HEPHL1 - hephaestin like 1 Gene

Also Known as ZP; HJDD

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 341208

About HEPHL1

Cytogenetic location: 11q21 Genomic coordinates (GRCh38): 11:94,021,354-94,114,208 (from NCBI)

This gene has 1 transcript (splice variant), 178 orthologues, 35 paralogues and is associated with 1 phenotype. Biased expression in esophagus (RPKM 1.6), testis (RPKM 0.2) and 2 other tissues.

Summary

Enables ferroxidase activity. Involved in cellular iron ion homeostasis. Predicted to be integral component of membrane. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]

HEPHL1 Products (1)

mRNA	Protein	Name
NM_001098672.2	NP_001092142.1	ferroxidase HEPHL1 precursor

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	References	Source
enables ferroxidase activity	IDA IDA: Inferred from direct assay	20685892	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in intracellular iron ion homeostasis	IMP IMP: Inferred from mutant phenotype	31125343	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

HEPHL1 Protein Structure

Cu-oxidase_3

Cu-oxidase_2

Cu-oxidase_3

Cu-oxidase_2

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400
600
800
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1159 a.a.

Protein Preferred Names	Protein Names
ferroxidase HEPHL1	hephaestin-like protein 1

Related Diseases

Diseases	Alias
Abnormal Hair, Joint Laxity, And Developmental Delay	Pili Torti And Developmental Delay Pili Torti-Developmental Delay-Neurological Abnormalities Syndrome HJDD Pili Torti Developmental Delay Neurological Abnormalities
Articulation Disorder	Phonological Disorder Articulation Disorders Articulation Impairment Speech Sound Disorders
Congenital Fiber-Type Disproportion	Congenital Fiber Type Disproportion Cftdm Congenital Myopathy With Fiber Type Disproportion Cftd Congenital Fiber-Type Disproportion Myopathy Fiber-Type Disproportion Myopathy, Congenital Myopathy, Congenital With Fiber-Type Disproportion

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS06125	HEPHL1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	HEPHL1	VGNC	VGNC:41660
Rattus norvegicus	HEPHL1	RGD	RGD:1564835
Macaca mulatta	HEPHL1	VGNC	VGNC:101092
Mus musculus	HEPHL1	MGD	MGI:2685355
Bos taurus	HEPHL1	VGNC	VGNC:29813
Felis catus	HEPHL1	VGNC	VGNC:62798
Others	HEPHL1	NCBI