Gene

creld1b

ID
ZDB-GENE-161219-1
Name
CRELD disulfide isomerase 1b
Symbol
creld1b Nomenclature History
Previous Names
None
Type
protein_coding_gene
Location
Chr: 8 Mapping Details/Browsers
Description
Predicted to enable calcium ion binding activity and protein disulfide isomerase activity. Predicted to be located in membrane.
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
No data available
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
No data available
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With creld1b Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
Atrioventricular septal defect, partial, with heterotaxy syndrome 606217
Jeffries-Lakhani neurodevelopmental syndrome 620771
{Atrioventricular septal defect, susceptibility to, 2} 606217
Associated With creld1b Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Conserved_site IPR018097 EGF-like calcium-binding, conserved site
Domain IPR000742 EGF-like domain
Domain IPR001881 EGF-like calcium-binding domain
Domain IPR002049 Laminin-type EGF domain
Domain IPR021852 Domain of unknown function DUF3456
Domain IPR049883 NOTCH1 EGF-like calcium-binding domain
Family IPR050751 Extracellular matrix structural protein
Homologous_superfamily IPR009030 Growth factor receptor cysteine-rich domain superfamily
PTM IPR000152 EGF-type aspartate/asparagine hydroxylation site
Repeat IPR006212 Furin-like repeat
Domain Details Per Protein
Protein Additional Resources Length Domain of unknown function DUF3456 EGF-like calcium-binding, conserved site EGF-like calcium-binding domain EGF-like domain EGF-type aspartate/asparagine hydroxylation site Extracellular matrix structural protein Furin-like repeat Growth factor receptor cysteine-rich domain superfamily Laminin-type EGF domain NOTCH1 EGF-like calcium-binding domain
UniProtKB:E7F4A7 InterPro
UniProtKB:A0A8M3AVN2 InterPro 400
Transcripts
Genome Browsers
Type Name Annotation Method Has Havana Data Length (nt) Analysis
mRNA creld1-201 (1) Ensembl 1,221 nt
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations