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 enable ferroxidase activity. Predicted to be involved in iron ion homeostasis and iron ion transport. Predicted to act upstream of or within copper ion transport. Predicted to be active in plasma membrane. Orthologous to several human genes including 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