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 1. Orthologous to human NIPBL (NIPBL cohesin loading factor).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
4 figures from 2 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
1 Figure from Muto et al., 2011
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With nipbla Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
Cornelia de Lange syndrome 1 Alliance Cornelia de Lange syndrome 1 122470
Associated With nipbla Via Experimental Models
No data available
Gene Ontology
Protein Domains
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:F5HSE3 2381
UniProtKB:A0A0R4IGM2 2382
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
Name Type Antigen Genes Isotype Host Organism Assay Source Citations
Ab1-nipbla Rabbit
  • WB
1
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations