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58513 EPS15L1

58513

EPS15L1

epidermal growth factor receptor pathway substrate 15 like 1

protein-coding

Homo sapiens

基因描述

Type Description
Definition epidermal growth factor receptor pathway substrate 15 like 1

研究结论

Date Results Publications
2019-09-14 10:37:00 This is the first biallelic variant identified in the EPS15L1 gene underlying SHFM. Our findings report the first direct involvement of EPS15L1 gene in the development of human limbs. 29023680

名称对应

Type IDs
Synonymous EPS15R
Gene
UniProtKB-ID: EP15R_HUMAN, A0A024R7G6_HUMAN
UniprotKB: Q9UBC2, A0A024R7G6
UniParc: UPI000015F6E1, UPI0000D4C04A, UPI0000203640, UPI0000073E6D
EMBL: AF110265, AB015346, CH471106, AC008764, BC131590, BC142716, AC020917, AK024166, AK296473
Ensembl: ENSG00000127527
KO: hsa:58513
Nucleutide sequences
EMBL-CDS: BAG59115.1, BAG51266.1, BAA88118.1, EAW84542.1, AAF21930.1, AAI42717.1, AAI31591.1, EAW84543.1
Gene_ORFName: hCG_36964
Ensembl_TRS: ENST00000597937, ENST00000248070, ENST00000455140, ENST00000602022, ENST00000535753
Protein sequencees
Ensembl_PRO: ENSP00000248070, ENSP00000471981, ENSP00000393313, ENSP00000440103, ENSP00000472267
RefSeq: XP_016882578.1, NP_067058.1, XP_016882580.1, XP_016882577.1, XP_016882579.1, NP_001245304.1, XP_016882581.1, NP_001245303.1, XP_016882576.1, NP_001245305.1, XP_016882575.1
Others
UniRef100: UniRef100_A0A024R7G6, UniRef100_Q9UBC2
UniRef90: UniRef90_M0R165, UniRef90_Q9UBC2
UniRef50: UniRef50_Q9UBC2, UniRef50_Q60902-2
UniGene: Hs.654639, Hs.744842
CCDS: CCDS58653.1, CCDS32944.1, CCDS59363.1, CCDS58654.1

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