Gene
nipbla
- ID
- ZDB-GENE-060526-121
- Name
- NIPBL cohesin loading factor a
- Symbol
- nipbla Nomenclature History
- Previous Names
-
- si:ch211-234b6.2 (1)
- si:ch73-311f13.1
- Type
- protein_coding_gene
- Location
- Chr: 5 Mapping Details/Browsers
- Description
- Enables chromatin loop anchoring activity. Acts upstream of or within digestive tract development and embryonic morphogenesis. Predicted to be located in nucleus. Predicted to be part of Scc2-Scc4 cohesin loading complex. Is expressed in Kupffer's vesicle; blastoderm; blastodisc; head; and lateral plate mesoderm. 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
- 4 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 1 Figure from Muto et al., 2011
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| ihb274 | Allele with one deletion | Exon 3 | Unknown | CRISPR | |
| ihb275 | Allele with one delins | Unknown | Unknown | CRISPR | |
| ihb276 | Allele with one insertion | Exon 16 | Unknown | CRISPR | |
| ihb277 | Allele with one delins | Exon 16 | Unknown | CRISPR | |
| sa1954 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa8770 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| zf3875 | unknown | Unknown | Unknown | CRISPR |
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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 |
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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 |
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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:A0A0R4IGM2
|
2382 | |||||
|
UniProtKB:F5HSE3
|
2381 |
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| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
nipbla-201
(1)
|
Ensembl | 8,317 nt |
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Interactions and Pathways
No data available
| Name | Type | Antigen Genes | Isotype | Host Organism | Assay | Source | Citations |
|---|---|---|---|---|---|---|---|
| Ab1-nipbla | Rabbit |
|
1 |
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Plasmids
No data available
No data available
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | CH73-74D12 | ZFIN Curated Data | |
| Contained in | BAC | CH73-311F13 | ZFIN Curated Data | |
| Contained in | BAC | CH211-234B6 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001246284 (1) | |||
| Genomic | GenBank:BX510907 | 154591 nt | ||
| Polypeptide | UniProtKB:A0A0R4IGM2 (1) | 2382 aa |
- LaCoursiere, C.M., Ullmann, J.F.P., Koh, H.Y., Turner, L., Baker, C.M., Robens, B., Shao, W., Rotenberg, A., McGraw, C.M., Poduri, A.H. (2024) Zebrafish models of candidate human epilepsy-associated genes provide evidence of hyperexcitability. iScience. 27:110172110172
- Gu, W., Wang, L., Gu, R., Ouyang, H., Bao, B., Zheng, L., Xu, B. (2021) Defects of cohesin loader lead to bone dysplasia associated with transcriptional disturbance. Journal of Cellular Physiology. 236(12):8208-8225
- Raman, R., Fallatah, W., Al Qaryoute, A., Dhinoja, S., Jagadeeswaran, P. (2021) Knockdown screening of chromatin binding and regulatory proteins in zebrafish identified Suz12b as a regulator of tfpia and an antithrombotic drug target. Scientific Reports. 11:15238
- Kawauchi, S., Santos, R., Muto, A., Lopez-Burks, M.E., Schilling, T.F., Lander, A.D., Calof, A.L. (2016) Using mouse and zebrafish models to understand the etiology of developmental defects in Cornelia de Lange Syndrome. American journal of medical genetics. Part C, Seminars in medical genetics. 172(2):138-45
- Xu, B., Sowa, N., Cardenas, M.E., Gerton, J.L. (2015) L-leucine partially rescues translational and developmental defects associated with zebrafish models of Cornelia de Lange syndrome. Human molecular genetics. 24(6):1540-55
- Muto, A., Ikeda, S., Lopez-Burks, M.E., Kikuchi, Y., Calof, A.L., Lander, A.D., Schilling, T.F. (2014) Nipbl and Mediator Cooperatively Regulate Gene Expression to Control Limb Development. PLoS Genetics. 10:e1004671
- Khodiyar, V.K., Howe, D., Talmud, P.J., Breckenridge, R., Lovering, R.C. (2013) From zebrafish heart jogging genes to mouse and human orthologs: using Gene Ontology to investigate mammalian heart development.. F1000 Research. 2:1-17
- Muto, A., Calof, A.L., Lander, A.D., and Schilling, T.F. (2011) Multifactorial Origins of Heart and Gut Defects in nipbl-Deficient Zebrafish, a Model of Cornelia de Lange Syndrome. PLoS Biology. 9(10):e1001181
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