SCAPER - Wikipedia
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| SCAPER | |||||||||||||||||||||||||||||||||||||||||||||
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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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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]
This gene lies on the Crick strand and has 30 exons.
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.
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
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Mutations in this gene have been associated with intellectual disability and retinitis pigmentosa.[6][7][8]
- ^ a b c GRCh38: Ensembl release 89: ENSG00000140386 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: 244891 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ Tsang WY, Wang L, Chen Z, Sánchez I, Dynlacht BD (2007) SCAPER, a novel cyclin A-interacting protein that regulates cell cycle progression. J Cell Biol 178(4):621-633
- ^ Tatour Y, Sanchez-Navarro I, Chervinsky E, Hakonarson H, Gawi H, Tahsin-Swafiri S, Leibu R, Lopez-Molina MI, Fernandez-Sanz G, Ayuso C, Ben-Yosef, T (2017) Mutations in SCAPER cause autosomal recessive retinitis pigmentosa with intellectual disability. J Med Genet 54:698-704
- ^ Jauregui R, Thomas AL, Liechty B, Velez G, Mahajan VB, Clark L, Tsang SH (2019) SCAPER-associated nonsyndromic autosomal recessive retinitis pigmentosa. Am J Med Genet A 179(2):312-316
- ^ Kahrizi K, Huber M, Galetzka D, Dewi S, Schröder J, Weis E, Kariminejad A, Fattahi Z, Ropers HH, Schweiger S, Najmabadi H, Winter J (2019) Homozygous variants in the gene SCAPER cause syndromic intellectual disability. Am J Med Genet A