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

Predicted to have chromatin binding activity. Involved in digestive tract development; embryonic morphogenesis; and transcriptional activation by promoter-enhancer looping. Predicted to localize to Scc2-Scc4 cohesin loading complex and nuclear chromatin. Human ortholog(s) of this gene implicated in Cornelia de Lange syndrome 1. Is expressed in Kupffer's vesicle; blastoderm; blastodisc; head; and lateral plate mesoderm. 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

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

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