Gene
nipblb
- ID
- ZDB-GENE-030131-6070
- Name
- NIPBL cohesin loading factor b
- Symbol
- nipblb Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 10 Mapping Details/Browsers
- Description
- Enables chromatin loop anchoring activity. Acts upstream of or within several processes, including embryonic morphogenesis; neuron cellular homeostasis; and regulation of canonical Wnt signaling pathway. Predicted to be located in nucleus. Predicted to be part of Scc2-Scc4 cohesin loading complex. Is expressed in several structures, including Kupffer's vesicle; blastoderm; blastodisc; central nervous system; and lateral plate mesoderm. Used to study Cornelia de Lange syndrome. Human ortholog(s) of this gene implicated in Cornelia de Lange syndrome and Cornelia de Lange syndrome 1. Orthologous to human NIPBL (NIPBL cohesin loading factor).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 6 figures from 4 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 11 figures from 4 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Cornelia de Lange syndrome 1 | Alliance | Cornelia de Lange syndrome 1 | 122470 |
| Human Disease | Fish | Conditions | Citations |
|---|---|---|---|
| Cornelia de Lange syndrome | AB + MO3-nipblb | standard conditions | Pistocchi et al., 2013 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR024986 | Sister chromatid cohesion C-terminal domain |
| Family | IPR033031 | Scc2/Nipped-B family |
| Homologous_superfamily | IPR011989 | Armadillo-like helical |
| Homologous_superfamily | IPR016024 | Armadillo-type fold |
| Repeat | IPR026003 | HEAT repeat associated with sister chromatid cohesion protein |
Domain Details Per Protein
| Protein | Length | Armadillo-like helical | Armadillo-type fold | HEAT repeat associated with sister chromatid cohesion protein | Scc2/Nipped-B family | Sister chromatid cohesion C-terminal domain |
|---|---|---|---|---|---|---|
|
UniProtKB:A0A8M3B6H6
|
2886 | |||||
|
UniProtKB:F1QBY1
|
2876 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
nipblb-201
(1)
|
Ensembl | 9,367 nt | ||
| mRNA |
nipblb-202
(1)
|
Ensembl | 9,738 nt | ||
| ncRNA |
nipblb-002
(1)
|
Ensembl | 753 nt |
Interactions and Pathways
No data available
| Name | Type | Antigen Genes | Isotype | Host Organism | Assay | Source | Citations |
|---|---|---|---|---|---|---|---|
| Ab1-nipblb | Rabbit |
|
1 |
Plasmids
No data available