Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
1512
Gene name Gene Name - the full gene name approved by the HGNC.
Cathepsin H
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CTSH
Synonyms (NCBI Gene) Gene synonyms aliases
ACC-4, ACC-5, ACC4, ACC5, CPSB
Chromosome Chromosome number
15
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
15q25.1
Summary Summary of gene provided in NCBI Entrez Gene.
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 encode
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT022220 hsa-miR-124-3p Microarray 18668037
MIRT915920 hsa-miR-1178 CLIP-seq
MIRT915921 hsa-miR-1285 CLIP-seq
MIRT915922 hsa-miR-2114 CLIP-seq
MIRT915923 hsa-miR-299-3p CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001520 Component Outer dense fiber IEA
GO:0001656 Process Metanephros development IEA
GO:0001656 Process Metanephros development ISS
GO:0001669 Component Acrosomal vesicle IEA
GO:0001913 Process T cell mediated cytotoxicity IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
116820 2535 ENSG00000103811
Protein
UniProt ID P09668
Protein name Pro-cathepsin H [Cleaved into: Cathepsin H mini chain; Cathepsin H (EC 3.4.22.16); Cathepsin H heavy chain; Cathepsin H light chain]
Protein function Important for the overall degradation of proteins in lysosomes.
PDB 6CZK , 6CZS
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF08246 Inhibitor_I29 35 90 Cathepsin propeptide inhibitor domain (I29) Domain
PF00112 Peptidase_C1 116 332 Papain family cysteine protease Domain
Sequence
Sequence length 335
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Lysosome
Apoptosis
  MHC class II antigen presentation
Surfactant metabolism
Neutrophil degranulation
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Bipolar Disorder Bipolar disorder N/A N/A GWAS
Carcinoma Basal cell carcinoma N/A N/A GWAS
Celiac disease Celiac disease N/A N/A GWAS
Diabetes Type 1 diabetes N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Abdominal Abscess Associate 34238216
Adenocarcinoma of Lung Associate 37507593
Alzheimer Disease Associate 32413284, 34937778, 37925455, 38527854
Alzheimer Disease Stimulate 39740768
Amyotrophic Lateral Sclerosis Associate 32792518
Aneurysm Associate 18155003
Aortic Aneurysm Abdominal Associate 11436088
Aortic Aneurysm Familial Abdominal 1 Associate 18155003
Autoimmune Diseases Associate 32724101
Bipolar Disorder Associate 21771265