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