HEPHL1 - hephaestin like 1 Gene

Homo sapiens

Also known as ZP; HJDD

Gene ID: 341208 | Gene type: protein coding

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

HEPHL1 Protein Structure

Cu-oxidase_3

Cu-oxidase_2

Cu-oxidase_3

Cu-oxidase_2

0
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400
600
800
1000
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

Bioactive Molecules (1)

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

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