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

Gene Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	5046
Gene name Gene Name - the full gene name approved by the HGNC.	Proprotein convertase subtilisin/kexin type 6
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	PCSK6
Synonyms (NCBI Gene) Gene synonyms aliases	PACE4, SPC4
Chromosome Chromosome number	15
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	15q26.3
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. The encoded protein under

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miRTarBase ID	miRNA	Experiments	Reference
MIRT039239	hsa-miR-454-3p	CLASH	23622248
MIRT701011	hsa-miR-302f	HITS-CLIP	23313552
MIRT701010	hsa-miR-6782-3p	HITS-CLIP	23313552
MIRT701009	hsa-miR-3190-5p	HITS-CLIP	23313552
MIRT701008	hsa-miR-219b-3p	HITS-CLIP	23313552
MIRT701007	hsa-miR-4529-5p	HITS-CLIP	23313552
MIRT701006	hsa-miR-3652	HITS-CLIP	23313552
MIRT701005	hsa-miR-4430	HITS-CLIP	23313552
MIRT701004	hsa-miR-4505	HITS-CLIP	23313552
MIRT701003	hsa-miR-5787	HITS-CLIP	23313552
MIRT701002	hsa-miR-1273e	HITS-CLIP	23313552
MIRT701001	hsa-miR-548s	HITS-CLIP	23313552
MIRT701000	hsa-miR-4701-5p	HITS-CLIP	23313552
MIRT700999	hsa-miR-588	HITS-CLIP	23313552
MIRT700998	hsa-miR-4435	HITS-CLIP	23313552
MIRT700997	hsa-miR-3187-3p	HITS-CLIP	23313552
MIRT700996	hsa-miR-647	HITS-CLIP	23313552
MIRT700995	hsa-miR-6842-3p	HITS-CLIP	23313552
MIRT701011	hsa-miR-302f	HITS-CLIP	23313552
MIRT701010	hsa-miR-6782-3p	HITS-CLIP	23313552
MIRT701009	hsa-miR-3190-5p	HITS-CLIP	23313552
MIRT701008	hsa-miR-219b-3p	HITS-CLIP	23313552
MIRT701007	hsa-miR-4529-5p	HITS-CLIP	23313552
MIRT701006	hsa-miR-3652	HITS-CLIP	23313552
MIRT701005	hsa-miR-4430	HITS-CLIP	23313552
MIRT701004	hsa-miR-4505	HITS-CLIP	23313552
MIRT701003	hsa-miR-5787	HITS-CLIP	23313552
MIRT701002	hsa-miR-1273e	HITS-CLIP	23313552
MIRT701001	hsa-miR-548s	HITS-CLIP	23313552
MIRT701000	hsa-miR-4701-5p	HITS-CLIP	23313552
MIRT700999	hsa-miR-588	HITS-CLIP	23313552
MIRT700998	hsa-miR-4435	HITS-CLIP	23313552
MIRT700997	hsa-miR-3187-3p	HITS-CLIP	23313552
MIRT700996	hsa-miR-647	HITS-CLIP	23313552
MIRT700995	hsa-miR-6842-3p	HITS-CLIP	23313552
MIRT1218527	hsa-miR-1271	CLIP-seq
MIRT1218528	hsa-miR-182	CLIP-seq
MIRT1218529	hsa-miR-21	CLIP-seq
MIRT1218530	hsa-miR-3163	CLIP-seq
MIRT1218531	hsa-miR-340	CLIP-seq
MIRT1218532	hsa-miR-3662	CLIP-seq
MIRT1218533	hsa-miR-4464	CLIP-seq
MIRT1218534	hsa-miR-4672	CLIP-seq
MIRT1218535	hsa-miR-4748	CLIP-seq
MIRT1218536	hsa-miR-4773	CLIP-seq
MIRT1218537	hsa-miR-548c-3p	CLIP-seq
MIRT1218538	hsa-miR-590-5p	CLIP-seq
MIRT1218539	hsa-miR-96	CLIP-seq
MIRT1218540	hsa-miR-103a	CLIP-seq
MIRT1218541	hsa-miR-107	CLIP-seq
MIRT1218542	hsa-miR-15a	CLIP-seq
MIRT1218543	hsa-miR-15b	CLIP-seq
MIRT1218544	hsa-miR-16	CLIP-seq
MIRT1218545	hsa-miR-195	CLIP-seq
MIRT1218546	hsa-miR-424	CLIP-seq
MIRT1218547	hsa-miR-4310	CLIP-seq
MIRT1218548	hsa-miR-497	CLIP-seq
MIRT1218549	hsa-miR-3920	CLIP-seq
MIRT1218550	hsa-miR-3921	CLIP-seq
MIRT1218551	hsa-miR-4653-5p	CLIP-seq
MIRT1218552	hsa-miR-4768-5p	CLIP-seq
MIRT1218553	hsa-miR-146a	CLIP-seq
MIRT1218554	hsa-miR-146b-5p	CLIP-seq
MIRT1218555	hsa-miR-218	CLIP-seq
MIRT1218530	hsa-miR-3163	CLIP-seq
MIRT1218532	hsa-miR-3662	CLIP-seq
MIRT1218556	hsa-miR-3908	CLIP-seq
MIRT1218557	hsa-miR-3910	CLIP-seq
MIRT1218558	hsa-miR-3942-5p	CLIP-seq
MIRT1218559	hsa-miR-4703-5p	CLIP-seq
MIRT1218560	hsa-miR-4766-3p	CLIP-seq
MIRT1218536	hsa-miR-4773	CLIP-seq
MIRT1218561	hsa-miR-589	CLIP-seq
MIRT1218562	hsa-miR-636	CLIP-seq
MIRT2439230	hsa-miR-375	CLIP-seq
MIRT2439231	hsa-miR-4320	CLIP-seq
MIRT2439232	hsa-miR-4326	CLIP-seq
MIRT2439233	hsa-miR-4760-3p	CLIP-seq
MIRT2439234	hsa-miR-579	CLIP-seq
MIRT2439235	hsa-miR-664	CLIP-seq
MIRT2439230	hsa-miR-375	CLIP-seq
MIRT2439231	hsa-miR-4320	CLIP-seq
MIRT2439232	hsa-miR-4326	CLIP-seq
MIRT2439233	hsa-miR-4760-3p	CLIP-seq
MIRT2439234	hsa-miR-579	CLIP-seq
MIRT2439235	hsa-miR-664	CLIP-seq

Transcription factors

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Transcription factor	Regulation	Reference
ASCL1	Repression	11736660
E2F1	Activation	17825503

Show/Hide all(40)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004175	Function	Endopeptidase activity	IDA	9242664
GO:0004175	Function	Endopeptidase activity	TAS
GO:0004252	Function	Serine-type endopeptidase activity	IBA
GO:0004252	Function	Serine-type endopeptidase activity	IDA	8218226, 8615794, 8906861
GO:0004252	Function	Serine-type endopeptidase activity	IEA
GO:0005515	Function	Protein binding	IPI	16433634, 32296183
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IBA
GO:0005615	Component	Extracellular space	IDA	8906861
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005796	Component	Golgi lumen	TAS
GO:0005886	Component	Plasma membrane	TAS
GO:0006508	Process	Proteolysis	IEA
GO:0007354	Process	Zygotic determination of anterior/posterior axis, embryo	IEA
GO:0007368	Process	Determination of left/right symmetry	IEA
GO:0008201	Function	Heparin binding	IDA	12535616
GO:0008233	Function	Peptidase activity	IEA
GO:0008236	Function	Serine-type peptidase activity	IEA
GO:0009100	Process	Glycoprotein metabolic process	IDA	8218226
GO:0009986	Component	Cell surface	IBA
GO:0009986	Component	Cell surface	IDA	12535616
GO:0012505	Component	Endomembrane system	IEA
GO:0016020	Component	Membrane	IBA
GO:0016020	Component	Membrane	IEA
GO:0016485	Process	Protein processing	IDA	8218226, 9242664, 9738469
GO:0016485	Process	Protein processing	IEA
GO:0016486	Process	Peptide hormone processing	IBA
GO:0016486	Process	Peptide hormone processing	IDA	9242664
GO:0016486	Process	Peptide hormone processing	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0030510	Process	Regulation of BMP signaling pathway	TAS	10467177
GO:0031012	Component	Extracellular matrix	IBA
GO:0031012	Component	Extracellular matrix	IDA	12535616
GO:0032902	Process	Nerve growth factor production	IDA	8615794
GO:0032940	Process	Secretion by cell	IDA	8615794
GO:0032940	Process	Secretion by cell	IEA
GO:0034369	Process	Plasma lipoprotein particle remodeling	IEA
GO:0034369	Process	Plasma lipoprotein particle remodeling	TAS
GO:0048406	Function	Nerve growth factor binding	IDA	8615794

MIM	HGNC	e!Ensembl
167405	8569	ENSG00000140479

Protein

UniProt ID

P29122

Protein name

Proprotein convertase subtilisin/kexin type 6 (EC 3.4.21.-) (Paired basic amino acid cleaving enzyme 4) (Subtilisin-like proprotein convertase 4) (SPC4) (Subtilisin/kexin-like protease PACE4)

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, with unique restricted distribution in both neuroe

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF16470	S8_pro-domain	73 → 149	Peptidase S8 pro-domain	Domain
PF00082	Peptidase_S8	196 → 479	Subtilase family	Domain
PF01483	P_proprotein	539 → 629	Proprotein convertase P-domain	Family
PF14843	GF_recep_IV	694 → 812	Growth factor receptor domain IV	Domain
PF08686	PLAC	935 → 966	PLAC (protease and lacunin) domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Each PACE4 isoform exhibits a unique restricted distribution. Isoform PACE4A-I is expressed in heart, brain, placenta, lung, skeletal muscle, kidney, pancreas, but at comparatively higher levels in the liver. Isoform PACE4A-II is at le

Sequence

MPPRAPPAPGPRPPPRAAAATDTAAGAGGAGGAGGAGGPGFRPLAPRPWRWLLLLALPAA
CSAPPPRPVYTNHWAVQVLGGPAEADRVAAAHGYLNLGQIGNLEDYYHFYHSKTFKRSTL
SSRGPHTFLRMDPQVKWLQQQEVKRRVKRQVRSDPQALYFNDPIWSNMWYLHCGDKNSRC
RSEMNVQAAWKRGYTGKNVVVTILDDGIERNHPDLAPNYDSYASYDVNGNDYDPSPRYDA
SNENKHGTRCAGEVAASANNSYCIVGIAYNAKIGGIRMLDGDVTDVVEAKSLGIRPNYID
IYSASWGPDDDGKTVDGPGRLAKQAFEYGIKKGRQGLGSIFVWASGNGGREGDYCSCDGY
TNSIYTISVSSATENGYKPWYLEECASTLATTYSSGAFYERKIVTTDLRQRCTDGHTGTS
VSAPMVAGIIALALEANSQLTWRDVQHLLVKTSRPAHLKASDWKVNGAGHKVSHFYGFGL
VDAEALVVEAKKWTAVPSQHMCVAASDKRPRSIPLVQVLRTTALTSACAEHSDQRVVYLE
HVVVRTSISHPRRGDLQIYLVSPSGTKSQLLAKRLLDLSNEGFTNWEFMTVHCWGEKAEG
QWTLEIQDLPSQVRNPEKQGKLKEWSLILYGTAEHPYHTFSAHQSRSRMLELSAPELEPP
KAALSPSQVEVPEDEEDYTAQSTPGSANILQTSVCHPECGDKGCDGPNADQCLNCVHFSL
GSVKTSRKCVSVCPLGYFGDTAARRCRRCHKGCETCSSRAATQCLSCRRGFYHHQEMNTC
VTLCPAGFYADESQKNCLKCHPSCKKCVDEPEKCTVCKEGFSLARGSCIPDCEPGTYFDS
ELIRCGECHHTCGTCVGPGREECIHCAKNFHFHDWKCVPACGEGFYPEEMPGLPHKVCRR
CDENCLSCAGSSRNCSRCKTGFTQLGTSCITNHTCSNADETFCEMVKSNRLCERKLFIQF
CCRTCLLAG

Sequence length

969

Interactions

View interactions

	Reactome
			NGF processing Formation of the cornified envelope Assembly of active LPL and LIPC lipase complexes

Show/Hide Unknown Diseases (1)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Diabetes	Type 2 diabetes	N/A	N/A	GWAS

Show/Hide Text Mining Associations (23)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Acute Lung Injury	Associate	37937296
Adenocarcinoma	Associate	9166946
Arthritis Rheumatoid	Associate	37149637
Atherosclerosis	Associate	33359561
Carcinoma Squamous Cell	Associate	9166946
Dyslexia	Associate	21051773, 26908617
Facial Asymmetry	Associate	21051773
Femur Head Necrosis	Associate	28393228
Heart Defects Congenital	Associate	23705960
Idiopathic Pulmonary Fibrosis	Associate	36780644
Immunoglobulin G4 Related Disease	Associate	21051773
Inflammation	Stimulate	33359561
Inflammation	Associate	37937296
Lung Neoplasms	Associate	23409034, 9166946
Mouth Neoplasms	Associate	35410344
Neoplasm Metastasis	Associate	26604689
Neoplasms	Associate	23409034, 26604689, 30340539, 35410344, 9166946
Neuroblastoma	Associate	11736660
Plaque Atherosclerotic	Associate	33359561
Prostatic Neoplasms	Associate	23126600, 26604689, 30340539, 35410344
Small Cell Lung Carcinoma	Associate	9166946
Stomach Neoplasms	Associate	39206893
Thyroid Neoplasms	Associate	30340539

PCSK6 (proprotein convertase subtilisin/kexin type 6)