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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	81502
Gene name	Histocompatibility minor 13
Gene symbol	HM13
Synonyms (NCBI Gene)	H13IMP1IMPASIMPAS-1MSTP086PSENL3PSL3SPPSPPL1
Chromosome	20
Chromosome location	20q11.21
Summary	The protein encoded by this gene, which localizes to the endoplasmic reticulum, catalyzes intramembrane proteolysis of some signal peptides after they have been cleaved from a preprotein. This activity is required to generate signal sequence-derived human

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miRTarBase ID	miRNA	Experiments	Reference
MIRT051212	hsa-miR-16-5p	CLASH	23622248
MIRT041269	hsa-miR-193b-3p	CLASH	23622248
MIRT037716	hsa-miR-744-5p	CLASH	23622248
MIRT657404	hsa-miR-3159	HITS-CLIP	19536157
MIRT657403	hsa-miR-6872-3p	HITS-CLIP	19536157
MIRT657402	hsa-miR-149-5p	HITS-CLIP	19536157
MIRT657401	hsa-miR-1254	HITS-CLIP	19536157
MIRT657400	hsa-miR-3116	HITS-CLIP	19536157
MIRT657399	hsa-miR-661	HITS-CLIP	19536157
MIRT657398	hsa-miR-1290	HITS-CLIP	19536157
MIRT657397	hsa-miR-6822-3p	HITS-CLIP	19536157
MIRT657396	hsa-miR-760	HITS-CLIP	19536157
MIRT657395	hsa-miR-6807-5p	HITS-CLIP	19536157
MIRT628134	hsa-miR-8057	HITS-CLIP	19536157
MIRT657394	hsa-miR-651-5p	HITS-CLIP	19536157
MIRT663642	hsa-miR-15a-3p	HITS-CLIP	23824327
MIRT663641	hsa-miR-1972	HITS-CLIP	23824327
MIRT663640	hsa-miR-4650-5p	HITS-CLIP	23824327
MIRT663639	hsa-miR-4740-3p	HITS-CLIP	23824327
MIRT663638	hsa-miR-1247-3p	HITS-CLIP	23824327
MIRT663637	hsa-miR-4532	HITS-CLIP	23824327
MIRT663636	hsa-miR-4722-3p	HITS-CLIP	23824327
MIRT663634	hsa-miR-6727-3p	HITS-CLIP	23824327
MIRT663635	hsa-miR-6747-3p	HITS-CLIP	23824327
MIRT663633	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT663632	hsa-miR-1976	HITS-CLIP	23824327
MIRT663631	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT663630	hsa-miR-4279	HITS-CLIP	23824327
MIRT628146	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT628145	hsa-miR-4485-5p	HITS-CLIP	23824327
MIRT628144	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT628143	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT628142	hsa-miR-635	HITS-CLIP	23824327
MIRT628141	hsa-miR-6774-5p	HITS-CLIP	23824327
MIRT628140	hsa-miR-2682-3p	HITS-CLIP	23824327
MIRT628139	hsa-miR-6781-3p	HITS-CLIP	23824327
MIRT628136	hsa-miR-23a-5p	HITS-CLIP	23824327
MIRT628135	hsa-miR-23b-5p	HITS-CLIP	23824327
MIRT628133	hsa-miR-3940-5p	HITS-CLIP	23824327
MIRT628132	hsa-miR-4507	HITS-CLIP	23824327
MIRT628131	hsa-miR-6839-3p	HITS-CLIP	23824327
MIRT657404	hsa-miR-3159	HITS-CLIP	23824327
MIRT657403	hsa-miR-6872-3p	HITS-CLIP	23824327
MIRT657402	hsa-miR-149-5p	HITS-CLIP	23824327
MIRT657401	hsa-miR-1254	HITS-CLIP	23824327
MIRT657400	hsa-miR-3116	HITS-CLIP	23824327
MIRT657399	hsa-miR-661	HITS-CLIP	23824327
MIRT657398	hsa-miR-1290	HITS-CLIP	23824327
MIRT657397	hsa-miR-6822-3p	HITS-CLIP	23824327
MIRT657396	hsa-miR-760	HITS-CLIP	23824327
MIRT657395	hsa-miR-6807-5p	HITS-CLIP	23824327
MIRT657394	hsa-miR-651-5p	HITS-CLIP	23824327
MIRT657393	hsa-miR-2392	HITS-CLIP	23824327
MIRT657392	hsa-miR-660-3p	HITS-CLIP	23824327
MIRT657391	hsa-miR-1913	HITS-CLIP	23824327
MIRT657390	hsa-miR-324-3p	HITS-CLIP	23824327
MIRT657389	hsa-miR-18a-3p	HITS-CLIP	23824327
MIRT657388	hsa-miR-6790-3p	HITS-CLIP	23824327
MIRT657387	hsa-miR-6821-3p	HITS-CLIP	23824327
MIRT657386	hsa-miR-1193	HITS-CLIP	23824327
MIRT657385	hsa-miR-378a-5p	HITS-CLIP	23824327
MIRT657384	hsa-miR-6843-3p	HITS-CLIP	23824327
MIRT657383	hsa-miR-6848-3p	HITS-CLIP	23824327
MIRT628146	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT628145	hsa-miR-4485-5p	HITS-CLIP	23824327
MIRT628144	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT628143	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT628142	hsa-miR-635	HITS-CLIP	23824327
MIRT628141	hsa-miR-6774-5p	HITS-CLIP	23824327
MIRT628140	hsa-miR-2682-3p	HITS-CLIP	23824327
MIRT628139	hsa-miR-6781-3p	HITS-CLIP	23824327
MIRT628138	hsa-miR-4284	HITS-CLIP	23824327
MIRT628137	hsa-miR-24-3p	HITS-CLIP	23824327
MIRT628136	hsa-miR-23a-5p	HITS-CLIP	23824327
MIRT628135	hsa-miR-23b-5p	HITS-CLIP	23824327
MIRT628134	hsa-miR-8057	HITS-CLIP	23824327
MIRT628133	hsa-miR-3940-5p	HITS-CLIP	23824327
MIRT628132	hsa-miR-4507	HITS-CLIP	23824327
MIRT628131	hsa-miR-6839-3p	HITS-CLIP	23824327
MIRT571146	hsa-miR-4746-3p	PAR-CLIP	20371350
MIRT571144	hsa-miR-3135b	PAR-CLIP	20371350
MIRT571145	hsa-miR-504-3p	PAR-CLIP	20371350
MIRT571143	hsa-miR-122-5p	PAR-CLIP	20371350
MIRT571142	hsa-miR-3652	PAR-CLIP	20371350
MIRT571141	hsa-miR-4430	PAR-CLIP	20371350
MIRT657404	hsa-miR-3159	HITS-CLIP	19536157
MIRT657403	hsa-miR-6872-3p	HITS-CLIP	19536157
MIRT657402	hsa-miR-149-5p	HITS-CLIP	19536157
MIRT657401	hsa-miR-1254	HITS-CLIP	19536157
MIRT657400	hsa-miR-3116	HITS-CLIP	19536157
MIRT657399	hsa-miR-661	HITS-CLIP	19536157
MIRT657398	hsa-miR-1290	HITS-CLIP	19536157
MIRT657397	hsa-miR-6822-3p	HITS-CLIP	19536157
MIRT657396	hsa-miR-760	HITS-CLIP	19536157
MIRT657395	hsa-miR-6807-5p	HITS-CLIP	19536157
MIRT628134	hsa-miR-8057	HITS-CLIP	19536157
MIRT657394	hsa-miR-651-5p	HITS-CLIP	19536157
MIRT663642	hsa-miR-15a-3p	HITS-CLIP	23824327
MIRT663641	hsa-miR-1972	HITS-CLIP	23824327
MIRT663640	hsa-miR-4650-5p	HITS-CLIP	23824327
MIRT663639	hsa-miR-4740-3p	HITS-CLIP	23824327
MIRT663638	hsa-miR-1247-3p	HITS-CLIP	23824327
MIRT663637	hsa-miR-4532	HITS-CLIP	23824327
MIRT663636	hsa-miR-4722-3p	HITS-CLIP	23824327
MIRT663634	hsa-miR-6727-3p	HITS-CLIP	23824327
MIRT663635	hsa-miR-6747-3p	HITS-CLIP	23824327
MIRT663633	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT663632	hsa-miR-1976	HITS-CLIP	23824327
MIRT663631	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT663630	hsa-miR-4279	HITS-CLIP	23824327
MIRT628146	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT628145	hsa-miR-4485-5p	HITS-CLIP	23824327
MIRT628144	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT628143	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT628142	hsa-miR-635	HITS-CLIP	23824327
MIRT628141	hsa-miR-6774-5p	HITS-CLIP	23824327
MIRT628140	hsa-miR-2682-3p	HITS-CLIP	23824327
MIRT628139	hsa-miR-6781-3p	HITS-CLIP	23824327
MIRT628136	hsa-miR-23a-5p	HITS-CLIP	23824327
MIRT628135	hsa-miR-23b-5p	HITS-CLIP	23824327
MIRT628133	hsa-miR-3940-5p	HITS-CLIP	23824327
MIRT628132	hsa-miR-4507	HITS-CLIP	23824327
MIRT628131	hsa-miR-6839-3p	HITS-CLIP	23824327
MIRT657404	hsa-miR-3159	HITS-CLIP	23824327
MIRT657403	hsa-miR-6872-3p	HITS-CLIP	23824327
MIRT657402	hsa-miR-149-5p	HITS-CLIP	23824327
MIRT657401	hsa-miR-1254	HITS-CLIP	23824327
MIRT657400	hsa-miR-3116	HITS-CLIP	23824327
MIRT657399	hsa-miR-661	HITS-CLIP	23824327
MIRT657398	hsa-miR-1290	HITS-CLIP	23824327
MIRT657397	hsa-miR-6822-3p	HITS-CLIP	23824327
MIRT657396	hsa-miR-760	HITS-CLIP	23824327
MIRT657395	hsa-miR-6807-5p	HITS-CLIP	23824327
MIRT657394	hsa-miR-651-5p	HITS-CLIP	23824327
MIRT657393	hsa-miR-2392	HITS-CLIP	23824327
MIRT657392	hsa-miR-660-3p	HITS-CLIP	23824327
MIRT657391	hsa-miR-1913	HITS-CLIP	23824327
MIRT657390	hsa-miR-324-3p	HITS-CLIP	23824327
MIRT657389	hsa-miR-18a-3p	HITS-CLIP	23824327
MIRT657388	hsa-miR-6790-3p	HITS-CLIP	23824327
MIRT657387	hsa-miR-6821-3p	HITS-CLIP	23824327
MIRT657386	hsa-miR-1193	HITS-CLIP	23824327
MIRT657385	hsa-miR-378a-5p	HITS-CLIP	23824327
MIRT657384	hsa-miR-6843-3p	HITS-CLIP	23824327
MIRT657383	hsa-miR-6848-3p	HITS-CLIP	23824327
MIRT628146	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT628145	hsa-miR-4485-5p	HITS-CLIP	23824327
MIRT628144	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT628143	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT628142	hsa-miR-635	HITS-CLIP	23824327
MIRT628141	hsa-miR-6774-5p	HITS-CLIP	23824327
MIRT628140	hsa-miR-2682-3p	HITS-CLIP	23824327
MIRT628139	hsa-miR-6781-3p	HITS-CLIP	23824327
MIRT628138	hsa-miR-4284	HITS-CLIP	23824327
MIRT628137	hsa-miR-24-3p	HITS-CLIP	23824327
MIRT628136	hsa-miR-23a-5p	HITS-CLIP	23824327
MIRT628135	hsa-miR-23b-5p	HITS-CLIP	23824327
MIRT628134	hsa-miR-8057	HITS-CLIP	23824327
MIRT628133	hsa-miR-3940-5p	HITS-CLIP	23824327
MIRT628132	hsa-miR-4507	HITS-CLIP	23824327
MIRT628131	hsa-miR-6839-3p	HITS-CLIP	23824327
MIRT571146	hsa-miR-4746-3p	PAR-CLIP	20371350
MIRT571144	hsa-miR-3135b	PAR-CLIP	20371350
MIRT571145	hsa-miR-504-3p	PAR-CLIP	20371350
MIRT571143	hsa-miR-122-5p	PAR-CLIP	20371350
MIRT571142	hsa-miR-3652	PAR-CLIP	20371350
MIRT571141	hsa-miR-4430	PAR-CLIP	20371350
MIRT1048738	hsa-miR-1228	CLIP-seq
MIRT1048739	hsa-miR-1231	CLIP-seq
MIRT1048740	hsa-miR-125a-5p	CLIP-seq
MIRT1048741	hsa-miR-125b	CLIP-seq
MIRT1048742	hsa-miR-1291	CLIP-seq
MIRT1048743	hsa-miR-3120-5p	CLIP-seq
MIRT1048744	hsa-miR-3176	CLIP-seq
MIRT1048745	hsa-miR-328	CLIP-seq
MIRT1048746	hsa-miR-3663-5p	CLIP-seq
MIRT1048747	hsa-miR-3922-3p	CLIP-seq
MIRT1048748	hsa-miR-4319	CLIP-seq
MIRT1048749	hsa-miR-4324	CLIP-seq
MIRT1048750	hsa-miR-4527	CLIP-seq
MIRT1048751	hsa-miR-548c-3p	CLIP-seq
MIRT1048752	hsa-miR-1226	CLIP-seq
MIRT1048753	hsa-miR-1279	CLIP-seq
MIRT1048754	hsa-miR-197	CLIP-seq
MIRT1048755	hsa-miR-3119	CLIP-seq
MIRT1048756	hsa-miR-3122	CLIP-seq
MIRT1048757	hsa-miR-3140-3p	CLIP-seq
MIRT1048758	hsa-miR-3149	CLIP-seq
MIRT1048759	hsa-miR-3187-3p	CLIP-seq
MIRT1048760	hsa-miR-3605-5p	CLIP-seq
MIRT1048761	hsa-miR-3689a-3p	CLIP-seq
MIRT1048762	hsa-miR-3689c	CLIP-seq
MIRT1048763	hsa-miR-3913-5p	CLIP-seq
MIRT1048764	hsa-miR-411	CLIP-seq
MIRT1048765	hsa-miR-4274	CLIP-seq
MIRT1048766	hsa-miR-4300	CLIP-seq
MIRT1048767	hsa-miR-4424	CLIP-seq
MIRT1048768	hsa-miR-4435	CLIP-seq
MIRT1048769	hsa-miR-4468	CLIP-seq
MIRT1048770	hsa-miR-4519	CLIP-seq
MIRT1048771	hsa-miR-4701-5p	CLIP-seq
MIRT1048772	hsa-miR-4716-5p	CLIP-seq
MIRT1048773	hsa-miR-4724-5p	CLIP-seq
MIRT1048774	hsa-miR-4733-3p	CLIP-seq
MIRT1048775	hsa-miR-4747-5p	CLIP-seq
MIRT1048776	hsa-miR-4781-3p	CLIP-seq
MIRT1048777	hsa-miR-483-5p	CLIP-seq
MIRT1048778	hsa-miR-5096	CLIP-seq
MIRT1048779	hsa-miR-548s	CLIP-seq
MIRT1048780	hsa-miR-588	CLIP-seq
MIRT1048781	hsa-miR-920	CLIP-seq
MIRT2011105	hsa-miR-1910	CLIP-seq
MIRT2011106	hsa-miR-455-3p	CLIP-seq
MIRT2451252	hsa-miR-1	CLIP-seq
MIRT2451253	hsa-miR-1273f	CLIP-seq
MIRT2451254	hsa-miR-1289	CLIP-seq
MIRT2451255	hsa-miR-129-5p	CLIP-seq
MIRT2451256	hsa-miR-206	CLIP-seq
MIRT2451257	hsa-miR-2467-5p	CLIP-seq
MIRT2451258	hsa-miR-3130-3p	CLIP-seq
MIRT1048758	hsa-miR-3149	CLIP-seq
MIRT2451259	hsa-miR-3188	CLIP-seq
MIRT2451260	hsa-miR-3198	CLIP-seq
MIRT2451261	hsa-miR-3664-5p	CLIP-seq
MIRT2451262	hsa-miR-3673	CLIP-seq
MIRT2451263	hsa-miR-3975	CLIP-seq
MIRT1048764	hsa-miR-411	CLIP-seq
MIRT2451264	hsa-miR-4293	CLIP-seq
MIRT2451265	hsa-miR-4294	CLIP-seq
MIRT2451266	hsa-miR-4309	CLIP-seq
MIRT2451267	hsa-miR-4534	CLIP-seq
MIRT2451268	hsa-miR-4639-3p	CLIP-seq
MIRT2451269	hsa-miR-4649-3p	CLIP-seq
MIRT2451270	hsa-miR-4735-5p	CLIP-seq
MIRT2451271	hsa-miR-4755-3p	CLIP-seq
MIRT2451272	hsa-miR-4775	CLIP-seq
MIRT1048777	hsa-miR-483-5p	CLIP-seq
MIRT2451273	hsa-miR-485-5p	CLIP-seq
MIRT2451274	hsa-miR-544b	CLIP-seq
MIRT2451275	hsa-miR-590-3p	CLIP-seq
MIRT2451276	hsa-miR-613	CLIP-seq
MIRT2451255	hsa-miR-129-5p	CLIP-seq
MIRT1048758	hsa-miR-3149	CLIP-seq
MIRT1048764	hsa-miR-411	CLIP-seq
MIRT2451270	hsa-miR-4735-5p	CLIP-seq
MIRT2451272	hsa-miR-4775	CLIP-seq
MIRT1048777	hsa-miR-483-5p	CLIP-seq
MIRT2451275	hsa-miR-590-3p	CLIP-seq
MIRT2451252	hsa-miR-1	CLIP-seq
MIRT1048752	hsa-miR-1226	CLIP-seq
MIRT2451255	hsa-miR-129-5p	CLIP-seq
MIRT2546555	hsa-miR-1307	CLIP-seq
MIRT1048754	hsa-miR-197	CLIP-seq
MIRT2451256	hsa-miR-206	CLIP-seq
MIRT1048758	hsa-miR-3149	CLIP-seq
MIRT2546556	hsa-miR-3199	CLIP-seq
MIRT2451262	hsa-miR-3673	CLIP-seq
MIRT2546557	hsa-miR-3692	CLIP-seq
MIRT1048764	hsa-miR-411	CLIP-seq
MIRT2546558	hsa-miR-4318	CLIP-seq
MIRT2546559	hsa-miR-4438	CLIP-seq
MIRT2546560	hsa-miR-4638-5p	CLIP-seq
MIRT2546561	hsa-miR-4693-5p	CLIP-seq
MIRT2546562	hsa-miR-4731-5p	CLIP-seq
MIRT1048774	hsa-miR-4733-3p	CLIP-seq
MIRT2451270	hsa-miR-4735-5p	CLIP-seq
MIRT2451271	hsa-miR-4755-3p	CLIP-seq
MIRT2451272	hsa-miR-4775	CLIP-seq
MIRT1048777	hsa-miR-483-5p	CLIP-seq
MIRT2546563	hsa-miR-501-3p	CLIP-seq
MIRT2546564	hsa-miR-502-3p	CLIP-seq
MIRT2546565	hsa-miR-5095	CLIP-seq
MIRT1048778	hsa-miR-5096	CLIP-seq
MIRT2451275	hsa-miR-590-3p	CLIP-seq
MIRT2451276	hsa-miR-613	CLIP-seq
MIRT2546566	hsa-miR-767-5p	CLIP-seq
MIRT2546567	hsa-miR-892a	CLIP-seq
MIRT2682335	hsa-miR-1285	CLIP-seq
MIRT2682336	hsa-miR-1914	CLIP-seq
MIRT2682337	hsa-miR-22	CLIP-seq
MIRT2682338	hsa-miR-3187-5p	CLIP-seq
MIRT2682339	hsa-miR-3665	CLIP-seq
MIRT2682340	hsa-miR-3690	CLIP-seq
MIRT2682341	hsa-miR-4254	CLIP-seq
MIRT2682342	hsa-miR-4633-3p	CLIP-seq
MIRT2682343	hsa-miR-4757-5p	CLIP-seq
MIRT2682344	hsa-miR-541	CLIP-seq
MIRT2682345	hsa-miR-558	CLIP-seq
MIRT2682346	hsa-miR-612	CLIP-seq
MIRT2682347	hsa-miR-654-5p	CLIP-seq
MIRT2682348	hsa-miR-938	CLIP-seq

Show/Hide all (39)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001701	Process	In utero embryonic development	IEA
GO:0005515	Function	Protein binding	IPI	19720873, 19942855, 25239945, 25416956
GO:0005783	Component	Endoplasmic reticulum	IDA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005783	Component	Endoplasmic reticulum	ISS
GO:0005789	Component	Endoplasmic reticulum membrane	IC	25239945
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0005791	Component	Rough endoplasmic reticulum	IDA	15998642, 16829952
GO:0005886	Component	Plasma membrane	IEA
GO:0006465	Process	Signal peptide processing	IBA
GO:0006508	Process	Proteolysis	IEA
GO:0006509	Process	Membrane protein ectodomain proteolysis	IMP	17965014
GO:0008233	Function	Peptidase activity	IDA	14741365
GO:0008233	Function	Peptidase activity	IEA
GO:0009986	Component	Cell surface	ISS
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0031293	Process	Membrane protein intracellular domain proteolysis	IMP	16829952
GO:0031625	Function	Ubiquitin protein ligase binding	IPI	25239945
GO:0033619	Process	Membrane protein proteolysis	IBA
GO:0033619	Process	Membrane protein proteolysis	IDA	14741365
GO:0034599	Process	Cellular response to oxidative stress	TAS
GO:0036513	Component	Derlin-1 retrotranslocation complex	IDA	25239945
GO:0042500	Function	Aspartic endopeptidase activity, intramembrane cleaving	IBA
GO:0042500	Function	Aspartic endopeptidase activity, intramembrane cleaving	IDA	25239945
GO:0042500	Function	Aspartic endopeptidase activity, intramembrane cleaving	IEA
GO:0042500	Function	Aspartic endopeptidase activity, intramembrane cleaving	IMP	16873890
GO:0042500	Function	Aspartic endopeptidase activity, intramembrane cleaving	TAS
GO:0042803	Function	Protein homodimerization activity	IDA	15385547, 15998642, 16873890
GO:0042803	Function	Protein homodimerization activity	IEA
GO:0098553	Component	Lumenal side of endoplasmic reticulum membrane	IBA
GO:0098553	Component	Lumenal side of endoplasmic reticulum membrane	IDA	15385547
GO:0098553	Component	Lumenal side of endoplasmic reticulum membrane	IEA
GO:0098554	Component	Cytoplasmic side of endoplasmic reticulum membrane	IBA
GO:0098554	Component	Cytoplasmic side of endoplasmic reticulum membrane	IDA	15385547
GO:0098554	Component	Cytoplasmic side of endoplasmic reticulum membrane	IEA
GO:1904211	Process	Membrane protein proteolysis involved in retrograde protein transport, ER to cytosol	IMP	25239945

MIM	HGNC	e!Ensembl
607106	16435	ENSG00000101294

Q8TCT9

Protein name

Signal peptide peptidase (EC 3.4.23.-) (Intramembrane protease 1) (IMP-1) (IMPAS-1) (hIMP1) (Minor histocompatibility antigen H13) (Presenilin-like protein 3) (Signal peptide peptidase-like 1)

Protein function

Catalyzes intramembrane proteolysis of signal peptides that have been removed from precursors of secretory and membrane proteins, resulting in the release of the fragment from the ER membrane into the cytoplasm (PubMed:12077416). Required to gen

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF04258	Peptidase_A22B	62 → 350	Signal peptide peptidase	Family

Tissue specificity

TISSUE SPECIFICITY: Widely expressed with highest levels in kidney, liver, placenta, lung, leukocytes and small intestine and reduced expression in heart and skeletal muscle. Expressed abundantly in the CNS with highest levels in thalamus and medulla. {EC

Sequence

MDSALSDPHNGSAEAGGPTNSTTRPPSTPEGIALAYGSLLLMALLPIFFGALRSVRCARG
KNASDMPETITSRDAARFPIIASCTLLGLYLFFKIFSQEYINLLLSMYFFVLGILALSHT
ISPFMNKFFPASFPNRQYQLLFTQGSGENKEEIINYEFDTKDLVCLGLSSIVGVWYLLRK
HWIANNLFGLAFSLNGVELLHLNNVSTGCILLGGLFIYDVFWVFGTNVMVTVAKSFEAPI
KLVFPQDLLEKGLEANNFAMLGLGDVVIPGIFIALLLRFDISLKKNTHTYFYTSFAAYIF
GLGLTIFIMHIFKHAQPALLYLVPACIGFPVLVALAKGEVTEMFSYEESNPKDPAAVTES
KEGTEASASKGLEKKEK

Sequence length

377

Interactions

View interactions

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (1)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
INSOMNIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (43)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Adrenocortical Carcinoma	Adrenocortical carcinoma	Pubtator	12547710	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	15385547	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	28624439		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	25193695, 29669595, 30297886, 30348988		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	36262249, 39199324	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	35964022	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	36262249	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	39566392	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	17255263, 28846937		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	31862408	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	39199324	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma, Basal Cell	Carcinoma	BEFREE	10964331		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	21618519, 24872956		★★★★★ ★☆☆☆☆ Found in Text Mining only
Choriocarcinoma	Choriocarcinoma	BEFREE	23911878		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	21252116		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	30407516		★★★★★ ★☆☆☆☆ Found in Text Mining only
Conjunctivitis	Conjunctivitis	BEFREE	28408304		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cystitis	Cystitis	BEFREE	28408304		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dejerine-Sottas Disease (disorder)	Charcot-Marie-Tooth disease	BEFREE	26194191		★★★★★ ★☆☆☆☆ Found in Text Mining only
Disorder of eye	Disorder Of Eye	BEFREE	31511378		★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	36525280	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epithelioma	Epithelioma	BEFREE	26194191		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	BEFREE	27142248		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	28198167		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	28198167		★★★★★ ★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington disease	Pubtator	36262249	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	31862408	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	34906185	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma, T-Cell, Cutaneous	Lymphoma	BEFREE	11807795		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	29669595, 30297886, 30348988		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	17255263, 28846937		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	17546046, 21618519, 24872956		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	28962925		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	15769738, 17255263, 22797548, 24931165, 26194191, 28846937, 30864660, 31849319		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	21252116		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	29771420		★★★★★ ★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	28846937, 30543563		★★★★★ ★☆☆☆☆ Found in Text Mining only
Monoclonal B-Cell Lymphocytosis	B-Cell Lymphocytosis	BEFREE	26206691		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	15769738, 17255263, 26194191		★★★★★ ★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	21618519, 24872956		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sezary Syndrome	Sezary Syndrome	BEFREE	11807795		★★★★★ ★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	27142248		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	28962925		★★★★★ ★☆☆☆☆ Found in Text Mining only

HM13 (histocompatibility minor 13)