CTSF cathepsin F [Homo sapiens (human)] - Gene

Summary

Official Symbol: CTSFprovided by HGNC
Official Full Name: cathepsin Fprovided by HGNC
Primary source: HGNC:HGNC:2531
See related: Ensembl:ENSG00000174080 MIM:603539; AllianceGenome:HGNC:2531
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: CATSF; CLN13
Summary: Cathepsins are papain family cysteine proteinases that represent a major component of the lysosomal proteolytic system. Cathepsins generally contain a signal sequence, followed by a propeptide and then a catalytically active mature region. The very long (251 amino acid residues) proregion of the cathepsin F precursor contains a C-terminal domain similar to the pro-segment of cathepsin L-like enzymes, a 50-residue flexible linker peptide, and an N-terminal domain predicted to adopt a cystatin-like fold. The cathepsin F proregion is unique within the papain family cysteine proteases in that it contains this additional N-terminal segment predicted to share structural similarities with cysteine protease inhibitors of the cystatin superfamily. This cystatin-like domain contains some of the elements known to be important for inhibitory activity. CTSF encodes a predicted protein of 484 amino acids which contains a 19 residue signal peptide. Cathepsin F contains five potential N-glycosylation sites, and it may be targeted to the endosomal/lysosomal compartment via the mannose 6-phosphate receptor pathway. The cathepsin F gene is ubiquitously expressed, and it maps to chromosome 11q13, close to the gene encoding cathepsin W. [provided by RefSeq, Jul 2008]
Expression: Broad expression in ovary (RPKM 64.5), testis (RPKM 55.5) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 11q13.2

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (66563464..66568606, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (66559711..66564853, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (66330935..66336077, complement)

Chromosome 11 - NC_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Cathepsin F genetic mutation is associated with familial papillary thyroid cancer.
Title: Cathepsin F genetic mutation is associated with familial papillary thyroid cancer.
Long noncoding RNA LINC00982 upregulates CTSF expression to inhibit gastric cancer progression via the transcription factor HEY1.
Title: Long noncoding RNA LINC00982 upregulates CTSF expression to inhibit gastric cancer progression via the transcription factor HEY1.
Clinical distinction of type A (progressive myoclonus epilepsy) and type B (dementia with motor disturbance) Kufs disease was supported by molecular diagnoses. Type A is usually caused by recessive pathogenic variants in CLN6 or dominant variants in DNAJC5. Type B Kufs is usually associated with recessive CTSF pathogenic variants.
Title: Kufs disease due to mutation of CLN6: clinical, pathological and molecular genetic features.
The CTSF gene may function as a tumor suppressor in gastric cancer
Title: Cathepsin F Knockdown Induces Proliferation and Inhibits Apoptosis in Gastric Cancer Cells.
Biallelic mutations in this gene have been shown to cause Type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosis with some cases resembling the impairment seen in AD.
Title: Exome sequencing in a consanguineous family clinically diagnosed with early-onset Alzheimer's disease identifies a homozygous CTSF mutation.
Disease-causing cathepsin-F mutants fail to cleave LIMP-2. Our findings provide evidence that LIMP-2 represents an in vivo substrate of cathepsin-F with relevance for understanding the pathophysiology of type-B-Kufs-disease.
Title: Lysosomal integral membrane protein type-2 (LIMP-2/SCARB2) is a substrate of cathepsin-F, a cysteine protease mutated in type-B-Kufs-disease.
Small hairpin RNA silencing of proteinases overexpressed in diabetic corneas enhanced corneal epithelial and stem cell marker staining and accelerated wound healing.
Title: Enhanced wound healing, kinase and stem cell marker expression in diabetic organ-cultured human corneas upon MMP-10 and cathepsin F gene silencing.
Homozygous and compound heterozygous missense mutations in CTSF are associated with adult-onset neuronal ceroid lipofuscinosis.
Title: Cathepsin F mutations cause Type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosis.
Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
Observational study of gene-disease association. (HuGE Navigator)
Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.

Submit: New GeneRIF Correction See all GeneRIFs (13)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Neuronal ceroid lipofuscinosis 13 MedGen: C3715049 OMIM: 615362 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
Genome-wide association and meta-analysis of bipolar disorder in individuals of European ancestry. EBI GWAS Catalog EBI GWAS CatalogPubMed
Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH47283 (e-PCR)
- UniSTS:60704

GDB:197568 (e-PCR)
- UniSTS:155948

MARC_6499-6500:992007251:1 (e-PCR)
- UniSTS:231233

MARC_6499-6500:996689713:1 (e-PCR)
- UniSTS:231233

ACTN3 (e-PCR)
- UniSTS:9576

STS-M86407 (e-PCR)
- UniSTS:61809

G54071 (e-PCR)
- UniSTS:109453

STS-W72567 (e-PCR)
- UniSTS:54739

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables cysteine-type endopeptidase activity	IBA Inferred from Biological aspect of Ancestor more info
enables cysteine-type endopeptidase activity	TAS Traceable Author Statement more info

Process	Evidence Code	Pubs
involved_in antigen processing and presentation of exogenous peptide antigen via MHC class II	TAS Traceable Author Statement more info
involved_in proteolysis	TAS Traceable Author Statement more info	PubMed
involved_in proteolysis involved in protein catabolic process	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in collagen-containing extracellular matrix	HDA more info	PubMed
located_in endoplasmic reticulum	IDA Inferred from Direct Assay more info
located_in extracellular exosome	HDA more info	PubMed
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular vesicle	HDA more info	PubMed
located_in intracellular membrane-bounded organelle	IDA Inferred from Direct Assay more info
located_in lysosomal lumen	TAS Traceable Author Statement more info
is_active_in lysosome	IBA Inferred from Biological aspect of Ancestor more info
located_in lysosome	TAS Traceable Author Statement more info	PubMed
located_in plasma membrane	IDA Inferred from Direct Assay more info

General protein information

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Preferred Names: cathepsin F

NP_003784.2

EC 3.4.22.41

XP_011543630.1

EC 3.4.22.41

XP_054226331.1

EC 3.4.22.41

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_032973.1 RefSeqGene

Range

4971..10113

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_003793.4 → NP_003784.2 cathepsin F precursor

See identical proteins and their annotated locations for NP_003784.2

Status: REVIEWED

Source sequence(s)

AF088886, AF136279, AL137742, AP002748, BC011682

Consensus CDS

CCDS8144.1

UniProtKB/Swiss-Prot

B2R964, O95240, Q9NSU4, Q9UBX1, Q9UKQ5

UniProtKB/TrEMBL

A0A7I2V2K3, H0YD65

Related

ENSP00000310832.5, ENST00000310325.10

Conserved Domains (2) summary

smart00848
Location:187 → 243

Inhibitor_I29; Cathepsin propeptide inhibitor domain (I29)

pfam00112
Location:271 → 482

Peptidase_C1; Papain family cysteine protease

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000011.10 Reference GRCh38.p14 Primary Assembly

Range

66563464..66568606 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011545328.3 → XP_011543630.1 cathepsin F isoform X1

UniProtKB/TrEMBL

A0A024R5G9, E9PSC2

Related

ENST00000677779.1

Conserved Domains (2) summary

smart00848
Location:127 → 183

Inhibitor_I29; Cathepsin propeptide inhibitor domain (I29)

pfam00112
Location:211 → 422

Peptidase_C1; Papain family cysteine protease