RecName: Full=Liprin-beta-1; AltName: Full=Protein tyrosine phosphatas - Protein

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A novel homozygous truncating variant in PPFIBP1 further delineates PPFIBP1-associated neurodevelopmental disorder. [Int J Dev Neurosci. 2023]
A novel homozygous truncating variant in PPFIBP1 further delineates PPFIBP1-associated neurodevelopmental disorder.
Waqas A, Liaqat R, Shaheen S, Khan AZ, Mujahid, Habib AH, Binothman N, Aljadani M, Zehri Z, Shaheen S, et al. Int J Dev Neurosci. 2023 Apr; 83(2):191-200. Epub 2022 Dec 30.
PPFIBP1 induces glioma cell migration and invasion through FAK/Src/JNK signaling pathway. [Cell Death Dis. 2021]
PPFIBP1 induces glioma cell migration and invasion through FAK/Src/JNK signaling pathway.
Dong C, Li X, Yang J, Yuan D, Zhou Y, Zhang Y, Shi G, Zhang R, Liu J, Fu P, et al. Cell Death Dis. 2021 Sep 3; 12(9):827. Epub 2021 Sep 3.
Bi-allelic loss-of-function variants in PPFIBP1 cause a neurodevelopmental disorder with microcephaly, epilepsy, and periventricular calcifications. [Am J Hum Genet. 2022]
Bi-allelic loss-of-function variants in PPFIBP1 cause a neurodevelopmental disorder with microcephaly, epilepsy, and periventricular calcifications.
Rosenhahn E, O'Brien TJ, Zaki MS, Sorge I, Wieczorek D, Rostasy K, Vitobello A, Nambot S, Alkuraya FS, Hashem MO, et al. Am J Hum Genet. 2022 Aug 4; 109(8):1421-1435. Epub 2022 Jul 12.

RefSeq protein isoforms
See 96 reference sequence protein isoforms for the PPFIBP1 gene.

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Q86W92 [Domain Mapping of Disease Mut...]
Q86W92
Domain Mapping of Disease Mutations
Transcript/Protein Information [PANTHER Classification System]
Transcript/Protein Information
PANTHER Classification System
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Reactome
reagents [ExactAntigen/Labome]
reagents
ExactAntigen/Labome

RecName: Full=Liprin-beta-1; AltName: Full=Protein tyrosine phosphatase receptor...
RecName: Full=Liprin-beta-1; AltName: Full=Protein tyrosine phosphatase receptor type f polypeptide-interacting protein-binding protein 1; Short=PTPRF-interacting protein-binding protein 1; AltName: Full=hSGT2
gi|90185247|sp|Q86W92.2|LIPB1_HUMAN

Protein
Homo sapiens cDNA clone IMAGE:9052168, containing frame-shift errors
Homo sapiens cDNA clone IMAGE:9052168, containing frame-shift errors
gi|219517937|gb|BC143654.1|

Nucleotide

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Protein