CTSH (GeneID: 1512) | Homo sapiens
Description: cathepsin H [Source:HGNC Symbol;Acc:HGNC:2535]
Synonyms: ACC5, ACC-4, ACC4, CPSB, ACC-5
Other ID(s): HGNC:2535, ENSG00000103811
Protein Accession Numbers: NP_004381, ENST00000529861, ENST00000220166.5, NP_001306066, ENST00000528741, ENST00000220166, ENST00000533777, ENST00000525807
Statistics: gnomAD(86)
gnomAD Variants By Annotation

∙ Please click the name of species for the protein accession number used in the alignment.
∙ A p letter used as a pointer to positions of post translational modifications in human.
∙ Protein domains illustrated above belong to Homo sapiens (Human).
∙ ClinVar stacked bar chart represents whole protein isoforms of the gene. Please, check the other protein isoforms of the gene below.
∙ If more than one transcripts below are active (with blue background color), it means all the active transcripts have the same sequence.
ENST00000220166 ENST00000525807 ENST00000528741 ENST00000529861 ENST00000533777 NP_001306066 NP_004381


import_contactsClinVar Data
Variation ID filter_list Allele ID filter_list RS Number filter_list Variant Type filter_list Record filter_list Alteration filter_list Clinicial Sig. filter_list Last Update filter_list Phenotypes filter_list Cytogenetic filter_list Review Status filter_list RCV Acc.N. filter_list

healinggnomAD
Variant ID filter_list Transcript ID filter_list Alteration filter_list Annotation filter_list Allele C. filter_list Allele N. filter_list Allele F. filter_list rsNumber filter_list Flagsfilter_list Filter filter_list

placePost-translational Modifications (PTMs)
Gene Name filter_list ACC ID filter_list PTM Type filter_list Position filter_list Mod-rsd filter_list Site +/-7 Aa filter_list Mw_kd filter_list Site grpID filter_list

blur_onCatalogue of Somatic Mutations in Cancer (COSMIC)
Gene Name filter_list Transcript ID filter_list Sample name filter_list Primary Site filter_list Primary Histology filter_list Mutation ID filter_list Mutation CDS filter_list Mutation Aa filter_list Mutation Desc. filter_list FATHMM Prediction filter_list FATHMM Score filter_list Mutation Somatic Status filter_list PUBMED PMID filter_list Tumor Origin filter_list Position filter_list

chrome_reader_modedbSNP
Gene ID filter_list Transcript ID filter_list Consequence filter_list Position filter_list HGVSp filter_list Impact filter_list

format_align_centerProtein Domains (PFAM)
Pfam Domain filter_list Domain Name filter_list Description filter_list Positions filter_list Clan filter_list Clan Name filter_list Organism filter_list
NO RESULT FOUND
PF00112 Peptidase_C1 Papain family cysteine protease 114-330 CL0125 Peptidase_CA Mus musculus
PF08246 Inhibitor_I29 Cathepsin propeptide inhibitor domain (I29) 33-88 Mus musculus

view_listList of the diseases from DisGeNET
Disease Name filter_list Disease Category filter_list DSI* filter_list DPI** filter_list
Diabetes Mellitus, Insulin-Dependent Nutritional and Metabolic Diseases ; Endocrine System Diseases ; Immune System Diseases ; 0.663 0.517
Leukemia, Myelocytic, Acute Neoplasms ; 0.663 0.517
Acute Myeloid Leukemia, M1 Neoplasms ; 0.663 0.517
Narcolepsy Nervous System Diseases ; Mental Disorders ; 0.663 0.517
Diabetes, Autoimmune Nutritional and Metabolic Diseases ; Endocrine System Diseases ; Immune System Diseases ; 0.663 0.517
Brittle diabetes Nutritional and Metabolic Diseases ; Endocrine System Diseases ; Immune System Diseases ; 0.663 0.517
Narcolepsy-Cataplexy Syndrome Nervous System Diseases ; Mental Disorders ; 0.663 0.517
Colorectal Cancer Neoplasms ; Digestive System Diseases ; 0.663 0.517
Acute Myeloid Leukemia (AML-M2) Neoplasms ; 0.663 0.517
Diabetes Mellitus, Ketosis-Prone Nutritional and Metabolic Diseases ; Endocrine System Diseases ; Immune System Diseases ; 0.663 0.517
NO RESULT FOUND
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