Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
9159
Gene name Gene Name - the full gene name approved by the HGNC.
Proprotein convertase subtilisin/kexin type 7
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PCSK7
Synonyms (NCBI Gene) Gene synonyms aliases
LPC, PC7, PC8, SPC7
Chromosome Chromosome number
11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
11q23.3
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0004252 Function Serine-type endopeptidase activity IBA 21873635
GO:0005515 Function Protein binding IPI 32814053
GO:0005802 Component Trans-Golgi network IBA 21873635
GO:0008233 Function Peptidase activity IDA 15606899
GO:0016020 Component Membrane IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
604872 8748 ENSG00000160613
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Unknown
Disease term Disease name Evidence References Source
Breast Cancer Breast Cancer Importantly, breast cancer patients bearing PRC2 LOF mutations displayed significantly worse prognosis compared with PRC2 wild-type patients GWAS, CBGDA
Metabolic Syndrome Metabolic Syndrome GWAS
Hypothyroidism Hypothyroidism GWAS
Associations from Text Mining
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