Version 5.4
| Homo sapiens Gene: HEPH | |||||||||||||||||||
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| Summary | |||||||||||||||||||
| InnateDB Gene | IDBG-73560.6 | ||||||||||||||||||
| Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||
| Gene Symbol | HEPH | ||||||||||||||||||
| Gene Name | hephaestin | ||||||||||||||||||
| Synonyms | CPL | ||||||||||||||||||
| Species | Homo sapiens | ||||||||||||||||||
| Ensembl Gene | ENSG00000089472 | ||||||||||||||||||
| Encoded Proteins |
hephaestin
hephaestin
hephaestin
hephaestin
hephaestin
hephaestin
hephaestin
hephaestin
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| Protein Structure |
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| Useful resources | Stemformatics EHFPI ImmGen | ||||||||||||||||||
| Entrez Gene | |||||||||||||||||||
| Summary |
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:66162549-66268867 | ||||||||||||||||||
| Strand | Forward strand | ||||||||||||||||||
| Band | q12 | ||||||||||||||||||
| Transcripts | |||||||||||||||||||
| Interactions | |||||||||||||||||||
| Number of Interactions |
This gene and/or its encoded proteins are associated with 1 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 | |||||||||||||||||||
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Species
Mus musculus
Bos taurus
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Gene ID
Gene Order
Not yet available
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| Pathways | |||||||||||||||||||
| 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
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| KEGG |
Porphyrin and chlorophyll metabolism pathway
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| INOH | |||||||||||||||||||
| PID NCI | |||||||||||||||||||
| Cross-References | |||||||||||||||||||
| SwissProt | Q9BQS7 | ||||||||||||||||||
| TrEMBL | B4DFV3 Q1HE23 Q5JZ07 | ||||||||||||||||||
| UniProt Splice Variant | |||||||||||||||||||
| Entrez Gene | 9843 | ||||||||||||||||||
| UniGene | Hs.31720 | ||||||||||||||||||
| RefSeq | NM_001130860 NM_001282141 NM_014799 NM_138737 XM_006724722 | ||||||||||||||||||
| HUGO | HGNC:4866 | ||||||||||||||||||
| OMIM | 300167 | ||||||||||||||||||
| CCDS | CCDS14384 CCDS14385 CCDS48133 CCDS65277 | ||||||||||||||||||
| HPRD | 02159 | ||||||||||||||||||
| IMGT | |||||||||||||||||||
| EMBL | AB014598 AF148860 AJ296162 AK294278 AK316231 AL030998 AL157698 AY358990 BC011561 CH471132 DQ496100 | ||||||||||||||||||
| GenPept | AAH11561 AAK08131 AAQ89349 ABF47089 BAA31673 BAG57564 BAH14602 CAC35365 EAX05384 EAX05385 EAX05386 EAX05388 | ||||||||||||||||||
| RNA Seq Atlas | 9843 | ||||||||||||||||||