Format

Send to:

Choose Destination

CTSH cathepsin H [ Homo sapiens (human) ]

Gene ID: 1512, updated on 3-Jun-2018
Official Symbol
CTSHprovided by HGNC
Official Full Name
cathepsin Hprovided by HGNC
Primary source
HGNC:HGNC:2535
See related
Ensembl:ENSG00000103811 MIM:116820; Vega:OTTHUMG00000144171
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
ACC4; ACC5; CPSB; ACC-4; ACC-5
Summary
The protein encoded by this gene is a lysosomal cysteine proteinase important in the overall degradation of lysosomal proteins. It is composed of a dimer of disulfide-linked heavy and light chains, both produced from a single protein precursor. The encoded protein, which belongs to the peptidase C1 protein family, can act both as an aminopeptidase and as an endopeptidase. Increased expression of this gene has been correlated with malignant progression of prostate tumors. Alternate splicing of this gene results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016]
Expression
Broad expression in lung (RPKM 144.1), kidney (RPKM 97.7) and 24 other tissues See more
Orthologs
See CTSH in Genome Data Viewer
Location:
15q25.1
Exon count:
14
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 15 NC_000015.10 (78921750..78945098, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (79214092..79237436, complement)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene mortality factor 4 like 1 Neighboring gene RNA, U6 small nuclear 415, pseudogene Neighboring gene Ras protein specific guanine nucleotide releasing factor 1 Neighboring gene uncharacterized LOC100129540 Neighboring gene uncharacterized LOC105370917

  • 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 Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NHGRI GWAS Catalog

Description
Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes.
NHGRI GWA Catalog
Genome-wide association study on bipolar disorder in the Bulgarian population.
NHGRI GWA Catalog
Meta-analysis of genome-wide association study data identifies additional type 1 diabetes risk loci.
NHGRI GWA Catalog

Protein interactions

Protein Gene Interaction Pubs
Vpr vpr A stable-isotope labeling by amino acids in cell culture coupled with mass spectrometry-based proteomics identifies upregulation of cathepsin H (CTSH) expression by HIV-1 Vpr in Vpr transduced macrophages PubMed

Go to the HIV-1, Human Interaction Database

  • Adaptive Immune System, organism-specific biosystem (from REACTOME)
    Adaptive Immune System, organism-specific biosystemAdaptive immunity refers to antigen-specific immune response efficiently involved in clearing the pathogens. The adaptive immune system is comprised of B and T lymphocytes that express receptors with...
  • Apoptosis, organism-specific biosystem (from KEGG)
    Apoptosis, organism-specific biosystemApoptosis is a genetically programmed process for the elimination of damaged or redundant cells by activation of caspases (aspartate-specific cysteine proteases). The onset of apoptosis is controlled...
  • Apoptosis, conserved biosystem (from KEGG)
    Apoptosis, conserved biosystemApoptosis is a genetically programmed process for the elimination of damaged or redundant cells by activation of caspases (aspartate-specific cysteine proteases). The onset of apoptosis is controlled...
  • Immune System, organism-specific biosystem (from REACTOME)
    Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
  • Innate Immune System, organism-specific biosystem (from REACTOME)
    Innate Immune System, organism-specific biosystemInnate immunity encompases the nonspecific part of immunity tha are part of an individual's natural biologic makeup
  • Lysosome, organism-specific biosystem (from KEGG)
    Lysosome, organism-specific biosystemLysosomes are membrane-delimited organelles in animal cells serving as the cell's main digestive compartment to which all sorts of macromolecules are delivered for degradation. They contain more than...
  • Lysosome, conserved biosystem (from KEGG)
    Lysosome, conserved biosystemLysosomes are membrane-delimited organelles in animal cells serving as the cell's main digestive compartment to which all sorts of macromolecules are delivered for degradation. They contain more than...
  • MHC class II antigen presentation, organism-specific biosystem (from REACTOME)
    MHC class II antigen presentation, organism-specific biosystemAntigen presenting cells (APCs) such as B cells, dendritic cells (DCs) and monocytes/macrophages express major histocompatibility complex class II molecules (MHC II) at their surface and present exog...
  • Metabolism of proteins, organism-specific biosystem (from REACTOME)
    Metabolism of proteins, organism-specific biosystemProtein metabolism comprises the pathways of translation, post-translational modification and protein folding.
  • Neutrophil degranulation, organism-specific biosystem (from REACTOME)
    Neutrophil degranulation, organism-specific biosystemNeutrophils are the most abundant leukocytes (white blood cells), indispensable in defending the body against invading microorganisms. In response to infection, neutrophils leave the circulation and ...
  • Surfactant metabolism, organism-specific biosystem (from REACTOME)
    Surfactant metabolism, organism-specific biosystemThe alveolar region of the lung creates an extensive epithelial surface that mediates the transfer of oxygen and carbon dioxide required for respiration after birth. Type I epithelial cells form the ...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • MGC1519, DKFZp686B24257

Gene Ontology Provided by GOA

Function Evidence Code Pubs
HLA-A specific activating MHC class I receptor activity IDA
Inferred from Direct Assay
more info
PubMed 
aminopeptidase activity IDA
Inferred from Direct Assay
more info
PubMed 
cysteine-type endopeptidase activator activity involved in apoptotic process 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 TAS
Traceable Author Statement
more info
PubMed 
cysteine-type peptidase activity IDA
Inferred from Direct Assay
more info
PubMed 
endopeptidase activity IDA
Inferred from Direct Assay
more info
PubMed 
peptidase activity IDA
Inferred from Direct Assay
more info
PubMed 
peptidase activity TAS
Traceable Author Statement
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
serine-type endopeptidase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
thyroid hormone binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
ERK1 and ERK2 cascade IDA
Inferred from Direct Assay
more info
PubMed 
T cell mediated cytotoxicity ISS
Inferred from Sequence or Structural Similarity
more info
 
activation of cysteine-type endopeptidase activity involved in apoptotic process IEA
Inferred from Electronic Annotation
more info
 
adaptive immune response IEP
Inferred from Expression Pattern
more info
PubMed 
antigen processing and presentation TAS
Traceable Author Statement
more info
PubMed 
apoptotic process IEA
Inferred from Electronic Annotation
more info
 
bradykinin catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
cellular protein metabolic process TAS
Traceable Author Statement
more info
 
cellular response to thyroid hormone stimulus IEP
Inferred from Expression Pattern
more info
PubMed 
dichotomous subdivision of terminal units involved in lung branching ISS
Inferred from Sequence or Structural Similarity
more info
 
immune response-regulating signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
membrane protein proteolysis IDA
Inferred from Direct Assay
more info
PubMed 
metanephros development ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of apoptotic process ISS
Inferred from Sequence or Structural Similarity
more info
 
neuropeptide catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
neutrophil degranulation TAS
Traceable Author Statement
more info
 
positive regulation of angiogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of cell migration IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of cell proliferation ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of epithelial cell migration ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of gene expression IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of peptidase activity IDA
Inferred from Direct Assay
more info
PubMed 
protein destabilization IMP
Inferred from Mutant Phenotype
more info
PubMed 
proteolysis IDA
Inferred from Direct Assay
more info
PubMed 
proteolysis TAS
Traceable Author Statement
more info
PubMed 
proteolysis involved in cellular protein catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
response to retinoic acid ISS
Inferred from Sequence or Structural Similarity
more info
 
surfactant homeostasis IDA
Inferred from Direct Assay
more info
PubMed 
zymogen activation IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
alveolar lamellar body IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasmic ribonucleoprotein granule IDA
Inferred from Direct Assay
more info
 
cytosol IDA
Inferred from Direct Assay
more info
PubMed 
extracellular exosome HDA PubMed 
extracellular region TAS
Traceable Author Statement
more info
 
extracellular space HDA PubMed 
extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
extracellular space IDA
Inferred from Direct Assay
more info
PubMed 
ficolin-1-rich granule lumen TAS
Traceable Author Statement
more info
 
intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 
lysosome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
lysosome IDA
Inferred from Direct Assay
more info
PubMed 
multivesicular body lumen TAS
Traceable Author Statement
more info
 
secretory granule lumen TAS
Traceable Author Statement
more info
 
tertiary granule lumen TAS
Traceable Author Statement
more info
 
Preferred Names
pro-cathepsin H
Names
N-benzoylarginine-beta-naphthylamide hydrolase
aleurain
cathepsin B3
cathepsin BA
NP_001306066.1
NP_004381.2
XP_005254238.1
XP_016877440.1
XP_016877441.1
XP_024305620.1
XP_024305621.1
XP_024305622.1
XP_024305623.1

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

  1. NG_009614.1 RefSeqGene

    Range
    4981..28329
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001319137.1NP_001306066.1  pro-cathepsin H isoform c

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region and initiates translation at an alternate start codon, compared to variant 1. It encodes isoform c which is shorter and has a distinct N-terminus, compared to isoform a.
    Source sequence(s)
    AC011944, AI057198, AK309491, BM849425
    Conserved Domains (1) summary
    pfam00112
    Location:32198
    Peptidase_C1; Papain family cysteine protease
  2. NM_004390.4NP_004381.2  pro-cathepsin H isoform a preproprotein

    See identical proteins and their annotated locations for NP_004381.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the shorter transcript and encodes the longer isoform (a).
    Source sequence(s)
    AC011944, AF426247, AI057198, BC018821
    Consensus CDS
    CCDS10308.1
    UniProtKB/Swiss-Prot
    P09668
    Related
    ENSP00000220166.5, OTTHUMP00000185564, ENST00000220166.9, OTTHUMT00000291370
    Conserved Domains (2) summary
    pfam00112
    Location:117332
    Peptidase_C1; Papain family cysteine protease
    pfam08246
    Location:3590
    Inhibitor_I29; Cathepsin propeptide inhibitor domain (I29)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p12 Primary Assembly

    Range
    78921750..78945098 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005254181.2XP_005254238.1  pro-cathepsin H isoform X2

    See identical proteins and their annotated locations for XP_005254238.1

    Conserved Domains (2) summary
    pfam00112
    Location:79294
    Peptidase_C1; Papain family cysteine protease
    pfam08246
    Location:152
    Inhibitor_I29; Cathepsin propeptide inhibitor domain (I29)
  2. XM_024449852.1XP_024305620.1  pro-cathepsin H isoform X3

    Conserved Domains (1) summary
    pfam00112
    Location:54220
    Peptidase_C1; Papain family cysteine protease
  3. XM_017021951.1XP_016877440.1  pro-cathepsin H isoform X1

  4. XM_017021952.2XP_016877441.1  pro-cathepsin H isoform X2

    Conserved Domains (2) summary
    pfam00112
    Location:79294
    Peptidase_C1; Papain family cysteine protease
    pfam08246
    Location:152
    Inhibitor_I29; Cathepsin propeptide inhibitor domain (I29)
  5. XM_024449854.1XP_024305622.1  pro-cathepsin H isoform X4

    Conserved Domains (1) summary
    pfam00112
    Location:32198
    Peptidase_C1; Papain family cysteine protease
  6. XM_024449855.1XP_024305623.1  pro-cathepsin H isoform X4

    Conserved Domains (1) summary
    pfam00112
    Location:32198
    Peptidase_C1; Papain family cysteine protease
  7. XM_024449853.1XP_024305621.1  pro-cathepsin H isoform X3

    Conserved Domains (1) summary
    pfam00112
    Location:54220
    Peptidase_C1; Papain family cysteine protease

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_148979.2: Suppressed sequence

    Description
    NM_148979.2: This RefSeq was permanently suppressed because it represents a poorly supported variant with non-consensus splice sites.
Support Center