Type |
Details |
Score |
HT Sample |
Organism Name: |
mouse, laboratory |
|
|
|
|
Notes: |
Smc1a binding |
Curation Status: |
Not curated (Different assay type) |
|
•
•
•
•
•
|
HT Sample |
Organism Name: |
mouse, laboratory |
|
|
|
|
Notes: |
Smc1a binding |
Curation Status: |
Not curated (Different assay type) |
|
•
•
•
•
•
|
HT Sample |
Organism Name: |
mouse, laboratory |
|
|
|
|
Notes: |
Smc1a binding |
Curation Status: |
Not curated (Different assay type) |
|
•
•
•
•
•
|
HT Sample |
Organism Name: |
mouse, laboratory |
|
|
|
|
Notes: |
Smc1a binding |
Curation Status: |
Not curated (Different assay type) |
|
•
•
•
•
•
|
HT Sample |
Organism Name: |
mouse, laboratory |
|
|
|
|
Notes: |
Smc1a binding |
Curation Status: |
Not curated (Different assay type) |
|
•
•
•
•
•
|
HT Sample |
Organism Name: |
mouse, laboratory |
|
|
|
|
Notes: |
Smc1a binding |
Curation Status: |
Not curated (Different assay type) |
|
•
•
•
•
•
|
HT Sample |
Organism Name: |
mouse, laboratory |
|
|
|
|
Notes: |
Smc1a binding |
Curation Status: |
Not curated (Different assay type) |
|
•
•
•
•
•
|
Publication |
First Author: |
Akagawa R |
Year: |
2021 |
Journal: |
Front Cell Dev Biol |
Title: |
Alternative Functions of Cell Cycle-Related and DNA Repair Proteins in Post-mitotic Neurons. |
Volume: |
9 |
|
Pages: |
753175 |
|
•
•
•
•
•
|
Publication |
First Author: |
Koss M |
Year: |
2012 |
Journal: |
Dev Cell |
Title: |
Congenital asplenia in mice and humans with mutations in a Pbx/Nkx2-5/p15 module. |
Volume: |
22 |
Issue: |
5 |
Pages: |
913-26 |
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2001 |
|
Title: |
RIKEN Data Curation in Mouse Genome Informatics |
|
|
|
|
•
•
•
•
•
|
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: |
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: |
Bedogni F |
Year: |
2021 |
Journal: |
Front Mol Neurosci |
Title: |
Cell-Type-Specific Gene Expression in Developing Mouse Neocortex: Intermediate Progenitors Implicated in Axon Development. |
Volume: |
14 |
|
Pages: |
686034 |
|
•
•
•
•
•
|
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: |
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: |
The Gene Ontology Consortium |
Year: |
2014 |
|
Title: |
Automated transfer of experimentally-verified manual GO annotation data to mouse-rat orthologs |
|
|
|
|
•
•
•
•
•
|
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: |
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: |
MGD Nomenclature Committee |
Year: |
1995 |
|
Title: |
Nomenclature Committee Use |
|
|
|
|
•
•
•
•
•
|
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: |
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: |
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: |
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 |
|
•
•
•
•
•
|
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 |
|
•
•
•
•
•
|
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 |
|
•
•
•
•
•
|
HT Experiment |
Series Id: |
GSE42237 |
Experiment Type: |
RNA-Seq |
Study Type: |
Baseline |
Source: |
ArrayExpress |
|
•
•
•
•
•
|
DO Term |
|
•
•
•
•
•
|
Allele |
Name: |
collagen, type I, alpha 1; targeted mutation 2, Iannis Aifantis |
Allele Type: |
Targeted |
Attribute String: |
Inducible, Knockdown, Reporter |
|
•
•
•
•
•
|
DO Term |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Col1a1/Col1a1<+> Gt(ROSA)26Sor/Gt(ROSA)26Sor<+> |
Background: |
involves: 129S4/SvJae * C57BL/6 |
Zygosity: |
cx |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Col1a1/Col1a1 Gt(ROSA)26Sor/Gt(ROSA)26Sor<+> |
Background: |
involves: 129S4/SvJae * C57BL/6 |
Zygosity: |
cx |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
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 |
|
•
•
•
•
•
|
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 |
|
•
•
•
•
•
|
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 |
|
•
•
•
•
•
|
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 |
|
•
•
•
•
•
|
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 [, ]. |
|
•
•
•
•
•
|
Publication |
First Author: |
Li Z |
Year: |
2017 |
Journal: |
Sci Adv |
Title: |
ASXL1 interacts with the cohesin complex to maintain chromatid separation and gene expression for normal hematopoiesis. |
Volume: |
3 |
Issue: |
1 |
Pages: |
e1601602 |
|
•
•
•
•
•
|
Publication |
First Author: |
Chatzinikolaou G |
Year: |
2023 |
Journal: |
Sci Adv |
Title: |
XPF interacts with TOP2B for R-loop processing and DNA looping on actively transcribed genes. |
Volume: |
9 |
Issue: |
45 |
Pages: |
eadi2095 |
|
•
•
•
•
•
|
HT Experiment |
|
Experiment Type: |
RNA-Seq |
Study Type: |
Baseline |
Source: |
GEO |
|
•
•
•
•
•
|
Publication |
First Author: |
Mullenders J |
Year: |
2015 |
Journal: |
J Exp Med |
Title: |
Cohesin loss alters adult hematopoietic stem cell homeostasis, leading to myeloproliferative neoplasms. |
Volume: |
212 |
Issue: |
11 |
Pages: |
1833-50 |
|
•
•
•
•
•
|
Publication |
First Author: |
Ou MY |
Year: |
2020 |
Journal: |
Development |
Title: |
Heterogeneous nuclear ribonucleoprotein A3 controls mitotic progression of neural progenitors via interaction with cohesin. |
Volume: |
147 |
Issue: |
10 |
|
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
236
 |
Fragment?: |
true |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
831
 |
Fragment?: |
true |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
679
 |
Fragment?: |
true |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
1233
 |
Fragment?: |
false |
|
•
•
•
•
•
|
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 |
Pages: |
2121-7 |
|
•
•
•
•
•
|