Type | Description |
---|---|
Definition | erythrocyte membrane protein band 4.1 |
Date | Results | Publications |
---|---|---|
2020-09-12 16:02:00 | Epithelial-specific isoforms of protein 4.1R promote adherens junction assembly in maturing epithelia. | 31776189 |
2020-02-08 11:37:00 | The c.1215G>A mutation of the EPB41 gene probably accounts for the Elliptocytosis in this family | 31950797 |
2019-06-01 10:48:00 | the role of lnc-EPB41-1-1 in congenital pouch colon | 30227690 |
2018-03-03 11:32:00 | 6 within the EPB41 gene are significantly associated with Mandibular Prognathism (rs2762686, rs2788888, rs4654388, rs502393, rs11581096, and rs488113). The G-allele of SNP, assigned as rs4654388, showed the strongest link with an increased risk of Mandibular Prognathism in the Chinese population. | 28570402 |
2018-01-13 12:47:00 | Using Next-Generation sequencing, we identified the causative genetic mutations in fifteen patients with clinically suspected hereditary elliptocytosis and hereditary pyropoikilocytosis and correlated the identified mutations with the clinical phenotype and ektacytometry profile. | 27667160 |
Type | IDs |
---|---|
Synonymous | 4.1R, EL1, HE |
Gene |
UniProtKB-ID:
EPB41_HUMAN,
A0A2R8Y7Y3_HUMAN,
Q29RX4_HUMAN,
Q59F12_HUMAN,
Q1WWM3_HUMAN
UniprotKB:
P11171,
A0A2R8Y7Y3,
Q29RX4,
Q59F12,
Q1WWM3
UniParc:
UPI000002A2C7,
UPI000014177D,
UPI0000074329,
UPI00005197A7,
UPI0000D6C199,
UPI0000366503,
UPI00006A77D2,
UPI000034ECBC,
UPI00006C6A10,
UPI000016A88A,
UPI00004F6DA3
EMBL:
J03796,
AF156226,
AB209649,
AF156225,
M14993,
AL138785,
CH471059,
AL009181,
BC113841,
BC039079,
AL357500,
BC114450,
M61733
Ensembl:
ENSG00000159023
KO:
hsa:2035
|
Nucleutide sequences |
EMBL-CDS:
AAA35797.1,
AAA35794.1,
EAX07668.1,
AAA35793.1,
AAD42222.1,
EAX07665.1,
EAX07663.1,
AAD42223.1,
AAH39079.1,
EAX07667.1,
AAA35795.1,
AAI13842.1,
BAD92886.1,
AAI14451.1
Ensembl_TRS:
ENST00000373797,
ENST00000347529,
ENST00000343067,
ENST00000642260,
ENST00000373800,
ENST00000373798,
ENST00000647103
|
Protein sequencees |
Ensembl_PRO:
ENSP00000362903,
ENSP00000345259,
ENSP00000362904,
ENSP00000495565,
ENSP00000290100,
ENSP00000362906,
ENSP00000496326
RefSeq:
XP_016856078.1,
XP_011539267.1,
NP_001362947.1,
NP_001362951.1,
XP_024309648.1,
NP_001362944.1,
XP_016856086.1,
XP_006710502.1,
XP_005245820.1,
NP_976217.1,
NP_001362950.1,
NP_001362948.1,
NP_001362953.1,
XP_016856084.1,
NP_001362943.1,
NP_001159477.1,
XP_006710497.1,
NP_004428.1,
XP_016856073.1,
XP_011539264.1,
XP_016856081.1,
NP_001362957.1,
XP_016856070.1,
XP_011539262.1,
XP_016856074.1,
XP_011539260.1,
XP_011539259.1,
NP_001362954.1,
NP_001362946.1,
NP_001362952.1,
XP_005245825.1,
NP_001362945.1,
XP_005245810.1,
XP_016856083.1,
XP_005245817.1,
XP_005245827.1,
XP_016856082.1,
NP_001159478.1,
NP_001159479.1,
XP_005245831.1,
XP_016856079.1,
XP_016856072.1,
XP_011539266.1,
XP_011539261.1,
XP_005245826.1,
NP_001362942.1,
XP_011539258.1,
XP_016856071.1,
XP_005245814.1,
NP_001362949.1,
XP_005245821.1,
NP_001362955.1,
NP_976218.1,
XP_016856085.1,
XP_011539263.1,
NP_001362956.1
|
Others |
UniRef100:
UniRef100_Q4VB86,
UniRef100_Q29RX4,
UniRef100_Q59F12,
UniRef100_P11171,
UniRef100_A0A2R8Y7Y3
UniRef90:
UniRef90_F6W871,
UniRef90_P11171-7,
UniRef90_P11171,
UniRef90_Q59F12
UniRef50:
UniRef50_P11171,
UniRef50_Q6Q7P4,
UniRef50_P11171-7
UniGene:
Hs.175437,
Hs.708933,
Hs.712722
CCDS:
CCDS330.1,
CCDS53288.1,
CCDS331.1,
CCDS53289.1,
CCDS332.1
|
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Refseq |
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