Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	5216
Gene name	Profilin 1
Gene symbol	PFN1
Synonyms (NCBI Gene)	ALS18
Chromosome	17
Chromosome location	17p13.2
Summary	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

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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

359

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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
MIRT041589	hsa-miR-193b-3p	CLASH	23622248
MIRT040578	hsa-miR-92b-3p	CLASH	23622248
MIRT039051	hsa-miR-766-3p	CLASH	23622248
MIRT038531	hsa-miR-99b-3p	CLASH	23622248
MIRT036585	hsa-miR-941	CLASH	23622248
MIRT501682	hsa-miR-1271-5p	PAR-CLIP	21572407
MIRT501681	hsa-miR-96-5p	PAR-CLIP	21572407
MIRT007199	hsa-miR-182-5p	PAR-CLIP	21572407
MIRT501679	hsa-miR-5197-5p	PAR-CLIP	21572407
MIRT501678	hsa-miR-3942-5p	PAR-CLIP	21572407
MIRT501677	hsa-miR-4703-5p	PAR-CLIP	21572407
MIRT506226	hsa-miR-6779-3p	PAR-CLIP	21572407
MIRT501674	hsa-miR-4690-3p	PAR-CLIP	21572407
MIRT501673	hsa-miR-5685	PAR-CLIP	21572407
MIRT501672	hsa-miR-361-3p	PAR-CLIP	21572407
MIRT501671	hsa-miR-4641	PAR-CLIP	21572407
MIRT501670	hsa-miR-885-3p	PAR-CLIP	21572407
MIRT501669	hsa-miR-3136-3p	PAR-CLIP	21572407
MIRT501668	hsa-miR-7155-3p	PAR-CLIP	21572407
MIRT501667	hsa-miR-874-5p	PAR-CLIP	21572407
MIRT501666	hsa-miR-6881-5p	PAR-CLIP	21572407
MIRT501665	hsa-miR-203a-5p	PAR-CLIP	21572407
MIRT501664	hsa-miR-1273g-5p	PAR-CLIP	21572407
MIRT501663	hsa-miR-7150	PAR-CLIP	21572407
MIRT535360	hsa-miR-19b-3p	PAR-CLIP	22012620
MIRT535359	hsa-miR-19a-3p	PAR-CLIP	22012620
MIRT535358	hsa-miR-3662	PAR-CLIP	22012620
MIRT535357	hsa-miR-224-3p	PAR-CLIP	22012620
MIRT535356	hsa-miR-522-3p	PAR-CLIP	22012620
MIRT501680	hsa-miR-3936	PAR-CLIP	22012620
MIRT535355	hsa-miR-6782-5p	PAR-CLIP	22012620
MIRT535354	hsa-miR-3163	PAR-CLIP	22012620
MIRT501676	hsa-miR-3675-5p	PAR-CLIP	22012620
MIRT501675	hsa-miR-6890-5p	PAR-CLIP	22012620
MIRT535353	hsa-miR-5681a	PAR-CLIP	22012620
MIRT535352	hsa-miR-766-5p	PAR-CLIP	22012620
MIRT535351	hsa-miR-7106-5p	PAR-CLIP	22012620
MIRT535350	hsa-miR-3175	PAR-CLIP	22012620
MIRT535349	hsa-miR-1343-5p	PAR-CLIP	22012620
MIRT535348	hsa-miR-939-5p	PAR-CLIP	22012620
MIRT535347	hsa-miR-6825-5p	PAR-CLIP	22012620
MIRT535346	hsa-miR-342-5p	PAR-CLIP	22012620
MIRT535345	hsa-miR-4664-5p	PAR-CLIP	22012620
MIRT535343	hsa-miR-5087	PAR-CLIP	22012620
MIRT535344	hsa-miR-223-5p	PAR-CLIP	22012620
MIRT535342	hsa-miR-6867-5p	PAR-CLIP	22012620
MIRT535341	hsa-miR-518a-5p	PAR-CLIP	22012620
MIRT535340	hsa-miR-527	PAR-CLIP	22012620
MIRT535339	hsa-miR-3150a-3p	PAR-CLIP	22012620
MIRT535338	hsa-miR-6763-5p	PAR-CLIP	22012620
MIRT535337	hsa-miR-6818-5p	PAR-CLIP	22012620
MIRT535336	hsa-miR-147a	PAR-CLIP	22012620
MIRT535335	hsa-miR-5010-3p	PAR-CLIP	22012620
MIRT501682	hsa-miR-1271-5p	PAR-CLIP	22012620
MIRT501681	hsa-miR-96-5p	PAR-CLIP	22012620
MIRT007199	hsa-miR-182-5p	PAR-CLIP	22012620
MIRT501678	hsa-miR-3942-5p	PAR-CLIP	22012620
MIRT501677	hsa-miR-4703-5p	PAR-CLIP	22012620
MIRT501674	hsa-miR-4690-3p	PAR-CLIP	22012620
MIRT501673	hsa-miR-5685	PAR-CLIP	22012620
MIRT501672	hsa-miR-361-3p	PAR-CLIP	22012620
MIRT501671	hsa-miR-4641	PAR-CLIP	22012620
MIRT501670	hsa-miR-885-3p	PAR-CLIP	22012620
MIRT501667	hsa-miR-874-5p	PAR-CLIP	22012620
MIRT501665	hsa-miR-203a-5p	PAR-CLIP	22012620
MIRT501664	hsa-miR-1273g-5p	PAR-CLIP	22012620
MIRT501663	hsa-miR-7150	PAR-CLIP	22012620
MIRT501682	hsa-miR-1271-5p	PAR-CLIP	23446348
MIRT501681	hsa-miR-96-5p	PAR-CLIP	23446348
MIRT007199	hsa-miR-182-5p	PAR-CLIP	23446348
MIRT501680	hsa-miR-3936	PAR-CLIP	23446348
MIRT501679	hsa-miR-5197-5p	PAR-CLIP	23446348
MIRT501678	hsa-miR-3942-5p	PAR-CLIP	23446348
MIRT501677	hsa-miR-4703-5p	PAR-CLIP	23446348
MIRT506226	hsa-miR-6779-3p	PAR-CLIP	23446348
MIRT501676	hsa-miR-3675-5p	PAR-CLIP	23446348
MIRT501675	hsa-miR-6890-5p	PAR-CLIP	23446348
MIRT501674	hsa-miR-4690-3p	PAR-CLIP	23446348
MIRT501673	hsa-miR-5685	PAR-CLIP	23446348
MIRT501672	hsa-miR-361-3p	PAR-CLIP	23446348
MIRT501671	hsa-miR-4641	PAR-CLIP	23446348
MIRT501670	hsa-miR-885-3p	PAR-CLIP	23446348
MIRT501669	hsa-miR-3136-3p	PAR-CLIP	23446348
MIRT501668	hsa-miR-7155-3p	PAR-CLIP	23446348
MIRT501667	hsa-miR-874-5p	PAR-CLIP	23446348
MIRT501666	hsa-miR-6881-5p	PAR-CLIP	23446348
MIRT501665	hsa-miR-203a-5p	PAR-CLIP	23446348
MIRT501664	hsa-miR-1273g-5p	PAR-CLIP	23446348
MIRT501663	hsa-miR-7150	PAR-CLIP	23446348
MIRT501682	hsa-miR-1271-5p	PAR-CLIP	24398324
MIRT501681	hsa-miR-96-5p	PAR-CLIP	24398324
MIRT007199	hsa-miR-182-5p	PAR-CLIP	24398324
MIRT501680	hsa-miR-3936	PAR-CLIP	24398324
MIRT501679	hsa-miR-5197-5p	PAR-CLIP	24398324
MIRT501678	hsa-miR-3942-5p	PAR-CLIP	24398324
MIRT501677	hsa-miR-4703-5p	PAR-CLIP	24398324
MIRT501676	hsa-miR-3675-5p	PAR-CLIP	24398324
MIRT501675	hsa-miR-6890-5p	PAR-CLIP	24398324
MIRT501674	hsa-miR-4690-3p	PAR-CLIP	24398324
MIRT501673	hsa-miR-5685	PAR-CLIP	24398324
MIRT501672	hsa-miR-361-3p	PAR-CLIP	24398324
MIRT501671	hsa-miR-4641	PAR-CLIP	24398324
MIRT501670	hsa-miR-885-3p	PAR-CLIP	24398324
MIRT501669	hsa-miR-3136-3p	PAR-CLIP	24398324
MIRT501668	hsa-miR-7155-3p	PAR-CLIP	24398324
MIRT501667	hsa-miR-874-5p	PAR-CLIP	24398324
MIRT501666	hsa-miR-6881-5p	PAR-CLIP	24398324
MIRT501665	hsa-miR-203a-5p	PAR-CLIP	24398324
MIRT501664	hsa-miR-1273g-5p	PAR-CLIP	24398324
MIRT501663	hsa-miR-7150	PAR-CLIP	24398324
MIRT501682	hsa-miR-1271-5p	PAR-CLIP	26701625
MIRT535349	hsa-miR-1343-5p	PAR-CLIP	26701625
MIRT007199	hsa-miR-182-5p	PAR-CLIP	26701625
MIRT501669	hsa-miR-3136-3p	PAR-CLIP	26701625
MIRT501669	hsa-miR-3136-3p	PAR-CLIP	26701625
MIRT501669	hsa-miR-3136-3p	PAR-CLIP	26701625
MIRT535339	hsa-miR-3150a-3p	PAR-CLIP	26701625
MIRT535350	hsa-miR-3175	PAR-CLIP	26701625
MIRT501676	hsa-miR-3675-5p	PAR-CLIP	26701625
MIRT501676	hsa-miR-3675-5p	PAR-CLIP	26701625
MIRT501676	hsa-miR-3675-5p	PAR-CLIP	26701625
MIRT501680	hsa-miR-3936	PAR-CLIP	26701625
MIRT501680	hsa-miR-3936	PAR-CLIP	26701625
MIRT501680	hsa-miR-3936	PAR-CLIP	26701625
MIRT501678	hsa-miR-3942-5p	PAR-CLIP	26701625
MIRT501678	hsa-miR-3942-5p	PAR-CLIP	26701625
MIRT501678	hsa-miR-3942-5p	PAR-CLIP	26701625
MIRT501677	hsa-miR-4703-5p	PAR-CLIP	26701625
MIRT501677	hsa-miR-4703-5p	PAR-CLIP	26701625
MIRT501677	hsa-miR-4703-5p	PAR-CLIP	26701625
MIRT501679	hsa-miR-5197-5p	PAR-CLIP	26701625
MIRT501679	hsa-miR-5197-5p	PAR-CLIP	26701625
MIRT501679	hsa-miR-5197-5p	PAR-CLIP	26701625
MIRT535338	hsa-miR-6763-5p	PAR-CLIP	26701625
MIRT535347	hsa-miR-6825-5p	PAR-CLIP	26701625
MIRT501666	hsa-miR-6881-5p	PAR-CLIP	26701625
MIRT501666	hsa-miR-6881-5p	PAR-CLIP	26701625
MIRT501666	hsa-miR-6881-5p	PAR-CLIP	26701625
MIRT501675	hsa-miR-6890-5p	PAR-CLIP	26701625
MIRT501675	hsa-miR-6890-5p	PAR-CLIP	26701625
MIRT501675	hsa-miR-6890-5p	PAR-CLIP	26701625
MIRT501663	hsa-miR-7150	PAR-CLIP	26701625
MIRT501668	hsa-miR-7155-3p	PAR-CLIP	26701625
MIRT501668	hsa-miR-7155-3p	PAR-CLIP	26701625
MIRT501668	hsa-miR-7155-3p	PAR-CLIP	26701625
MIRT501670	hsa-miR-885-3p	PAR-CLIP	26701625
MIRT501670	hsa-miR-885-3p	PAR-CLIP	26701625
MIRT535348	hsa-miR-939-5p	PAR-CLIP	26701625
MIRT501681	hsa-miR-96-5p	PAR-CLIP	26701625
MIRT501682	hsa-miR-1271-5p	PAR-CLIP	21572407
MIRT501681	hsa-miR-96-5p	PAR-CLIP	21572407
MIRT007199	hsa-miR-182-5p	PAR-CLIP	21572407
MIRT501679	hsa-miR-5197-5p	PAR-CLIP	21572407
MIRT501678	hsa-miR-3942-5p	PAR-CLIP	21572407
MIRT501677	hsa-miR-4703-5p	PAR-CLIP	21572407
MIRT506226	hsa-miR-6779-3p	PAR-CLIP	21572407
MIRT501674	hsa-miR-4690-3p	PAR-CLIP	21572407
MIRT501673	hsa-miR-5685	PAR-CLIP	21572407
MIRT501672	hsa-miR-361-3p	PAR-CLIP	21572407
MIRT501671	hsa-miR-4641	PAR-CLIP	21572407
MIRT501670	hsa-miR-885-3p	PAR-CLIP	21572407
MIRT501669	hsa-miR-3136-3p	PAR-CLIP	21572407
MIRT501668	hsa-miR-7155-3p	PAR-CLIP	21572407
MIRT501667	hsa-miR-874-5p	PAR-CLIP	21572407
MIRT501666	hsa-miR-6881-5p	PAR-CLIP	21572407
MIRT501665	hsa-miR-203a-5p	PAR-CLIP	21572407
MIRT501664	hsa-miR-1273g-5p	PAR-CLIP	21572407
MIRT501663	hsa-miR-7150	PAR-CLIP	21572407
MIRT535360	hsa-miR-19b-3p	PAR-CLIP	22012620
MIRT535359	hsa-miR-19a-3p	PAR-CLIP	22012620
MIRT535358	hsa-miR-3662	PAR-CLIP	22012620
MIRT535357	hsa-miR-224-3p	PAR-CLIP	22012620
MIRT535356	hsa-miR-522-3p	PAR-CLIP	22012620
MIRT501680	hsa-miR-3936	PAR-CLIP	22012620
MIRT535355	hsa-miR-6782-5p	PAR-CLIP	22012620
MIRT535354	hsa-miR-3163	PAR-CLIP	22012620
MIRT501676	hsa-miR-3675-5p	PAR-CLIP	22012620
MIRT501675	hsa-miR-6890-5p	PAR-CLIP	22012620
MIRT535353	hsa-miR-5681a	PAR-CLIP	22012620
MIRT535352	hsa-miR-766-5p	PAR-CLIP	22012620
MIRT535351	hsa-miR-7106-5p	PAR-CLIP	22012620
MIRT535350	hsa-miR-3175	PAR-CLIP	22012620
MIRT535349	hsa-miR-1343-5p	PAR-CLIP	22012620
MIRT535348	hsa-miR-939-5p	PAR-CLIP	22012620
MIRT535347	hsa-miR-6825-5p	PAR-CLIP	22012620
MIRT535346	hsa-miR-342-5p	PAR-CLIP	22012620
MIRT535345	hsa-miR-4664-5p	PAR-CLIP	22012620
MIRT535343	hsa-miR-5087	PAR-CLIP	22012620
MIRT535344	hsa-miR-223-5p	PAR-CLIP	22012620
MIRT535342	hsa-miR-6867-5p	PAR-CLIP	22012620
MIRT535341	hsa-miR-518a-5p	PAR-CLIP	22012620
MIRT535340	hsa-miR-527	PAR-CLIP	22012620
MIRT535339	hsa-miR-3150a-3p	PAR-CLIP	22012620
MIRT535338	hsa-miR-6763-5p	PAR-CLIP	22012620
MIRT535337	hsa-miR-6818-5p	PAR-CLIP	22012620
MIRT535336	hsa-miR-147a	PAR-CLIP	22012620
MIRT535335	hsa-miR-5010-3p	PAR-CLIP	22012620
MIRT501682	hsa-miR-1271-5p	PAR-CLIP	22012620
MIRT501681	hsa-miR-96-5p	PAR-CLIP	22012620
MIRT007199	hsa-miR-182-5p	PAR-CLIP	22012620
MIRT501678	hsa-miR-3942-5p	PAR-CLIP	22012620
MIRT501677	hsa-miR-4703-5p	PAR-CLIP	22012620
MIRT501674	hsa-miR-4690-3p	PAR-CLIP	22012620
MIRT501673	hsa-miR-5685	PAR-CLIP	22012620
MIRT501672	hsa-miR-361-3p	PAR-CLIP	22012620
MIRT501671	hsa-miR-4641	PAR-CLIP	22012620
MIRT501670	hsa-miR-885-3p	PAR-CLIP	22012620
MIRT501667	hsa-miR-874-5p	PAR-CLIP	22012620
MIRT501665	hsa-miR-203a-5p	PAR-CLIP	22012620
MIRT501664	hsa-miR-1273g-5p	PAR-CLIP	22012620
MIRT501663	hsa-miR-7150	PAR-CLIP	22012620
MIRT501682	hsa-miR-1271-5p	PAR-CLIP	23446348
MIRT501681	hsa-miR-96-5p	PAR-CLIP	23446348
MIRT007199	hsa-miR-182-5p	PAR-CLIP	23446348
MIRT501680	hsa-miR-3936	PAR-CLIP	23446348
MIRT501679	hsa-miR-5197-5p	PAR-CLIP	23446348
MIRT501678	hsa-miR-3942-5p	PAR-CLIP	23446348
MIRT501677	hsa-miR-4703-5p	PAR-CLIP	23446348
MIRT506226	hsa-miR-6779-3p	PAR-CLIP	23446348
MIRT501676	hsa-miR-3675-5p	PAR-CLIP	23446348
MIRT501675	hsa-miR-6890-5p	PAR-CLIP	23446348
MIRT501674	hsa-miR-4690-3p	PAR-CLIP	23446348
MIRT501673	hsa-miR-5685	PAR-CLIP	23446348
MIRT501672	hsa-miR-361-3p	PAR-CLIP	23446348
MIRT501671	hsa-miR-4641	PAR-CLIP	23446348
MIRT501670	hsa-miR-885-3p	PAR-CLIP	23446348
MIRT501669	hsa-miR-3136-3p	PAR-CLIP	23446348
MIRT501668	hsa-miR-7155-3p	PAR-CLIP	23446348
MIRT501667	hsa-miR-874-5p	PAR-CLIP	23446348
MIRT501666	hsa-miR-6881-5p	PAR-CLIP	23446348
MIRT501665	hsa-miR-203a-5p	PAR-CLIP	23446348
MIRT501664	hsa-miR-1273g-5p	PAR-CLIP	23446348
MIRT501663	hsa-miR-7150	PAR-CLIP	23446348
MIRT501682	hsa-miR-1271-5p	PAR-CLIP	24398324
MIRT501681	hsa-miR-96-5p	PAR-CLIP	24398324
MIRT007199	hsa-miR-182-5p	PAR-CLIP	24398324
MIRT501680	hsa-miR-3936	PAR-CLIP	24398324
MIRT501679	hsa-miR-5197-5p	PAR-CLIP	24398324
MIRT501678	hsa-miR-3942-5p	PAR-CLIP	24398324
MIRT501677	hsa-miR-4703-5p	PAR-CLIP	24398324
MIRT501676	hsa-miR-3675-5p	PAR-CLIP	24398324
MIRT501675	hsa-miR-6890-5p	PAR-CLIP	24398324
MIRT501674	hsa-miR-4690-3p	PAR-CLIP	24398324
MIRT501673	hsa-miR-5685	PAR-CLIP	24398324
MIRT501672	hsa-miR-361-3p	PAR-CLIP	24398324
MIRT501671	hsa-miR-4641	PAR-CLIP	24398324
MIRT501670	hsa-miR-885-3p	PAR-CLIP	24398324
MIRT501669	hsa-miR-3136-3p	PAR-CLIP	24398324
MIRT501668	hsa-miR-7155-3p	PAR-CLIP	24398324
MIRT501667	hsa-miR-874-5p	PAR-CLIP	24398324
MIRT501666	hsa-miR-6881-5p	PAR-CLIP	24398324
MIRT501665	hsa-miR-203a-5p	PAR-CLIP	24398324
MIRT501664	hsa-miR-1273g-5p	PAR-CLIP	24398324
MIRT501663	hsa-miR-7150	PAR-CLIP	24398324
MIRT1226487	hsa-miR-1271	CLIP-seq
MIRT1226488	hsa-miR-1273g	CLIP-seq
MIRT1226489	hsa-miR-147	CLIP-seq
MIRT1226490	hsa-miR-182	CLIP-seq
MIRT1226491	hsa-miR-19a	CLIP-seq
MIRT1226492	hsa-miR-19b	CLIP-seq
MIRT1226493	hsa-miR-3115	CLIP-seq
MIRT1226494	hsa-miR-3132	CLIP-seq
MIRT1226495	hsa-miR-3151	CLIP-seq
MIRT1226496	hsa-miR-3201	CLIP-seq
MIRT1226497	hsa-miR-3202	CLIP-seq
MIRT1226498	hsa-miR-3613-3p	CLIP-seq
MIRT1226499	hsa-miR-3689d	CLIP-seq
MIRT1226500	hsa-miR-4271	CLIP-seq
MIRT1226501	hsa-miR-4278	CLIP-seq
MIRT1226502	hsa-miR-4475	CLIP-seq
MIRT1226503	hsa-miR-4716-3p	CLIP-seq
MIRT1226504	hsa-miR-4723-5p	CLIP-seq
MIRT1226505	hsa-miR-4725-3p	CLIP-seq
MIRT1226506	hsa-miR-4728-5p	CLIP-seq
MIRT1226507	hsa-miR-4747-5p	CLIP-seq
MIRT1226508	hsa-miR-4791	CLIP-seq
MIRT1226509	hsa-miR-522	CLIP-seq
MIRT1226510	hsa-miR-548ac	CLIP-seq
MIRT1226511	hsa-miR-548d-3p	CLIP-seq
MIRT1226512	hsa-miR-548z	CLIP-seq
MIRT1226513	hsa-miR-561	CLIP-seq
MIRT1226514	hsa-miR-599	CLIP-seq
MIRT1226515	hsa-miR-602	CLIP-seq
MIRT1226516	hsa-miR-939	CLIP-seq
MIRT1226517	hsa-miR-96	CLIP-seq
MIRT1226493	hsa-miR-3115	CLIP-seq
MIRT1226494	hsa-miR-3132	CLIP-seq
MIRT1226496	hsa-miR-3201	CLIP-seq
MIRT1226499	hsa-miR-3689d	CLIP-seq
MIRT1226501	hsa-miR-4278	CLIP-seq
MIRT1226503	hsa-miR-4716-3p	CLIP-seq
MIRT1226504	hsa-miR-4723-5p	CLIP-seq
MIRT1226506	hsa-miR-4728-5p	CLIP-seq
MIRT1226508	hsa-miR-4791	CLIP-seq
MIRT1226515	hsa-miR-602	CLIP-seq
MIRT1226493	hsa-miR-3115	CLIP-seq
MIRT1226494	hsa-miR-3132	CLIP-seq
MIRT1226496	hsa-miR-3201	CLIP-seq
MIRT1226506	hsa-miR-4728-5p	CLIP-seq
MIRT1226508	hsa-miR-4791	CLIP-seq
MIRT1226515	hsa-miR-602	CLIP-seq
MIRT1226487	hsa-miR-1271	CLIP-seq
MIRT1226488	hsa-miR-1273g	CLIP-seq
MIRT1226489	hsa-miR-147	CLIP-seq
MIRT1226490	hsa-miR-182	CLIP-seq
MIRT1226491	hsa-miR-19a	CLIP-seq
MIRT1226492	hsa-miR-19b	CLIP-seq
MIRT1226498	hsa-miR-3613-3p	CLIP-seq
MIRT1226509	hsa-miR-522	CLIP-seq
MIRT1226514	hsa-miR-599	CLIP-seq
MIRT1226516	hsa-miR-939	CLIP-seq
MIRT1226517	hsa-miR-96	CLIP-seq
MIRT1226487	hsa-miR-1271	CLIP-seq
MIRT1226488	hsa-miR-1273g	CLIP-seq
MIRT1226489	hsa-miR-147	CLIP-seq
MIRT1226490	hsa-miR-182	CLIP-seq
MIRT1226491	hsa-miR-19a	CLIP-seq
MIRT1226492	hsa-miR-19b	CLIP-seq
MIRT1226493	hsa-miR-3115	CLIP-seq
MIRT1226494	hsa-miR-3132	CLIP-seq
MIRT1226495	hsa-miR-3151	CLIP-seq
MIRT1226496	hsa-miR-3201	CLIP-seq
MIRT1226497	hsa-miR-3202	CLIP-seq
MIRT1226498	hsa-miR-3613-3p	CLIP-seq
MIRT1226499	hsa-miR-3689d	CLIP-seq
MIRT1226500	hsa-miR-4271	CLIP-seq
MIRT1226501	hsa-miR-4278	CLIP-seq
MIRT1226502	hsa-miR-4475	CLIP-seq
MIRT1226503	hsa-miR-4716-3p	CLIP-seq
MIRT1226504	hsa-miR-4723-5p	CLIP-seq
MIRT1226505	hsa-miR-4725-3p	CLIP-seq
MIRT1226506	hsa-miR-4728-5p	CLIP-seq
MIRT1226507	hsa-miR-4747-5p	CLIP-seq
MIRT1226508	hsa-miR-4791	CLIP-seq
MIRT1226509	hsa-miR-522	CLIP-seq
MIRT1226513	hsa-miR-561	CLIP-seq
MIRT1226514	hsa-miR-599	CLIP-seq
MIRT1226515	hsa-miR-602	CLIP-seq
MIRT1226516	hsa-miR-939	CLIP-seq
MIRT1226517	hsa-miR-96	CLIP-seq
MIRT1226487	hsa-miR-1271	CLIP-seq
MIRT1226488	hsa-miR-1273g	CLIP-seq
MIRT1226490	hsa-miR-182	CLIP-seq
MIRT1226491	hsa-miR-19a	CLIP-seq
MIRT1226492	hsa-miR-19b	CLIP-seq
MIRT1226493	hsa-miR-3115	CLIP-seq
MIRT1226494	hsa-miR-3132	CLIP-seq
MIRT1226496	hsa-miR-3201	CLIP-seq
MIRT1226506	hsa-miR-4728-5p	CLIP-seq
MIRT1226508	hsa-miR-4791	CLIP-seq
MIRT1226513	hsa-miR-561	CLIP-seq
MIRT1226515	hsa-miR-602	CLIP-seq
MIRT1226516	hsa-miR-939	CLIP-seq
MIRT1226517	hsa-miR-96	CLIP-seq

Show/Hide all (41)

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:0001843	Process	Neural tube closure	IEA
GO:0003723	Function	RNA binding	HDA	22681889
GO:0003779	Function	Actin binding	IBA
GO:0003779	Function	Actin binding	IEA
GO:0003779	Function	Actin binding	IPI	7758455, 17914456
GO:0003785	Function	Actin monomer binding	IDA	18573880
GO:0005515	Function	Protein binding	IPI	9822597, 9843499, 16531231, 17470807, 18573880, 18689676, 19000816, 19338310, 23153535, 25255767, 32814053, 35271311
GO:0005546	Function	Phosphatidylinositol-4,5-bisphosphate binding	IDA	7758455
GO:0005634	Component	Nucleus	IDA	24700464
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	24700464
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0005925	Component	Focal adhesion	HDA	21423176
GO:0005938	Component	Cell cortex	IDA	24700464
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IEA
GO:0010634	Process	Positive regulation of epithelial cell migration	IMP	23153535
GO:0016020	Component	Membrane	HDA	19946888
GO:0030036	Process	Actin cytoskeleton organization	IDA	7758455
GO:0030036	Process	Actin cytoskeleton organization	IEA
GO:0030833	Process	Regulation of actin filament polymerization	IBA
GO:0030838	Process	Positive regulation of actin filament polymerization	IGI	23153535
GO:0031267	Function	Small GTPase binding	IEA
GO:0032232	Process	Negative regulation of actin filament bundle assembly	IMP	23153535
GO:0032233	Process	Positive regulation of actin filament bundle assembly	IBA
GO:0045296	Function	Cadherin binding	HDA	25468996
GO:0050804	Process	Modulation of chemical synaptic transmission	IEA
GO:0050821	Process	Protein stabilization	IDA	18573880
GO:0051497	Process	Negative regulation of stress fiber assembly	IMP	23153535
GO:0060074	Process	Synapse maturation	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867, 20458337, 23533145
GO:0070064	Function	Proline-rich region binding	IPI	17914456
GO:0072562	Component	Blood microparticle	HDA	22516433
GO:0098885	Process	Modification of postsynaptic actin cytoskeleton	IEA
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0110053	Process	Regulation of actin filament organization	IEA
GO:1900029	Process	Positive regulation of ruffle assembly	IMP	23153535

MIM	HGNC	e!Ensembl
176610	8881	ENSG00000108518

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

MAGWNAYIDNLMADGTCQDAAIVGYKDSPSVWAAVPGKTFVNITPAEVGVLVGKDRSSFY
VNGLTLGGQKCSVIRDSLLQDGEFSMDLRTKSTGGAPTFNVTVTKTDKTLVLLMGKEGVH
GGLINKKCYEMASHLRRSQY

Sequence length

140

Interactions

View interactions

	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

Show/Hide Causal Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Amyotrophic lateral sclerosis type 18	Likely pathogenic; Pathogenic	rs2151134645, rs387907264, rs387907265, rs387907266	RCV002471256 RCV000030694 RCV000030695 RCV000030696
Lower limb muscle weakness	Likely pathogenic	rs387907265	RCV000415115
Neurodegeneration	Likely pathogenic	rs2151134645	RCV002221386
PFN1-related disorder	Pathogenic	rs387907265	RCV004755752

Show/Hide Unknown Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Amyotrophic lateral sclerosis	Uncertain significance	rs769909149, rs763837842	RCV001843925 RCV001095491

Show/Hide Text Mining Associations (63)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
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, 36747013 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
Carcinoma Basal Cell	Associate	29333087
Carcinoma Hepatocellular	Associate	29391759
Carcinoma Renal Cell	Associate	23082029, 27128972
Cognition Disorders	Associate	23141414
Corneal Diseases	Associate	31513338
Depressive Disorder Major	Associate	35821008
DNA Repair Deficiency Disorders	Associate	33590416
Drug Related Side Effects and Adverse Reactions	Associate	28847504
Drug Related Side Effects and Adverse Reactions	Inhibit	32127471
Esophageal Squamous Cell Carcinoma	Associate	25337239
Fibrosis	Associate	35269714
Frontotemporal Dementia	Associate	23063648, 23634771, 24309268
GSD IV Neuromuscular Form Fatal Perinatal	Associate	29760185
Huntington Disease	Associate	32127471
Inflammation	Associate	37708957
Intellectual Disability	Associate	35313204
Iron Overload	Associate	38128927
Laryngeal Neoplasms	Associate	24587265
Leukemia Megakaryoblastic Acute	Associate	28546428
Liver Neoplasms	Associate	29760185, 31216283, 33767237
Lymphatic Metastasis	Associate	25741138, 27862305
Lymphoproliferative Disorders	Inhibit	20618332
Mammary Neoplasms Animal	Associate	24520372
Motor Neuron Disease	Associate	23141414, 31216283
Mucopolysaccharidosis I	Associate	39769211
Mucopolysaccharidosis III	Associate	39735993
Mucopolysaccharidosis IV	Associate	39735993
Multiple Myeloma	Associate	29945297
Nasopharyngeal Carcinoma	Inhibit	18384219
Neoplasm Invasiveness	Inhibit	21115820
Neoplasm Metastasis	Associate	24587265, 25048347, 27496138, 27862305, 30092744
Neoplasms	Inhibit	18937284, 19593789, 20143334, 21692986, 23326535, 25681442, 26325675, 27862305
Neoplasms	Associate	22159600, 22415225, 22761335, 25741138, 27496138, 28688208, 37753805
Nerve Degeneration	Associate	23141414, 28847504, 30166578
Neurodegenerative Diseases	Associate	35688275, 37576538
Neurotoxicity Syndromes	Associate	30166578, 30203378, 33767237
Osteitis Deformans	Associate	31991009
Osteosarcoma	Associate	31991009
Ovarian Neoplasms	Associate	25927284
Pain	Associate	34608709
Pancreatic Neoplasms	Inhibit	16215274, 28688208
Pancreatic Neoplasms	Associate	25502777
Placenta Accreta	Associate	30092744
Pre Eclampsia	Associate	36160709
Prostatic Neoplasms	Associate	23326535, 26325675
Squamous Cell Carcinoma of Head and Neck	Associate	27862305, 40171814
Stomach Neoplasms	Associate	25741138
TDP 43 Proteinopathies	Associate	27432186
Thrombocytopenia	Associate	35313204
Triple Negative Breast Neoplasms	Associate	23430586
Urinary Bladder Neoplasms	Associate	22159600, 26889680, 26955879, 34121689
Vascular Diseases	Associate	36160709
Vascular System Injuries	Associate	36160709

PFN1 (profilin 1)