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CTSL cathepsin L [ Homo sapiens (human) ]

Gene ID: 1514, updated on 7-Jun-2020

Summary

Official Symbol
CTSLprovided by HGNC
Official Full Name
cathepsin Lprovided by HGNC
Primary source
HGNC:HGNC:2537
See related
Ensembl:ENSG00000135047 MIM:116880
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
MEP; CATL; CTSL1
Summary
The protein encoded by this gene is a lysosomal cysteine proteinase that plays a major role in intracellular protein catabolism. Its substrates include collagen and elastin, as well as alpha-1 protease inhibitor, a major controlling element of neutrophil elastase activity. The encoded protein has been implicated in several pathologic processes, including myofibril necrosis in myopathies and in myocardial ischemia, and in the renal tubular response to proteinuria. This protein, which is a member of the peptidase C1 family, is a dimer composed of disulfide-linked heavy and light chains, both produced from a single protein precursor. Additionally, this protein may be necessary for entry of SARS-CoV-2 (COVID-19 virus) into the cell. [provided by RefSeq, May 2020]
Expression
Broad expression in placenta (RPKM 162.6), kidney (RPKM 60.4) and 23 other tissues See more
Orthologs

Genomic context

See CTSL in Genome Data Viewer
Location:
9q21.33
Exon count:
9
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 9 NC_000009.12 (87726119..87731469)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (90340974..90346384)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene death associated protein kinase 1 Neighboring gene ribosomal protein S29 pseudogene 18 Neighboring gene DAPK1 intronic transcript 1 Neighboring gene CTSL promoter region Neighboring gene CTSL 3' regulatory element Neighboring gene eukaryotic translation initiation factor 3 subunit J pseudogene Neighboring gene cathepsin L family member 3, pseudogene

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp120 env Cathepsin L cleaves HIV-1 gp120 at positions A3-L4 (HSV-1gD domain), K327-G328 (V3 domain), and G431-K432 and Y435-A436 (C4 domain), which is important for antigen processing and presentation PubMed

Go to the HIV-1, Human Interaction Database

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ31037

Gene Ontology Provided by GOA

Function Evidence Code Pubs
collagen binding IDA
Inferred from Direct Assay
more info
PubMed 
cysteine-type endopeptidase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cysteine-type endopeptidase activity IDA
Inferred from Direct Assay
more info
PubMed 
cysteine-type endopeptidase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
cysteine-type peptidase activity IDA
Inferred from Direct Assay
more info
PubMed 
fibronectin binding IPI
Inferred from Physical Interaction
more info
PubMed 
histone binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
proteoglycan binding IPI
Inferred from Physical Interaction
more info
PubMed 
serpin family protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
adaptive immune response IEP
Inferred from Expression Pattern
more info
PubMed 
antigen processing and presentation TAS
Traceable Author Statement
more info
PubMed 
antigen processing and presentation of exogenous peptide antigen via MHC class II TAS
Traceable Author Statement
more info
 
cellular response to thyroid hormone stimulus IEP
Inferred from Expression Pattern
more info
PubMed 
collagen catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
collagen catabolic process TAS
Traceable Author Statement
more info
 
extracellular matrix disassembly TAS
Traceable Author Statement
more info
 
immune response IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
macrophage apoptotic process NAS
Non-traceable Author Statement
more info
PubMed 
proteolysis IDA
Inferred from Direct Assay
more info
PubMed 
proteolysis involved in cellular protein catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
proteolysis involved in cellular protein catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
regulation of keratinocyte differentiation TAS
Traceable Author Statement
more info
 
toll-like receptor signaling pathway TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
apical plasma membrane IEA
Inferred from Electronic Annotation
more info
 
collagen-containing extracellular matrix HDA PubMed 
endolysosome lumen TAS
Traceable Author Statement
more info
 
extracellular exosome HDA PubMed 
extracellular region NAS
Non-traceable Author Statement
more info
PubMed 
extracellular region TAS
Traceable Author Statement
more info
 
extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
extracellular space IDA
Inferred from Direct Assay
more info
PubMed 
lysosomal lumen TAS
Traceable Author Statement
more info
 
lysosome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
lysosome IDA
Inferred from Direct Assay
more info
PubMed 
multivesicular body IDA
Inferred from Direct Assay
more info
PubMed 
nucleus TAS
Traceable Author Statement
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
cathepsin L1
Names
major excreted protein
NP_001244900.1
NP_001244901.1
NP_001244902.1
NP_001369686.1
NP_001369687.1
NP_001369695.1
NP_001369696.1
NP_001369697.1
NP_001903.1
NP_666023.1

NCBI Reference Sequences (RefSeq)

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.

mRNA and Protein(s)

  1. NM_001257971.2NP_001244900.1  cathepsin L1 isoform 1 preproprotein

    See identical proteins and their annotated locations for NP_001244900.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) has an alternate splice site in the 5' UTR, compared to variant 1. Variants 1-4 encode the same isoform (1).
    Source sequence(s)
    BM680778, BX647435, CB963086
    Consensus CDS
    CCDS6675.1
    UniProtKB/Swiss-Prot
    P07711
    UniProtKB/TrEMBL
    A0A024R276
    Conserved Domains (2) summary
    smart00848
    Location:2987
    Inhibitor_I29; Cathepsin propeptide inhibitor domain (I29)
    pfam00112
    Location:114332
    Peptidase_C1; Papain family cysteine protease
  2. NM_001257972.2NP_001244901.1  cathepsin L1 isoform 1 preproprotein

    See identical proteins and their annotated locations for NP_001244901.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) has an alternate splice site in the 5' UTR, compared to variant 1. Variants 1-4 encode the same isoform (1).
    Source sequence(s)
    BM680778, BX647102, CB963086
    Consensus CDS
    CCDS6675.1
    UniProtKB/Swiss-Prot
    P07711
    UniProtKB/TrEMBL
    A0A024R276
    Conserved Domains (2) summary
    smart00848
    Location:2987
    Inhibitor_I29; Cathepsin propeptide inhibitor domain (I29)
    pfam00112
    Location:114332
    Peptidase_C1; Papain family cysteine protease
  3. NM_001257973.2NP_001244902.1  cathepsin L1 isoform 2

    See identical proteins and their annotated locations for NP_001244902.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream AUG, compared to variant 1. The resulting isoform (2) has a shorter N-terminus, compared to isoform 1.
    Source sequence(s)
    AF217997, BM680778, CB963086, DN993009
    UniProtKB/TrEMBL
    Q9HBQ7
    Related
    ENST00000495822.1
    Conserved Domains (1) summary
    pfam00112
    Location:1150
    Peptidase_C1; Papain family cysteine protease
  4. NM_001382757.1NP_001369686.1  cathepsin L1 isoform 1 precursor

    Status: REVIEWED

    Source sequence(s)
    AL160279
  5. NM_001382758.1NP_001369687.1  cathepsin L1 isoform 3

    Status: REVIEWED

    Source sequence(s)
    AL160279
  6. NM_001382766.1NP_001369695.1  cathepsin L1 isoform 4 precursor

    Status: REVIEWED

    Source sequence(s)
    AL160279
  7. NM_001382767.1NP_001369696.1  cathepsin L1 isoform 4 precursor

    Status: REVIEWED

    Source sequence(s)
    AL160279
  8. NM_001382768.1NP_001369697.1  cathepsin L1 isoform 4 precursor

    Status: REVIEWED

    Source sequence(s)
    AL160279
  9. NM_001912.5NP_001903.1  cathepsin L1 isoform 1 preproprotein

    See identical proteins and their annotated locations for NP_001903.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript. Variants 1-4 encode the same isoform (1).
    Source sequence(s)
    AL160279, AL832167, BM680778, DN993009
    Consensus CDS
    CCDS6675.1
    UniProtKB/Swiss-Prot
    P07711
    UniProtKB/TrEMBL
    A0A024R276
    Related
    ENSP00000345344.5, ENST00000343150.10
    Conserved Domains (2) summary
    smart00848
    Location:2987
    Inhibitor_I29; Cathepsin propeptide inhibitor domain (I29)
    pfam00112
    Location:114332
    Peptidase_C1; Papain family cysteine protease
  10. NM_145918.3NP_666023.1  cathepsin L1 isoform 1 preproprotein

    See identical proteins and their annotated locations for NP_666023.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) has an alternate splice site in the 5' UTR, compared to variant 1. Variants 1-4 encode the same isoform (1).
    Source sequence(s)
    AL832167, AW270438
    Consensus CDS
    CCDS6675.1
    UniProtKB/Swiss-Prot
    P07711
    UniProtKB/TrEMBL
    A0A024R276
    Related
    ENSP00000365061.5, ENST00000340342.10
    Conserved Domains (2) summary
    smart00848
    Location:2987
    Inhibitor_I29; Cathepsin propeptide inhibitor domain (I29)
    pfam00112
    Location:114332
    Peptidase_C1; Papain family cysteine protease

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p13 Primary Assembly

    Range
    87726119..87731469
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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