SCAPER
Protein-coding gene in the species Homo sapiens
From Wikipedia, the free encyclopedia
SCAPER (S-phase CyclinA Associated Protein residing in the Endoplasmic Reticulum) is a gene located on the long arm of chromosome 15 (15q24.3). It was first identified in 2007.[5]
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| Aliases | SCAPER, ZNF291, Zfp291, MSTP063, S-phase cyclin A associated protein in the ER, IDDRP | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 611611; MGI: 1925976; HomoloGene: 32488; GeneCards: SCAPER; OMA:SCAPER - orthologs | ||||||||||||||||||||||||||||||||||||||||||||||||||
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Gene
This gene lies on the Crick strand and has 30 exons.
Protein
The gene encodes a 1399-amino acid protein with a predicted weight of 158 kilodaltons. It has a C2H2-type zinc finger motif, a putative transmembrane domain, an ER retrieval signal at the C terminus, 4 coiled-coil domains, 6 potential RXL motifs and 6 consensus Cdk phosphorylation sites.
Biochemistry
The encoded protein is found in the nucleus and endoplasmic reticulum.
It is found in all tissues tested. It appears to have a role in the cell cycle.
Clinical significance
Mutations in this gene have been associated with intellectual disability and retinitis pigmentosa.[6][7][8]