EuRBPDB

Description

Ensembl ID: ENSG00000165688 (Gene tree)
Gene ID: 23203
Gene Symbol: PMPCA
Alias: KIAA0123|Alpha-MPP|INPP5E
Full Name: peptidase, mitochondrial processing alpha subunit
Gene Type: protein_coding
Species: Homo_sapiens
Status: putative
Strand: Plus strand
Length: 13,192 bases
Position: chr9:136,410,570-136,423,761
Accession: 18667
RBP type: non-canonical RBP
Summary: The protein encoded by this gene is found in the mitochondrion, where it represents the alpha subunit of a proteolytic heterodimer. This heterodimer is responsible for cleaving the transit peptide from nuclear-encoded mitochondrial proteins. Defects in this gene are a cause of spinocerebellar ataxia, autosomal recessive 2. [provided by RefSeq, Mar 2016]

Expression

Transcripts

Transcript ID	Name	Length	RefSeq ID	Protein ID	Length	RefSeq ID	UniportKB ID
ENST00000444897	PMPCA-204	2316	XM_011518417	ENSP00000408393	271 (aa)	XP_011516719	Q5SXN9
ENST00000371720	PMPCA-202	713	-	-	- (aa)	-	-
ENST00000399219	PMPCA-203	1987	XM_017014543	ENSP00000416702	394 (aa)	XP_016870032	Q10713
ENST00000371717	PMPCA-201	2174	XM_005266059	ENSP00000360782	525 (aa)	XP_005266116	Q10713
ENST00000462616	PMPCA-205	3341	-	-	- (aa)	-	-
ENST00000614402	PMPCA-208	505	-	-	- (aa)	-	-
ENST00000612553	PMPCA-207	1174	-	-	- (aa)	-	-
ENST00000620412	PMPCA-210	590	-	-	- (aa)	-	-
ENST00000610649	PMPCA-206	756	-	-	- (aa)	-	-
ENST00000620895	PMPCA-211	583	-	-	- (aa)	-	-
ENST00000622209	PMPCA-212	1013	-	-	- (aa)	-	-
ENST00000619192	PMPCA-209	416	-	-	- (aa)	-	-

Gene Model

GWAS

ensgID	SNP	Chromosome	Position	SNP-risk	Trait	PubmedID	95% CI	Or or BEAT	EFO ID
ENSG00000165688	rs11145974	9	136422292	?	White blood cell count	30595370			EFO_0004308
ENSG00000165688	rs12380242	9	136415735	C	Chronotype	30696823		1.0208136	EFO_0008328

Protein-Protein Interaction (PPI)

* RBP PPI network refers to all genes directly bind to RBP

Orthologs identified by RBPome

Ensembl ID	Gene Symbol	Coverage	Identiy	Ortholog	Gene Symbol	Coverage	Identiy	Species
ENSG00000165688	PMPCA	92	52.653	FBgn0033235	CG8728	87	52.653	Drosophila_melanogaster

Gene Ontology

Go ID	Go_term	PubmedID	Evidence	Category
GO:0004175	endopeptidase activity	21873635.	IBA	Function
GO:0004222	metalloendopeptidase activity	10942759.	TAS	Function
GO:0005615	extracellular space	22664934.	HDA	Component
GO:0005739	mitochondrion	21873635.	IBA	Component
GO:0005739	mitochondrion	-	IDA	Component
GO:0005743	mitochondrial inner membrane	21873635.	IBA	Component
GO:0005743	mitochondrial inner membrane	25808372.	IDA	Component
GO:0005743	mitochondrial inner membrane	10942759.	TAS	Component
GO:0006508	proteolysis	10942759.	TAS	Process
GO:0006627	protein processing involved in protein targeting to mitochondrion	21873635.	IBA	Process
GO:0006627	protein processing involved in protein targeting to mitochondrion	25808372.	IMP	Process
GO:0006851	mitochondrial calcium ion transmembrane transport	-	TAS	Process
GO:0017087	mitochondrial processing peptidase complex	21873635.	IBA	Component
GO:0046872	metal ion binding	-	IEA	Function