Protein 4.1

Protein 4.1
Struktur sedia ada
PDB	Pencarian ortolog: PDBe RCSB
Senarai kod PDB
	1GG3, 2RQ1, 3QIJ
Pengecam
Alias	EPB41, erythrocyte membrane protein band 4.1, 4.1R, EL1, HE
Pengecam-pengecam luaran	OMIM: 130500 MGI: 95401 HomoloGene: 44324 GeneCards: EPB41
Kedudukan gen (Manusia)
Kr.	Kromosom 1
Tamat	29,120,046 bp
Corak ekspresi RNA
	Top expressed in
	trabecular bone; ; Hemisfera serebelum; ; timus; ; darah; ; amniotic fluid; ; monocyte; ; Sumsum tulang; ; nodus limfa; ; cardia; ; pylorus;
	Top expressed in
	darah; ; korteks serebelum; ; Lensa; ; limpa; ; timus; ; secondary oocyte; ; Atrium jantung; ; Tali pusat; ; Kantung yolka; ; cerebellar vermis;
	More reference expression data
	; ; ; ;
	Rujukan lanjutan untuk data ekspresi
Ontologi gen
Fungsi molekul	spectrin binding; structural molecule activity; calmodulin binding; cytoskeletal protein binding; 1-phosphatidylinositol binding; structural constituent of cytoskeleton; Pengikatan protein plasma; actin binding; protein C-terminus binding; protein N-terminus binding; phosphoprotein binding;
Komponen sel	membran; cortical cytoskeleton; cell junction; cell cortex; spectrin-associated cytoskeleton; cytoskeleton; nukleus sel; Sitoplasma; cytosol; cytoplasmic side of plasma membrane; postsynaptic density; Membran plasma; cell cortex region; protein-containing complex; basolateral plasma membrane;
Proses biologi	positive regulation of protein binding; cortical actin cytoskeleton organization; actin cytoskeleton organization; actomyosin structure organization; regulation of cell shape; positive regulation of protein localization to cell cortex; kitaran sel; Pembahagian sel; protein-containing complex assembly; regulation of calcium ion transport; regulation of intestinal absorption;
	Sumber:Amigo / QuickGO
Ortolog
	2035
	269587
	ENSG00000159023
	ENSMUSG00000028906
	P11171
	P48193
NM_001166005; NM_001166006; NM_001166007; NM_004437; NM_203342;
	NM_203343; NM_001376013; NM_001376014; NM_001376015; NM_001376016; NM_001376017; NM_001376018; NM_001376019; NM_001376020; NM_001376021; NM_001376022; NM_001376023; NM_001376024; NM_001376025; NM_001376026; NM_001376027; NM_001376028
	NM_001128606; NM_001128607; NM_183428
NP_001159477; NP_001159478; NP_001159479; NP_004428; NP_976217;
	NP_976218; NP_001362942; NP_001362943; NP_001362944; NP_001362945; NP_001362946; NP_001362947; NP_001362948; NP_001362949; NP_001362950; NP_001362951; NP_001362952; NP_001362953; NP_001362954; NP_001362955; NP_001362956; NP_001362957
	NP_001122078; NP_001122079; NP_906273
	Wikidata
Papar/Sunting data manusia	Papar/Sunting data mencit

Protein 4.1 (protein membran eritrosit jalur 4.1) ialah protein yang dikaitkan dengan sitoskeleton yang dikodkan dalam manusia oleh EPB41 gen. Protein 4.1 ialah unsur struktur utama rangka eritrosit membran. Ia memainkan peranan penting dalam mengawal sifat fizikal membran kestabilan mekanikal dan perubahan bentuk dengan menstabilkan interaksi spektrin-aktin. Protein 4.1 (80 kD) berinteraksi dengan spektrin dan filamen aktin pendek untuk membentuk rangka membran eritrosit. Mutasi spektrin dan protein 4.1 dikaitkan dengan eliptositosis atau sferositosis dan anemia dengan keparahan yang berbeza-beza.

Kepentingan klinikal[sunting | sunting sumber]

Eliptositosis adalah gangguan hematologi yang dicirikan oleh eritrosit berbentuk membujur (elips) dan tahap anemia hemolisis yang berubah-ubah. Diwarisi sebagai penyakit dominan autosom, eliptositosis terhasil daripada mutasi dalam mana-mana satu daripada beberapa gen yang mengekod protein rangka membran sel merah. Bentuk yang dibincangkan di sini adalah yang ditemui pada tahun 1950-an yang dikaitkan dengan kumpulan darah Rh, dan baru-baru ini, terbukti disebabkan oleh kecacatan dalam protein 4.1. Bentuk eliptositosis "tak berkaitan Rh" disebabkan oleh mutasi dalam gen alfa-spektrin (MIM 182860), gen beta-spektrin (MIM 182870) atau gen jalur 3 (MIM 109270) [dibekalkan oleh OMIM].^[4]

Interaksi[sunting | sunting sumber]

Protein 4.1 telah ditunjukkan berinteraksi dengan:

Rujukan[sunting | sunting sumber]

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000159023 - Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Entrez Gene: EPB41 erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked)".
^ Hung LY, Tang CJ, Tang TK (October 2000). "Protein 4.1 R-135 interacts with a novel centrosomal protein (CPAP) which is associated with the gamma-tubulin complex". Mol. Cell. Biol. 20 (20): 7813–25. doi:10.1128/mcb.20.20.7813-7825.2000. PMC 86375. PMID 11003675.
^ Hou CL; Tang Cj; Roffler SR; Tang TK (July 2000). "Protein 4.1R binding to eIF3-p44 suggests an interaction between the cytoskeletal network and the translation apparatus". Blood. 96 (2): 747–53. doi:10.1182/blood.V96.2.747.014k19_747_753. PMID 10887144.
^ Mattagajasingh SN, Huang SC, Hartenstein JS, Snyder M, Marchesi VT, Benz EJ (April 1999). "A nonerythroid isoform of protein 4.1R interacts with the nuclear mitotic apparatus (NuMA) protein". J. Cell Biol. 145 (1): 29–43. doi:10.1083/jcb.145.1.29. PMC 2148212. PMID 10189366.
^ Mattagajasingh SN, Huang SC, Hartenstein JS, Benz EJ (September 2000). "Characterization of the interaction between protein 4.1R and ZO-2. A possible link between the tight junction and the actin cytoskeleton". J. Biol. Chem. 275 (39): 30573–85. doi:10.1074/jbc.M004578200. PMID 10874042.

Pautan luar[sunting | sunting sumber]

erythrocyte+membrane+band+4.1+protein dalam Tajuk Subjek Perubatan (MeSH) di Perpustakaan Perubatan Negara AS

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000159023 - Ensembl, May 2017

[2] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[3] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Entrez Gene: EPB41 erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked)".

[pmid11003675-5] Hung LY, Tang CJ, Tang TK (October 2000). "Protein 4.1 R-135 interacts with a novel centrosomal protein (CPAP) which is associated with the gamma-tubulin complex". Mol. Cell. Biol. 20 (20): 7813–25. doi:10.1128/mcb.20.20.7813-7825.2000. PMC 86375. PMID 11003675.

[pmid10887144-6] Hou CL; Tang Cj; Roffler SR; Tang TK (July 2000). "Protein 4.1R binding to eIF3-p44 suggests an interaction between the cytoskeletal network and the translation apparatus". Blood. 96 (2): 747–53. doi:10.1182/blood.V96.2.747.014k19_747_753. PMID 10887144.

[pmid10189366-7] Mattagajasingh SN, Huang SC, Hartenstein JS, Snyder M, Marchesi VT, Benz EJ (April 1999). "A nonerythroid isoform of protein 4.1R interacts with the nuclear mitotic apparatus (NuMA) protein". J. Cell Biol. 145 (1): 29–43. doi:10.1083/jcb.145.1.29. PMC 2148212. PMID 10189366.

[pmid10874042-8] Mattagajasingh SN, Huang SC, Hartenstein JS, Benz EJ (September 2000). "Characterization of the interaction between protein 4.1R and ZO-2. A possible link between the tight junction and the actin cytoskeleton". J. Biol. Chem. 275 (39): 30573–85. doi:10.1074/jbc.M004578200. PMID 10874042.

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