ZFIN is now using GRCz12tu for Genomic Data
Gene
hephl1a
- ID
- ZDB-GENE-070801-4
- Name
- hephaestin-like 1a
- Symbol
- hephl1a Nomenclature History
- Previous Names
-
- hephl1
- zgc:165649
- Type
- protein_coding_gene
- Location
- Chr: 15 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. Is expressed in integument. Orthologous to human HEPHL1 (hephaestin like 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 3 figures from 2 publications
- 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 | IPR024715 | Coagulation factor 5/8-like |
| Family | IPR045087 | Multicopper oxidase |
| Homologous_superfamily | IPR008972 | Cupredoxin |
Domain Details Per Protein
| Protein | Additional Resources | Length | Coagulation factor 5/8-like | Cupredoxin | Multicopper oxidase | Multicopper oxidase, copper-binding site | Multicopper oxidase, C-terminal | Multicopper oxidase-like, N-terminal | Multicopper oxidases, conserved site |
|---|---|---|---|---|---|---|---|---|---|
| UniProtKB:X1WD76 | InterPro | 1094 | |||||||
| UniProtKB:A0A8M3APH1 | InterPro | 1082 |
- Genome Browsers
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
hephl1a-201
(1)
|
Ensembl | 1,974 nt | ||
| mRNA |
hephl1a-203
(1)
|
Ensembl | 5,525 nt | ||
| mRNA |
hephl1a-204
(1)
|
Ensembl | 3,783 nt | ||
| ncRNA |
hephl1a-002
(1)
|
Ensembl | 684 nt |
Interactions and Pathways
No data available
Plasmids
No data available
- Genome Browsers