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

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 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

Expression

All Expression Data

3 figures from 2 publications

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 hephl1a Human Ortholog

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

Associated With hephl1a 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	IPR024715	Coagulation factor 5/8-like
Family	IPR045087	Multicopper oxidase
Homologous_superfamily	IPR008972	Cupredoxin

Domain Details Per Protein

Protein	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

Transcripts

Genome Browsers

Type	Name	Annotation Method	Length (nt)	Analysis
mRNA	hephl1a-201 (1) Ensembl	Ensembl	1,974 nt	Select Tool ZFIN BLAST
mRNA	hephl1a-203 (1) Ensembl	Ensembl	5,525 nt	Select Tool ZFIN BLAST
mRNA	hephl1a-204 (1) Ensembl	Ensembl	3,783 nt	Select Tool ZFIN BLAST
ncRNA	hephl1a-002 (1) Ensembl	Ensembl	684 nt	Select Tool ZFIN BLAST

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