Bos taurus Gene: HEPH | |||||||||||||
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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
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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] |
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Gene Information | |||||||||||||
Type | Protein coding | ||||||||||||
Genomic Location | Chromosome X:99644622-99768588 | ||||||||||||
Strand | Reverse strand | ||||||||||||
Band | |||||||||||||
Transcripts |
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Interactions | |||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
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Gene Ontology | |||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Orthologs | |||||||||||||
Species
Homo sapiens
Mus musculus
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Gene ID
Gene Order
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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
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KEGG |
Porphyrin and chlorophyll metabolism pathway
Porphyrin and chlorophyll metabolism pathway
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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 |
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