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49855 SCAPER

49855

SCAPER

S-phase cyclin A associated protein in the ER

protein-coding

Homo sapiens

基因描述

Type Description
Definition S-phase cyclin A associated protein in the ER

研究结论

Date Results Publications
2020-08-22 15:25:00 Delineating the expanding phenotype associated with SCAPER gene mutation. 31192531
2020-06-13 11:01:00 As SCAPER expression is known to peak at late G1 and S phase, overlapping the timing of ciliary resorption, our data suggest a possible role of SCAPER in ciliary dynamics and disassembly, also affecting microtubule-related mitotic progression. 30723319
2020-06-13 10:51:00 Homozygous variants in the gene SCAPER cause syndromic intellectual disability. 31069901
2020-02-08 11:17:00 Unique to our patient's presentation is the absence of intellectual disability and attention-deficit/hyperactivity disorder, suggesting that SCAPER-associated retinitis pigmentosa can also present without systemic manifestations. 30561111
2010-01-21 00:00:00 Study describes the biochemically purification and identification of SCAPER, a novel protein that specifically interacts with cyclin A/Cdk2 in vivo. 17698606

名称对应

Type IDs
Synonymous IDDRP, MSTP063, ZNF291, Zfp291
Gene
UniProtKB-ID: SCAPE_HUMAN
UniprotKB: Q9BY12
UniParc: UPI0000D47E93, UPI00016428F8, UPI0000E59CC3
EMBL: AB040887, BC107415, CH471136, BC015212, AC016343, AC090179, BX647285, AF119814, AC090751, AL137612, BT006762, AC051643, AC027243, AC015798, AF242528
Ensembl: ENSG00000140386
KO: hsa:49855
Nucleutide sequences
EMBL-CDS: CAB70841.1, AAI07416.1, BAA95978.1, AAG47945.1, AAK29205.1, EAW99218.1, AAP35408.1, AAH15212.1
Gene_ORFName: MSTP063
Ensembl_TRS: ENST00000563290, ENST00000538941, ENST00000324767
Protein sequencees
Ensembl_PRO: ENSP00000326924, ENSP00000454973, ENSP00000442190
RefSeq: XP_016877764.1, NP_001339938.1, NP_001339939.1, XP_016877758.1, XP_024305707.1, XP_011519955.1, XP_024305706.1, XP_016877767.1, XP_016877765.1, XP_016877762.1, XP_016877766.1, XP_016877757.1, NP_001339941.1, XP_024305711.1, XP_024305708.1, XP_011519958.1, NP_001139395.1, XP_016877759.1, NP_001339940.1, NP_065894.2, XP_016877761.1, XP_024305710.1, XP_005254474.1, XP_024305712.1, XP_024305705.1, XP_024305709.1, XP_016877772.1
Others
UniRef100: UniRef100_Q9BY12
UniRef90: UniRef90_Q9BY12
UniRef50: UniRef50_Q9BY12
UniGene: Hs.458986
CCDS: CCDS53962.1, CCDS53961.1

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