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ZMPSTE24 (zinc metallopeptidase STE24)

Gene

10269

Zinc metallopeptidase STE24

ZMPSTE24

FACE-1, FACE1, HGPS, PRO1, RSDM1, STE24, Ste24p

1p34.2

This gene encodes a member of the peptidase M48A family. The encoded protein is a zinc metalloproteinase involved in the two step post-translational proteolytic cleavage of carboxy terminal residues of farnesylated prelamin A to form mature lamin A. Mutat

Show/Hide all(18)

SNP ID	Visualize variation	Clinical significance	Consequence
rs61751009	G>A	Pathogenic	Splice acceptor variant
rs121908093	T>C	Pathogenic, not-provided	Non coding transcript variant, missense variant, coding sequence variant
rs121908094	C>T	Pathogenic, not-provided	Stop gained, non coding transcript variant, coding sequence variant
rs121908095	C>G,T	Pathogenic, not-provided	Non coding transcript variant, missense variant, coding sequence variant
rs137854889	T>-,TT	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs150740479	A>G	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, non coding transcript variant
rs267607181	G>A,T	Pathogenic, not-provided	Non coding transcript variant, missense variant, coding sequence variant, stop gained
rs281875360	A>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs281875361	->T	Pathogenic, not-provided	Non coding transcript variant, coding sequence variant, frameshift variant
rs281875367	->T	Pathogenic, not-provided	Non coding transcript variant, coding sequence variant, frameshift variant
rs281875375	->T	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs281875376	G>A	Pathogenic, not-provided	Non coding transcript variant, coding sequence variant, stop gained
rs750229142	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, synonymous variant
rs786205123	AT>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs886044057	A>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1431637197	T>A,G	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1569668526	TTCTAGATGAATTCTTTCCTGTGTTTTTTTTT>-	Pathogenic	Intron variant, non coding transcript variant, splice acceptor variant, coding sequence variant
rs1569671504	->T	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant

Show/Hide all(373)

miRTarBase ID	miRNA	Experiments	Reference
MIRT004942	hsa-miR-98-5p	qRT-PCR	17942906
MIRT022576	hsa-miR-124-3p	Microarray	18668037
MIRT438256	hsa-miR-141-3p	Luciferase reporter assay	24101728
MIRT438256	hsa-miR-141-3p	Luciferase reporter assay	24101728
MIRT1514642	hsa-miR-1226	CLIP-seq
MIRT1514643	hsa-miR-124	CLIP-seq
MIRT1514644	hsa-miR-1252	CLIP-seq
MIRT1514645	hsa-miR-1265	CLIP-seq
MIRT1514646	hsa-miR-1297	CLIP-seq
MIRT1514647	hsa-miR-141	CLIP-seq
MIRT1514648	hsa-miR-1914	CLIP-seq
MIRT1514649	hsa-miR-197	CLIP-seq
MIRT1514650	hsa-miR-200a	CLIP-seq
MIRT1514651	hsa-miR-224	CLIP-seq
MIRT1514652	hsa-miR-2682	CLIP-seq
MIRT1514653	hsa-miR-26a	CLIP-seq
MIRT1514654	hsa-miR-26b	CLIP-seq
MIRT1514655	hsa-miR-3138	CLIP-seq
MIRT1514656	hsa-miR-3171	CLIP-seq
MIRT1514657	hsa-miR-3187-3p	CLIP-seq
MIRT1514658	hsa-miR-339-5p	CLIP-seq
MIRT1514659	hsa-miR-3607-5p	CLIP-seq
MIRT1514660	hsa-miR-3611	CLIP-seq
MIRT1514661	hsa-miR-3614-3p	CLIP-seq
MIRT1514662	hsa-miR-361-5p	CLIP-seq
MIRT1514663	hsa-miR-3617	CLIP-seq
MIRT1514664	hsa-miR-3646	CLIP-seq
MIRT1514665	hsa-miR-3653	CLIP-seq
MIRT1514666	hsa-miR-3658	CLIP-seq
MIRT1514667	hsa-miR-3667-5p	CLIP-seq
MIRT1514668	hsa-miR-3714	CLIP-seq
MIRT1514669	hsa-miR-3913-3p	CLIP-seq
MIRT1514670	hsa-miR-4268	CLIP-seq
MIRT1514671	hsa-miR-4272	CLIP-seq
MIRT1514672	hsa-miR-4276	CLIP-seq
MIRT1514673	hsa-miR-4302	CLIP-seq
MIRT1514674	hsa-miR-4446-5p	CLIP-seq
MIRT1514675	hsa-miR-4448	CLIP-seq
MIRT1514676	hsa-miR-4465	CLIP-seq
MIRT1514677	hsa-miR-4469	CLIP-seq
MIRT1514678	hsa-miR-4476	CLIP-seq
MIRT1514679	hsa-miR-4477a	CLIP-seq
MIRT1514680	hsa-miR-4484	CLIP-seq
MIRT1514681	hsa-miR-4496	CLIP-seq
MIRT1514682	hsa-miR-449c	CLIP-seq
MIRT1514683	hsa-miR-4517	CLIP-seq
MIRT1514684	hsa-miR-4519	CLIP-seq
MIRT1514685	hsa-miR-4520a-3p	CLIP-seq
MIRT1514686	hsa-miR-4529-5p	CLIP-seq
MIRT1514687	hsa-miR-4533	CLIP-seq
MIRT1514688	hsa-miR-4663	CLIP-seq
MIRT1514689	hsa-miR-4699-3p	CLIP-seq
MIRT1514690	hsa-miR-4733-3p	CLIP-seq
MIRT1514691	hsa-miR-4755-5p	CLIP-seq
MIRT1514692	hsa-miR-4756-3p	CLIP-seq
MIRT1514693	hsa-miR-4765	CLIP-seq
MIRT1514694	hsa-miR-4795-3p	CLIP-seq
MIRT1514695	hsa-miR-4796-3p	CLIP-seq
MIRT1514696	hsa-miR-488	CLIP-seq
MIRT1514697	hsa-miR-498	CLIP-seq
MIRT1514698	hsa-miR-499-3p	CLIP-seq
MIRT1514699	hsa-miR-499a-3p	CLIP-seq
MIRT1514700	hsa-miR-506	CLIP-seq
MIRT1514701	hsa-miR-548an	CLIP-seq
MIRT1514702	hsa-miR-548h	CLIP-seq
MIRT1514703	hsa-miR-548j	CLIP-seq
MIRT1514704	hsa-miR-548p	CLIP-seq
MIRT1514705	hsa-miR-548u	CLIP-seq
MIRT1514706	hsa-miR-577	CLIP-seq
MIRT1514707	hsa-miR-584	CLIP-seq
MIRT1514708	hsa-miR-630	CLIP-seq
MIRT1514709	hsa-miR-641	CLIP-seq
MIRT1514710	hsa-miR-642a	CLIP-seq
MIRT1514711	hsa-miR-670	CLIP-seq
MIRT1514712	hsa-miR-889	CLIP-seq
MIRT1514713	hsa-miR-944	CLIP-seq
MIRT2155413	hsa-miR-1208	CLIP-seq
MIRT1514643	hsa-miR-124	CLIP-seq
MIRT1514644	hsa-miR-1252	CLIP-seq
MIRT1514651	hsa-miR-224	CLIP-seq
MIRT2155414	hsa-miR-3149	CLIP-seq
MIRT1514662	hsa-miR-361-5p	CLIP-seq
MIRT2155415	hsa-miR-3692	CLIP-seq
MIRT1514671	hsa-miR-4272	CLIP-seq
MIRT2155416	hsa-miR-4436a	CLIP-seq
MIRT1514678	hsa-miR-4476	CLIP-seq
MIRT2155417	hsa-miR-450b-3p	CLIP-seq
MIRT2155418	hsa-miR-452	CLIP-seq
MIRT1514687	hsa-miR-4533	CLIP-seq
MIRT2155419	hsa-miR-4676-3p	CLIP-seq
MIRT2155420	hsa-miR-4713-3p	CLIP-seq
MIRT2155421	hsa-miR-4777-3p	CLIP-seq
MIRT1514700	hsa-miR-506	CLIP-seq
MIRT1514701	hsa-miR-548an	CLIP-seq
MIRT1514705	hsa-miR-548u	CLIP-seq
MIRT1514706	hsa-miR-577	CLIP-seq
MIRT1514708	hsa-miR-630	CLIP-seq
MIRT2155422	hsa-miR-638	CLIP-seq
MIRT2155423	hsa-miR-769-3p	CLIP-seq
MIRT2155413	hsa-miR-1208	CLIP-seq
MIRT1514644	hsa-miR-1252	CLIP-seq
MIRT1514651	hsa-miR-224	CLIP-seq
MIRT1514652	hsa-miR-2682	CLIP-seq
MIRT2375146	hsa-miR-3074-5p	CLIP-seq
MIRT2375147	hsa-miR-3124-3p	CLIP-seq
MIRT2375148	hsa-miR-3148	CLIP-seq
MIRT2375149	hsa-miR-3153	CLIP-seq
MIRT2375150	hsa-miR-3156-3p	CLIP-seq
MIRT2375151	hsa-miR-3174	CLIP-seq
MIRT1514662	hsa-miR-361-5p	CLIP-seq
MIRT2375152	hsa-miR-3622a-5p	CLIP-seq
MIRT2375153	hsa-miR-3673	CLIP-seq
MIRT2155415	hsa-miR-3692	CLIP-seq
MIRT1514668	hsa-miR-3714	CLIP-seq
MIRT2375154	hsa-miR-4252	CLIP-seq
MIRT1514672	hsa-miR-4276	CLIP-seq
MIRT2375155	hsa-miR-4301	CLIP-seq
MIRT2375156	hsa-miR-4423-3p	CLIP-seq
MIRT1514677	hsa-miR-4469	CLIP-seq
MIRT1514678	hsa-miR-4476	CLIP-seq
MIRT1514682	hsa-miR-449c	CLIP-seq
MIRT2155418	hsa-miR-452	CLIP-seq
MIRT1514685	hsa-miR-4520a-3p	CLIP-seq
MIRT1514687	hsa-miR-4533	CLIP-seq
MIRT2375157	hsa-miR-4668-5p	CLIP-seq
MIRT2155419	hsa-miR-4676-3p	CLIP-seq
MIRT2375158	hsa-miR-4704-3p	CLIP-seq
MIRT2375159	hsa-miR-4717-3p	CLIP-seq
MIRT2375160	hsa-miR-4727-5p	CLIP-seq
MIRT1514692	hsa-miR-4756-3p	CLIP-seq
MIRT1514693	hsa-miR-4765	CLIP-seq
MIRT2375161	hsa-miR-4769-3p	CLIP-seq
MIRT1514701	hsa-miR-548an	CLIP-seq
MIRT1514705	hsa-miR-548u	CLIP-seq
MIRT1514706	hsa-miR-577	CLIP-seq
MIRT2375162	hsa-miR-640	CLIP-seq
MIRT1514710	hsa-miR-642a	CLIP-seq
MIRT2375163	hsa-miR-645	CLIP-seq
MIRT2464023	hsa-miR-1290	CLIP-seq
MIRT2464024	hsa-miR-3613-3p	CLIP-seq
MIRT2464025	hsa-miR-4462	CLIP-seq
MIRT2464023	hsa-miR-1290	CLIP-seq
MIRT1514655	hsa-miR-3138	CLIP-seq
MIRT2464024	hsa-miR-3613-3p	CLIP-seq
MIRT2464025	hsa-miR-4462	CLIP-seq
MIRT1514684	hsa-miR-4519	CLIP-seq
MIRT1514685	hsa-miR-4520a-3p	CLIP-seq
MIRT1514692	hsa-miR-4756-3p	CLIP-seq
MIRT1514642	hsa-miR-1226	CLIP-seq
MIRT1514643	hsa-miR-124	CLIP-seq
MIRT1514644	hsa-miR-1252	CLIP-seq
MIRT2667649	hsa-miR-1253	CLIP-seq
MIRT2667650	hsa-miR-125a-3p	CLIP-seq
MIRT1514645	hsa-miR-1265	CLIP-seq
MIRT2464023	hsa-miR-1290	CLIP-seq
MIRT1514646	hsa-miR-1297	CLIP-seq
MIRT2667651	hsa-miR-1913	CLIP-seq
MIRT1514649	hsa-miR-197	CLIP-seq
MIRT2667652	hsa-miR-1972	CLIP-seq
MIRT2667653	hsa-miR-217	CLIP-seq
MIRT1514653	hsa-miR-26a	CLIP-seq
MIRT1514654	hsa-miR-26b	CLIP-seq
MIRT2667654	hsa-miR-30a	CLIP-seq
MIRT2667655	hsa-miR-30b	CLIP-seq
MIRT2667656	hsa-miR-30c	CLIP-seq
MIRT2667657	hsa-miR-30d	CLIP-seq
MIRT2667658	hsa-miR-30e	CLIP-seq
MIRT1514655	hsa-miR-3138	CLIP-seq
MIRT2667659	hsa-miR-3143	CLIP-seq
MIRT2155414	hsa-miR-3149	CLIP-seq
MIRT2375149	hsa-miR-3153	CLIP-seq
MIRT2667660	hsa-miR-3163	CLIP-seq
MIRT1514656	hsa-miR-3171	CLIP-seq
MIRT2667661	hsa-miR-3182	CLIP-seq
MIRT2667662	hsa-miR-3185	CLIP-seq
MIRT1514657	hsa-miR-3187-3p	CLIP-seq
MIRT2667663	hsa-miR-324-3p	CLIP-seq
MIRT1514658	hsa-miR-339-5p	CLIP-seq
MIRT2464024	hsa-miR-3613-3p	CLIP-seq
MIRT2375152	hsa-miR-3622a-5p	CLIP-seq
MIRT1514664	hsa-miR-3646	CLIP-seq
MIRT2667664	hsa-miR-3662	CLIP-seq
MIRT2667665	hsa-miR-3663-3p	CLIP-seq
MIRT1514667	hsa-miR-3667-5p	CLIP-seq
MIRT2667666	hsa-miR-3676	CLIP-seq
MIRT2375154	hsa-miR-4252	CLIP-seq
MIRT1514671	hsa-miR-4272	CLIP-seq
MIRT2667667	hsa-miR-4282	CLIP-seq
MIRT2667668	hsa-miR-4311	CLIP-seq
MIRT2667669	hsa-miR-433	CLIP-seq
MIRT2667670	hsa-miR-4418	CLIP-seq
MIRT2375156	hsa-miR-4423-3p	CLIP-seq
MIRT1514674	hsa-miR-4446-5p	CLIP-seq
MIRT2464025	hsa-miR-4462	CLIP-seq
MIRT1514676	hsa-miR-4465	CLIP-seq
MIRT2155417	hsa-miR-450b-3p	CLIP-seq
MIRT2667671	hsa-miR-4511	CLIP-seq
MIRT1514683	hsa-miR-4517	CLIP-seq
MIRT1514684	hsa-miR-4519	CLIP-seq
MIRT1514685	hsa-miR-4520a-3p	CLIP-seq
MIRT1514686	hsa-miR-4529-5p	CLIP-seq
MIRT2667672	hsa-miR-4650-5p	CLIP-seq
MIRT1514688	hsa-miR-4663	CLIP-seq
MIRT2375157	hsa-miR-4668-5p	CLIP-seq
MIRT1514689	hsa-miR-4699-3p	CLIP-seq
MIRT2155420	hsa-miR-4713-3p	CLIP-seq
MIRT2375160	hsa-miR-4727-5p	CLIP-seq
MIRT1514690	hsa-miR-4733-3p	CLIP-seq
MIRT1514691	hsa-miR-4755-5p	CLIP-seq
MIRT1514692	hsa-miR-4756-3p	CLIP-seq
MIRT1514693	hsa-miR-4765	CLIP-seq
MIRT2667673	hsa-miR-4775	CLIP-seq
MIRT2155421	hsa-miR-4777-3p	CLIP-seq
MIRT2667674	hsa-miR-4780	CLIP-seq
MIRT2667675	hsa-miR-4793-5p	CLIP-seq
MIRT1514694	hsa-miR-4795-3p	CLIP-seq
MIRT1514695	hsa-miR-4796-3p	CLIP-seq
MIRT2667676	hsa-miR-4803	CLIP-seq
MIRT1514696	hsa-miR-488	CLIP-seq
MIRT2667677	hsa-miR-494	CLIP-seq
MIRT1514697	hsa-miR-498	CLIP-seq
MIRT1514700	hsa-miR-506	CLIP-seq
MIRT2667678	hsa-miR-509-3-5p	CLIP-seq
MIRT2667679	hsa-miR-509-5p	CLIP-seq
MIRT2667680	hsa-miR-520d-5p	CLIP-seq
MIRT2667681	hsa-miR-520g	CLIP-seq
MIRT2667682	hsa-miR-524-5p	CLIP-seq
MIRT2667683	hsa-miR-548a-3p	CLIP-seq
MIRT2667684	hsa-miR-548ac	CLIP-seq
MIRT2667685	hsa-miR-548ae	CLIP-seq
MIRT2667686	hsa-miR-548aj	CLIP-seq
MIRT2667687	hsa-miR-548am	CLIP-seq
MIRT1514701	hsa-miR-548an	CLIP-seq
MIRT2667688	hsa-miR-548c-3p	CLIP-seq
MIRT2667689	hsa-miR-548d-3p	CLIP-seq
MIRT2667690	hsa-miR-548e	CLIP-seq
MIRT2667691	hsa-miR-548f	CLIP-seq
MIRT1514702	hsa-miR-548h	CLIP-seq
MIRT1514703	hsa-miR-548j	CLIP-seq
MIRT2667692	hsa-miR-548n	CLIP-seq
MIRT1514704	hsa-miR-548p	CLIP-seq
MIRT2667693	hsa-miR-548x	CLIP-seq
MIRT2667694	hsa-miR-548z	CLIP-seq
MIRT2667695	hsa-miR-570	CLIP-seq
MIRT1514706	hsa-miR-577	CLIP-seq
MIRT2667696	hsa-miR-590-3p	CLIP-seq
MIRT1514708	hsa-miR-630	CLIP-seq
MIRT2155422	hsa-miR-638	CLIP-seq
MIRT2375163	hsa-miR-645	CLIP-seq
MIRT1514711	hsa-miR-670	CLIP-seq
MIRT2155423	hsa-miR-769-3p	CLIP-seq
MIRT2667697	hsa-miR-875-3p	CLIP-seq
MIRT1514712	hsa-miR-889	CLIP-seq
MIRT2667698	hsa-miR-938	CLIP-seq
MIRT2155413	hsa-miR-1208	CLIP-seq
MIRT1514642	hsa-miR-1226	CLIP-seq
MIRT1514643	hsa-miR-124	CLIP-seq
MIRT1514644	hsa-miR-1252	CLIP-seq
MIRT2667649	hsa-miR-1253	CLIP-seq
MIRT2667650	hsa-miR-125a-3p	CLIP-seq
MIRT1514645	hsa-miR-1265	CLIP-seq
MIRT2464023	hsa-miR-1290	CLIP-seq
MIRT1514646	hsa-miR-1297	CLIP-seq
MIRT2667651	hsa-miR-1913	CLIP-seq
MIRT1514649	hsa-miR-197	CLIP-seq
MIRT2667652	hsa-miR-1972	CLIP-seq
MIRT2667653	hsa-miR-217	CLIP-seq
MIRT1514652	hsa-miR-2682	CLIP-seq
MIRT1514653	hsa-miR-26a	CLIP-seq
MIRT1514654	hsa-miR-26b	CLIP-seq
MIRT2667654	hsa-miR-30a	CLIP-seq
MIRT2667655	hsa-miR-30b	CLIP-seq
MIRT2667656	hsa-miR-30c	CLIP-seq
MIRT2667657	hsa-miR-30d	CLIP-seq
MIRT2667658	hsa-miR-30e	CLIP-seq
MIRT1514655	hsa-miR-3138	CLIP-seq
MIRT2667659	hsa-miR-3143	CLIP-seq
MIRT2375148	hsa-miR-3148	CLIP-seq
MIRT2155414	hsa-miR-3149	CLIP-seq
MIRT2375149	hsa-miR-3153	CLIP-seq
MIRT2667660	hsa-miR-3163	CLIP-seq
MIRT1514656	hsa-miR-3171	CLIP-seq
MIRT2667661	hsa-miR-3182	CLIP-seq
MIRT2667662	hsa-miR-3185	CLIP-seq
MIRT1514657	hsa-miR-3187-3p	CLIP-seq
MIRT2667663	hsa-miR-324-3p	CLIP-seq
MIRT1514658	hsa-miR-339-5p	CLIP-seq
MIRT2464024	hsa-miR-3613-3p	CLIP-seq
MIRT1514662	hsa-miR-361-5p	CLIP-seq
MIRT2375152	hsa-miR-3622a-5p	CLIP-seq
MIRT1514664	hsa-miR-3646	CLIP-seq
MIRT2667664	hsa-miR-3662	CLIP-seq
MIRT2667665	hsa-miR-3663-3p	CLIP-seq
MIRT1514667	hsa-miR-3667-5p	CLIP-seq
MIRT2667666	hsa-miR-3676	CLIP-seq
MIRT2155415	hsa-miR-3692	CLIP-seq
MIRT1514668	hsa-miR-3714	CLIP-seq
MIRT2695728	hsa-miR-3920	CLIP-seq
MIRT2375154	hsa-miR-4252	CLIP-seq
MIRT1514671	hsa-miR-4272	CLIP-seq
MIRT2667667	hsa-miR-4282	CLIP-seq
MIRT2667668	hsa-miR-4311	CLIP-seq
MIRT2667669	hsa-miR-433	CLIP-seq
MIRT2667670	hsa-miR-4418	CLIP-seq
MIRT2375156	hsa-miR-4423-3p	CLIP-seq
MIRT2155416	hsa-miR-4436a	CLIP-seq
MIRT1514674	hsa-miR-4446-5p	CLIP-seq
MIRT2464025	hsa-miR-4462	CLIP-seq
MIRT1514676	hsa-miR-4465	CLIP-seq
MIRT1514678	hsa-miR-4476	CLIP-seq
MIRT1514682	hsa-miR-449c	CLIP-seq
MIRT2155417	hsa-miR-450b-3p	CLIP-seq
MIRT2667671	hsa-miR-4511	CLIP-seq
MIRT1514683	hsa-miR-4517	CLIP-seq
MIRT1514684	hsa-miR-4519	CLIP-seq
MIRT2155418	hsa-miR-452	CLIP-seq
MIRT1514685	hsa-miR-4520a-3p	CLIP-seq
MIRT1514686	hsa-miR-4529-5p	CLIP-seq
MIRT1514687	hsa-miR-4533	CLIP-seq
MIRT2667672	hsa-miR-4650-5p	CLIP-seq
MIRT1514688	hsa-miR-4663	CLIP-seq
MIRT2375157	hsa-miR-4668-5p	CLIP-seq
MIRT2155419	hsa-miR-4676-3p	CLIP-seq
MIRT1514689	hsa-miR-4699-3p	CLIP-seq
MIRT2155420	hsa-miR-4713-3p	CLIP-seq
MIRT2375160	hsa-miR-4727-5p	CLIP-seq
MIRT1514690	hsa-miR-4733-3p	CLIP-seq
MIRT1514691	hsa-miR-4755-5p	CLIP-seq
MIRT1514692	hsa-miR-4756-3p	CLIP-seq
MIRT1514693	hsa-miR-4765	CLIP-seq
MIRT2667673	hsa-miR-4775	CLIP-seq
MIRT2155421	hsa-miR-4777-3p	CLIP-seq
MIRT2667674	hsa-miR-4780	CLIP-seq
MIRT2667675	hsa-miR-4793-5p	CLIP-seq
MIRT1514694	hsa-miR-4795-3p	CLIP-seq
MIRT1514695	hsa-miR-4796-3p	CLIP-seq
MIRT2667676	hsa-miR-4803	CLIP-seq
MIRT1514696	hsa-miR-488	CLIP-seq
MIRT2667677	hsa-miR-494	CLIP-seq
MIRT1514697	hsa-miR-498	CLIP-seq
MIRT1514700	hsa-miR-506	CLIP-seq
MIRT2667678	hsa-miR-509-3-5p	CLIP-seq
MIRT2667679	hsa-miR-509-5p	CLIP-seq
MIRT2667680	hsa-miR-520d-5p	CLIP-seq
MIRT2667681	hsa-miR-520g	CLIP-seq
MIRT2667682	hsa-miR-524-5p	CLIP-seq
MIRT2667683	hsa-miR-548a-3p	CLIP-seq
MIRT2667684	hsa-miR-548ac	CLIP-seq
MIRT2667685	hsa-miR-548ae	CLIP-seq
MIRT2667686	hsa-miR-548aj	CLIP-seq
MIRT2667687	hsa-miR-548am	CLIP-seq
MIRT1514701	hsa-miR-548an	CLIP-seq
MIRT2667688	hsa-miR-548c-3p	CLIP-seq
MIRT2667689	hsa-miR-548d-3p	CLIP-seq
MIRT2667690	hsa-miR-548e	CLIP-seq
MIRT2667691	hsa-miR-548f	CLIP-seq
MIRT1514702	hsa-miR-548h	CLIP-seq
MIRT1514703	hsa-miR-548j	CLIP-seq
MIRT2667692	hsa-miR-548n	CLIP-seq
MIRT1514704	hsa-miR-548p	CLIP-seq
MIRT2667693	hsa-miR-548x	CLIP-seq
MIRT2667694	hsa-miR-548z	CLIP-seq
MIRT2667695	hsa-miR-570	CLIP-seq
MIRT1514706	hsa-miR-577	CLIP-seq
MIRT2667696	hsa-miR-590-3p	CLIP-seq
MIRT1514708	hsa-miR-630	CLIP-seq
MIRT2155422	hsa-miR-638	CLIP-seq
MIRT2375163	hsa-miR-645	CLIP-seq
MIRT1514711	hsa-miR-670	CLIP-seq
MIRT2155423	hsa-miR-769-3p	CLIP-seq
MIRT2667697	hsa-miR-875-3p	CLIP-seq
MIRT1514712	hsa-miR-889	CLIP-seq
MIRT2667698	hsa-miR-938	CLIP-seq

Show/Hide all(59)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001889	Process	Liver development	IEA
GO:0001942	Process	Hair follicle development	IEA
GO:0003007	Process	Heart morphogenesis	IEA
GO:0003229	Process	Ventricular cardiac muscle tissue development	IEA
GO:0003231	Process	Cardiac ventricle development	IEA
GO:0003417	Process	Growth plate cartilage development	IEA
GO:0003690	Function	Double-stranded DNA binding	IEA
GO:0004222	Function	Metalloendopeptidase activity	IBA	21873635
GO:0005515	Function	Protein binding	IPI	23539603, 28169297
GO:0005637	Component	Nuclear inner membrane	IEA
GO:0006281	Process	DNA repair	IEA
GO:0006508	Process	Proteolysis	TAS	10373325
GO:0006925	Process	Inflammatory cell apoptotic process	IEA
GO:0006998	Process	Nuclear envelope organization	IEA
GO:0007628	Process	Adult walking behavior	IEA
GO:0008235	Function	Metalloexopeptidase activity	TAS	10373325
GO:0008340	Process	Determination of adult lifespan	IEA
GO:0008360	Process	Regulation of cell shape	IEA
GO:0010506	Process	Regulation of autophagy	IEA
GO:0010906	Process	Regulation of glucose metabolic process	IEA
GO:0016020	Component	Membrane	HDA	19946888
GO:0019216	Process	Regulation of lipid metabolic process	IEA
GO:0030176	Component	Integral component of endoplasmic reticulum membrane	IBA	21873635
GO:0030282	Process	Bone mineralization	IEA
GO:0030327	Process	Prenylated protein catabolic process	IEA
GO:0030500	Process	Regulation of bone mineralization	IEA
GO:0032006	Process	Regulation of TOR signaling	IEA
GO:0032350	Process	Regulation of hormone metabolic process	IEA
GO:0032991	Component	Protein-containing complex	IDA	28246125
GO:0035264	Process	Multicellular organism growth	IEA
GO:0040014	Process	Regulation of multicellular organism growth	IEA
GO:0043007	Process	Maintenance of rDNA	IEA
GO:0043516	Process	Regulation of DNA damage response, signal transduction by p53 class mediator	IEA
GO:0043979	Process	Histone H2B-K5 acetylation	IEA
GO:0044029	Process	Hypomethylation of CpG island	IEA
GO:0044255	Process	Cellular lipid metabolic process	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0048145	Process	Regulation of fibroblast proliferation	IEA
GO:0048538	Process	Thymus development	IEA
GO:0048739	Process	Cardiac muscle fiber development	IEA
GO:0050688	Process	Regulation of defense response to virus	IDA	28246125
GO:0050905	Process	Neuromuscular process	IEA
GO:0060307	Process	Regulation of ventricular cardiac muscle cell membrane repolarization	IEA
GO:0060993	Process	Kidney morphogenesis	IEA
GO:0061337	Process	Cardiac conduction	IEA
GO:0061762	Process	CAMKK-AMPK signaling cascade	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867
GO:0070302	Process	Regulation of stress-activated protein kinase signaling cascade	IEA
GO:0071480	Process	Cellular response to gamma radiation	IEA
GO:0071586	Process	CAAX-box protein processing	IBA	21873635
GO:0072423	Process	Response to DNA damage checkpoint signaling	IEA
GO:1903025	Process	Regulation of RNA polymerase II regulatory region sequence-specific DNA binding	IEA
GO:1903463	Process	Regulation of mitotic cell cycle DNA replication	IEA
GO:1903799	Process	Negative regulation of production of miRNAs involved in gene silencing by miRNA	IEA
GO:1990036	Process	Calcium ion import into sarcoplasmic reticulum	IEA
GO:1990164	Process	Histone H2A phosphorylation	IEA
GO:2000618	Process	Regulation of histone H4-K16 acetylation	IEA
GO:2000730	Process	Regulation of termination of RNA polymerase I transcription	IEA
GO:2000772	Process	Regulation of cellular senescence	IEA

MIM	HGNC	e!Ensembl
606480	12877	ENSG00000084073

Protein

UniProt ID

O75844

Protein name

CAAX prenyl protease 1 homolog (EC 3.4.24.84) (Farnesylated proteins-converting enzyme 1) (FACE-1) (Prenyl protein-specific endoprotease 1) (Zinc metalloproteinase Ste24 homolog)

Protein function

Transmembrane metalloprotease whose catalytic activity is critical for processing lamin A/LMNA on the inner nuclear membrane and clearing clogged translocons on the endoplasmic reticulum (PubMed:33293369, PubMed:33315887). Proteolytically remove

PDB

2YPT , 4AW6 , 5SYT , 6BH8

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF16491	Peptidase_M48_N	41 → 225	CAAX prenyl protease N-terminal, five membrane helices	Domain
PF01435	Peptidase_M48	228 → 473	Peptidase family M48	Domain

Sequence

MGMWASLDALWEMPAEKRIFGAVLLFSWTVYLWETFLAQRQRRIYKTTTHVPPELGQIMD
SETFEKSRLYQLDKSTFSFWSGLYSETEGTLILLFGGIPYLWRLSGRFCGYAGFGPEYEI
TQSLVFLLLATLFSALTGLPWSLYNTFVIEEKHGFNQQTLGFFMKDAIKKFVVTQCILLP
VSSLLLYIIKIGGDYFFIYAWLFTLVVSLVLVTIYADYIAPLFDKFTPLPEGKLKEEIEV
MAKSIDFPLTKVYVVEGSKRSSHSNAYFYGFFKNKRIVLFDTLLEEYSVLNKDIQEDSGM
EPRNEEEGNSEEIKAKVKNKKQGCKNEEVLAVLGHELGHWKLGHTVKNIIISQMNSFLCF
FLFAVLIGRKELFAAFGFYDSQPTLIGLLIIFQFIFSPYNEVLSFCLTVLSRRFEFQADA
FAKKLGKAKDLYSALIKLNKDNLGFPVSDWLFSMWHYSHPPLLERLQALKTMKQH

Sequence length

475

Interactions

View interactions

	KEGG
	Terpenoid backbone biosynthesis

Associated diseases

Show/Hide Causal Diseases (20)

Causal
Disease name	Disease term	dbSNP ID	References
Arthritis	Degenerative polyarthritis	rs1594890601, rs1594882933, rs184370809, rs776489319, rs1594883470
Arthrogryposis multiplex congenita	Arthrogryposis	rs1586285494, rs80358233, rs137853305, rs1559154278, rs398124167, rs398124172, rs587780399, rs786204576, rs786204430, rs769345284, rs749355583, rs793888524, rs793888525, rs878854368, rs555445835, rs758105619, rs886041851, rs794727136, rs755239192, rs760715690, rs773952935, rs112610938, rs1057516676, rs1057516996, rs780022652, rs1057517399, rs1057517360, rs1057518353, rs1057517977, rs1064796311, rs779232987, rs775997446, rs1064797093, rs1064797094, rs1064797095, rs755500591, rs754272530, rs758247804, rs200731870, rs747179265, rs1553740233, rs776569219, rs375628303, rs775631800, rs781667543, rs1553548666, rs928945364, rs763364977, rs1458048713, rs1553883480, rs1472403020, rs1336053002, rs202048855, rs1197561990, rs755531536, rs1554112524, rs762133567, rs1553555882, rs934111355, rs1255744452, rs1366269616, rs1555734932, rs1553548207, rs752582527, rs1257495033, rs113525641, rs755863625, rs374929094, rs539819851, rs1366853918, rs1218073575, rs1553537512, rs1553552384, rs747564597, rs776059611, rs756726488, rs1357811155, rs1553939600, rs772009599, rs1255445731, rs1011425121, rs1553561697, rs1553551748, rs1553552413, rs760935667, rs1553603400, rs1302373559, rs1389892619, rs1553710982, rs757157808, rs1180339426, rs761964375, rs1235589246, rs1443738549, rs1553934586, rs1553934597, rs1553603437, rs749452641, rs1553904694, rs754369875, rs112517981, rs774495973, rs1428597732, rs746999970, rs113091511, rs1553603958, rs1553469502, rs770797137, rs1553608621, rs1159756073, rs776167256, rs778593702, rs1553601066, rs1553689774, rs760768475, rs1559296376, rs201636991, rs1559039815, rs748922882, rs772366030, rs1207534366, rs1259297878, rs762780413, rs1559360386, rs1559940778, rs760200697, rs1344099907, rs750900690, rs1559168230, rs746177326, rs761067911, rs1323364980, rs537560378, rs1319778592, rs1340063197, rs1577833924, rs750585238, rs1600470099, rs1575714905, rs1576203853, rs779909544, rs760124743, rs2096362304, rs1212374733, rs1490309743, rs767709270, rs1374971806, rs2096491549, rs2097886912, rs2099021112, rs2097758221, rs1474341248, rs925947627
Atrial septal defect	Atrial Septal Defects	rs137852951, rs137852953, rs137852955, rs267607106, rs104893900, rs104893901, rs104893903, rs606231358, rs606231359, rs137852683, rs606231360, rs104893907, rs104894073, rs1585703301, rs104894074, rs267606903, rs121912677, rs387906585, rs387906773, rs72554028, rs587782928, rs587782929, rs587782930, rs587784067, rs1555226315, rs879253754, rs1114167356, rs773922431, rs1554093487, rs1554093433, rs1554093461, rs1561621507, rs1561619801, rs766692577, rs1581108237, rs1581111034, rs1579663872, rs1583066622, rs1456289029, rs1761430125
Dextrocardia	Dextrocardia	rs1555672928
Hearing loss	Sensorineural Hearing Loss (disorder)	rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359, rs180177151, rs180177154, rs180177153, rs35689081, rs35887622, rs80338944, rs104894396, rs104894398, rs80338947, rs80338948, rs80338942, rs104894402, rs104894403, rs80338945, rs28931594, rs80338940, rs80338941, rs80356590, rs80338950, rs387906706, rs387906707, rs387906708, rs398122848, rs387907016, rs587776894, rs387907088, rs397515411, rs370965183, rs398122930, rs199897298, rs111033187, rs111033448, rs199606180, rs111033284, rs397516413, rs111033305, rs111033220, rs111033256, rs111033297, rs111033253, rs104894408, rs111033295, rs397516874, rs76434661, rs111033335, rs397517323, rs111033247, rs367928692, rs374793617, rs143939430, rs397515605, rs80338939, rs200656442, rs779748859, rs587781261, rs587781262, rs143343083, rs200147906, rs730880338, rs797044491, rs146281367, rs756484720, rs869025593, rs201306709, rs540895576, rs777777359, rs879255246, rs1554358720, rs142498437, rs377145777, rs1057517519, rs779077039, rs952741388, rs1060499797, rs764139009, rs1060499590, rs1064794012, rs1064797115, rs756790858, rs775633137, rs1554952443, rs1554952193, rs782063761, rs1199012623, rs756147087, rs1555648043, rs1555661490, rs1553196233, rs781546107, rs111033190, rs775428246, rs782539587, rs537227442, rs148695069, rs1554835827, rs953422571, rs1554834186, rs1554834161, rs1554835103, rs1554577339, rs1554577402, rs768471577, rs782279338, rs781951909, rs998045226, rs375759781, rs755804651, rs1557458426, rs767797828, rs538027448, rs1559366084, rs367688416, rs1558480402, rs1558490542, rs1559870857, rs1560690591, rs1561299289, rs1562817224, rs1562817529, rs1562822565, rs1562835391, rs1564113368, rs1564554255, rs773851192, rs1564555240, rs761261855, rs1564805114, rs1565522273, rs1565127413, rs781790246, rs1565430886, rs1565469959, rs746667217, rs1565819402, rs1565855932, rs150529554, rs1567939793, rs201866631, rs754472294, rs1559372512, rs1558464965, rs1558488902, rs775062249, rs1226171550, rs1561590396, rs765574676, rs762876554, rs757327146, rs1564949059, rs1565519673, rs368050948, rs1565541888, rs781989117, rs1565402473, rs750358148, rs1386887007, rs1209665716, rs1567641234, rs1237955948, rs1569042782, rs752672077, rs146689036, rs1560070780, rs149712664, rs1564556995, rs762226905, rs773573968, rs1568528171, rs1198256157, rs377267777, rs370564476, rs1577876794, rs747787770, rs759432278, rs1043716893, rs1581138934, rs2033773650, rs1421964916, rs771766431, rs780917129, rs1895773215, rs1895769400, rs761543680, rs1565920060
Hutchinson-gilford syndrome	Hutchinson-Gilford progeria syndrome	rs58596362, rs61064130, rs60310264, rs59886214, rs57629361, rs267607547, rs61444459, rs113436208, rs797044487, rs797044488
Hyperinsulinism	Hyperinsulinism	rs387906407, rs151344623, rs121913156, rs137853245, rs80356655, rs104894010, rs104894012, rs104894014, rs104894015, rs137852676, rs587783169, rs72559716, rs541269678, rs151344624, rs797045209, rs761749884, rs797045624, rs863225280, rs139964066, rs1057516281, rs1057516317, rs576684889, rs201682634, rs1350717554, rs768951263, rs1260178539, rs200670692, rs72559734, rs1400535021, rs372307320, rs1554923999, rs751279984, rs1008906426, rs367850779, rs1382448285, rs1564977373, rs750586210, rs1599937180
Hyperlipidemia	Hyperlipidemia	rs118204057, rs118204060, rs118204062, rs1563569634, rs118204069, rs118204070, rs118204071, rs3737787, rs2073658, rs1566946168, rs1064797075
Hypertension	Hypertensive disease	rs13306026, rs13333226
Hypogonadotropic hypogonadism	Hypogonadotropic hypogonadism	rs104894702, rs104893836, rs104893837, rs104893842, rs121909628, rs138249161, rs1601946139
Hypotrichosis	Hypotrichosis	rs121434306, rs121434307, rs121434308, rs121434309, rs1325804776, rs267606775, rs786200875, rs1568062215, rs267606776, rs1462595806, rs267606777, rs267606659, rs2147483647, rs559648418, rs121917819, rs121917820, rs387906382, rs267606867, rs267606868, rs267606869, rs201868115, rs587776925, rs587777527, rs587777545, rs766783183, rs879255262, rs201249971, rs768448663, rs1566212378, rs1249530918, rs1260995701, rs1569039353, rs1827030121
Insulin-resistant diabetes mellitus	Insulin-resistant diabetes mellitus	rs121913142
Left ventricular hypertrophy	Left Ventricular Hypertrophy	rs397516037
Lethal tight skin contracture syndrome	Lethal tight skin contracture syndrome (disorder)	rs137854889, rs267607181, rs281875361, rs281875367, rs281875360, rs786205123, rs312262686, rs1569668526	19020898, 15843403, 18470519
Lipodystrophy	Lipodystrophy, Familial generalized lipodystrophy	rs553668, rs766817317	12913070
Macrocephaly	Relative macrocephaly	rs786204854, rs764333096, rs1557739557
Mandibuloacral dysplasia with lipodystrophy	MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY	rs137854889, rs121908093, rs121908094, rs121908095, rs56673169, rs121912494, rs281875376, rs483352811, rs312262686, rs281875369	17152860, 12913070, 18435794, 20814950, 15317753
Osteoporosis	Osteoporosis	rs72658152, rs72667023, rs587776916, rs72656370, rs768615287
Patent ductus arteriosus	Patent ductus arteriosus	rs80338911, rs879253870, rs879253871, rs879255278, rs879255279, rs879253872
Transposition of great vessels	Transposition of Great Vessels	rs869312707, rs1555246154, rs1565995034, rs1565995146, rs1029377279, rs1565997261, rs1566010195, rs1566005476, rs1870202051

Show/Hide Unknown Diseases (56)

Unknown
Disease name	Disease term	dbSNP ID	References
Acanthosis nigricans	Acanthosis Nigricans	rs780668
Acquired kyphoscoliosis	Acquired Kyphoscoliosis
Acrosteolysis	Acro-Osteolysis		17152860, 12913070
Adrenal hypoplasia, x-linked	X-linked Adrenal Hypoplasia
Alopecia	Alopecia
Blepharophimosis	Blepharophimosis
Carotid artery stenosis	Carotid Stenosis
Choanal atresia	Choanal Atresia
Clinodactyly	Clinodactyly of fingers
Congenital anomaly of neck	Congenital anomaly of neck
Short clavicles	Congenital hypoplasia of clavicle
Pulmonary hypoplasia	Congenital hypoplasia of lung	rs1569032634
Congenital kyphoscoliosis	Congenital kyphoscoliosis
Congenital microcephaly	Congenital microcephaly
Defect of skull ossification	Defect of skull ossification
Double ureter	Double ureter
Dwarfism	Dwarfism
Entropion	Entropion
Fatty liver	Fatty Liver, Steatohepatitis
Glomerular hyalinosis	Hyalinosis, Segmental Glomerular		17152860
Glomerulosclerosis	Focal glomerulosclerosis		17152860
High palate	Byzanthine arch palate
Hydropic placenta	Hydrops of placenta
Hyperglycemia	Hyperglycemia
Hyperopia	Hyperopia
Hyperphosphatemia	Hyperphosphatemia (disorder)
Hypodontia	Hypodontia
Hypohidrosis	Hypohidrosis
Hypoplasia of nipple	Hypoplasia of nipple
Hypoplasia of teeth	Hypoplasia of teeth
Hypospadias	Hypospadias
Keratoconjunctivitis sicca	Keratoconjunctivitis Sicca
Lipoatrophy	Lipoatrophy
Macrotia	Macrotia
Mandibular diseases	Mandibular Diseases		12913070
Maternal hypertension	Maternal hypertension
Microcolon	Microcolon
Micrognathism	Micrognathism
Microstomia	Microstomia
Microtia	Congenital small ears
Nail diseases	NAIL DISORDER, NONSYNDROMIC CONGENITAL, 9
Nail dysplasia	Nail dysplasia
Nail dystrophy	Dystrophia unguium
Neck webbing	Neck webbing
Hypoglycemia	Neonatal hypoglycemia
Osteopenia	Osteopenia
Progeria	Progeria		16671095, 23217256
Proptosis	Exophthalmos
Restrictive dermopathy	Restrictive dermopathy
Sinus tachycardia	Sinus Tachycardia
Skin erosion	Skin Erosion
Submucosal cleft palate	Submucous cleft of hard palate
Temporomandibular ankylosis	Temporomandibular ankylosis
Thrombocytosis	Thrombocytosis
Transient ischemic attack	Transient Ischemic Attack
Vertical talus	Vertical Talus

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