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Protein

Mitochondrial-processing peptidase subunit alpha

Gene

PMPCA

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Substrate recognition and binding subunit of the essential mitochondrial processing protease (MPP), which is required for maturation of the majority of mitochondrial precursor proteins (PubMed:25808372). Most MPP cleavage sites follow an arginine at position -2 (By similarity).By similarity1 Publication

Caution

Does not seem to have a protease activity as it lack the zinc-binding site.Curated

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

  • metal ion binding Source: InterPro
  • metalloendopeptidase activity Source: GO_Central

GO - Biological processi

  • mitochondrial calcium ion transmembrane transport Source: Reactome
  • protein processing involved in protein targeting to mitochondrion Source: UniProtKB
  • proteolysis Source: UniProtKB

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-1268020 Mitochondrial protein import
R-HSA-8949664 Processing of SMDT1

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...
SignaLinki
Q10713

Protein family/group databases

MEROPS protease database

More...
MEROPSi
M16.P01

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Mitochondrial-processing peptidase subunit alpha
Alternative name(s):
Alpha-MPP
P-55
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:PMPCA
Synonyms:INPP5E, KIAA0123, MPPA
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 9

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000165688.11

Human Gene Nomenclature Database

More...
HGNCi
HGNC:18667 PMPCA

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
613036 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q10713

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Cellular componenti

Membrane, Mitochondrion, Mitochondrion inner membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Spinocerebellar ataxia, autosomal recessive, 2 (SCAR2)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR2 is characterized by onset of impaired motor development and ataxic gait in early childhood. Additional features often include loss of fine motor skills, dysarthria, nystagmus, cerebellar signs, and delayed cognitive development with intellectual disability.
See also OMIM:213200
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_07623796S → L in SCAR2. 1 PublicationCorresponds to variant dbSNP:rs869025292EnsemblClinVar.1
Natural variantiVAR_076238256V → M in SCAR2. 1 PublicationCorresponds to variant dbSNP:rs746549806EnsemblClinVar.1
Natural variantiVAR_076239377A → T in SCAR2; impairs cleavage of FXN; does not impair cleavage of DLD, NFS1 and PRDX3. 1 PublicationCorresponds to variant dbSNP:rs753611141EnsemblClinVar.1
Natural variantiVAR_076240515G → R in SCAR2. 1 PublicationCorresponds to variant dbSNP:rs869025293EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Mental retardation, Neurodegeneration

Organism-specific databases

DisGeNET

More...
DisGeNETi
23203

MalaCards human disease database

More...
MalaCardsi
PMPCA
MIMi213200 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000165688

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
1170 Autosomal recessive cerebelloparenchymal disorder type 3

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA38629

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
PMPCA

Domain mapping of disease mutations (DMDM)

More...
DMDMi
29840846

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a transit peptide.<p><a href='/help/transit' target='_top'>More...</a></p>Transit peptidei1 – 33MitochondrionCombined sourcesAdd BLAST33
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000002676734 – 525Mitochondrial-processing peptidase subunit alphaAdd BLAST492

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei64N6-succinyllysineBy similarity1
Modified residuei299N6-acetyllysineCombined sources1

Keywords - PTMi

Acetylation

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q10713

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q10713

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q10713

PeptideAtlas

More...
PeptideAtlasi
Q10713

PRoteomics IDEntifications database

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PRIDEi
Q10713

ProteomicsDB human proteome resource

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ProteomicsDBi
58867

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q10713

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q10713

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Ubiquitously expressed with highest expression in fetal tissues and adult brain, cerebellum and cerebellar vermis.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000165688 Expressed in 219 organ(s), highest expression level in heart left ventricle

CleanEx database of gene expression profiles

More...
CleanExi
HS_INPP5E
HS_PMPCA

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q10713 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q10713 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA021648
HPA063735

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Heterodimer of PMPCA (alpha) and PMPCB (beta) subunits, forming the mitochondrial processing protease (MPP) in which PMPCA is involved in substrate recognition and binding and PMPCB is the catalytic subunit.By similarity

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
116811, 68 interactors

Protein interaction database and analysis system

More...
IntActi
Q10713, 33 interactors

Molecular INTeraction database

More...
MINTi
Q10713

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000360782

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...
ProteinModelPortali
Q10713

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...
SMRi
Q10713

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the peptidase M16 family.Curated

Keywords - Domaini

Transit peptide

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG2067 Eukaryota
COG0612 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000156724

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000206848

The HOVERGEN Database of Homologous Vertebrate Genes

More...
HOVERGENi
HBG106890

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q10713

KEGG Orthology (KO)

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KOi
K01412

Identification of Orthologs from Complete Genome Data

More...
OMAi
RESMMYQ

Database of Orthologous Groups

More...
OrthoDBi
631107at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q10713

TreeFam database of animal gene trees

More...
TreeFami
TF105031

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR011249 Metalloenz_LuxS/M16
IPR011765 Pept_M16_N
IPR001431 Pept_M16_Zn_BS
IPR007863 Peptidase_M16_C
IPR037715 PMPCA

The PANTHER Classification System

More...
PANTHERi
PTHR11851:SF183 PTHR11851:SF183, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00675 Peptidase_M16, 1 hit
PF05193 Peptidase_M16_C, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF63411 SSF63411, 2 hits

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS00143 INSULINASE, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All

Isoform 1 (identifier: Q10713-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MAAVVLAATR LLRGSGSWGC SRLRFGPPAY RRFSSGGAYP NIPLSSPLPG
60 70 80 90 100
VPKPVFATVD GQEKFETKVT TLDNGLRVAS QNKFGQFCTV GILINSGSRY
110 120 130 140 150
EAKYLSGIAH FLEKLAFSST ARFDSKDEIL LTLEKHGGIC DCQTSRDTTM
160 170 180 190 200
YAVSADSKGL DTVVALLADV VLQPRLTDEE VEMTRMAVQF ELEDLNLRPD
210 220 230 240 250
PEPLLTEMIH EAAYRENTVG LHRFCPTENV AKINREVLHS YLRNYYTPDR
260 270 280 290 300
MVLAGVGVEH EHLVDCARKY LLGVQPAWGS AEAVDIDRSV AQYTGGIAKL
310 320 330 340 350
ERDMSNVSLG PTPIPELTHI MVGLESCSFL EEDFIPFAVL NMMMGGGGSF
360 370 380 390 400
SAGGPGKGMF SRLYLNVLNR HHWMYNATSY HHSYEDTGLL CIHASADPRQ
410 420 430 440 450
VREMVEIITK EFILMGGTVD TVELERAKTQ LTSMLMMNLE SRPVIFEDVG
460 470 480 490 500
RQVLATRSRK LPHELCTLIR NVKPEDVKRV ASKMLRGKPA VAALGDLTDL
510 520
PTYEHIQTAL SSKDGRLPRT YRLFR
Length:525
Mass (Da):58,253
Last modified:April 11, 2003 - v2
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i2751E7FCDC864E3F
GO
Isoform 2 (identifier: Q10713-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-46: MAAVVLAATR...GAYPNIPLSS → MKRNTLVELL...MGVSVTARHQ
     47-177: Missing.

Note: No experimental confirmation available.
Show »
Length:394
Mass (Da):44,866
Checksum:iE384C96ECCDCDD70
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
Q5SXN9Q5SXN9_HUMAN
Mitochondrial-processing peptidase ...
PMPCA
271Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence AAH33103 differs from that shown. Reason: Erroneous initiation.Curated
The sequence BAA04643 differs from that shown. Reason: Erroneous initiation.Curated
The sequence BAA09472 differs from that shown. Reason: Erroneous initiation.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti495G → C in AAH22949 (PubMed:15489334).Curated1
Sequence conflicti505H → D in BAA04643 (PubMed:7788527).Curated1

<p>This subsection of the ‘Sequence’ section reports information derived from mass spectrometry experiments done on the entire protein or on biologically active derived peptide(s).<p><a href='/help/mass_spectrometry' target='_top'>More...</a></p>Mass spectrometryi

Molecular mass is 54624.57 Da from positions 33 - 525. Determined by MALDI. 1 Publication

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07623796S → L in SCAR2. 1 PublicationCorresponds to variant dbSNP:rs869025292EnsemblClinVar.1
Natural variantiVAR_076238256V → M in SCAR2. 1 PublicationCorresponds to variant dbSNP:rs746549806EnsemblClinVar.1
Natural variantiVAR_076239377A → T in SCAR2; impairs cleavage of FXN; does not impair cleavage of DLD, NFS1 and PRDX3. 1 PublicationCorresponds to variant dbSNP:rs753611141EnsemblClinVar.1
Natural variantiVAR_076240515G → R in SCAR2. 1 PublicationCorresponds to variant dbSNP:rs869025293EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0549161 – 46MAAVV…IPLSS → MKRNTLVELLTFWKNWHFRL LLDLTAKMKFCLRWKSMGVS VTARHQ in isoform 2. 1 PublicationAdd BLAST46
Alternative sequenceiVSP_05491747 – 177Missing in isoform 2. 1 PublicationAdd BLAST131

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
D21064 mRNA Translation: BAA04643.1 Different initiation.
D50913 mRNA Translation: BAA09472.2 Different initiation.
AK296617 mRNA Translation: BAG59225.1
AL592301 Genomic DNA No translation available.
CH471090 Genomic DNA Translation: EAW88232.1
BC022949 mRNA Translation: AAH22949.1
BC033103 mRNA Translation: AAH33103.2 Different initiation.
BC111399 mRNA Translation: AAI11400.1
BC132724 mRNA Translation: AAI32725.1
BC136599 mRNA Translation: AAI36600.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS35180.1 [Q10713-1]
CCDS65192.1 [Q10713-2]

NCBI Reference Sequences

More...
RefSeqi
NP_001269873.1, NM_001282944.1 [Q10713-2]
NP_001269875.1, NM_001282946.1
NP_055975.1, NM_015160.2 [Q10713-1]

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.495471

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000371717; ENSP00000360782; ENSG00000165688 [Q10713-1]
ENST00000399219; ENSP00000416702; ENSG00000165688 [Q10713-2]

Database of genes from NCBI RefSeq genomes

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GeneIDi
23203

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:23203

UCSC genome browser

More...
UCSCi
uc004chl.5 human [Q10713-1]

Keywords - Coding sequence diversityi

Alternative splicing

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
D21064 mRNA Translation: BAA04643.1 Different initiation.
D50913 mRNA Translation: BAA09472.2 Different initiation.
AK296617 mRNA Translation: BAG59225.1
AL592301 Genomic DNA No translation available.
CH471090 Genomic DNA Translation: EAW88232.1
BC022949 mRNA Translation: AAH22949.1
BC033103 mRNA Translation: AAH33103.2 Different initiation.
BC111399 mRNA Translation: AAI11400.1
BC132724 mRNA Translation: AAI32725.1
BC136599 mRNA Translation: AAI36600.1
CCDSiCCDS35180.1 [Q10713-1]
CCDS65192.1 [Q10713-2]
RefSeqiNP_001269873.1, NM_001282944.1 [Q10713-2]
NP_001269875.1, NM_001282946.1
NP_055975.1, NM_015160.2 [Q10713-1]
UniGeneiHs.495471

3D structure databases

ProteinModelPortaliQ10713
SMRiQ10713
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi116811, 68 interactors
IntActiQ10713, 33 interactors
MINTiQ10713
STRINGi9606.ENSP00000360782

Protein family/group databases

MEROPSiM16.P01

PTM databases

iPTMnetiQ10713
PhosphoSitePlusiQ10713

Polymorphism and mutation databases

BioMutaiPMPCA
DMDMi29840846

Proteomic databases

EPDiQ10713
jPOSTiQ10713
PaxDbiQ10713
PeptideAtlasiQ10713
PRIDEiQ10713
ProteomicsDBi58867

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000371717; ENSP00000360782; ENSG00000165688 [Q10713-1]
ENST00000399219; ENSP00000416702; ENSG00000165688 [Q10713-2]
GeneIDi23203
KEGGihsa:23203
UCSCiuc004chl.5 human [Q10713-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
23203
DisGeNETi23203
EuPathDBiHostDB:ENSG00000165688.11

GeneCards: human genes, protein and diseases

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GeneCardsi
PMPCA

H-Invitational Database, human transcriptome db

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H-InvDBi
HIX0169363
HGNCiHGNC:18667 PMPCA
HPAiHPA021648
HPA063735
MalaCardsiPMPCA
MIMi213200 phenotype
613036 gene
neXtProtiNX_Q10713
OpenTargetsiENSG00000165688
Orphaneti1170 Autosomal recessive cerebelloparenchymal disorder type 3
PharmGKBiPA38629

Human Unidentified Gene-Encoded large proteins database

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HUGEi
Search...

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG2067 Eukaryota
COG0612 LUCA
GeneTreeiENSGT00940000156724
HOGENOMiHOG000206848
HOVERGENiHBG106890
InParanoidiQ10713
KOiK01412
OMAiRESMMYQ
OrthoDBi631107at2759
PhylomeDBiQ10713
TreeFamiTF105031

Enzyme and pathway databases

ReactomeiR-HSA-1268020 Mitochondrial protein import
R-HSA-8949664 Processing of SMDT1
SignaLinkiQ10713

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
PMPCA human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
PMPCA

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
23203

Protein Ontology

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PROi
PR:Q10713

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000165688 Expressed in 219 organ(s), highest expression level in heart left ventricle
CleanExiHS_INPP5E
HS_PMPCA
ExpressionAtlasiQ10713 baseline and differential
GenevisibleiQ10713 HS

Family and domain databases

InterProiView protein in InterPro
IPR011249 Metalloenz_LuxS/M16
IPR011765 Pept_M16_N
IPR001431 Pept_M16_Zn_BS
IPR007863 Peptidase_M16_C
IPR037715 PMPCA
PANTHERiPTHR11851:SF183 PTHR11851:SF183, 1 hit
PfamiView protein in Pfam
PF00675 Peptidase_M16, 1 hit
PF05193 Peptidase_M16_C, 1 hit
SUPFAMiSSF63411 SSF63411, 2 hits
PROSITEiView protein in PROSITE
PS00143 INSULINASE, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiMPPA_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q10713
Secondary accession number(s): B4DKL3
, E7ET61, Q16639, Q5SXM9, Q8N513
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: April 11, 2003
Last modified: January 16, 2019
This is version 179 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Peptidase families
    Classification of peptidase families and list of entries
  2. SIMILARITY comments
    Index of protein domains and families
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. Human chromosome 9
    Human chromosome 9: entries, gene names and cross-references to MIM
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