| Type | Description |
|---|---|
| Definition | potassium voltage-gated channel subfamily J member 13 |
| Date | Results | Publications |
|---|---|---|
| 2020-10-03 12:58:00 | KCNJ13 Gene Deletion Impairs Cell Alignment and Phagocytosis in Retinal Pigment Epithelium Derived from Human-Induced | 32437550 |
| 2020-02-22 11:40:00 | Both human and zebrafish variants are missense and located within the conserved transmembrane M2 protein domain, suggesting that disruption of this region may contribute to retinovascular changes as an additional feature to the previously described LCA phenotype. Close monitoring of other patients with similar mutations may be required to minimise the ensuing retinal damage. | 31647904 |
| 2019-05-25 11:44:00 | We propose that mutant RPE Kir7.1 channels contribute directly to the abnormal ERG associated with blindness via alterations in sub-retinal space K(+) homeostasis in the vicinity of the photoreceptor outer segment. | 28878288 |
| 2018-07-28 11:40:00 | Results confirm earlier findings that the MC4R-Kir7.1 signaling is independent of Gs-AC-cAMP signaling pathway. Furthermore, these data suggest that a noncanonical GPCR signaling pathway may be essential for this interaction. | 29058194 |
| 2018-05-26 10:57:00 | The activated oxytocin receptor was able to inhibit the Kir7.1 channel, an important mediator of sub retinal waste transport and K(+) homeostasis. | 28603013 |
| Type | IDs |
|---|---|
| Synonymous | KIR1.4, KIR7.1, LCA16, SVD |
| Gene |
UniProtKB-ID:
KCJ13_HUMAN
UniprotKB:
O60928
UniParc:
UPI0000E5A2C5,
UPI000012D8AF
EMBL:
AJ006128,
AJ007557,
AY758240,
AY758241,
AF061118,
CH471063,
AF082182,
AB013891,
AC064852,
AK314019,
BC037290,
AB013889
Ensembl:
ENSG00000115474
KO:
hsa:3769
|
| Nucleutide sequences |
EMBL-CDS:
CAA07552.1,
AAD08673.1,
BAA28271.1,
BAG36730.1,
AAC15769.1,
EAW71019.1,
AAH37290.1,
AAX08098.1,
BAA28273.1,
AAX93190.1,
AAX08099.1,
CAA06878.1
Ensembl_TRS:
ENST00000410029,
ENST00000233826,
ENST00000409779
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000233826,
ENSP00000386408,
ENSP00000386251
RefSeq:
NP_002233.2,
NP_001165888.1,
NP_001165887.1
|
| Others |
UniRef100:
UniRef100_O60928
UniRef90:
UniRef90_O60928
UniRef50:
UniRef50_O60928
UniGene:
Hs.467338
CCDS:
CCDS2498.1,
CCDS54437.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| Location | {{protein.contigId}} ( {{protein.positionStart}}..{{protein.positionEnd}} , {{protein.orientation}} ) | |||||||
| Conserved domain | Region: {{conservedDomain.region == '' || conservedDomain.region == null ? "-": conservedDomain.region}} GFID: {{conservedDomain.gfid == '' || conservedDomain.gfid == null ? "-": conservedDomain.gfid}} Family: {{conservedDomain.family == '' || conservedDomain.family == null ? "-": conservedDomain.family}} CDD: {{conservedDomain.cdd}} - |
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