Bos taurus Gene: HEPH
Summary
InnateDB Gene IDBG-637628.3
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol HEPH
Gene Name Uncharacterized protein
Synonyms
Species Bos taurus
Ensembl Gene ENSBTAG00000047416
Encoded Proteins
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:99644622-99768588
Strand Reverse strand
Band
Transcripts
ENSBTAT00000064640 ENSBTAP00000054213
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
GO:0046872 metal ion binding
Biological Process
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:0016323 basolateral plasma membrane
Orthologs
Species
Homo sapiens
Mus musculus
Gene ID
Gene Order
Pathway Predictions based on Human Orthology Data
NETPATH
REACTOME
Iron uptake and transport pathway
Metal ion SLC transporters pathway
Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds pathway
Transmembrane transport of small molecules pathway
SLC-mediated transmembrane transport pathway
Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds pathway
SLC-mediated transmembrane transport pathway
Iron uptake and transport pathway
Transmembrane transport of small molecules pathway
Metal ion SLC transporters pathway
KEGG
Porphyrin and chlorophyll metabolism pathway
Porphyrin and chlorophyll metabolism pathway
INOH
PID NCI
Cross-References
SwissProt
TrEMBL G3MXE7
UniProt Splice Variant
Entrez Gene 510736
UniGene
RefSeq XM_002700167 XM_005228266 XM_005228267 XM_005228268 XM_005228269
HUGO HGNC:4866
OMIM
CCDS
HPRD
IMGT
EMBL DAAA02073375 DAAA02073376 DAAA02073377 DAAA02073378 DAAA02073379 DAAA02073380
GenPept
RNA Seq Atlas 510736
Transcript Frequencies
Tag Count based mRNA-Abundances across 87 different Tissues (TPM).

Based on Data from Bovine Gene Atlas

Tag Count based mRNA-Abundances across 87 different Tissues (TPM)

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