SCAPER

Protein-coding gene in the species Homo sapiens

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|

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; OMA:SCAPER - orthologs
| Gene location (Human)

Chr.| Chromosome 15 (human)[1]

Band| 15q24.3| Start| 76,347,904 bp[1]
End| 76,905,444 bp[1]
| Gene location (Mouse)

Chr.| Chromosome 9 (mouse)[2]

Band| 9|9 B| Start| 55,457,163 bp[2]
End| 55,845,403 bp[2]
| RNA expression pattern

Bgee| | Human| Mouse (ortholog)

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| Top expressed in

* testicle

* sural nerve

* gonad

* Achilles tendon

* buccal mucosa cell

* ganglionic eminence

* epithelium of colon

* ventricular zone

* C1 segment

* tibial arteries

| Top expressed in

* arcuate nucleus

* zygote

* otolith organ

* utricle

* Rostral migratory stream

* median eminence

* secondary oocyte

* paraventricular nucleus of hypothalamus

* piriform cortex

* ventromedial nucleus

More reference expression data
BioGPS| | n/a

| Orthologs

Species| Human| Mouse
Entrez| |

49855

244891

Ensembl| |

ENSG00000140386

244891

UniProt| |

Q9BY12

n/a

RefSeq (mRNA)| | NM_001145923
NM_020843
NM_001353009
NM_001353010
NM_001353011

NM_001353012

NM_001081341
NM_175536
NM_001357652
NM_001357653

RefSeq (protein)| | NP_001139395
NP_065894
NP_001339938
NP_001339939
NP_001339940

NP_001339941

n/a

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

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This gene lies on the Crick strand and has 30 exons.

## Protein

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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

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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]

## References

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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