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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	8722
Gene name	Cathepsin F
Gene symbol	CTSF
Synonyms (NCBI Gene)	CATSFCLN13
Chromosome	11
Chromosome location	11q13.2
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 (

Show/Hide all (12)

SNP ID	Visualize variation	Clinical significance	Consequence
rs141915593	T>C,G	Likely-pathogenic	Splice acceptor variant
rs143313688	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs143889283	T>C	Pathogenic	Coding sequence variant, missense variant
rs148611356	G>C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs375562245	G>A,C	Pathogenic	Missense variant, stop gained, coding sequence variant
rs397514731	T>C	Pathogenic	Missense variant, coding sequence variant
rs397514732	C>G,T	Pathogenic	Missense variant, coding sequence variant
rs397514733	G>A	Pathogenic	Missense variant, coding sequence variant
rs753084727	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs797045136	C>G	Pathogenic	Splice donor variant, upstream transcript variant, genic upstream transcript variant
rs1555058286	CC>-	Pathogenic	Coding sequence variant, frameshift variant
rs1565311875	A>G	Pathogenic	Coding sequence variant, missense variant

Show/Hide all (27)

miRTarBase ID	miRNA	Experiments	Reference
MIRT018210	hsa-miR-335-5p	Microarray	18185580
MIRT2207335	hsa-miR-383	CLIP-seq
MIRT2207336	hsa-miR-4691-3p	CLIP-seq
MIRT2207337	hsa-miR-4714-5p	CLIP-seq
MIRT2207338	hsa-miR-4772-5p	CLIP-seq
MIRT2207339	hsa-miR-486-3p	CLIP-seq
MIRT2510460	hsa-miR-140-3p	CLIP-seq
MIRT2510461	hsa-miR-18a	CLIP-seq
MIRT2510462	hsa-miR-18b	CLIP-seq
MIRT2510463	hsa-miR-298	CLIP-seq
MIRT2510464	hsa-miR-3065-5p	CLIP-seq
MIRT2510465	hsa-miR-3127-5p	CLIP-seq
MIRT2510466	hsa-miR-342-5p	CLIP-seq
MIRT2510467	hsa-miR-3665	CLIP-seq
MIRT2510468	hsa-miR-412	CLIP-seq
MIRT2510469	hsa-miR-421	CLIP-seq
MIRT2510470	hsa-miR-4272	CLIP-seq
MIRT2510471	hsa-miR-4480	CLIP-seq
MIRT2510472	hsa-miR-4651	CLIP-seq
MIRT2510473	hsa-miR-4664-5p	CLIP-seq
MIRT2510474	hsa-miR-4735-3p	CLIP-seq
MIRT2510475	hsa-miR-608	CLIP-seq
MIRT2510476	hsa-miR-657	CLIP-seq
MIRT2510477	hsa-miR-764	CLIP-seq
MIRT2510460	hsa-miR-140-3p	CLIP-seq
MIRT2510468	hsa-miR-412	CLIP-seq
MIRT2510471	hsa-miR-4480	CLIP-seq

Show/Hide all (26)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002376	Process	Immune system process	IEA
GO:0004197	Function	Cysteine-type endopeptidase activity	IBA
GO:0004197	Function	Cysteine-type endopeptidase activity	IEA
GO:0004197	Function	Cysteine-type endopeptidase activity	TAS	9822672
GO:0005515	Function	Protein binding	IPI	15752368
GO:0005615	Component	Extracellular space	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005764	Component	Lysosome	IBA
GO:0005764	Component	Lysosome	IEA
GO:0005764	Component	Lysosome	TAS	9822672
GO:0005783	Component	Endoplasmic reticulum	IDA
GO:0005886	Component	Plasma membrane	IDA
GO:0006508	Process	Proteolysis	IEA
GO:0006508	Process	Proteolysis	TAS	9822672
GO:0008233	Function	Peptidase activity	IEA
GO:0008234	Function	Cysteine-type peptidase activity	IDA	15752368
GO:0008234	Function	Cysteine-type peptidase activity	IEA
GO:0012505	Component	Endomembrane system	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0019886	Process	Antigen processing and presentation of exogenous peptide antigen via MHC class II	TAS
GO:0031012	Component	Extracellular matrix	HDA	25037231
GO:0043202	Component	Lysosomal lumen	TAS
GO:0051603	Process	Proteolysis involved in protein catabolic process	IBA
GO:0070013	Component	Intracellular organelle lumen	IEA
GO:0070062	Component	Extracellular exosome	HDA	18570454
GO:1903561	Component	Extracellular vesicle	HDA	24769233

MIM	HGNC	e!Ensembl
603539	2531	ENSG00000174080

Q9UBX1

Protein name

Cathepsin F (CATSF) (EC 3.4.22.41)

Protein function

Thiol protease which is believed to participate in intracellular degradation and turnover of proteins. Has also been implicated in tumor invasion and metastasis.

PDB

1M6D

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF08246	Inhibitor_I29	187 → 244	Cathepsin propeptide inhibitor domain (I29)	Domain
PF00112	Peptidase_C1	271 → 482	Papain family cysteine protease	Domain

Tissue specificity

TISSUE SPECIFICITY: High expression levels in heart, skeletal muscle, brain, testis and ovary; moderate levels in prostate, placenta, liver and colon; and no detectable expression in peripheral leukocytes and thymus.

Sequence

MAPWLQLLSLLGLLPGAVAAPAQPRAASFQAWGPPSPELLAPTRFALEMFNRGRAAGTRA
VLGLVRGRVRRAGQGSLYSLEATLEEPPCNDPMVCRLPVSKKTLLCSFQVLDELGRHVLL
RKDCGPVDTKVPGAGEPKSAFTQGSAMISSLSQNHPDNRNETFSSVISLLNEDPLSQDLP
VKMASIFKNFVITYNRTYESKEEARWRLSVFVNNMVRAQKIQALDRGTAQYGVTKFSDLT
EEEFRTIYLNTLLRKEPGNKMKQAKSVGDLAPPEWDWRSKGAVTKVKDQGMCGSCWAFSV
TGNVEGQWFLNQGTLLSLSEQELLDCDKMDKACMGGLPSNAYSAIKNLGGLETEDDYSYQ
GHMQSCNFSAEKAKVYINDSVELSQNEQKLAAWLAKRGPISVAINAFGMQFYRHGISRPL
RPLCSPWLIDHAVLLVGYGNRSDVPFWAIKNSWGTDWGEKGYYYLHRGSGACGVNTMASS
AVVD

Sequence length

484

Interactions

View interactions

	KEGG		Reactome
	Lysosome Apoptosis		MHC class II antigen presentation

140

Show/Hide Causal Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
CTSF-related disorder	Likely pathogenic	rs929020615	RCV003404379
Neurodevelopmental disorder	Likely pathogenic	rs2134954582	RCV001375004
Neuronal ceroid lipofuscinosis	Likely pathogenic; Pathogenic	rs2134951897, rs1857984449, rs2495284476, rs1336749001, rs2495286249, rs2495273817	RCV002509766 RCV002271804 RCV002282861 RCV002308685 RCV002470047 RCV003487266
Neuronal ceroid lipofuscinosis 13	Pathogenic; Likely pathogenic	rs758004789, rs1456291681, rs2134954887, rs797045136, rs1051519244, rs2495276170, rs766762684, rs1555058286, rs397514731, rs397514732, rs753084727, rs1565311875	RCV003112039 RCV001780897 RCV001780898 RCV000190878 RCV003314379 RCV003742256 RCV003876821 RCV000504328 RCV000054490 RCV000054491 RCV000054494 RCV000995752
See cases	Likely pathogenic	rs2134949827	RCV002252527

Show/Hide Unknown Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Cholangiocarcinoma	Uncertain significance	rs776303065	RCV005920751
Developmental disorder	Uncertain significance	rs2134950758	RCV001843791
Nonpapillary renal cell carcinoma	Likely benign	rs768353764	RCV005901862
Sarcoma	Uncertain significance	rs200426008	RCV005925600

Show/Hide Text Mining Associations (21)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Agenesis of Corpus Callosum	Associate	26141065
Alzheimer Disease	Associate	27524508, 31521194
Behcet Syndrome	Inhibit	39191728
Breast Neoplasms	Associate	34646403
Carcinoma Basal Cell	Stimulate	39312365
Carcinoma Non Small Cell Lung	Associate	34923982
Dermatitis	Associate	36057013
Diabetes Mellitus	Associate	16186340, 24255036, 25446319, 27077448, 33181273
Diabetic Retinopathy	Stimulate	16186340
Esophageal Neoplasms	Associate	34716287
Fabry Disease	Associate	31378672
Frontotemporal Dementia	Associate	28749476, 34561610
Leukoencephalopathies	Associate	26141065
Lung Neoplasms	Associate	34923982
Lymphatic Metastasis	Associate	28474574
Macular Degeneration	Associate	36705323
Neoplasms	Associate	24553122, 28474574, 36057013
Neuronal Ceroid Lipofuscinoses	Associate	26141065, 27524508
Squamous Intraepithelial Lesions	Stimulate	15989693
Stomach Neoplasms	Associate	28474574, 33236952
Uterine Cervical Neoplasms	Associate	15989693

CTSF (cathepsin F)