例如:"NBL1", "4681", "drought"
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831 CAST

831

CAST

calpastatin

protein-coding

Homo sapiens

基因描述

Type Description
Definition calpastatin

研究结论

Date Results Publications
2020-02-29 11:34:00 A new recessive form of genetic peeling skin syndrome with peeling skin, leukonychia, acral punctate keratoses, cheilitis and knuckle pads (termed PLACK syndrome) shown associated with the loss of function mutations in the CAST gene encoding calpastatin. 31392520
2019-11-30 10:17:00 new human calpastatin skipped of the inhibitory region protects calpain-1 from inactivation and degradation. 30959065
2019-03-02 10:47:00 Low CAST expression is associated with ovarian cancer. 30448882
2018-12-22 12:23:00 Unexpected role of the L-domain of calpastatin during the autoproteolytic activation of human erythrocyte calpain. 29572388
2018-04-07 10:55:00 single nucleotide polymorphisms in CAST gene confer risk for keratoconus susceptibility in Han Chinese population 29428799

名称对应

Type IDs
Synonymous BS-17, PLACK
Gene
UniProtKB-ID: ICAL_HUMAN, Q86YM9_HUMAN, E9PDE4_HUMAN, Q59HE3_HUMAN, B7Z6N0_HUMAN, E9PCH5_HUMAN
UniprotKB: P20810, Q86YM9, E9PDE4, Q59HE3, B7Z6N0, E9PCH5
UniParc: UPI0000DA4C57, UPI0000DA4C5A, UPI0000DA4C59, UPI0000DA4C5C, UPI0000160E6D, UPI0000160E6E, UPI0000DA4C5B, UPI0001D3B527, UPI00004F6A6D, UPI0000DA4C58, UPI000045731B, UPI0000167BB1, UPI000000D8A1, UPI00019152AF, UPI0000169F40
EMBL: D50827, S73329, AC008906, AK300624, M86258, AK296919, AB208816, M28228, U26724, M33328, BC013579, U31346, U38525, U31345, M28229, AY189741, M28230, AC104125, CH471084, AC020900, BC016066, AF095891, BT009783, AF327443, D16217, KC877037, M28227, AL832349
Ensembl: ENSG00000153113
KO: hsa:831
Nucleutide sequences
EMBL-CDS: AAA52296.1, BAA03747.1, AAA52066.1, EAW96075.1, AAH13579.1, AAB60371.1, AAD09102.1, AAB59398.1, AAH16066.1, BAH12454.1, AAP88785.1, AAA80684.1, AAG48151.1, EAW96068.1, AAB32311.1, BAA09438.1, AAC50136.2, AAB60372.1, EAW96071.1, AAO34397.1, BAD92053.1, BAH13316.1
Ensembl_TRS: ENST00000309190, ENST00000508830, ENST00000341926, ENST00000510756, ENST00000338252, ENST00000395813, ENST00000395812, ENST00000504465, ENST00000509903
Protein sequencees
Ensembl_PRO: ENSP00000425721, ENSP00000339914, ENSP00000343421, ENSP00000379158, ENSP00000422176, ENSP00000379157, ENSP00000312523, ENSP00000425670, ENSP00000426946
RefSeq: NP_001317561.1, NP_001271141.1, NP_001035911.1, NP_001741.4, NP_001317558.1, NP_001035910.1, NP_001317555.1, NP_001035905.1, NP_001035907.1, NP_001317562.1, NP_001271142.1, NP_001317559.1, NP_001035908.1, NP_001317556.1, NP_001035906.1, NP_001317560.1, NP_001317557.1, NP_001362246.1, NP_001177371.1, NP_001035909.1, NP_001317563.1, NP_775083.1
Others
UniRef100: UniRef100_H0Y7F0, UniRef100_P20810, UniRef100_B7Z6N0, UniRef100_E9PCH5, UniRef100_E9PDE4, UniRef100_B7Z4U9
UniRef90: UniRef90_E9PDE4, UniRef90_E7EQA0, UniRef90_P20810, UniRef90_H2PG52
UniRef50: UniRef50_P20810, UniRef50_E7EQA0
UniGene: Hs.436186
CCDS: CCDS43344.1, CCDS54882.1, CCDS4082.1, CCDS54883.1

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