Pfn1 Gene Search Result

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12 records found for search term Pfn1

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RGD ID	Symbol	Name	Description	Chr	Start	Stop	Species	Annotations	Match	Type
733332	PFN1	profilin 1	This gene encodes a member of the profilin family of small actin-binding proteins. The encoded protein plays an important role in actin dynamics by regulating actin polymerization in response to extracellular signals. Deletion of this gene is associated with Miller-Dieker syndrome, and the encoded p ... (more) rotein may also play a role in Huntington disease. Multiple pseudogenes of this gene are located on chromosome 1. [provided by RefSeq, Jul 2012]	17	4945652	4948530	Human	289	symbol , COSMIC , Human Proteome Map	gene, protein-coding, REVIEWED [RefSeq]
1350272	PRF1	perforin 1	This gene encodes a protein with structural similarities to complement component C9 that is important in immunity. This protein forms membrane pores that allow the release of granzymes and subsequent cytolysis of target cells. Whether pore formation occurs in the plasma membrane of target cells or i ... (more) n an endosomal membrane inside target cells is subject to debate. Mutations in this gene are associated with a variety of human disease including diabetes, multiple sclerosis, lymphomas, autoimmune lymphoproliferative syndrome (ALPS), aplastic anemia, and familial hemophagocytic lymphohistiocytosis type 2 (FHL2), a rare and lethal autosomal recessive disorder of early childhood. [provided by RefSeq, Aug 2017]	10	70597348	70602741	Human	686	old_gene_symbol	gene, protein-coding, REVIEWED [RefSeq]
5491160	PFN1P1	profilin 1 pseudogene 1	INTERACTS WITH aristolochic acid A	1	171670274	171671088	Human	1	symbol , COSMIC , Human Proteome Map	gene, pseudo, INFERRED [RefSeq]
1602136	PFN1P2	profilin 1 pseudogene 2	INTERACTS WITH 17beta-estradiol; 3-isobutyl-1-methyl-7H-xanthine; bisphenol A	1	120432204	120434109	Human	13	symbol , COSMIC , Human Proteome Map	gene, pseudo, VALIDATED [RefSeq]
5491055	PFN1P3	profilin 1 pseudogene 3	INTERACTS WITH cadmium dichloride	1	145407635	145408416	Human	1	symbol , COSMIC , Human Proteome Map	gene, pseudo, INFERRED [RefSeq]
5688832	PFN1P4	profilin 1 pseudogene 4		1	148129360	148130141	Human		symbol , COSMIC , Human Proteome Map , old_gene_symbol	gene, pseudo, INFERRED [RefSeq]
5491164	PFN1P6	profilin 1 pseudogene 6		1	144442469	144443250	Human		symbol , COSMIC , Human Proteome Map , old_gene_symbol	gene, pseudo, INFERRED [RefSeq]
6481594	PFN1P8	profilin 1 pseudogene 8		1	146957261	146957668	Human		symbol , COSMIC , Human Proteome Map	gene, pseudo, INFERRED [RefSeq]
5688831	PFN1P9	profilin 1 pseudogene 9	INTERACTS WITH DDT	1	119853205	119853991	Human	1	symbol , COSMIC , Human Proteome Map	gene, pseudo, INFERRED [RefSeq]
5491163	PFN1P10	profilin 1 pseudogene 10		1	21459424	21460202	Human		symbol , COSMIC , Human Proteome Map	gene, pseudo, INFERRED [RefSeq]
6481546	PFN1P11	profilin 1 pseudogene 11		10	102845149	102845567	Human		symbol , COSMIC , Human Proteome Map	gene, pseudo, INFERRED [RefSeq]
5491162	PFN1P12	profilin 1 pseudogene 12		1	143619988	143620770	Human		symbol , COSMIC , Human Proteome Map	gene, pseudo, INFERRED [RefSeq]