Human Gene CTSB (ENST00000353047.11_12) from GENCODE V47lift37

JavaScript is disabled in your web browser

You must have JavaScript enabled in your web browser to use the Genome Browser

Description: cathepsin B, transcript variant 1 (from RefSeq NM_001908.5)
Gencode Transcript: ENST00000353047.11_12
Gencode Gene: ENSG00000164733.23_18
Transcript (Including UTRs)
Position: hg19 chr8:11,700,033-11,725,596 Size: 25,564 Total Exon Count: 10 Strand: -
Coding Region
Position: hg19 chr8:11,702,634-11,710,963 Size: 8,330 Coding Exon Count: 9

Page Index	Sequence and Links	UniProtKB Comments	Primers	MalaCards	CTD
Gene Alleles	RNA-Seq Expression	Microarray Expression	RNA Structure	Protein Structure	Other Species
GO Annotations	mRNA Descriptions	Pathways	Other Names	Model Information	Methods

Data last updated at UCSC: 2024-08-22 23:36:26

Sequence and Links to Tools and Databases

Genomic Sequence (chr8:11,700,033-11,725,596)			mRNA (may differ from genome)		Protein (339 aa)
Gene Sorter	Genome Browser	Other Species FASTA	VisiGene	Gene interactions	Table Schema
AlphaFold	BioGPS	Ensembl	Entrez Gene	ExonPrimer	GeneCards
HGNC	Malacards	MGI	OMIM	PubMed	Reactome
UniProtKB	Wikipedia	BioGrid CRISPR DB

Comments and Description Text from UniProtKB


	ID: CATB_HUMAN DESCRIPTION: RecName: Full=Cathepsin B; EC=3.4.22.1; AltName: Full=APP secretase; Short=APPS; AltName: Full=Cathepsin B1; Contains: RecName: Full=Cathepsin B light chain; Contains: RecName: Full=Cathepsin B heavy chain; Flags: Precursor; FUNCTION: Thiol protease which is believed to participate in intracellular degradation and turnover of proteins. Has also been implicated in tumor invasion and metastasis. CATALYTIC ACTIVITY: Hydrolysis of proteins with broad specificity for peptide bonds. Preferentially cleaves -Arg-Arg-\|-Xaa bonds in small molecule substrates (thus differing from cathepsin L). In addition to being an endopeptidase, shows peptidyl-dipeptidase activity, liberating C-terminal dipeptides. SUBUNIT: Dimer of a heavy chain and a light chain cross-linked by a disulfide bond. Interacts with SRPX2. INTERACTION: P40692:MLH1; NbExp=7; IntAct=EBI-715062, EBI-744248; SUBCELLULAR LOCATION: Lysosome. Melanosome. Note=Identified by mass spectrometry in melanosome fractions from stage I to stage IV. SIMILARITY: Belongs to the peptidase C1 family. WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/CTSBID40202ch8p23.html";

Primer design for this transcript

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3

MalaCards Disease Associations


	MalaCards Gene Search: CTSB Diseases sorted by gene-association score: keratolytic winter erythema* (31), occlusion of gallbladder (16), acute pancreatitis (12), tropical calcific pancreatitis (9), ileum cancer (9), gingival overgrowth (9), laryngostenosis (9), cerebral aneurysms (8), lysosomal acid phosphatase deficiency (8), non-suppurative otitis media (6), bone giant cell tumor (6), tinea favosa (6), mucolipidosis ii alpha/beta (5), chronic tic disorder (5), retinitis pigmentosa 42 (5), amyloidosis aa (5), cercarial dermatitis (5), alzheimer disease (4), pancreatic steatorrhea (4), avoidant personality disorder (4), colorectal cancer (4), juxtacortical osteosarcoma (4), peripheral osteosarcoma (3), lung cancer (2), ovarian cancer, somatic (1), meningioma, familial (1) * = Manually curated disease association

Comparative Toxicogenomics Database (CTD)


	The following chemicals interact with this gene D013749 Tetrachlorodibenzodioxin D000082 Acetaminophen D001564 Benzo(a)pyrene C400541 CA 074 methyl ester D019256 Cadmium Chloride D002110 Caffeine D002945 Cisplatin D002994 Clofibrate D004052 Diethylnitrosamine D004054 Diethylstilbestrol more ... click here to view the complete list

Common Gene Haplotype Alleles


	Press "+" in the title bar above to open this section.

RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)


	Highest median expression: 442.23 RPKM in Thyroid Total median expression: 4864.04 RPKM View in GTEx track of Genome Browser View at GTEx portal View GTEx Body Map

Microarray Expression Data


	Press "+" in the title bar above to open this section.

mRNA Secondary Structure of 3' and 5' UTRs

Region	Fold Energy	Bases	Energy/Base	Display As
5' UTR	-49.90	112	-0.446	Picture	PostScript	Text
3' UTR	-1050.10	2601	-0.404	Picture	PostScript	Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

Protein Domain and Structure Information

InterPro Domains: Graphical view of domain structure
IPR025661 - Pept_asp_AS
IPR000169 - Pept_cys_AS
IPR025660 - Pept_his_AS
IPR013128 - Peptidase_C1A
IPR000668 - Peptidase_C1A_C
IPR015643 - Peptidase_C1A_cathepsin-B
IPR012599 - Propeptide_C1A

Pfam Domains:
PF00112 - Papain family cysteine protease
PF08127 - Peptidase family C1 propeptide

SCOP Domains:
54001 - Cysteine proteinases

Protein Data Bank (PDB) 3-D Structure
MuPIT help

1CSB - X-ray

1GMY - X-ray MuPIT

1HUC - X-ray MuPIT

1PBH - X-ray MuPIT

2IPP - X-ray

2PBH - X-ray MuPIT

3AI8 - X-ray MuPIT

3CBJ - X-ray MuPIT

3CBK - X-ray MuPIT

3K9M - X-ray MuPIT

3PBH - X-ray MuPIT

ModBase Predicted Comparative 3D Structure on P07858


Front	Top	Side

The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

Orthologous Genes in Other Species

Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.

Mouse	Rat	Zebrafish	D. melanogaster	C. elegans	S. cerevisiae
No ortholog	No ortholog	No ortholog	No ortholog	No ortholog	No ortholog
Gene Details	Gene Details
Gene Sorter	Gene Sorter
	RGD

Gene Ontology (GO) Annotations with Structured Vocabulary


	Molecular Function: GO:0004197 cysteine-type endopeptidase activity GO:0004252 serine-type endopeptidase activity GO:0005515 protein binding GO:0005518 collagen binding GO:0008233 peptidase activity GO:0008234 cysteine-type peptidase activity GO:0016787 hydrolase activity GO:0043394 proteoglycan binding Biological Process: GO:0006508 proteolysis GO:0030574 collagen catabolic process GO:0030855 epithelial cell differentiation GO:0042981 regulation of apoptotic process GO:0043312 neutrophil degranulation GO:0046697 decidualization GO:0046718 viral entry into host cell GO:0050790 regulation of catalytic activity GO:0051603 proteolysis involved in cellular protein catabolic process GO:0097067 cellular response to thyroid hormone stimulus Cellular Component: GO:0005576 extracellular region GO:0005615 extracellular space GO:0005622 intracellular GO:0005730 nucleolus GO:0005764 lysosome GO:0036021 endolysosome lumen GO:0042470 melanosome GO:0043231 intracellular membrane-bounded organelle GO:0048471 perinuclear region of cytoplasm GO:0070062 extracellular exosome GO:1904813 ficolin-1-rich granule lumen

Descriptions from all associated GenBank mRNAs


	BC095408 - Homo sapiens cathepsin B, mRNA (cDNA clone MGC:110901 IMAGE:30334082), complete cds. LF384999 - JP 2014500723-A/192502: Polycomb-Associated Non-Coding RNAs. AK098296 - Homo sapiens cDNA FLJ40977 fis, clone UTERU2014167. AK097384 - Homo sapiens cDNA FLJ40065 fis, clone TESOP2000400, highly similar to CATHEPSIN B PRECURSOR (EC 3.4.22.1). AK128472 - Homo sapiens cDNA FLJ46616 fis, clone TLIVE2006733. JD558293 - Sequence 539317 from Patent EP1572962. JD564374 - Sequence 545398 from Patent EP1572962. DQ575022 - Homo sapiens piRNA piR-43134, complete sequence. JD119160 - Sequence 100184 from Patent EP1572962. DQ574107 - Homo sapiens piRNA piR-42219, complete sequence. BX648239 - Homo sapiens mRNA; cDNA DKFZp686H09108 (from clone DKFZp686H09108). BX647952 - Homo sapiens mRNA; cDNA DKFZp686H1851 (from clone DKFZp686H1851). L16510 - Homo sapiens cathepsin B mRNA, complete cds. E10341 - cDNA encoding human pro-cathepsin B. M14221 - Human cathepsin B proteinase mRNA, complete cds. AK092070 - Homo sapiens cDNA FLJ34751 fis, clone NESOP2000231, highly similar to CATHEPSIN B PRECURSOR (EC 3.4.22.1). AK130184 - Homo sapiens cDNA FLJ26674 fis, clone MPG03491, highly similar to Cathepsin B precursor (EC 3.4.22.1). AK075393 - Homo sapiens cDNA PSEC0083 fis, clone NT2RP2005506, highly similar to CATHEPSIN B PRECURSOR (EC 3.4.22.1). BX647765 - Homo sapiens mRNA; cDNA DKFZp686N0152 (from clone DKFZp686N0152). BC010240 - Homo sapiens cathepsin B, mRNA (cDNA clone MGC:17266 IMAGE:4154307), complete cds. JD039387 - Sequence 20411 from Patent EP1572962. L22569 - Homo sapiens cathepsin B mRNA, 3' UTR with a stem-loop structure providing mRNA stability. LF334773 - JP 2014500723-A/142276: Polycomb-Associated Non-Coding RNAs. JD290546 - Sequence 271570 from Patent EP1572962. JD340956 - Sequence 321980 from Patent EP1572962. LF334772 - JP 2014500723-A/142275: Polycomb-Associated Non-Coding RNAs. JD455720 - Sequence 436744 from Patent EP1572962. JD084509 - Sequence 65533 from Patent EP1572962. JD359097 - Sequence 340121 from Patent EP1572962. LF334771 - JP 2014500723-A/142274: Polycomb-Associated Non-Coding RNAs. JD148766 - Sequence 129790 from Patent EP1572962. JD026000 - Sequence 7024 from Patent EP1572962. JD036169 - Sequence 17193 from Patent EP1572962. LF334770 - JP 2014500723-A/142273: Polycomb-Associated Non-Coding RNAs. JD355553 - Sequence 336577 from Patent EP1572962. JD456214 - Sequence 437238 from Patent EP1572962. JD075571 - Sequence 56595 from Patent EP1572962. JD111456 - Sequence 92480 from Patent EP1572962. JD239183 - Sequence 220207 from Patent EP1572962. JD362605 - Sequence 343629 from Patent EP1572962. DL491830 - Novel nucleic acids. LF334768 - JP 2014500723-A/142271: Polycomb-Associated Non-Coding RNAs. DL490404 - Novel nucleic acids. AK296845 - Homo sapiens cDNA FLJ58073 complete cds, moderately similar to Cathepsin B precursor (EC 3.4.22.1). AK297687 - Homo sapiens cDNA FLJ59133 complete cds, highly similar to Cathepsin B precursor (EC 3.4.22.1). AK290239 - Homo sapiens cDNA FLJ78235 complete cds. M13230 - Human lysosomal proteinase cathepsin B mRNA, 3' end. GQ891351 - Homo sapiens clone HEL-S-124f epididymis secretory sperm binding protein mRNA, complete cds. AB385099 - Synthetic construct DNA, clone: pF1KB5441, Homo sapiens CTSB gene for cathepsin B precursor, complete cds, without stop codon, in Flexi system. LF334766 - JP 2014500723-A/142269: Polycomb-Associated Non-Coding RNAs. LF334765 - JP 2014500723-A/142268: Polycomb-Associated Non-Coding RNAs. Y18460 - Homo sapiens mRNA for cathepsin B, partial. LF334764 - JP 2014500723-A/142267: Polycomb-Associated Non-Coding RNAs. DQ591997 - Homo sapiens piRNA piR-59109, complete sequence. LF334763 - JP 2014500723-A/142266: Polycomb-Associated Non-Coding RNAs. LF334762 - JP 2014500723-A/142265: Polycomb-Associated Non-Coding RNAs. LF334761 - JP 2014500723-A/142264: Polycomb-Associated Non-Coding RNAs. DL491519 - Novel nucleic acids. DL490128 - Novel nucleic acids. LF334760 - JP 2014500723-A/142263: Polycomb-Associated Non-Coding RNAs. LF334758 - JP 2014500723-A/142261: Polycomb-Associated Non-Coding RNAs. LF334756 - JP 2014500723-A/142259: Polycomb-Associated Non-Coding RNAs. JD342047 - Sequence 323071 from Patent EP1572962. JD404762 - Sequence 385786 from Patent EP1572962. JD200526 - Sequence 181550 from Patent EP1572962. JD380211 - Sequence 361235 from Patent EP1572962. MA620576 - JP 2018138019-A/192502: Polycomb-Associated Non-Coding RNAs. MA570350 - JP 2018138019-A/142276: Polycomb-Associated Non-Coding RNAs. MA570349 - JP 2018138019-A/142275: Polycomb-Associated Non-Coding RNAs. MA570348 - JP 2018138019-A/142274: Polycomb-Associated Non-Coding RNAs. MA570347 - JP 2018138019-A/142273: Polycomb-Associated Non-Coding RNAs. MA570345 - JP 2018138019-A/142271: Polycomb-Associated Non-Coding RNAs. MA570343 - JP 2018138019-A/142269: Polycomb-Associated Non-Coding RNAs. MA570342 - JP 2018138019-A/142268: Polycomb-Associated Non-Coding RNAs. MA570341 - JP 2018138019-A/142267: Polycomb-Associated Non-Coding RNAs. MA570340 - JP 2018138019-A/142266: Polycomb-Associated Non-Coding RNAs. MA570339 - JP 2018138019-A/142265: Polycomb-Associated Non-Coding RNAs. MA570338 - JP 2018138019-A/142264: Polycomb-Associated Non-Coding RNAs. MA570337 - JP 2018138019-A/142263: Polycomb-Associated Non-Coding RNAs. MA570335 - JP 2018138019-A/142261: Polycomb-Associated Non-Coding RNAs. MA570333 - JP 2018138019-A/142259: Polycomb-Associated Non-Coding RNAs.

Biochemical and Signaling Pathways


	Reactome (by CSHL, EBI, and GO) Protein P07858 (Reactome details) participates in the following event(s): R-HSA-6800434 Exocytosis of ficolin-rich granule lumen proteins R-HSA-2130504 Cleavage of lip22 to lip10 R-HSA-2130349 Generation of CLIP from lip10 R-HSA-2130706 MHC class II antigen processing R-HSA-2168923 Collagen type XVIII endostatin release R-HSA-2213200 Release of endostatin-like peptides R-HSA-1678920 TLR processing at low pH R-HSA-6798695 Neutrophil degranulation R-HSA-2132295 MHC class II antigen presentation R-HSA-1442490 Collagen degradation R-HSA-2022090 Assembly of collagen fibrils and other multimeric structures R-HSA-168249 Innate Immune System R-HSA-1280218 Adaptive Immune System R-HSA-1679131 Trafficking and processing of endosomal TLR R-HSA-1474228 Degradation of the extracellular matrix R-HSA-1474290 Collagen formation R-HSA-168256 Immune System R-HSA-168898 Toll-Like Receptors Cascades R-HSA-1474244 Extracellular matrix organization

Other Names for This Gene


	Alternate Gene Symbols: B3KQR5, B3KRR5, CATB_HUMAN, CPSB, ENST00000353047.1, ENST00000353047.10, ENST00000353047.2, ENST00000353047.3, ENST00000353047.4, ENST00000353047.5, ENST00000353047.6, ENST00000353047.7, ENST00000353047.8, ENST00000353047.9, NM_001908, P07858, Q503A6, Q96D87, uc317yih.1, uc317yih.2 UCSC ID: ENST00000353047.11_12 RefSeq Accession: NM_001908.5 Protein: P07858 (aka CATB_HUMAN)

Gene Model Information


	Click here for a detailed description of the fields of the table above.

Methods, Credits, and Use Restrictions


	Click here for details on how this gene model was made and data restrictions if any.