| 621825 | Pfn1 | profilin 1 | ENCODES a protein that exhibits phosphatidylinositol-4,5-bisphosphate binding; signaling receptor binding; actin binding (ortholog); INVOLVED IN cellular response to growth factor stimulus; positive regulation of DNA metabolic process; positive regulation of stress fiber assembly; ASSOCIATED WITH me mbranoproliferative glomerulonephritis; amyotrophic lateral sclerosis (ortholog); amyotrophic lateral sclerosis type 18 (ortholog); FOUND IN parallel fiber to Purkinje cell synapse; postsynapse; presynapse; INTERACTS WITH (S)-nicotine; 2,3,7,8-tetrachlorodibenzodioxine; 2,4-dibromophenyl 2,4,5-tribromophenyl ether | 10 | 55863882 | 55866587 | Rat | 231 | symbol , PhenoGen | gene, protein-coding, PROVISIONAL [RefSeq] |
| 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 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] |
| 733333 | Pfn1 | profilin 1 | Enables small GTPase binding activity. Involved in modification of postsynaptic actin cytoskeleton; modulation of chemical synaptic transmission; and synapse maturation. Acts upstream of or within neural tube closure and regulation of transcription by RNA polymerase II. Located in cytoplasm and nucl eus. Is active in glutamatergic synapse. Is expressed in several structures, including compacted morula; gut; hemolymphoid system; inner cell mass; and nervous system. Human ortholog(s) of this gene implicated in amyotrophic lateral sclerosis type 18. Orthologous to human PFN1 (profilin 1). [provided by Alliance of Genome Resources, Jul 2025] | 11 | 70542670 | 70547625 | Mouse | 291 | symbol , PhenoGen , description | gene, protein-coding, VALIDATED [RefSeq] |
| 8982547 | Pfn1 | profilin 1 | ENCODES a protein that exhibits actin binding (ortholog); actin monomer binding (ortholog); adenyl-nucleotide exchange factor activity (ortholog); INVOLVED IN actin cytoskeleton organization (ortholog); cellular response to growth factor stimulus (ortholog); modification of postsynaptic actin cytosk eleton (ortholog); ASSOCIATED WITH amyotrophic lateral sclerosis (ortholog); amyotrophic lateral sclerosis type 18 (ortholog); esophagus squamous cell carcinoma (ortholog); FOUND IN cell cortex (ortholog); cytoplasm (ortholog); glutamatergic synapse (ortholog) | NW_004955467 | 10357838 | 10360651 | Chinchilla | 60 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 11985409 | PFN1 | profilin 1 | ENCODES a protein that exhibits actin monomer binding (ortholog); adenyl-nucleotide exchange factor activity (ortholog); phosphatidylinositol-4,5-bisphosphate binding (ortholog); INVOLVED IN cellular response to growth factor stimulus (ortholog); modification of postsynaptic actin cytoskeleton (orth olog); modulation of chemical synaptic transmission (ortholog); ASSOCIATED WITH amyotrophic lateral sclerosis (ortholog); amyotrophic lateral sclerosis type 18 (ortholog); esophagus squamous cell carcinoma (ortholog); FOUND IN cell cortex (ortholog); glutamatergic synapse (ortholog); nucleus (ortholog) | 17 | 4993853 | 4996811 | Bonobo | 65 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 12417340 | PFN1 | profilin 1 | ENCODES a protein that exhibits phosphatidylinositol-4,5-bisphosphate binding (ortholog); signaling receptor binding (ortholog); INVOLVED IN cellular response to growth factor stimulus (ortholog); neural tube closure (ortholog); positive regulation of DNA metabolic process (ortholog); ASSOCIATED WIT H amyotrophic lateral sclerosis (ortholog); amyotrophic lateral sclerosis type 18 (ortholog); esophagus squamous cell carcinoma (ortholog); FOUND IN parallel fiber to Purkinje cell synapse (ortholog); postsynapse (ortholog); presynapse (ortholog) | 5 | 31670483 | 31671891 | Dog | 67 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 12713861 | Pfn1 | profilin 1 | ENCODES a protein that exhibits phosphatidylinositol-4,5-bisphosphate binding (ortholog); signaling receptor binding (ortholog); INVOLVED IN cellular response to growth factor stimulus (ortholog); neural tube closure (ortholog); positive regulation of DNA metabolic process (ortholog); ASSOCIATED WIT H amyotrophic lateral sclerosis (ortholog); amyotrophic lateral sclerosis type 18 (ortholog); esophagus squamous cell carcinoma (ortholog); FOUND IN parallel fiber to Purkinje cell synapse (ortholog); postsynapse (ortholog); presynapse (ortholog) | NW_004936677 | 2762971 | 2766038 | Squirrel | 67 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 13875307 | PFN1 | profilin 1 | ENCODES a protein that exhibits actin monomer binding (ortholog); adenyl-nucleotide exchange factor activity (ortholog); phosphatidylinositol-4,5-bisphosphate binding (ortholog); INVOLVED IN cellular response to growth factor stimulus (ortholog); modification of postsynaptic actin cytoskeleton (orth olog); modulation of chemical synaptic transmission (ortholog); ASSOCIATED WITH amyotrophic lateral sclerosis (ortholog); amyotrophic lateral sclerosis type 18 (ortholog); esophagus squamous cell carcinoma (ortholog); FOUND IN cell cortex (ortholog); cytoplasm (ortholog); glutamatergic synapse (ortholog); INTERACTS WITH deoxynivalenol | | | | Pig | 75 | symbol | gene, protein-coding, VALIDATED [RefSeq] |
| 18588179 | PFN1 | profilin 1 | ENCODES a protein that exhibits phosphatidylinositol-4,5-bisphosphate binding (ortholog); signaling receptor binding (ortholog); small GTPase binding (ortholog); INVOLVED IN cellular response to growth factor stimulus (ortholog); modification of postsynaptic actin cytoskeleton (ortholog); modulation of chemical synaptic transmission (ortholog); ASSOCIATED WITH amyotrophic lateral sclerosis (ortholog); amyotrophic lateral sclerosis type 18 (ortholog); esophagus squamous cell carcinoma (ortholog); FOUND IN glutamatergic synapse (ortholog); parallel fiber to Purkinje cell synapse (ortholog); postsynapse (ortholog) | | | | Green Monkey | 67 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 18910830 | Pfn1 | profilin 1 | ENCODES a protein that exhibits actin monomer binding (ortholog); adenyl-nucleotide exchange factor activity (ortholog); phosphatidylinositol-4,5-bisphosphate binding (ortholog); INVOLVED IN cellular response to growth factor stimulus (ortholog); modification of postsynaptic actin cytoskeleton (orth olog); modulation of chemical synaptic transmission (ortholog); ASSOCIATED WITH amyotrophic lateral sclerosis (ortholog); amyotrophic lateral sclerosis type 18 (ortholog); esophagus squamous cell carcinoma (ortholog); FOUND IN cell cortex (ortholog); glutamatergic synapse (ortholog); nucleus (ortholog) | | | | Naked Mole-Rat | 65 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 155247244 | pfn1 | | | | | | Tropical Clawed Frog | | symbol | gene, null |
| 626150331 | Pfn1 | profilin 1 | ENCODES a protein that exhibits actin binding (ortholog); actin monomer binding (ortholog); adenyl-nucleotide exchange factor activity (ortholog); INVOLVED IN actin cytoskeleton organization (ortholog); cellular response to growth factor stimulus (ortholog); modification of postsynaptic actin cytosk eleton (ortholog); ASSOCIATED WITH amyotrophic lateral sclerosis (ortholog); amyotrophic lateral sclerosis type 18 (ortholog); esophagus squamous cell carcinoma (ortholog); FOUND IN cell cortex (ortholog); cytoplasm (ortholog); glutamatergic synapse (ortholog) | | | | Black Rat | 60 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 155240880 | pfn1.L | | | | | | African Clawed Frog | | symbol | gene, null |
| 155247245 | pfn1.S | | | | | | African Clawed Frog | | symbol | gene, null |
| 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 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] |
| 1550141 | Mdga2 | MAM domain containing glycosylphosphatidylinositol anchor 2 | Involved in regulation of presynapse assembly and regulation of synaptic membrane adhesion. Acts upstream of or within several processes, including motor behavior; negative regulation of neuron apoptotic process; and neuron migration. Is active in GABA-ergic synapse and glutamatergic synapse. Is exp ressed in cortical plate. Used to study amyotrophic lateral sclerosis type 18. Orthologous to human MDGA2 (MAM domain containing glycosylphosphatidylinositol anchor 2). [provided by Alliance of Genome Resources, Jul 2025] | 12 | 66512832 | 67269323 | Mouse | 115 | old_gene_symbol | gene, protein-coding, VALIDATED [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] |