Gene
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
- Description
- Predicted to have ferroxidase activity. Predicted to be involved in iron ion homeostasis and iron ion transport. Predicted to localize to plasma membrane. Orthologous to human HEPHL1 (hephaestin like 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- No data available
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| ?Abnormal hair, joint laxity, and developmental delay | 261990 |
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 | IPR050633 | Neuropilin/Multicopper Oxidase/Coagulation Factor |
| Homologous_superfamily | IPR008972 | Cupredoxin |
Domain Details Per Protein
| Protein | Length | Cupredoxin | Multicopper oxidase, copper-binding site | Multicopper oxidase, C-terminal | Multicopper oxidase-like, N-terminal | Multicopper oxidases, conserved site | Neuropilin/Multicopper Oxidase/Coagulation Factor |
|---|---|---|---|---|---|---|---|
|
UniProtKB:A0A8M9PAB4
|
1086 | ||||||
|
UniProtKB:A0A8M9QCU6
|
1122 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
hephl1b-201
(1)
|
Ensembl | 3,723 nt |
Interactions and Pathways
No data available
Plasmids
No data available