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	9159
Gene name	Proprotein convertase subtilisin/kexin type 7
Gene symbol	PCSK7
Synonyms (NCBI Gene)	LPCPC7PC8SPC7
Chromosome	11
Chromosome location	11q23.3
Summary	This gene encodes a member of the subtilisin-like proprotein convertase family, which includes proteases that process protein and peptide precursors trafficking through regulated or constitutive branches of the secretory pathway. It encodes a type 1 membr

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Show/Hide all (127)

miRTarBase ID	miRNA	Experiments	Reference
MIRT039521	hsa-miR-652-3p	CLASH	23622248
MIRT615831	hsa-miR-548c-3p	HITS-CLIP	23824327
MIRT615830	hsa-miR-551b-5p	HITS-CLIP	23824327
MIRT615829	hsa-miR-3664-3p	HITS-CLIP	23824327
MIRT615828	hsa-miR-1266-5p	HITS-CLIP	23824327
MIRT615827	hsa-miR-4518	HITS-CLIP	23824327
MIRT615826	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT615831	hsa-miR-548c-3p	HITS-CLIP	23824327
MIRT615830	hsa-miR-551b-5p	HITS-CLIP	23824327
MIRT615829	hsa-miR-3664-3p	HITS-CLIP	23824327
MIRT615828	hsa-miR-1266-5p	HITS-CLIP	23824327
MIRT615827	hsa-miR-4518	HITS-CLIP	23824327
MIRT615826	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT615831	hsa-miR-548c-3p	HITS-CLIP	23824327
MIRT615830	hsa-miR-551b-5p	HITS-CLIP	23824327
MIRT615829	hsa-miR-3664-3p	HITS-CLIP	23824327
MIRT615828	hsa-miR-1266-5p	HITS-CLIP	23824327
MIRT615827	hsa-miR-4518	HITS-CLIP	23824327
MIRT615826	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT615831	hsa-miR-548c-3p	HITS-CLIP	23824327
MIRT615830	hsa-miR-551b-5p	HITS-CLIP	23824327
MIRT626342	hsa-miR-1972	HITS-CLIP	23824327
MIRT626341	hsa-miR-4650-5p	HITS-CLIP	23824327
MIRT615829	hsa-miR-3664-3p	HITS-CLIP	23824327
MIRT615828	hsa-miR-1266-5p	HITS-CLIP	23824327
MIRT615827	hsa-miR-4518	HITS-CLIP	23824327
MIRT615826	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT615831	hsa-miR-548c-3p	HITS-CLIP	23824327
MIRT615830	hsa-miR-551b-5p	HITS-CLIP	23824327
MIRT615829	hsa-miR-3664-3p	HITS-CLIP	23824327
MIRT615828	hsa-miR-1266-5p	HITS-CLIP	23824327
MIRT615827	hsa-miR-4518	HITS-CLIP	23824327
MIRT615826	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT615831	hsa-miR-548c-3p	HITS-CLIP	23824327
MIRT615830	hsa-miR-551b-5p	HITS-CLIP	23824327
MIRT615829	hsa-miR-3664-3p	HITS-CLIP	23824327
MIRT615828	hsa-miR-1266-5p	HITS-CLIP	23824327
MIRT615827	hsa-miR-4518	HITS-CLIP	23824327
MIRT615826	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT615831	hsa-miR-548c-3p	HITS-CLIP	23824327
MIRT615830	hsa-miR-551b-5p	HITS-CLIP	23824327
MIRT615829	hsa-miR-3664-3p	HITS-CLIP	23824327
MIRT615828	hsa-miR-1266-5p	HITS-CLIP	23824327
MIRT615827	hsa-miR-4518	HITS-CLIP	23824327
MIRT615826	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT615831	hsa-miR-548c-3p	HITS-CLIP	23824327
MIRT615830	hsa-miR-551b-5p	HITS-CLIP	23824327
MIRT615829	hsa-miR-3664-3p	HITS-CLIP	23824327
MIRT615828	hsa-miR-1266-5p	HITS-CLIP	23824327
MIRT615827	hsa-miR-4518	HITS-CLIP	23824327
MIRT615826	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT615831	hsa-miR-548c-3p	HITS-CLIP	23824327
MIRT615830	hsa-miR-551b-5p	HITS-CLIP	23824327
MIRT615829	hsa-miR-3664-3p	HITS-CLIP	23824327
MIRT615828	hsa-miR-1266-5p	HITS-CLIP	23824327
MIRT615827	hsa-miR-4518	HITS-CLIP	23824327
MIRT615826	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT615831	hsa-miR-548c-3p	HITS-CLIP	23824327
MIRT615830	hsa-miR-551b-5p	HITS-CLIP	23824327
MIRT626342	hsa-miR-1972	HITS-CLIP	23824327
MIRT626341	hsa-miR-4650-5p	HITS-CLIP	23824327
MIRT615829	hsa-miR-3664-3p	HITS-CLIP	23824327
MIRT615828	hsa-miR-1266-5p	HITS-CLIP	23824327
MIRT615827	hsa-miR-4518	HITS-CLIP	23824327
MIRT615826	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT615831	hsa-miR-548c-3p	HITS-CLIP	23824327
MIRT615830	hsa-miR-551b-5p	HITS-CLIP	23824327
MIRT615829	hsa-miR-3664-3p	HITS-CLIP	23824327
MIRT615828	hsa-miR-1266-5p	HITS-CLIP	23824327
MIRT615827	hsa-miR-4518	HITS-CLIP	23824327
MIRT615826	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT615831	hsa-miR-548c-3p	HITS-CLIP	23824327
MIRT615830	hsa-miR-551b-5p	HITS-CLIP	23824327
MIRT615829	hsa-miR-3664-3p	HITS-CLIP	23824327
MIRT615828	hsa-miR-1266-5p	HITS-CLIP	23824327
MIRT615827	hsa-miR-4518	HITS-CLIP	23824327
MIRT615826	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT1218563	hsa-miR-1236	CLIP-seq
MIRT1218564	hsa-miR-125a-5p	CLIP-seq
MIRT1218565	hsa-miR-125b	CLIP-seq
MIRT1218566	hsa-miR-2467-3p	CLIP-seq
MIRT1218567	hsa-miR-3125	CLIP-seq
MIRT1218568	hsa-miR-3663-3p	CLIP-seq
MIRT1218569	hsa-miR-3678-3p	CLIP-seq
MIRT1218570	hsa-miR-3909	CLIP-seq
MIRT1218571	hsa-miR-3916	CLIP-seq
MIRT1218572	hsa-miR-4272	CLIP-seq
MIRT1218573	hsa-miR-4319	CLIP-seq
MIRT1218574	hsa-miR-4661-5p	CLIP-seq
MIRT1218575	hsa-miR-4732-3p	CLIP-seq
MIRT1218576	hsa-miR-670	CLIP-seq
MIRT1218577	hsa-miR-7	CLIP-seq
MIRT2063235	hsa-miR-122	CLIP-seq
MIRT2063236	hsa-miR-4269	CLIP-seq
MIRT2063235	hsa-miR-122	CLIP-seq
MIRT1218564	hsa-miR-125a-5p	CLIP-seq
MIRT1218565	hsa-miR-125b	CLIP-seq
MIRT2291623	hsa-miR-34a	CLIP-seq
MIRT2291624	hsa-miR-34c-5p	CLIP-seq
MIRT1218568	hsa-miR-3663-3p	CLIP-seq
MIRT1218573	hsa-miR-4319	CLIP-seq
MIRT2291625	hsa-miR-4446-5p	CLIP-seq
MIRT2291626	hsa-miR-4493	CLIP-seq
MIRT2291627	hsa-miR-449a	CLIP-seq
MIRT2291628	hsa-miR-449b	CLIP-seq
MIRT1218575	hsa-miR-4732-3p	CLIP-seq
MIRT2291629	hsa-miR-4747-5p	CLIP-seq
MIRT2291630	hsa-miR-4753-5p	CLIP-seq
MIRT2291631	hsa-miR-4755-5p	CLIP-seq
MIRT1218576	hsa-miR-670	CLIP-seq
MIRT1218577	hsa-miR-7	CLIP-seq
MIRT2392226	hsa-miR-1289	CLIP-seq
MIRT2392227	hsa-miR-3198	CLIP-seq
MIRT2392228	hsa-miR-4257	CLIP-seq
MIRT2392229	hsa-miR-4294	CLIP-seq
MIRT2392230	hsa-miR-4309	CLIP-seq
MIRT2392231	hsa-miR-4481	CLIP-seq
MIRT2392232	hsa-miR-4658	CLIP-seq
MIRT2392233	hsa-miR-4745-5p	CLIP-seq
MIRT2392234	hsa-miR-4758-5p	CLIP-seq
MIRT2465812	hsa-miR-2392	CLIP-seq
MIRT2465813	hsa-miR-3612	CLIP-seq
MIRT2465814	hsa-miR-3926	CLIP-seq
MIRT2465815	hsa-miR-4443	CLIP-seq
MIRT2465816	hsa-miR-4534	CLIP-seq
MIRT2465817	hsa-miR-4802-5p	CLIP-seq
MIRT2465818	hsa-miR-650	CLIP-seq

Show/Hide all (18)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	IBA
GO:0000139	Component	Golgi membrane	IDA	9341152
GO:0004252	Function	Serine-type endopeptidase activity	IBA
GO:0004252	Function	Serine-type endopeptidase activity	IEA
GO:0005515	Function	Protein binding	IPI	32814053
GO:0005737	Component	Cytoplasm	IEA
GO:0005794	Component	Golgi apparatus	IEA
GO:0005802	Component	Trans-Golgi network	IBA
GO:0006508	Process	Proteolysis	IEA
GO:0008233	Function	Peptidase activity	IDA	15606899
GO:0008233	Function	Peptidase activity	IEA
GO:0008236	Function	Serine-type peptidase activity	IEA
GO:0012505	Component	Endomembrane system	IEA
GO:0016020	Component	Membrane	IEA
GO:0016485	Process	Protein processing	IBA
GO:0016485	Process	Protein processing	IDA	15606899
GO:0016486	Process	Peptide hormone processing	NAS	9341152
GO:0016787	Function	Hydrolase activity	IEA

MIM	HGNC	e!Ensembl
604872	8748	ENSG00000160613

Q16549

Protein name

Proprotein convertase subtilisin/kexin type 7 (EC 3.4.21.-) (Lymphoma proprotein convertase) (Prohormone convertase 7) (Proprotein convertase 7) (PC7) (Proprotein convertase 8) (PC8) (hPC8) (Subtilisin/kexin-like protease PC7)

Protein function

Serine endoprotease that processes various proproteins by cleavage at paired basic amino acids, recognizing the RXXX[KR]R consensus motif. Likely functions in the constitutive secretory pathway.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF16470	S8_pro-domain	53 → 141	Peptidase S8 pro-domain	Domain
PF00082	Peptidase_S8	178 → 462	Subtilase family	Domain
PF01483	P_proprotein	525 → 612	Proprotein convertase P-domain	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed in spleen, thymus, prostate, testis, ovary, small intestine, colon and peripheral blood leukocyte.

Sequence

MPKGRQKVPHLDAPLGLPTCLWLELAGLFLLVPWVMGLAGTGGPDGQGTGGPSWAVHLES
LEGDGEEETLEQQADALAQAAGLVNAGRIGELQGHYLFVQPAGHRPALEVEAIRQQVEAV
LAGHEAVRWHSEQRLLRRAKRSVHFNDPKYPQQWHLNNRRSPGRDINVTGVWERNVTGRG
VTVVVVDDGVEHTIQDIAPNYSPEGSYDLNSNDPDPMPHPDVENGNHHGTRCAGEIAAVP
NNSFCAVGVAYGSRIAGIRVLDGPLTDSMEAVAFNKHYQINDIYSCSWGPDDDGKTVDGP
HQLGKAALQHGVIAGRQGFGSIFVVASGNGGQHNDNCNYDGYANSIYTVTIGAVDEEGRM
PFYAEECASMLAVTFSGGDKMLRSIVTTDWDLQKGTGCTEGHTGTSAAAPLAAGMIALML
QVRPCLTWRDVQHIIVFTATRYEDRRAEWVTNEAGFSHSHQHGFGLLNAWRLVNAAKIWT
SVPYLASYVSPVLKENKAIPQSPRSLEVLWNVSRMDLEMSGLKTLEHVAVTVSITHPRRG
SLELKLFCPSGMMSLIGAPRSMDSDPNGFNDWTFSTVRCWGERARGTYRLVIRDVGDESF
QVGILRQWQLTLYGSVWSAVDIRDRQRLLESAMSGKYLHDDFALPCPPGLKIPEEDGYTI
TPNTLKTLVLVGCFTVFWTVYYMLEVYLSQRNVASNQVCRSGPCHWPHRSRKAKEEGTEL
ESVPLCSSKDPDEVETESRGPPTTSDLLAPDLLEQGDWSLSQNKSALDCPHQHLDVPHGK
EEQIC

Sequence length

785

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 (12)

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.
BREAST CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOVASCULAR DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EBV-positive nodal T- and NK-cell lymphoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary breast ovarian cancer syndrome	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOTHYROIDISM	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Midline facial cleft	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Pericallosal lipoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Preauricular skin tag	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Skin tags	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (49)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Adrenoleukodystrophy	Adrenoleukodystrophy	BEFREE	22503909		★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	27374198		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	27355138, 9185698		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms	Breast neoplasm	Pubtator	32820145	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	34866477	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	24436242	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	25533967, 28157411		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	25533967	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 5	Kidney Disease	BEFREE	31464346		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	BEFREE	24556216, 26868056, 28338112		★★★★★ ★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	15194050		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dermatitis, Atopic	Dermatitis	BEFREE	29467325		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	28157411		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	28157411		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	31782507		★★★★★ ★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	BEFREE	29467325		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	24556216, 26868056, 28338112		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hemochromatosis	Hemochromatosis	Pubtator	24556216, 35668470	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hemochromatosis	Hemochromatosis	BEFREE	26868056		★★★★★ ★☆☆☆☆ Found in Text Mining only
HEMOCHROMATOSIS, TYPE 1	Hemochromatosis	BEFREE	26868056		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary hemochromatosis	Hereditary Hemochromatosis	BEFREE	24556216		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperlipidemia	Hyperlipidemia	BEFREE	28157411		★★★★★ ★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	30627084		★★★★★ ★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	25504030	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intrahepatic Cholangiocarcinoma	Intrahepatic Cholangiocarcinoma	BEFREE	29348849		★★★★★ ★☆☆☆☆ Found in Text Mining only
Iron Overload	Iron Overload	BEFREE	30918065		★★★★★ ★☆☆☆☆ Found in Text Mining only
Iron Overload	Iron overload	Pubtator	35668470	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Failure Chronic	Kidney failure	Pubtator	31464346	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	BEFREE	31464346		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	30195484		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	24556216, 26868056, 28338112		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver cirrhosis	Pubtator	24556216	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	23409034, 40649939	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	27355138, 9185698		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	31810241		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	30689358		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	30247090, 30689358		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	27355138		★★★★★ ★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	31810241		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	15194050, 27355138, 27374198, 9185698		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	24684199		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	BEFREE	24861758		★★★★★ ★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychosis	BEFREE	28949339		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pyloric Stenosis, Hypertrophic	Congenital hypertrophic pyloric stenosis	GWASDB_DG	22306654, 23989729		★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	15194050		★★★★★ ★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	31621295		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	24436242		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	30689358		★★★★★ ★☆☆☆☆ Found in Text Mining only
SVEINSSON CHORIORETINAL ATROPHY	Sveinsson Chorioretinal Atrophy	BEFREE	30379191		★★★★★ ★☆☆☆☆ Found in Text Mining only

PCSK7 (proprotein convertase subtilisin/kexin type 7)