HEPH - hephaestin Gene

Also Known as CPL

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 9843

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

Gene Ontology

  • Molecular Function
  • Cellular Component
Molecular Function GO Annotation Evidence References Source
enables ferroxidase activity IDA
IDA: Inferred from direct assay
22961397 GOA
enables ferroxidase activity IMP
IMP: Inferred from mutant phenotype
22961397 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
32296183 GOA
Cellular Component GO Annotation Evidence References Source
is active in basolateral plasma membrane IDA
IDA: Inferred from direct assay
17486601 GOA
located in basolateral plasma membrane IDA
IDA: Inferred from direct assay
20019163 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

HEPH Protein Structure

Cu-oxidase_3

Cu-oxidase_3: Multicopper oxidase (98 - 204)

Cu-oxidase_3

Cu-oxidase_3: Multicopper oxidase (455 - 559)

Cu-oxidase_2

Cu-oxidase_2: Multicopper oxidase (959 - 1062)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1000
  • 1158 a.a.
Protein Preferred Names Protein Names

hephaestin

HEPH Antibodies

Cat. No. Product Name Application Reactivity
HY-P89578 Hephaestin Antibody (YA8922) WB, ICC/IF, IF-Tissue, IHC-P, IP, ELISA human

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

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS06124 HEPH Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS18035 Heph Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS24509 Heph Rat Pre-designed siRNA Set A Pre-designed Set / 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