protein 4.1

pro·tein 4.1

a peripheral protein that binds tightly to spectrin in the red blood cell membrane; it also binds to certain glycophorins and helps determine the shape and flexibility of the red blood cell.

EPB41

A gene on chromosome 1p33-p32 that encodes protein 4.1, which, with spectrin and actin, constitutes the red cell membrane cytoskeletal network. This network plays a critical role in red cell shape and deformability.

Molecular pathology
EPB41 mutations cause elliptocytosis type 1.
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References in periodicals archive ?
GPC and GPD (Gerbich BGAs) help maintain RBC membrane integrity via protein 4.1 and contribute to the RBC's total net negative charge.
In rest of the cases there is deficiency of protein 4.1, beta spectrin and rarely glycophorin C.
Hereditary elliptocytosis: spectrin and protein 4.1 R.
Mutations in genes coding for protein 4.1, alpha spectrin, beta spectrin, band 3, and Glycophorin C have all been implicated in hereditary elliptocytosis [4, 5].
While the causal factor(s) leading to acquisition of elliptocytosis in cases of MDS have not been definitively identified, several cases have noted decreased levels of human erythroid protein 4.1 in association with del(20q) [9-11].
Mohandas, "Modulation of erythrocyte membrane mechanical function by protein 4.1 phosphorylation," The Journal of Biological Chemistry, vol.
Table 1 Band Protein name Accession Phosphorylated peptide number number 1 Band 3 P02730 MEELQDDYED (Tyr 8) YEDPDIPESQ (Tyr 21) PAKPDSSFYK (Tyr 359) 2 Protein 4.1 P11171 VYECVVEKHA (Tyr 222) 3 Protein 4.2 P16452 Not identified 4 Catalase P04040 KVWPHKDYPL (Tyr 308) 5 P55 Q00013 AIRSQYAHYF (Tyr 429) 6 Actin P60709 GRDLTDYLMK (Tyr 188) 7 G3PDH P04406 PFIDLNYMVY (Tyr 42) 8 Beta spectrin P11277 ERTSPVSLW (Ser 2114) 9 Ankyrin P16157 DQVVESPAIP (Ser 856) 10 Alpha Adducin P35611 REKSKKYSDV (Ser 408) 11 Beta Adducin P35612 TPSFLKKSKK (Ser 713) 12 Protein 4.1 P11171 QEQYESTIGF (Ser 461) RHSNLMLEDL (Ser 664) 13 Protein 4.2 P16452 LLNKRRGSVP (Ser 248) 14 Catalase P04040 TFVQSGSHLA (Ser 517) 15 P55 Q00013 SCSPFGKKKK (Ser 243) 16 Actin P60709 ANTVLSGGTT (Ser 300) 17 G3PDH P04406 ISWYDNEFGY (Ser 312)
Subsequently laboratory investigations showed a total bilirubin of 26mg/dL (conjugated--15.7mg/dL), total protein 4.1 mg/dL (albumin--2.1 mg/dL), ALP--83 U/L (35-104), SGOT--650 U/L, SGPT--330 U/L, TLC--2800, N76%, Hb-8.2%, and platelet--62000/[mm.sup.3] (pancytopenia).
A Drosophila homologue of membrane-skeleton protein 4.1 is associated with septate junctions and is encoded by the coracle gene.