HEPH - hephaestin Gene

Homo sapiens

Also known as CPL

Gene ID: 9843 | Gene type: protein coding

About HEPH

Cytogenetic location: Xq12 Genomic coordinates (GRCh38): X:66,162,671-66,268,863 (from NCBI)

This gene has 17 transcripts (splice variants), 194 orthologues and 35 paralogues. Broad expression in small intestine (RPKM 39.0), colon (RPKM 38.6) and 16 other tissues.

Summary

This gene encodes a member of the multicopper oxidase protein family. The encoded protein is involved in the transport of dietary iron from epithelial cells of the intestinal lumen into the circulatory system, and may be involved in copper transport and homeostasis. In mouse, defects in this gene can lead to severe microcytic anemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]

HEPH Products(14)

mRNA	Protein	Name
NM_001130860.6	NP_001124332.2	hephaestin isoform c precursor
NM_001282141.3	NP_001269070.2	hephaestin isoform d precursor
NM_001367232.3	NP_001354161.2	hephaestin isoform a precursor
NM_001367233.3	NP_001354162.2	hephaestin isoform a precursor
NM_001367234.3	NP_001354163.2	hephaestin isoform a precursor
NM_001367236.3	NP_001354165.2	hephaestin isoform f precursor
NM_001367238.3	NP_001354167.2	hephaestin isoform g precursor
NM_001367239.3	NP_001354168.2	hephaestin isoform h precursor
NM_001367240.3	NP_001354169.2	hephaestin isoform i precursor
NM_001367241.3	NP_001354170.2	hephaestin isoform j precursor
NM_001367242.2	NP_001354171.1	hephaestin isoform b
NM_001367243.3	NP_001354172.2	hephaestin isoform k precursor
NM_014799.4	NP_055614.1	hephaestin isoform b
NM_138737.6	NP_620074.4	hephaestin isoform a precursor

HEPH Protein Structure

Cu-oxidase_3

Cu-oxidase_2

0
200
400
600
800
1000
1158 a.a.

Protein Preferred Names

Protein Names

hephaestin

Related Diseases

Diseases

Alias

Hemochromatosis, Type 1

Hemochromatosis	Hemochromatosis Type 1
Hereditary Hemochromatosis	Hh
HFE1	Hfe Hemochromatosis, Modifier Of
Symptomatic Form Of Classic Hemochromatosis	Symptomatic Form Of Hemochromatosis Type 1
Symptomatic Form Of Hfe-Related Hereditary Hemochromatosis	Haemochromatosis
Iron Storage Disorder	Bronze Diabetes
Hereditary Haemochromatosis	Hlah
Hfe	Hemochromatosis, Hereditary
Diabetes Bronze	Classic Hemochromatosis
Hfe-Associated Hereditary Hemochromatosis	Hemochromatosis Classic
Bronzed Cirrhosis	Familial Hemochromatosis
Genetic Hemochromatosis	Hc
Pigmentary Cirrhosis	Primary Hemochromatosis
Troisier-Hanot-Chauffard Syndrome	Von Recklenhausen-Applebaum Disease
Hemochromatosis 1	Primary Hereditary Hemochromatosis
Bronze Cirrhosis

Iron Metabolism Disease

Iron Deficiency	Iron Disorder
Iron Metabolism Disorders	Disorder Of Iron Metabolism
Iron	Fe Deficiency
Iron Storage Disease	Iron Storage Disorder

Microcytic Anemia

Iron-Refractory Iron Deficiency Anemia

Iron Deficiency Anemia

Iron-Deficiency Anemia	Fe Deficiency Anaemia
Ida - [Iron Deficiency Anemia]	Fe - [Iron] Deficiency Anemia Nos

Deficiency Anemia

Anemia	Deficiency Anemias
Anaemia

Retinal Degeneration

Degeneration Of Retina

Dirofilariasis

Dirofilaria Infectious Disease

Infection By Dirofilaria

Pharynx Squamous Cell Carcinoma

Metal Metabolism Disorder

Metal Metabolism, Inborn Errors

Inborn Metal Metabolism Disorder

Aceruloplasminemia

Cerebellar Ataxia	Hypoceruloplasminemia
Hemosiderosis, Systemic, Due To Aceruloplasminemia	Familial Apoceruloplasmin Deficiency
Hereditary Ceruloplasmin Deficiency	Deficiency Of Ferroxidase
Hypoceruloplasminemia, Hereditary	Ceruloplasmin Deficiency
Systemic Hemosiderosis Due To Aceruloplasminemia	ACERULOP

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

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS06124	HEPH Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	HEPH	RGD	RGD:71060
Bos taurus	HEPH	VGNC	VGNC:29812
Mus musculus	HEPH	MGD	MGI:1332240
Canis familiaris	HEPH	VGNC	VGNC:41659
Macaca mulatta	HEPH	VGNC	VGNC:73363
Felis catus	HEPH	VGNC	VGNC:67554
Others	HEPH	NCBI