InnateDB: Systems Biology of the Innate Immune Response

Mus musculus Gene: Heph

Summary

InnateDB Gene

IDBG-161021.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

Heph

Gene Name

hephaestin

Synonyms

C130006F04Rik; Cpl; mKIAA0698; sla

Species

Mus musculus

Ensembl Gene

ENSMUSG00000031209

Encoded Proteins

IDBP-161023

hephaestin

IDBP-161025

hephaestin

IDBP-253021

hephaestin

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

Entrez Gene

Summary

This gene does not have any Entrez summary - the following is the summary from its human ortholog ENSG00000089472:
The protein encoded by this gene is similar to an iron transport protein found in mouse. The mouse protein is similar to ceruloplasmin, a serum multi-copper ferroxidase, and is thought to be a membrane-bound protein responsible for transport of dietary iron from epithelial cells of the intestinal lumen into the circulatory system. In mouse, defects in this gene can lead to severe microcytic anemia. Three transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2008]
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]

Gene Information

Type

Protein coding

Genomic Location

Chromosome X:96455359-96574485

Strand

Forward strand

Band

Transcripts

ENSMUST00000033553	ENSMUSP00000033553
ENSMUST00000079322	ENSMUSP00000078301
ENSMUST00000113838	ENSMUSP00000109469
ENSMUST00000135212
ENSMUST00000154413

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004322	ferroxidase activity
GO:0005507	copper ion binding
GO:0008198	ferrous iron binding
GO:0016491	oxidoreductase activity

Biological Process

GO:0006825	copper ion transport
GO:0006826	iron ion transport
GO:0006879	cellular iron ion homeostasis
GO:0055114	oxidation-reduction process

Cellular Component

GO:0005622	intracellular
GO:0005886	plasma membrane
GO:0016021	integral component of membrane
GO:0016323	basolateral plasma membrane
GO:0048471	perinuclear region of cytoplasm