SCAPER

SCAPER
Identifiers
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
Gene location (Human)
Chr.	Chromosome 15 (human)
End	76,905,444 bp
Gene location (Mouse)
Chr.	Chromosome 9 (mouse)
End	55,938,119 bp
Orthologs
	49855
	244891
	ENSG00000140386
	244891
	Q9BY12
	n/a
NM_001145923 ; NM_020843 ; NM_001353009 ; NM_001353010 ; NM_001353011 ;
	NM_001353012
	NM_001081341 ; NM_175536 ; NM_001357652 ; NM_001357653
NP_001139395 ; NP_065894 ; NP_001339938 ; NP_001339939 ; NP_001339940 ;
	NP_001339941
	n/a
	Wikidata
View/Edit Human	View/Edit Mouse

Last updated July 19, 2021

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]

Related Research Articles

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References

1 2 3 GRCh38: Ensembl release 89: ENSG00000140386 - Ensembl, May 2017
1 2 3 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

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[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000140386 - Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 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.

[Tsang2007-5] 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

[Tatour2017-6] 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

[Jauregui2017-7] 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

[Kahrizi2019-8] 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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