Protein Wiskott–Aldrich syndrome

WAS

Struktur yang tersedia

PDB

Pencarian Ortolog: PDBe RCSB

Daftar kode id PDB
1CEE, 1EJ5, 1T84, 2A3Z, 2K42, 2OT0

Pengidentifikasi

Alias

WAS, SCNX, THC, THC1, WASPA, WASp, IMD2, Wiskott-Aldrich syndrome, WASP actin nucleation promoting factor

ID eksternal

OMIM: 300392 MGI: 105059 HomoloGene: 30970 GeneCards: WAS

Lokasi gen (Tikus)

Kr.	X chromosome (tikus)^[1]

Pita	X A1.1\|X 3.65 cM	Awal	7,947,692 bp^[1]
Pita	X A1.1\|X 3.65 cM	Akhir	7,956,737 bp^[1]

Pola ekspresi RNA

Referensi data ekspresi selengkapnya

Ontologi gen
Fungsi molekuler	• phospholipase binding • GO:0005083 GTPase regulator activity • SH3 domain binding • GO:0001948, GO:0016582 Ikatan protein plasma • pengikatan protein identik • actin binding • protein kinase binding • small GTPase binding • actin filament binding
Komponen seluler	• sitoplasma • cell-cell junction • vesicle membrane • actin cytoskeleton • extracellular exosome • Sitoskeleton • sitosol • Mikrofilamen • Inti sel • actin cortical patch • site of double-strand break • phagocytic vesicle
Proses biologis	• defense response • Fc-gamma receptor signaling pathway involved in phagocytosis • actin filament organization • negative regulation of cell motility • Koagulasi • positive regulation of Arp2/3 complex-mediated actin nucleation • actin filament-based movement • endosomal transport • actin filament polymerization • regulation of T cell antigen processing and presentation • GO:0046730, GO:0046737, GO:0046738, GO:0046736 respons imun • epidermis development • actin polymerization or depolymerization • T cell receptor signaling pathway • T cell activation • GO:0048552 regulation of catalytic activity • Rho protein signal transduction • regulation of actin polymerization or depolymerization • regulation of lamellipodium assembly • Cdc42 protein signal transduction • regulation of stress fiber assembly • negative regulation of stress fiber assembly • actin cortical patch assembly • Endositosis • GO:0003257, GO:0010735, GO:1901228, GO:1900622, GO:1904488 positive regulation of transcription by RNA polymerase II • positive regulation of actin nucleation • actin cortical patch localization • GO:0034622 protein-containing complex assembly • cellular response to interferon-gamma • positive regulation of double-strand break repair via homologous recombination • regulation of double-strand break repair via nonhomologous end joining
Sumber:Amigo / QuickGO

Ortolog

Spesies

Manusia

Tikus

Entrez


7454


22376

Ensembl


ENSG00000015285


ENSMUSG00000031165

UniProt


P42768


P70315

RefSeq (mRNA)


NM_000377


NM_009515

RefSeq (protein)


NP_000368 NP_000368.1


NP_033541

Lokasi (UCSC)

n/a

Chr X: 7.95 – 7.96 Mb

Pencarian PubMed

^[2]

^[3]

Wikidata

Lihat/Sunting Manusia

Lihat/Sunting Tikus

Protein Wiskott-Aldrich Syndrome (WASp) adalah protein yang terdiri dari 502 asam amino yang diekspresikan pada sel-sel sistem hematopoietik. Dalam keadaan tidak aktif, WASp berada dalam konformasi yang dihambat secara otomatis dengan urutan di dekat terminal-C yang mengikat ke daerah dekat terminal-N-nya. Aktivasi tergantung pada Cdc42 dan PIP2 yang bertindak untuk mengganggu interaksi ini, menyebabkan protein WASP untuk 'terbuka'. Domain yang terbuka di dekat terminal-C inilah yang mengikat dan mengaktifkan kompleks Arp2/3. Arp2/3 yang aktif selanjutnya akan memicu nukleasi F-aktin baru.

WASp adalah anggota pertama famili gen yang juga mencakup N-WASP (protein neuron Wiskott-Aldrich Syndrome), SCAR/WAVE1, WASH, WHAMM, dan JMY.^[4]^[5] WAML (seperti WASP dan MIM) dan WAWH (WASP tanpa domain WH1) baru-baru ini ditemukan.^[6]

Interaksi

Protein sindrom Wiskott-Aldrich telah terbukti berinteraksi dengan:

CDC42,^[7]^[8]^[9]^[10]
CRKL,^[11]
EGFR,^[12]
FGR,^[13]^[14]^[15]
FYN,^[13]^[15]^[16]
Grb2,^[12]^[13]
ITK^[17]^[18]
ITSN2,^[19]
NCK1,^[15]^[20]^[21]
PIK3R1,^[13]
PLCG1,^[13]^[14]
PSTPIP1,^[22]
Src,^[13]^[14]
TRIP10,^[7] and
WIPF1.^[23]^[24]

Referensi

^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000031165 - 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.
^ "WASP and SCAR/WAVE proteins: the drivers of actin assembly". Journal of Cell Science. 122 (Pt 15): 2575–8. August 2009. doi:10.1242/jcs.023879. PMC 2954249 . PMID 19625501.
^ "Under lock and key: spatiotemporal regulation of WASP family proteins coordinates separate dynamic cellular processes". Seminars in Cell & Developmental Biology. 24 (4): 258–66. April 2013. doi:10.1016/j.semcdb.2012.12.005. PMC 3656410 . PMID 23291261.
^ "WASPs and WAVEs: from molecular function to physiology in hematopoietic cells". Seminars in Cell & Developmental Biology. WASP/WAVE proteins: expanding members and functions & The role of ploidy variation on cellular adaptation. 24 (4): 308–13. April 2013. doi:10.1016/j.semcdb.2013.03.002. PMID 23499790.
^ ^a ^b Tian L, Nelson DL, Stewart DM (March 2000). "Cdc42-interacting protein 4 mediates binding of the Wiskott-Aldrich syndrome protein to microtubules". The Journal of Biological Chemistry. 275 (11): 7854–61. doi:10.1074/jbc.275.11.7854. PMID 10713100.
^ Kim AS, Kakalis LT, Abdul-Manan N, Liu GA, Rosen MK (March 2000). "Autoinhibition and activation mechanisms of the Wiskott-Aldrich syndrome protein". Nature. 404 (6774): 151–8. doi:10.1038/35004513. PMID 10724160.
^ Kolluri R, Tolias KF, Carpenter CL, Rosen FS, Kirchhausen T (May 1996). "Direct interaction of the Wiskott-Aldrich syndrome protein with the GTPase Cdc42". Proceedings of the National Academy of Sciences of the United States of America. 93 (11): 5615–8. Bibcode:1996PNAS...93.5615K. doi:10.1073/pnas.93.11.5615. PMC 39296 . PMID 8643625.
^ Symons M, Derry JM, Karlak B, Jiang S, Lemahieu V, Mccormick F, Francke U, Abo A (March 1996). "Wiskott-Aldrich syndrome protein, a novel effector for the GTPase CDC42Hs, is implicated in actin polymerization". Cell. 84 (5): 723–34. doi:10.1016/S0092-8674(00)81050-8. PMID 8625410.
^ Oda A, Ochs HD, Lasky LA, Spencer S, Ozaki K, Fujihara M, Handa M, Ikebuchi K, Ikeda H (May 2001). "CrkL is an adapter for Wiskott-Aldrich syndrome protein and Syk". Blood. 97 (9): 2633–9. doi:10.1182/blood.v97.9.2633. PMID 11313252.
^ ^a ^b She HY, Rockow S, Tang J, Nishimura R, Skolnik EY, Chen M, Margolis B, Li W (September 1997). "Wiskott-Aldrich syndrome protein is associated with the adapter protein Grb2 and the epidermal growth factor receptor in living cells". Molecular Biology of the Cell. 8 (9): 1709–21. doi:10.1091/mbc.8.9.1709. PMC 305731 . PMID 9307968.
^ ^a ^b ^c ^d ^e ^f Banin S, Truong O, Katz DR, Waterfield MD, Brickell PM, Gout I (August 1996). "Wiskott-Aldrich syndrome protein (WASp) is a binding partner for c-Src family protein-tyrosine kinases". Current Biology. 6 (8): 981–8. doi:10.1016/s0960-9822(02)00642-5. PMID 8805332.
^ ^a ^b ^c Finan PM, Soames CJ, Wilson L, Nelson DL, Stewart DM, Truong O, Hsuan JJ, Kellie S (October 1996). "Identification of regions of the Wiskott-Aldrich syndrome protein responsible for association with selected Src homology 3 domains". The Journal of Biological Chemistry. 271 (42): 26291–5. doi:10.1074/jbc.271.42.26291. PMID 8824280.
^ ^a ^b ^c Rivero-Lezcano OM, Marcilla A, Sameshima JH, Robbins KC (October 1995). "Wiskott-Aldrich syndrome protein physically associates with Nck through Src homology 3 domains". Molecular and Cellular Biology. 15 (10): 5725–31. PMC 230823 . PMID 7565724.
^ Banin S, Gout I, Brickell P (August 1999). "Interaction between Wiskott-Aldrich Syndrome protein (WASP) and the Fyn protein-tyrosine kinase". Molecular Biology Reports. 26 (3): 173–7. doi:10.1023/A:1006954206151. PMID 10532312.
^ Cory GO, MacCarthy-Morrogh L, Banin S, Gout I, Brickell PM, Levinsky RJ, Kinnon C, Lovering RC (November 1996). "Evidence that the Wiskott-Aldrich syndrome protein may be involved in lymphoid cell signaling pathways". Journal of Immunology. 157 (9): 3791–5. PMID 8892607.
^ Bunnell SC, Henry PA, Kolluri R, Kirchhausen T, Rickles RJ, Berg LJ (October 1996). "Identification of Itk/Tsk Src homology 3 domain ligands". The Journal of Biological Chemistry. 271 (41): 25646–56. doi:10.1074/jbc.271.41.25646. PMID 8810341.
^ McGavin MK, Badour K, Hardy LA, Kubiseski TJ, Zhang J, Siminovitch KA (December 2001). "The intersectin 2 adaptor links Wiskott Aldrich Syndrome protein (WASp)-mediated actin polymerization to T cell antigen receptor endocytosis". The Journal of Experimental Medicine. 194 (12): 1777–87. doi:10.1084/jem.194.12.1777. PMC 2193569 . PMID 11748279.
^ Krause M, Sechi AS, Konradt M, Monner D, Gertler FB, Wehland J (April 2000). "Fyn-binding protein (Fyb)/SLP-76-associated protein (SLAP), Ena/vasodilator-stimulated phosphoprotein (VASP) proteins and the Arp2/3 complex link T cell receptor (TCR) signaling to the actin cytoskeleton". The Journal of Cell Biology. 149 (1): 181–94. doi:10.1083/jcb.149.1.181. PMC 2175102 . PMID 10747096.
^ Okabe S, Fukuda S, Broxmeyer HE (July 2002). "Activation of Wiskott-Aldrich syndrome protein and its association with other proteins by stromal cell-derived factor-1alpha is associated with cell migration in a T-lymphocyte line". Experimental Hematology. 30 (7): 761–6. doi:10.1016/s0301-472x(02)00823-8. PMID 12135674.
^ Wu Y, Spencer SD, Lasky LA (March 1998). "Tyrosine phosphorylation regulates the SH3-mediated binding of the Wiskott-Aldrich syndrome protein to PSTPIP, a cytoskeletal-associated protein". The Journal of Biological Chemistry. 273 (10): 5765–70. doi:10.1074/jbc.273.10.5765. PMID 9488710.
^ Ramesh N, Antón IM, Hartwig JH, Geha RS (December 1997). "WIP, a protein associated with wiskott-aldrich syndrome protein, induces actin polymerization and redistribution in lymphoid cells". Proceedings of the National Academy of Sciences of the United States of America. 94 (26): 14671–6. Bibcode:1997PNAS...9414671R. doi:10.1073/pnas.94.26.14671. PMC 25088 . PMID 9405671.
^ Antón IM, Lu W, Mayer BJ, Ramesh N, Geha RS (August 1998). "The Wiskott-Aldrich syndrome protein-interacting protein (WIP) binds to the adaptor protein Nck". The Journal of Biological Chemistry. 273 (33): 20992–5. doi:10.1074/jbc.273.33.20992. PMID 9694849.

Protein sitoskeleton

Manusia

Mikrofilamen
dan ABP

Miofilamen

Aktin	A1 A2 B C1 G1 G2
Miosin	I MYO1A MYO1B MYO1C MYO1D MYO1E MYO1F MYO1G MYO1H) II MYH1 MYH2 MYH3 MYH4 MYH6 MYH7 MYH7B MYH8 MYH9 MYH10 MYH11 MYH13 MYH14 MYH15 MYH16 III MYO3A MYO3B V MYO5A MYO5B MYO5C VI MYO6 VII MYO7A MYO7B IX MYO9A MYO9B X MYO10 XV MYO15A XVIII MYO18A MYO18B LC MYL1 MYL2 MYL3 MYL4 MYL5 MYL6 MYL6B MYL7 MYL9 MYLIP MYLK MYLK2 MYLL1
Lainnya	Tropomodulin 1 2 3 4 Troponin T 1 2 3 C 1 2 I 1 2 3 Tropomiosin 1 2 3 4 Actinin 1 2 3 4 Kompleks Arp2/3 faktor depolimerisasi aktin Cofilin 1 2 Destrin Gelsolin Profilin 1 2 Titin

Lainnya

Protein Wiskott–Aldrich syndrome
Fibrillin
Filamin
- FLNA
- FLNB
- FLNC
Espin
TRIOBP

Filamen
intermediat

Tipe 1/2
(Keratin,
Cytokeratin)

Keratin epithelial (alpha-keratin lembut)	tipe I/chromosome 17 9 10 12 13 14 15 16 17 19 20 chromosome 12 18 tidak ada 21 tipe II/chromosome 12 1 2A 3 4 5 6A 6B 6C 7 8
Keratin rambut (alpha-keratin keras)	tipe I/chromosome 17 31 32 33A 33B 34 35 36 37 38 tipe II/chromosome 12 81 82 83 84 85 86
Tak terkelompok	chromosome 17 23 24 25 26 27 28 39 40 chromosome 12 71 72 73 74 75 76 77 78 79 80
Bukan alpha	Beta-keratin

tipe 3

Desmin
GFAP
Peripherin
Vimentin

tipe 4

Internexin
Nestin
Neurofilamen
- NEFL
- NEFM
- NEFH
Synemin
Syncoilin

tipe 5

Lamin nuklear: A/C
B1
B2

Mikrotubulus
dan MAP

Tubulin	TUBA1A TUBA1B TUBA1C TUBA3C TUBA3D TUBA3E TUBA4A TUBA8
Kinesin	KIF1A KIF1B KIF2A KIF2C KIF3B KIF3C KIF4A KIF4B KIF5A KIF5B KIF5C KIF6 KIF7 KIF9 KIF11 KIF12 KIF13A KIF13B KIF14 KIF15 KIF16B KIF17 KIF18A KIF18B KIF19 KIF20A KIF20B KIF21A KIF21B KIF22 KIF23 KIF24 KIF25 KIF26A KIF26B KIF27 KIFC1 KIFC2 KIFC3
Dinein	aksonemal: DNAH1 DNAH2 DNAH3 DNAH5 DNAH6 DNAH7 DNAH8 DNAH9 DNAH10 DNAH11 DNAH12 DNAH13 DNAH14 DNAH17 DNAI1 DNAI2 DNALI1 DNAL1 DNAL4 sitoplasmik: DYNC1H1 DYNC2H1 DYNC1I1 DYNC1I2 DYNC1LI1 DYNC1LI2 DYNC2LI1 DYNLL1 DYNLL2 DYNLRB1 DYNLRB2 DYNLT1 DYNLT3
Lainnya	Protein Tau Dynactin DCTN1 Stathmin Tektin TEKT1 TEKT2 TEKT3 TEKT4 TEKT5 Dynamin DNM1 DNM2 DNM3