843
 |
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
843
 |
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
344
 |
Fragment?: |
false |
|
•
•
•
•
•
|
Publication |
First Author: |
Hou F |
Year: |
2005 |
Journal: |
Mol Biol Cell |
Title: |
Two human orthologues of Eco1/Ctf7 acetyltransferases are both required for proper sister-chromatid cohesion. |
Volume: |
16 |
Issue: |
8 |
Pages: |
3908-18 |
|
•
•
•
•
•
|
Publication |
First Author: |
Terret ME |
Year: |
2009 |
Journal: |
Nature |
Title: |
Cohesin acetylation speeds the replication fork. |
Volume: |
462 |
Issue: |
7270 |
Pages: |
231-4 |
|
•
•
•
•
•
|
Protein Domain |
Type: |
Domain |
Description: |
This entry represents the acetyl-transferase domain of the acetyl-transferase ESCO. N-acetyltransferase ESCO1 and ESCO2 are required for the establishment of sister chromatid cohesion and couple the processes of cohesion and DNA replication to ensure that only sister chromatids become paired together. They act by mediating the acetylation of cohesin component SMC3 []. They feature a conserved C-terminal domain consisting of a H2C2 zinc finger motif () and an acetyltransferase domain, while the diverse N-terminal domain is involved in chromosome binding and could target these proteins to different chromosome structures []. |
|
•
•
•
•
•
|
Protein Domain |
Type: |
Domain |
Description: |
This entry represents the zinc-inger domain of the acetyl-transferase ESCO. N-acetyltransferase ESCO1 and ESCO2 are required for the establishment of sister chromatid cohesion and couple the processes of cohesion and DNA replication to ensure that only sister chromatids become paired together. They act by mediating the acetylation of cohesin component SMC3 []. They feature a conserved C-terminal domain consisting of a H2C2 zinc finger motif and an acetyltransferase domain (), while the diverse N-terminal domain is involved in chromosome binding and could target these proteins to different chromosome structures []. |
|
•
•
•
•
•
|
Protein Domain |
Type: |
Family |
Description: |
N-acetyltransferase ESCO1 (also known as ECO1/EFO1) and ESCO2 are required for the establishment of sister chromatid cohesion and couple the processes of cohesion and DNA replication to ensure that only sister chromatids become paired together. They act by mediating the acetylation of cohesin component SMC3 []. They feature a conserved C-terminal domain consisting of a H2C2 zinc finger motif () and an acetyltransferase domain (), while the diverse N-terminal domain is involved in chromosome binding and could target these proteins to different chromosome structures [].This entry represents ESCO1. |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
592
 |
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
217
 |
Fragment?: |
false |
|
•
•
•
•
•
|
Publication |
First Author: |
Whelan G |
Year: |
2012 |
Journal: |
Nucleus |
Title: |
The non-redundant function of cohesin acetyltransferase Esco2: some answers and new questions. |
Volume: |
3 |
Issue: |
4 |
Pages: |
330-4 |
|
•
•
•
•
•
|
Publication |
First Author: |
Carretero M |
Year: |
2013 |
Journal: |
EMBO J |
Title: |
Pds5B is required for cohesion establishment and Aurora B accumulation at centromeres. |
Volume: |
32 |
Issue: |
22 |
Pages: |
2938-49 |
|
•
•
•
•
•
|
Protein Domain |
Type: |
Domain |
Description: |
The structural maintenance of chromosomes (SMC) proteins are large (approximately 110 to 170kDa), and each is arranged into five recognizable domains. Amino-acid sequence homology of SMC proteins between species is largely confined to the amino- and carboxy-terminal globular domains. The amino-terminal domain contains a 'WalkerA' nucleotide-binding domain (GxxGxGKS/T), which by mutational studies has been shown to be essential in several proteins. The carboxy-terminal domain contains a sequence (the DA-box) that resembles a 'Walker B' motif, and a motif with homology to the signature sequence of the ATP-binding cassette (ABC) family of ATPases. The sequence homology within the carboxy-terminal domain is relatively high within the SMC1-SMC4 group, whereas SMC5 and SMC6 show some divergence in both of these sequences. In eukaryotic cells, the proteins are found as heterodimers of SMC1 paired with SMC3, SMC2 with SMC4, and SMC5 with SMC6 [].This entry represents the ATP-binding cassette domain of eukaryotic SMC3 proteins, which is found at the N terminus. |
|
•
•
•
•
•
|
Publication |
First Author: |
Gonzales ML |
Year: |
2012 |
Journal: |
Mol Cell Biol |
Title: |
Phosphorylation of distinct sites in MeCP2 modifies cofactor associations and the dynamics of transcriptional regulation. |
Volume: |
32 |
Issue: |
14 |
Pages: |
2894-903 |
|
•
•
•
•
•
|
Publication |
First Author: |
McNicoll F |
Year: |
2020 |
Journal: |
Life Sci Alliance |
Title: |
Meiotic sex chromosome cohesion and autosomal synapsis are supported by Esco2. |
Volume: |
3 |
Issue: |
3 |
|
|
•
•
•
•
•
|
Publication |
First Author: |
Hu YJ |
Year: |
2018 |
Journal: |
Am J Transl Res |
Title: |
Renal proteomic analysis of RGC-32 knockout mice reveals the potential mechanism of RGC-32 in regulating cell cycle. |
Volume: |
10 |
Issue: |
3 |
Pages: |
847-856 |
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Publication |
First Author: |
Cheng J |
Year: |
2022 |
Journal: |
Cell Cycle |
Title: |
Knockout of cyclin B1 in granulosa cells causes female subfertility. |
Volume: |
21 |
Issue: |
17 |
Pages: |
1867-1878 |
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Publication |
First Author: |
Yazdi PT |
Year: |
2002 |
Journal: |
Genes Dev |
Title: |
SMC1 is a downstream effector in the ATM/NBS1 branch of the human S-phase checkpoint. |
Volume: |
16 |
Issue: |
5 |
Pages: |
571-82 |
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Publication |
First Author: |
Parenti I |
Year: |
2014 |
Journal: |
Epigenetics |
Title: |
Overall and allele-specific expression of the SMC1A gene in female Cornelia de Lange syndrome patients and healthy controls. |
Volume: |
9 |
Issue: |
7 |
Pages: |
973-9 |
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Publication |
First Author: |
Deardorff MA |
Year: |
2012 |
Journal: |
Nature |
Title: |
HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle. |
Volume: |
489 |
Issue: |
7415 |
Pages: |
313-7 |
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Publication |
First Author: |
Jessberger R |
Year: |
1993 |
Journal: |
J Biol Chem |
Title: |
A mammalian protein complex that repairs double-strand breaks and deletions by recombination. |
Volume: |
268 |
Issue: |
20 |
Pages: |
15070-9 |
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Publication |
First Author: |
Chao LF |
Year: |
2017 |
Journal: |
PLoS Genet |
Title: |
An SMC-like protein binds and regulates Caenorhabditis elegans condensins. |
Volume: |
13 |
Issue: |
3 |
Pages: |
e1006614 |
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Protein Domain |
Type: |
Family |
Description: |
Structural maintenance of chromosomes protein 1A (SMC1A) is a homologue of the yeast Smc1 protein, which is a component of the cohesin complex required for sister chromatid cohesion []. In human, it is part of the core cohesion complex composed of SMC1A, SMC3, RAD21 and STAG proteins []. These proteins form a ring structure that encircles sister chromatids to mediate sister chromatid cohesion []. SMC1A binds to SMC3 through its hinge domain []. Besides sister chromatid cohesion function, SMC1A-SMC3 heterodimer can also found in the RC-1 complex, a mammalian protein complex that promotes repair of DNA gaps and deletions through recombination [, ]. This entry also includes Smc1 homologue from Caenorhabditis elegans, SMCL-1. Unlike canonical SMC proteins, SMCL-1 lacks hinge and coil domains, and its ATPase domain lacks conserved amino acids required for ATP hydrolysis []. Mutations in SMC1A gene cause Cornelia de Lange syndrome 2 (CDLS2), which is a form of Cornelia de Lange syndrome, a clinically heterogeneous developmental disorder associated with malformations affecting multiple systems [, ]. |
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Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
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Publication |
First Author: |
Singh VP |
Year: |
2019 |
Journal: |
Reproduction |
Title: |
Oocyte-specific deletion of Hdac8 in mice reveals stage-specific effects on fertility. |
Volume: |
157 |
Issue: |
3 |
Pages: |
305-316 |
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Protein |
Organism: |
Mus musculus/domesticus |
Length: |
353
 |
Fragment?: |
true |
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Protein |
Organism: |
Mus musculus/domesticus |
Length: |
284
 |
Fragment?: |
true |
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Protein |
Organism: |
Mus musculus/domesticus |
Length: |
171
 |
Fragment?: |
true |
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Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
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Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
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Protein |
Organism: |
Mus musculus/domesticus |
Length: |
236
 |
Fragment?: |
true |
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