Gene Gene information from NCBI Gene database.
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
miRNA miRNA information provided by mirtarbase database.
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
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
604872 8748 ENSG00000160613
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
LAGHEAVRWHSEQRLLRRAKR
SVHFNDPKYPQQWHLNNRRSPGRDINVTGVWERNVTGRG
VTVVVVDDGVEHTIQDIAPNYSPEGSYDLNSNDPDPMPHPDVENGNHHGTRCAGEIAAVP
NNSFCAVGVAYGSRIAGIRVLDGPLTDSMEAVAFNKHYQINDIYSCSWGPDDDGKTVDGP
HQLGKAALQHGVIAGRQGFGSIFVVASGNGGQHNDNCNYDGYANSIYTVTIGAVDEEGRM
PFYAEECASMLAVTFSGGDKMLRSIVTTDWDLQKGTGCTEGHTGTSAAAPLAAGMIALML
QVRPCLTWRDVQHIIVFTATRYEDRRAEWVTNEAGFSHSHQH
GFGLLNAWRLVNAAKIWT
SVPYLASYVSPVLKENKAIPQSPRSLEVLWNVSRMDLEMSGLKTLEHVAVTVSITHPRRG
SLELKLFCPSGMMSLIGAPRSMDSDPNGFNDWTFSTVRCWGERARGTYRLVIRDVGDESF
QVGILRQWQLTL
YGSVWSAVDIRDRQRLLESAMSGKYLHDDFALPCPPGLKIPEEDGYTI
TPNTLKTLVLVGCFTVFWTVYYMLEVYLSQRNVASNQVCRSGPCHWPHRSRKAKEEGTEL
ESVPLCSSKDPDEVETESRGPPTTSDLLAPDLLEQGDWSLSQNKSALDCPHQHLDVPHGK
EEQIC
Sequence length 785
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
8
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
EBV-positive nodal T- and NK-cell lymphoma Likely benign rs758474960 RCV004557874
Hereditary breast ovarian cancer syndrome Uncertain significance rs143209024 RCV001374497
Midline facial cleft Uncertain significance rs202038275 RCV001375858
Pericallosal lipoma Uncertain significance rs202038275, rs771986131 RCV001375858
RCV001375859
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Acute Coronary Syndrome Associate 34207761
Breast Neoplasms Associate 32820145
Carcinoma Hepatocellular Associate 34866477
Carcinoma Non Small Cell Lung Associate 33474835
Carcinoma Squamous Cell Associate 24436242
Cardiovascular Diseases Associate 25533967
Fibrosis Associate 24556216
Hemochromatosis Associate 24556216, 35668470
Insulin Resistance Associate 25504030
Iron Overload Associate 35668470