Gene Gene information from NCBI Gene database.
Entrez ID 5125
Gene name Proprotein convertase subtilisin/kexin type 5
Gene symbol PCSK5
Synonyms (NCBI Gene)
PC5PC6PC6ASPC6
Chromosome 9
Chromosome location 9q21.13
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. The encoded protein under
miRNA miRNA information provided by mirtarbase database.
244
miRTarBase ID miRNA Experiments Reference
MIRT048298 hsa-miR-107 CLASH 23622248
MIRT1218485 hsa-miR-1184 CLIP-seq
MIRT1218486 hsa-miR-1245 CLIP-seq
MIRT1218487 hsa-miR-125a-3p CLIP-seq
MIRT1218488 hsa-miR-1269 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
49
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane IBA
GO:0001822 Process Kidney development IMP 18519639
GO:0001822 Process Kidney development ISS 8940009
GO:0002001 Process Renin secretion into blood stream IEP 8901832
GO:0004175 Function Endopeptidase activity EXP 16109723, 20581395
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
600488 8747 ENSG00000099139
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q92824
Protein name Proprotein convertase subtilisin/kexin type 5 (EC 3.4.21.-) (Proprotein convertase 5) (PC5) (Proprotein convertase 6) (PC6) (hPC6) (Subtilisin/kexin-like protease PC5)
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 and regulated secretory pathways. Plays an essential role in pregnanc
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF16470 S8_pro-domain 38 114 Peptidase S8 pro-domain Domain
PF00082 Peptidase_S8 162 445 Subtilase family Domain
PF01483 P_proprotein 505 595 Proprotein convertase P-domain Family
PF14843 GF_recep_IV 635 756 Growth factor receptor domain IV Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in T-lymphocytes.
Sequence
MGWGSRCCCPGRLDLLCVLALLGGCLLPVCRTRVYTNHWAVKIAGGFPEANRIASKYGFI
NIGQIGALKDYYHFYHSRTIKRSVISSRGTHSFISMEPKVEWIQQQVVKKRTKR
DYDFSR
AQSTYFNDPKWPSMWYMHCSDNTHPCQSDMNIEGAWKRGYTGKNIVVTILDDGIERTHPD
LMQNYDALASCDVNGNDLDPMPRYDASNENKHGTRCAGEVAAAANNSHCTVGIAFNAKIG
GVRMLDGDVTDMVEAKSVSFNPQHVHIYSASWGPDDDGKTVDGPAPLTRQAFENGVRMGR
RGLGSVFVWASGNGGRSKDHCSCDGYTNSIYTISISSTAESGKKPWYLEECSSTLATTYS
SGESYDKKIITTDLRQRCTDNHTGTSASAPMAAGIIALALEANPFLTWRDVQHVIVRTSR
AGHLNANDWKTNAAGFKVSHLYGFG
LMDAEAMVMEAEKWTTVPRQHVCVESTDRQIKTIR
PNSAVRSIYKASGCSDNPNRHVNYLEHVVVRITITHPRRGDLAIYLTSPSGTRSQLLANR
LFDHSMEGFKNWEFMTIHCWGERAAGDWVLEVYDTPSQLRNFKTPGKLKEWSLVL
YGTSV
QPYSPTNEFPKVERFRYSRVEDPTDDYGTEDYAGPCDPECSEVGCDGPGPDHCNDCLHYY
YKLKNNTRICVSSCPPGHYHADKKRCRKCAPNCESCFGSHGDQCMSCKYGYFLNEETNSC
VTHCPDGSYQDTKKNLCRKCSENCKTCTEFHNCTEC
RDGLSLQGSRCSVSCEDGRYFNGQ
DCQPCHRFCATCAGAGADGCINCTEGYFMEDGRCVQSCSISYYFDHSSENGYKSCKKCDI
SCLTCNGPGFKNCTSCPSGYLLDLGMCQMGAICKDGEYVDEHGHCQTCEASCAKCQGPTQ
EDCTTCPMTRIFDDGRCVSNCPSWKFEFENQCHPCHHTCQRCQGSGPTHCTSCGADNYGR
EHFLYQGECGDSCPEGHYATEGNTCLPCPDNCELCHSVHVCTRCMKGYFIAPTNHTCQKL
ECGQGEVQDPDYEECVPCEEGCLGCSLDDPGTCTSCAMGYYRFDHHCYKTCPEKTYSEEV
ECKACDSNCGSCDQNGCYWCEEGFFLLGGSCVRKCGPGFYGDQEMGECESCHRACETCTG
PGHDECSSCQEGLQLLRGMCVHATKTQEEGKFWNDILRKLQPCHSSCKTCNGSATLCTSC
PKGAYLLAQACVSSCPQGTWPSVRSGSCENCTEACAICSGADLCKKCQMQPGHPLFLHEG
RCYSKCPEGSYAEDGICERCSSPCRTCEGNATNCHSCEGGHVLHHGVCQENCPERHVAVK
GVCKHCPEMCQDCIHEKTCKECTPEFFLHDDMCHQSCPRGFYADSRHCVPCHKDCLECSG
PKADDCELCLESSWVLYDGLCLEECPAGTYYEKETKECRDCHKSCLTCSSSGTCTTCQKG
LIMNPRGSCMANEKCSPSEYWDEDAPGCKPCHVKCFHCMGPAEDQCQTCPMNSLLLNTTC
VKDCPEGYYADEDSNRCAHCHSSCRTCEGRHSRQCHSCRPGWFQLGKECLLQCREGYYAD
NSTGRCERCNRSCKGCQGPRPTDCLSCDRFFFLLRSKGECHRSCPDHYYVEQSTQTCERC
HPTCDQCKGKGALNCLSCVWSYHLMGGICTSDCLVGEYRVGEGEKFNCEKCHESCMECKG
PGAKNCTLCPANLVLHMDDSHCLHCCNTSDPPSAQECCDCQDTTDECILRTSKVRPATEH
FKTALFITSSMMLVLLLGAAVVVWKKSRGRVQPAAKAGYEKLADPNKSYSSYKSSYREST
SFEEDQVIEYRDRDYDEDDDDDIVYMGQDGTVYRKFKYGLLDDDDIDELEYDDESYSYYQ
Sequence length 1860
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    NGF processing
Assembly of active LPL and LIPC lipase complexes
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
20
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cervical cancer Benign rs78703446 RCV005904857
Gastric cancer Benign rs78703446 RCV005904858
Hepatocellular carcinoma Benign rs78703446 RCV005904856
PCSK5-related disorder Uncertain significance; Likely benign; Benign rs531220742, rs199818235, rs1038727704, rs757935315, rs1822621346, rs41310061, rs141281372, rs574993741, rs146437583, rs148331502, rs2489484169, rs201074605, rs375843412, rs375458910, rs774726717
View all (2 more)
RCV003427832
RCV003392790
RCV003410584
RCV003904451
RCV003901863
RCV003904781
RCV003964480
RCV003914049
RCV003927315
RCV003952008
RCV003934784
RCV003937110
RCV003951456
RCV003956754
RCV003967216
RCV003950590
RCV003932838
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Anorectal Malformations Associate 23127126
Hypercholesterolemia Associate 16912035
Lung Neoplasms Associate 23409034
Neoplasms Associate 23409034, 30673970, 31695792
Renal Insufficiency Chronic Associate 35045102
Squamous Cell Carcinoma of Head and Neck Associate 31695792
Takayasu Arteritis Associate 25604533
VACTERL association Associate 26055999