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XSB2248 : gamma filamin isoform b [Homo sapiens]

[ CaMP Format ]

This entry is computationally expanded from SB0092

* Basic Information

OrganismHomo sapiens (human)
Protein NamesFilamin-C; Gamma-filamin; Filamin-2; Protein FLNc; Actin-binding-like protein; ABP-L; ABP-280-like protein; gamma filamin isoform b; filamin 2; gamma filamin
Gene NamesFLNC; ABPL, FLN2; ABPL; FLN2; filamin C, gamma (actin binding protein 280)
Gene Locus7q32-q35; chromosome 7
GO FunctionNot available
Entrez Protein Entrez Nucleotide Entrez Gene UniProt OMIM HGNC HPRD KEGG
NP_001120959 NM_001127487 2318 FLNC_HUMAN 102565 3756 N/A hsa:2318

* Information From OMIM

Description: Filamins, such as FLNC, are a family of actin (see ACTA1; OMIM:102610)-binding proteins involved in reshaping of the cytoskeleton. See FLN1 (FLNA; OMIM:300017) for background information on the filamin gene family.

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* Structure Information

1. Primary Information

Length: 2692 aa

Average Mass: 287.281 kDa

Monoisotopic Mass: 287.102 kDa

2. Domain Information

Annotated Domains: interpro / pfam / smart / prosite

Computationally Assigned Domains (Pfam+HMMER):

domain namebeginendscoree-value
CH 1. 37142109.89.2e-30
CH 2. 160262103.19.5e-28
Filamin 1. 272365128.22.6e-35
Filamin 2. 372465124.53.4e-34
Filamin 3. 471562134.04.7e-37
Filamin 4. 568655117.83.6e-32
Filamin 5. 664755147.44.5e-41
Filamin 6. 761858142.01.8e-39
Filamin 7. 864957123.56.7e-34
Filamin 8. 9631053108.22.8e-29
Filamin 9. 10591146151.52.5e-42
Filamin 10. 11521241149.31.1e-41
Filamin 11. 12471341124.34e-34
Filamin 12. 13471434156.48.5e-44
Filamin 13. 14401530147.15.5e-41
Filamin 14. 15361627141.03.7e-39
Filamin 15. 16331731101.62.7e-27
Filamin 16. 1741181821.70.00014
Filamin 17. 18231910156.48.4e-44
Filamin 18. 1911199719.20.00024
Filamin 19. 20052092149.69.6e-42
Filamin 20. 2183227041.04.9e-09
Filamin 21. 22782365137.93.2e-38
Filamin 22. 2372246086.78.4e-23
Filamin 23. 24692556123.19.1e-34
--- cleavage 2593 ---
Filamin 24. 25992688116.68e-32

3. Sequence Information

Fasta Sequence: XSB2248.fasta

Amino Acid Sequence and Secondary Structures (PsiPred):

4. 3D Information

Known Structures in PDB: 1V05 (X-ray; 143 A; A=2633-2725), 2D7M (NMR; -; A=1536-1637), 2D7N (NMR; -; A=1782-1861), 2D7O (NMR; -; A=1856-1953), 2D7P (NMR; -; A=2405-2500), 2D7Q (NMR; -; A=2502-2599), 2NQC (X-ray; 205 A; A=2495-2598)

* Cleavage Information

1 [sites]

Cleavage sites (±10aa)

[Site 1] SSSSRGSSYS2593-SIPKFSSDAS

Ser2593 Ser

P10 P9 P8 P7 P6 P5 P4 P3 P2 P1
Ser2584Ser2585Ser2586Ser2587Arg2588Gly2589Ser2590Ser2591Tyr2592Ser2593
P1' P2' P3' P4' P5' P6' P7' P8' P9' P10'
Ser2594Ile2595Pro2596Lys2597Phe2598Ser2599Ser2600Asp2601Ala2602Ser2603

Sequence conservation (by blast)

* References

[PubMed ID: 19151983] Claeys KG, van der Ven PF, Behin A, Stojkovic T, Eymard B, Dubourg O, Laforet P, Faulkner G, Richard P, Vicart P, Romero NB, Stoltenburg G, Udd B, Fardeau M, Voit T, Furst DO, Differential involvement of sarcomeric proteins in myofibrillar myopathies: a morphological and immunohistochemical study. Acta Neuropathol. 2009 Mar;117(3):293-307. Epub 2009 Jan 17.

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