Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
5216
Gene name Gene Name - the full gene name approved by the HGNC.
Profilin 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PFN1
Synonyms (NCBI Gene) Gene synonyms aliases
ALS18
Disease Acronyms (UniProt) Disease acronyms from UniProt database
ALS18
Chromosome Chromosome number
17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
17p13.2
Summary Summary of gene provided in NCBI Entrez Gene.
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 w
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs140547520 T>C Pathogenic 3 prime UTR variant, missense variant, coding sequence variant
rs387907264 A>C Pathogenic Coding sequence variant, missense variant
rs387907265 A>C,G Likely-pathogenic, pathogenic Missense variant, coding sequence variant, 3 prime UTR variant
rs387907266 C>A Pathogenic Missense variant, coding sequence variant, 3 prime UTR variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT007199 hsa-miR-182-5p Luciferase reporter assay 23430586
MIRT051906 hsa-let-7b-5p CLASH 23622248
MIRT049148 hsa-miR-92a-3p CLASH 23622248
MIRT047929 hsa-miR-30c-5p CLASH 23622248
MIRT046707 hsa-miR-222-3p CLASH 23622248
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000774 Function Adenyl-nucleotide exchange factor activity IDA 7758455
GO:0001784 Function Phosphotyrosine residue binding IPI 24700464
GO:0003723 Function RNA binding HDA 22681889
GO:0003779 Function Actin binding IBA 21873635
GO:0003779 Function Actin binding IPI 7758455, 17914456
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
176610 8881 ENSG00000108518
Protein
UniProt ID P07737
Protein name Profilin-1 (Epididymis tissue protein Li 184a) (Profilin I)
Protein function Binds to actin and affects the structure of the cytoskeleton. At high concentrations, profilin prevents the polymerization of actin, whereas it enhances it at low concentrations. By binding to PIP2, it inhibits the formation of IP3 and DG. Inhib
PDB 1AWI , 1CF0 , 1CJF , 1FIK , 1FIL , 1PFL , 2PAV , 2PBD , 3CHW , 4X1L , 4X1M , 4X25 , 6NAS , 6NBE , 6NBW , 7P1H , 8BJH , 8BJI , 8BJJ , 8BR0 , 8RTY , 9AZP
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00235 Profilin 2 140 Profilin Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in epididymis (at protein level). {ECO:0000269|PubMed:20736409}.
Sequence
Sequence length 140
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Rap1 signaling pathway
Regulation of actin cytoskeleton
Amyotrophic lateral sclerosis
Shigellosis
Salmonella infection
  Signaling by ROBO receptors
PCP/CE pathway
RHO GTPases Activate Formins
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Amyotrophic lateral sclerosis Amyotrophic Lateral Sclerosis, AMYOTROPHIC LATERAL SCLEROSIS 18, Amyotrophic lateral sclerosis rs267607084, rs312262720, rs312262752, rs121908287, rs121908288, rs29001584, rs28941475, rs121434378, rs386134173, rs386134174, rs80356730, rs80356727, rs4884357, rs80356717, rs80356733
View all (171 more)
23428184, 24085347, 22801503
Esophagus neoplasm Squamous cell carcinoma of esophagus rs28934578, rs121918714, rs1567556006, rs1575166666 21517111
Unknown
Disease term Disease name Evidence References Source
Mental depression Depressive disorder ClinVar
Amyotrophic Lateral Sclerosis amyotrophic lateral sclerosis type 18, amyotrophic lateral sclerosis GenCC
Associations from Text Mining
Disease Name Relationship Type References
Abnormalities Drug Induced Associate 36160709
Adenocarcinoma Inhibit 19593789, 20143334, 21115820, 24520372, 25613364
Amyotrophic Lateral Sclerosis Associate 23063648, 23141414, 23634771, 24309268, 26056300, 26572741, 27432186, 27838743, 28847504, 29760185, 30166578, 30203378, 31216283, 33767237, 35688275
View all (1 more)
Amyotrophic lateral sclerosis 1 Associate 23063648, 27432186, 35688275
Anemia Aplastic Stimulate 34220798
Arthritis Rheumatoid Associate 33430905
Bipolar Disorder Associate 35821008
Breast Neoplasms Associate 18937284, 19593789, 20143334, 21115820, 21692986, 25084196, 25613364, 25681442, 29333087, 30318519, 37890607
Breast Neoplasms Inhibit 24520372, 25454514
Calcinosis Cutis Associate 27496138