| Type |
Details |
Score |
| Protein Domain |
| Type: |
Domain |
| Description: |
This entry represents the C-terminal domain of protein UNC80 from eukaryotes, a component of the NALCN sodium channel complex. NALC is a cation voltage-independent channel activated by substance P, neurotensin, acetylcholine and noradrenaline that controls neuronal excitability. UNC80 forms a complex with UNC79 and both are key regulators of the channel and required for the proper expression and axonal localisation of NALCN. UNC80 is required for NALCN control by GPCRs and essential for its sensitivity to extracellular calcium. This protein acts as a scaffold for Src family of tyrosine kinases (SFK) and UNC-79 to mediate interaction with NALCN [, , ]. |
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•
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| HT Experiment |
| Series Id: |
E-GEOD-78521 |
| Experiment Type: |
RNA-Seq |
| Study Type: |
Baseline |
| Source: |
GEO |
|
•
•
•
•
•
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| Publication |
| First Author: |
Bayat A |
| Year: |
2023 |
| Journal: |
Genet Med |
| Title: |
A new neurodevelopmental disorder linked to heterozygous variants in UNC79. |
| Volume: |
25 |
| Issue: |
9 |
| Pages: |
100894 |
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•
•
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•
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| Protein |
| Organism: |
Mus musculus/domesticus |
| Length: |
2596
 |
| Fragment?: |
false |
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•
•
•
•
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| Protein |
| Organism: |
Mus musculus/domesticus |
| Length: |
2461
 |
| Fragment?: |
true |
|
•
•
•
•
•
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| Protein Coding Gene |
| Type: |
protein_coding_gene |
| Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
| Protein Coding Gene |
| Type: |
protein_coding_gene |
| Organism: |
Mus caroli |
|
•
•
•
•
•
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| 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 |
|
•
•
•
•
•
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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 |
|
•
•
•
•
•
|
| 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 |
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•
•
•
•
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| Protein Coding Gene |
| Type: |
protein_coding_gene |
| Organism: |
Mus spretus |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Speca DJ |
| Year: |
2010 |
| Journal: |
PLoS Genet |
| Title: |
Conserved role of unc-79 in ethanol responses in lightweight mutant mice. |
| Volume: |
6 |
| Issue: |
8 |
|
|
•
•
•
•
•
|
| Publication |
| First Author: |
Martiszus BJ |
| Year: |
2021 |
| Journal: |
Elife |
| Title: |
Enhanced excitability of cortical neurons in low-divalent solutions is primarily mediated by altered voltage-dependence of voltage-gated sodium channels. |
| Volume: |
10 |
|
|
|
•
•
•
•
•
|
| Publication |
| First Author: |
Stray-Pedersen A |
| Year: |
2016 |
| Journal: |
Am J Hum Genet |
| Title: |
Biallelic Mutations in UNC80 Cause Persistent Hypotonia, Encephalopathy, Growth Retardation, and Severe Intellectual Disability. |
| Volume: |
98 |
| Issue: |
1 |
| Pages: |
202-9 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Nakayama M |
| Year: |
2006 |
| Journal: |
FASEB J |
| Title: |
A gene-targeting approach for functional characterization of KIAA genes encoding extremely large proteins. |
| Volume: |
20 |
| Issue: |
10 |
| Pages: |
1718-20 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Speca DJ |
| Year: |
2006 |
| Journal: |
Genes Brain Behav |
| Title: |
A genetic screen for behavioral mutations that perturb dopaminergic homeostasis in mice. |
| Volume: |
5 |
| Issue: |
1 |
| Pages: |
19-28 |
|
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•
•
•
•
|
| Publication |
| First Author: |
Strausberg RL |
| Year: |
2002 |
| Journal: |
Proc Natl Acad Sci U S A |
| Title: |
Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |
| Volume: |
99 |
| Issue: |
26 |
| Pages: |
16899-903 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Mouse Genome Informatics Scientific Curators |
| Year: |
2002 |
|
| Title: |
MGC Data curation in Mouse Genome Informatics |
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•
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•
•
•
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| 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) |
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•
•
•
•
•
|
| Publication |
| First Author: |
Blackshaw S |
| Year: |
2004 |
| Journal: |
PLoS Biol |
| Title: |
Genomic analysis of mouse retinal development. |
| Volume: |
2 |
| Issue: |
9 |
| Pages: |
E247 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Mouse Genome Informatics Scientific Curators |
| Year: |
2002 |
|
| Title: |
Mouse Genome Informatics Computational Sequence to Gene Associations for FANTOM2 data |
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•
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•
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| 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 |
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•
•
•
•
•
|
| Publication |
| First Author: |
Mouse Genome Informatics Scientific Curators |
| Year: |
2002 |
|
| Title: |
Chromosome assignment of mouse genes using the Mouse Genome Sequencing Consortium (MGSC) assembly and the ENSEMBL Database |
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•
•
•
•
•
|
| 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: |
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: |
MGI Genome Annotation Group and UniGene Staff |
| Year: |
2015 |
| Journal: |
Database Download |
| Title: |
MGI-UniGene Interconnection Effort |
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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 |
| Pages: |
2121-7 |
|
•
•
•
•
•
|
| 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 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Mouse Genome Informatics Scientific Curators |
| Year: |
2003 |
|
| Title: |
Data Curation Using Mouse Genome Assembly |
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•
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