PMPCA (GeneID: 23203) | Homo sapiens
Description: peptidase, mitochondrial processing alpha subunit [Source:HGNC Symbol;Acc:HGNC:18667]
Synonyms: SCAR2, Alpha-MPP, P-55, INPP5E
Other ID(s): HGNC:18667, ENSG00000165688
Protein Accession Numbers: ENST00000371717, NP_001269873, ENST00000371720, NP_055975, ENST00000444897, ENST00000371717.3, NP_001269875, ENST00000399219
Statistics: ClinVar(42) COSMIC(145) PTM(23)
ClinVar Pathogenicity of Variations help

∙ 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.
ENST00000371717 You are here now! ENST00000371720 ENST00000399219 ENST00000444897 NP_001269873 NP_001269875 NP_055975 You are here now!


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
PF00675 Peptidase_M16 Insulinase (Peptidase family M16) 77-227 CL0094 Peptidase_ME Homo sapiens
PF05193 Peptidase_M16_C Peptidase M16 inactive domain 232-431 CL0094 Peptidase_ME Homo sapiens

view_listList of the diseases from DisGeNET
Disease Name filter_list Disease Category filter_list DSI* filter_list DPI** filter_list
Ataxias, Hereditary Nervous System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.727 0.379
Cerebellar Hypoplasia Nervous System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Mental Disorders ; 0.727 0.379
Mitochondrial Diseases Nutritional and Metabolic Diseases ; 0.727 0.379
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 2 Nervous System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.727 0.379
NO RESULT FOUND
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