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) Band 15q24.3 Start 76,347,904 bp End 76,905,444 bp
Gene location (Mouse) Chr. Chromosome 9 (mouse) Band 9|9 B Start 55,457,163 bp End 55,845,403 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in sural nerve Achilles tendon ganglionic eminence hypothalamus anterior pituitary gastrocnemius muscle cerebellar hemisphere Brodmann area 9 cingulate gyrus prefrontal cortex Top expressed in arcuate nucleus otolith organ utricle median eminence secondary oocyte paraventricular nucleus of hypothalamus piriform cortex ventromedial nucleus supraoptic nucleus habenula 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
Wikidata
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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.

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.