filamin-A-interacting protein 1 isoform X1 [Homo sapiens]

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Bi-allelic variants of FILIP1 cause congenital myopathy, dysmorphism and neurological defects. [Brain. 2023]
Bi-allelic variants of FILIP1 cause congenital myopathy, dysmorphism and neurological defects.
Roos A, van der Ven PFM, Alrohaif H, Kölbel H, Heil L, Della Marina A, Weis J, Aßent M, Beck-Wödl S, Barresi R, et al. Brain. 2023 Oct 3; 146(10):4200-4216.
Homozygous loss-of-function variants in FILIP1 cause autosomal recessive arthrogryposis multiplex congenita with microcephaly. [Hum Genet. 2023]
Homozygous loss-of-function variants in FILIP1 cause autosomal recessive arthrogryposis multiplex congenita with microcephaly.
Schnabel F, Schuler E, Al-Maawali A, Chaurasia A, Syrbe S, Al-Kindi A, Bhavani GS, Shukla A, Altmüller J, Nürnberg P, et al. Hum Genet. 2023 Apr; 142(4):543-552. Epub 2023 Mar 21.
Clinically relevant aberrant Filip1l DNA methylation detected in a murine model of cutaneous squamous cell carcinoma. [EBioMedicine. 2021]
Clinically relevant aberrant Filip1l DNA methylation detected in a murine model of cutaneous squamous cell carcinoma.
Roth K, Coussement L, Knatko EV, Higgins M, Steyaert S, Proby CM, de Meyer T, Dinkova-Kostova AT. EBioMedicine. 2021 May; 67:103383. Epub 2021 May 14.

RefSeq genomic sequence
See the genomic reference sequence for the FILIP1 gene (NG_051931.1).
RefSeq mRNA
See reference mRNA sequence for the FILIP1 gene (XM_047418647.1).
RefSeq protein isoforms
See 13 reference sequence protein isoforms for the FILIP1 gene.

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Protein