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2035 EPB41

2035

EPB41

erythrocyte membrane protein band 4.1

protein-coding

Homo sapiens

基因描述

Type Description
Definition erythrocyte membrane protein band 4.1

研究结论

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

名称对应

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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