| Type | Description |
|---|---|
| Definition | spermatogenesis associated 7 |
| Date | Results | Publications |
|---|---|---|
| 2020-06-20 12:32:00 | Narrow arterioles, a relatively well-preserved macular region, and widespread retinal pigment epithelium atrophy resulting in diffuse mottling hypopigmentation in the midperipheral retina may be considered early and common fundus changes specific to retinopathy. | 31908400 |
| 2018-07-28 10:47:00 | Compound heterozygous c.1100A > G, p.(Y367C) and c.1102_1103delCT, p.(L368Efs*4) variants in manifest as an unusual RP phenotype in this case, showing extensive choroidal sclerosis and retinal pigment epithelium (RPE) atrophy with evidence of progression over two years on multimodal imaging. | 29411205 |
| 2018-06-30 10:13:00 | We present the clinical and genetic findings of two siblings harboring the c.1112T>C/p.I371T homozygous mutation in the gene. | 28481129 |
| 2017-11-11 13:53:00 | The disease resulting from mutations in this patient initially presented as a cone-rod dystrophy (CRD), but changed over time into a phenotype more reminiscent of late-stage retinitis pigmentosa (RP). | 26854980 |
| 2015-11-28 10:56:00 | plays a role in RPGRIP1-mediated protein trafficking across the connecting cilium of photoreceptor cells. Apoptotic degeneration of these cells triggered by protein mislocalization is a mechanism of disease progression in LCA3/juvenile RP patients | 25398945 |
| Type | IDs |
|---|---|
| Synonymous | HEL-S-296, HSD-3.1, HSD3, LCA3 |
| Gene |
UniProtKB-ID:
SPAT7_HUMAN,
V9HVY9_HUMAN
UniprotKB:
Q9P0W8,
V9HVY9
UniParc:
UPI00000712C7,
UPI00001D47D8,
UPI00001D47D9
EMBL:
AF144487,
EU668353,
AL136604,
CH471061,
AL049834,
BC090875,
BC008656,
AL353786,
AF144488
Ensembl:
ENSG00000042317
KO:
hsa:55812
|
| Nucleutide sequences |
EMBL-CDS:
AAH08656.2,
AAF66078.1,
CAB66539.1,
EAW81380.1,
AAF66077.2,
CAD18999.1,
AAH90875.1,
ACF94506.1,
EAW81381.1
Gene_ORFName:
hCG_21084
Ensembl_TRS:
ENST00000556553,
ENST00000045347,
ENST00000356583,
ENST00000393545
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000045347,
ENSP00000348991,
ENSP00000377176,
ENSP00000451128
RefSeq:
XP_024305428.1,
XP_016876944.1,
XP_011535255.1,
XP_005267912.1,
NP_001035518.1,
XP_005267911.1,
XP_016876942.1,
XP_016876941.1,
XP_006720268.1,
XP_005267908.1,
XP_005267909.1,
NP_060888.2,
XP_016876946.1,
XP_016876945.1,
XP_016876943.1,
XP_011535254.1,
XP_006720267.1,
XP_011535253.1
|
| Others |
UniRef100:
UniRef100_Q9P0W8
UniRef90:
UniRef90_Q9P0W8
UniRef50:
UniRef50_Q9P0W8
UniGene:
Hs.525518
CCDS:
CCDS32132.1,
CCDS9883.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| 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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