SCAPER

SCAPER
Identifiers
AliasesSCAPER, ZNF291, Zfp291, MSTP063, S-phase cyclin A associated protein in the ER, IDDRP
External IDsOMIM: 611611; MGI: 1925976; GeneCards: SCAPER
Orthologs
DatabasesNCBI: entry; OMA: entry
SpeciesHumanMouse
Entrez

49855

244891

Ensembl

ENSG00000140386

244891

UniProt

Q9BY12

n/a

RefSeq (mRNA)

NM_001081341
NM_175536
NM_001357652
NM_001357653

RefSeq (protein)

n/a

Location (UCSC)Chr 15: 76.35 – 76.91 MbChr 9: 55.46 – 55.85 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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]

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]

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000140386 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: 244891 – Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ 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
  6. ^ 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
  7. ^ 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
  8. ^ 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

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