Gene

pcsk9

ID

ZDB-GENE-060927-1

Name

proprotein convertase subtilisin/kexin type 9

Symbol

pcsk9 Nomenclature History

Previous Names

NARC-1 (1)

Type

protein_coding_gene

Location

Chr: 20 Mapping Details/Browsers

Description

Predicted to enable serine-type endopeptidase activity. Acts upstream of or within central nervous system development and neurogenesis. Predicted to be located in several cellular components, including Golgi apparatus; cell surface; and lysosome. Predicted to be active in extracellular space. Is expressed in several structures, including eye; integument; liver; notochord; and pleuroperitoneal region. Human ortholog(s) of this gene implicated in familial hypercholesterolemia and hypobetalipoproteinemia. Orthologous to human PCSK9 (proprotein convertase subtilisin/kexin type 9).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

11 figures from 7 publications

Cross-Species Comparison

High Throughput Data

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

No data available

Wild Type Expression Summary

Phenotype

All Phenotype Data: 2 figures from 2 publications
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With pcsk9 Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
		Hypercholesterolemia, familial, 3	603776
		{Low density lipoprotein cholesterol level QTL 1}	603776

Associated With pcsk9 Via Experimental Models

No data available

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Active_site	IPR022398	Peptidase S8, subtilisin, His-active site
Domain	IPR000209	Peptidase S8/S53 domain
Domain	IPR010259	Peptidase S8 propeptide/proteinase inhibitor I9
Domain	IPR034193	Proteinase K-like catalytic domain
Domain	IPR041051	Proprotein convertase subtilisin/kexin type 9, C-terminal domain 3
Domain	IPR041254	Proprotein convertase subtilisin/kexin type 9, C-terminal domain 1
Family	IPR015500	Peptidase S8, subtilisin-related
Family	IPR050131	Subtilisin-like serine protease
Homologous_superfamily	IPR036852	Peptidase S8/S53 domain superfamily
Homologous_superfamily	IPR037045	Peptidase S8 propeptide/proteinase inhibitor I9 superfamily

Domain Details Per Protein

Protein	Length	Peptidase S8 propeptide/proteinase inhibitor I9	Peptidase S8 propeptide/proteinase inhibitor I9 superfamily	Peptidase S8/S53 domain	Peptidase S8/S53 domain superfamily	Peptidase S8, subtilisin, His-active site	Peptidase S8, subtilisin-related	Proprotein convertase subtilisin/kexin type 9, C-terminal domain 1	Proprotein convertase subtilisin/kexin type 9, C-terminal domain 3	Proteinase K-like catalytic domain	Subtilisin-like serine protease
UniProtKB:E7F2J6 InterPro	667

Transcripts

Genome Browsers

NCBI

Type	Name	Annotation Method	Has Havana Data	Length (nt)	Analysis
mRNA	pcsk9-201 (1) Ensembl	Ensembl		2,004 nt	Select Tool ZFIN BLAST

Interactions and Pathways

No data available

Antibodies

Name	Type	Antigen Genes	Isotype	Host Organism	Assay	Source	Citations
Ab1-pcsk9	polyclonal	pcsk9		Rabbit	WB		1

Plasmids

No data available

Constructs

Marker Relationships

Sequences

Orthology

Comparative Orthology: Alliance
Gene Tree: Ensembl

Citations