| URN | urn:agi-llid:9843 |
|---|---|
| Total Entities | 0 |
| Connectivity | 59 |
| Name | Heph |
| Description | hephaestin |
| Notes | 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] |
| GO Molecular Function | oxidoreductase activity |
|---|---|
| metal ion binding | |
| copper ion binding |
| GO Cellular Component | membrane |
|---|---|
| integral component of membrane | |
| plasma membrane | |
| perinuclear region of cytoplasm |
| GO Biological Process | erythrocyte differentiation |
|---|---|
| oxidation-reduction process | |
| transmembrane transport | |
| cellular iron ion homeostasis | |
| ion transport | |
| copper ion transport | |
| iron ion transport | |
| transport | |
| iron ion homeostasis |
| Pathway | iron homeostasis pathway |
|---|
| Group | Me++ homeostasis |
|---|---|
| erythrocyte differentiation | |
| oxidation-reduction process | |
| oxidoreductase activity | |
| transmembrane transport | |
| cellular iron ion homeostasis | |
| ion transport | |
| copper ion transport | |
| iron ion transport | |
| transport | |
| iron ion homeostasis | |
| metal ion binding | |
| copper ion binding | |
| membrane | |
| integral component of membrane | |
| plasma membrane | |
| perinuclear region of cytoplasm |
| LocusLink ID | 9843 |
|---|---|
| 15203 | |
| 117240 |
| Cell Localization | Plasma membrane |
|---|---|
| Membrane |
| GO ID | 0005507 |
|---|---|
| 0016491 | |
| 0006879 | |
| 0006825 | |
| 0006826 | |
| 0055085 | |
| 0016021 | |
| 0048471 | |
| 0005886 | |
| 0046872 | |
| 0030218 | |
| 0006811 | |
| 0055072 | |
| 0055114 | |
| 0006810 | |
| 0016020 |
| Alias | CPL |
|---|---|
| RP13-238N7.1 | |
| hephaestin | |
| sla | |
| mKIAA0698 | |
| C130006F04Rik | |
| RP23-357O2.1 | |
| haphaestin | |
| sex linked anemia | |
| KIAA0698 | |
| OTTHUMP00000023444 | |
| sex linked anemia gene | |
| RIKEN cDNA C130006F04 gene | |
| OTTHUMP00000210958 | |
| OTTHUMP00000023446 | |
| OTTHUMP00000023445 | |
| HEPH | |
| C130006F04 | |
| OTTHUMP00000023443 |
| Mouse chromosome position | X 42.69 cM |
|---|
| OMIM ID | 300167 |
|---|
| Rat chromosome position | Xq31 |
|---|
| Hugo ID | 4866 |
|---|
| Human chromosome position | Xq11-q12 |
|---|
| Swiss-Prot Accession | Q9BQS7 |
|---|---|
| E7ES21 | |
| Q9Z0Z4 | |
| A2AI62 | |
| Q920H8 | |
| B1AJX8 | |
| D3DVT7 | |
| E9PHN8 | |
| O75180 | |
| Q6UW45 | |
| Q9C058 | |
| A2AI63 | |
| Q6ZQ65 | |
| Q80Y80 | |
| Q8C4S2 |
| Unigene ID | Hs.31720 |
|---|---|
| Mm.277092 | |
| Rn.43849 |
| KEGG ID | hsa:9843 |
|---|---|
| mmu:15203 | |
| rno:117240 |
| Swiss-Prot ID | HEPH_HUMAN |
|---|---|
| HEPH_RAT | |
| HEPH_MOUSE |
| EC Number | 1.-.-.- |
|---|
| Ensembl ID | ENSG00000089472 |
|---|---|
| ENSP00000411687 | |
| ENST00000441993 | |
| ENSP00000337418 | |
| ENST00000336279 | |
| ENSP00000363859 | |
| ENST00000374727 | |
| ENSP00000413211 | |
| ENST00000419594 | |
| ENSMUSG00000031209 | |
| ENSMUSP00000109469 | |
| ENSMUST00000113838 | |
| ENSMUSP00000033553 | |
| ENSMUST00000033553 | |
| ENSMUSP00000078301 | |
| ENSMUST00000079322 | |
| ENSRNOG00000012294 | |
| ENSRNOP00000017312 | |
| ENSRNOT00000017312 |
| Homologene ID | 32094 |
|---|
| Organism | Homo sapiens |
|---|---|
| Mus musculus | |
| Rattus norvegicus |
| MGI ID | 1332240 |
|---|
| RGD ID | 71060 |
|---|
| MedScan ID | 9843 |
|---|