hephl1b

ID

ZDB-GENE-091204-388

Name

hephaestin-like 1b

Symbol

hephl1b Nomenclature History

Previous Names

si:ch73-60g14.1
si:ch73-60g14.3
si:ch73-60g14.4

Type

protein_coding_gene

Location

Chr: 10 Mapping Details/Browsers

Genome Assembly

GRCz12tu

Annotation Status

Current

Description

Predicted to enable ferroxidase activity. Predicted to be involved in monoatomic ion transport. Predicted to be located in membrane. Predicted to be active in plasma membrane. Orthologous to several human genes including HEPHL1 (hephaestin like 1).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

No data available

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: No data available
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With hephl1b Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
		?Abnormal hair, joint laxity, and developmental delay	261990

Associated With hephl1b Via Experimental Models

No data available

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Binding_site	IPR002355	Multicopper oxidase, copper-binding site
Conserved_site	IPR033138	Multicopper oxidases, conserved site
Domain	IPR011706	Multicopper oxidase, C-terminal
Domain	IPR011707	Multicopper oxidase-like, N-terminal
Family	IPR045087	Multicopper oxidase
Homologous_superfamily	IPR008972	Cupredoxin