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UniProtKB - Q53F39 (MPPE1_HUMAN)

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Protein

Metallophosphoesterase 1

Gene

MPPE1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Metallophosphoesterase required for transport of GPI-anchor proteins from the endoplasmic reticulum to the Golgi. Acts in lipid remodeling steps of GPI-anchor maturation by mediating the removal of a side-chain ethanolamine-phosphate (EtNP) from the second Man (Man2) of the GPI intermediate, an essential step for efficient transport of GPI-anchor proteins.1 Publication

Cofactori

Mn2+1 PublicationNote: Binds 2 manganese ions per subunit.1 Publication

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Metal bindingi77Divalent metal cation 2Curated1
Metal bindingi119Divalent metal cation 1Curated1
Metal bindingi119Divalent metal cation 2Curated1
Metal bindingi157Divalent metal cation 1Curated1
Metal bindingi249Divalent metal cation 1Curated1
Metal bindingi303Divalent metal cation 1Curated1
Metal bindingi305Divalent metal cation 2Curated1

GO - Molecular functioni

Complete GO annotation...

GO - Biological processi

Complete GO annotation...

Keywordsi

Molecular functionHydrolase
Biological processER-Golgi transport, GPI-anchor biosynthesis, Transport
LigandManganese, Metal-binding

Names & Taxonomyi

Protein namesi
Recommended name:
Metallophosphoesterase 1 (EC:3.1.-.-)
Alternative name(s):
Post-GPI attachment to proteins factor 5
Gene namesi
Name:MPPE1
Synonyms:PGAP5
ORF Names:PP579
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 18

Organism-specific databases

HGNCiHGNC:15988. MPPE1.

Subcellular locationi

  • Endoplasmic reticulum-Golgi intermediate compartment membrane 1 Publication; Multi-pass membrane protein 1 Publication
  • Golgi apparatus › cis-Golgi network membrane 1 Publication; Multi-pass membrane protein 1 Publication

    • Note: Also localizes to endoplasmic reticulum exit site.

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transmembranei27 – 47HelicalSequence analysisAdd BLAST21
Transmembranei356 – 376HelicalSequence analysisAdd BLAST21

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Golgi apparatus, Membrane

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi77D → A: Affects transport of GPI-anchor proteins. 1 Publication1
Mutagenesisi79H → A: Affects transport of GPI-anchor proteins. 1 Publication1
Mutagenesisi119D → A or N: Affects transport of GPI-anchor proteins. 1 Publication1
Mutagenesisi157N → A: Affects transport of GPI-anchor proteins. 1 Publication1
Mutagenesisi158H → A: Affects transport of GPI-anchor proteins. 1 Publication1
Mutagenesisi249H → A: Affects transport of GPI-anchor proteins. 1 Publication1
Mutagenesisi303H → A: Affects transport of GPI-anchor proteins. 1 Publication1
Mutagenesisi305H → A: Affects transport of GPI-anchor proteins. 1 Publication1
Mutagenesisi392 – 394KRK → ARA: Affects subcellular localization. 1 Publication3

Organism-specific databases

DisGeNETi65258.
OpenTargetsiENSG00000154889.
PharmGKBiPA134913534.

Polymorphism and mutation databases

BioMutaiMPPE1.
DMDMi215274110.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003157271 – 396Metallophosphoesterase 1Add BLAST396

Proteomic databases

MaxQBiQ53F39.
PaxDbiQ53F39.
PeptideAtlasiQ53F39.
PRIDEiQ53F39.

PTM databases

iPTMnetiQ53F39.
PhosphoSitePlusiQ53F39.

Expressioni

Tissue specificityi

Expressed in brain.1 Publication

Gene expression databases

BgeeiENSG00000154889.
ExpressionAtlasiQ53F39. baseline and differential.
GenevisibleiQ53F39. HS.

Organism-specific databases

HPAiHPA012639.

Interactioni

Subunit structurei

Interacts with GPI-anchor proteins. Interacts with TMED10.1 Publication

Binary interactionsi

Show more details

Protein-protein interaction databases

BioGridi122415. 73 interactors.
IntActiQ53F39. 2 interactors.
STRINGi9606.ENSP00000465894.

Structurei

3D structure databases

ProteinModelPortaliQ53F39.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi392 – 396Di-lysine motif5

Domaini

The di-lysine motif (KxKxx) acts as an endoplasmic reticulum retrieval signal.1 Publication

Sequence similaritiesi

Belongs to the metallophosphoesterase superfamily. MPPE1 family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG3662. Eukaryota.
ENOG410ZM57. LUCA.
GeneTreeiENSGT00390000013236.
HOVERGENiHBG101555.
InParanoidiQ53F39.
OMAiQKLLWWL.
OrthoDBiEOG091G0LJF.
PhylomeDBiQ53F39.

Family and domain databases

Gene3Di3.60.21.10. 1 hit.
InterProiView protein in InterPro
IPR004843. Calcineurin-like_PHP_ApaH.
IPR029052. Metallo-depent_PP-like.
IPR033308. PGAP5/Cdc1/Ted1.
PANTHERiPTHR13315. PTHR13315. 1 hit.
PfamiView protein in Pfam
PF00149. Metallophos. 1 hit.
SUPFAMiSSF56300. SSF56300. 1 hit.

Sequences (5)i

Sequence statusi: Complete.

This entry describes 5 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q53F39-1) [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
MAMIELGFGR QNFHPLKRKS SLLLKLIAVV FAVLLFCEFL IYYLAIFQCN 
        60         70         80         90        100
WPEVKTTASD GEQTTREPVL KAMFLADTHL LGEFLGHWLD KLRREWQMER 
       110        120        130        140        150
AFQTALWLLQ PEVVFILGDI FDEGKWSTPE AWADDVERFQ KMFRHPSHVQ 
       160        170        180        190        200
LKVVAGNHDI GFHYEMNTYK VERFEKVFSS ERLFSWKGIN FVMVNSVALN 
       210        220        230        240        250
GDGCGICSET EAELIEVSHR LNCSREARGS SRCGPGPLLP TSAPVLLQHY 
       260        270        280        290        300
PLYRRSDANC SGEDAAPAEE RDIPFKENYD VLSREASQKL LWWLQPRLVL 
       310        320        330        340        350
SGHTHSACEV HHGGRVPELS VPSFSWRNRN NPSFIMGSIT PTDYTLSKCY 
       360        370        380        390 
LPREDVVLII YCGVVGFLVV LTLTHFGLLA SPFLSGLNLL GKRKTR
Length:396
Mass (Da):45,141
Last modified:November 25, 2008 - v2
Checksum:iD117BCDB1630560A
GO
Isoform 2 (identifier: Q53F39-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     338-396: SITPTDYTLSKCYLPREDVVLIIYCGVVGFLVVLTLTHFGLLASPFLSGLNLLGKRKTR → TDA

Show »
Length:340
Mass (Da):38,933
Checksum:i3F0B26CB0C48B354
GO
Isoform 3 (identifier: Q53F39-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     226-226: E → EQ
     338-396: SITPTDYTLSKCYLPREDVVLIIYCGVVGFLVVLTLTHFGLLASPFLSGLNLLGKRKTR → TDA

Show »
Length:341
Mass (Da):39,061
Checksum:i39DED2417CD4BBD4
GO
Isoform 4 (identifier: Q53F39-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     227-289: Missing.

Note: No experimental confirmation available.
Show »
Length:333
Mass (Da):38,270
Checksum:i6691B3999DC34E9E
GO
Isoform 5 (identifier: Q53F39-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     227-256: ARGSSRCGPGPLLPTSAPVLLQHYPLYRRS → VGEHLNATGAFCPVLLRFGCSLSPLALLAL
     257-396: Missing.

Note: No experimental confirmation available.
Show »
Length:256
Mass (Da):29,351
Checksum:i4BBDA145C3984B9D
GO

Sequence cautioni

The sequence BAB13863 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BAB14378 differs from that shown. Reason: Frameshift at position 201.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti22L → S in BAB14378 (PubMed:14702039).Curated1
Sequence conflicti32A → T in BAB14378 (PubMed:14702039).Curated1
Sequence conflicti97Q → R in AAL55744 (PubMed:15498874).Curated1
Sequence conflicti301S → I in AAH73994 (PubMed:15489334).Curated1
Sequence conflicti364V → E in AAM00279 (PubMed:11978971).Curated1
Sequence conflicti364V → E in AAM00277 (PubMed:11978971).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_038294138R → Q. Corresponds to variant dbSNP:rs11872520Ensembl.1
Natural variantiVAR_038295197V → M. Corresponds to variant dbSNP:rs35611363Ensembl.1
Natural variantiVAR_038296268A → P4 PublicationsCorresponds to variant dbSNP:rs662515Ensembl.1
Natural variantiVAR_038297336M → L. Corresponds to variant dbSNP:rs16976814Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_030679226E → EQ in isoform 3. 1 Publication1
Alternative sequenceiVSP_030680227 – 289Missing in isoform 4. 1 PublicationAdd BLAST63
Alternative sequenceiVSP_030681227 – 256ARGSS…LYRRS → VGEHLNATGAFCPVLLRFGC SLSPLALLAL in isoform 5. 1 PublicationAdd BLAST30
Alternative sequenceiVSP_030682257 – 396Missing in isoform 5. 1 PublicationAdd BLAST140
Alternative sequenceiVSP_030683338 – 396SITPT…KRKTR → TDA in isoform 2 and isoform 3. 4 PublicationsAdd BLAST59

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF363483, AF363482 Genomic DNA. Translation: AAM00277.1.
AF363483, AF363482 Genomic DNA. Translation: AAM00278.1.
AF363484 mRNA. Translation: AAM00279.1.
AK021647 mRNA. Translation: BAB13863.1. Different initiation.
AK023052 mRNA. Translation: BAB14378.1. Frameshift.
AK223450 mRNA. Translation: BAD97170.1.
AF289560 mRNA. Translation: AAL55744.1.
EF444996 Genomic DNA. Translation: ACA06017.1.
EF444996 Genomic DNA. Translation: ACA06018.1.
EF444996 Genomic DNA. Translation: ACA06019.1.
AP001269 Genomic DNA. No translation available.
CH471113 Genomic DNA. Translation: EAX01562.1.
CH471113 Genomic DNA. Translation: EAX01565.1.
CH471113 Genomic DNA. Translation: EAX01564.1.
CH471113 Genomic DNA. Translation: EAX01569.1.
CH471113 Genomic DNA. Translation: EAX01571.1.
CH471113 Genomic DNA. Translation: EAX01567.1.
CH471113 Genomic DNA. Translation: EAX01568.1.
BC002877 mRNA. Translation: AAH02877.1.
BC073994 mRNA. Translation: AAH73994.1.
CCDSiCCDS11853.1. [Q53F39-1]
CCDS56054.1. [Q53F39-4]
RefSeqiNP_001229833.1. NM_001242904.1. [Q53F39-4]
NP_001306083.1. NM_001319154.1. [Q53F39-4]
NP_075563.3. NM_023075.5. [Q53F39-1]
XP_006722409.1. XM_006722346.2. [Q53F39-1]
XP_011524034.1. XM_011525732.1. [Q53F39-3]
XP_016881411.1. XM_017025922.1. [Q53F39-1]
XP_016881412.1. XM_017025923.1. [Q53F39-1]
XP_016881413.1. XM_017025924.1. [Q53F39-1]
XP_016881414.1. XM_017025925.1. [Q53F39-1]
XP_016881415.1. XM_017025926.1. [Q53F39-1]
XP_016881419.1. XM_017025930.1.
UniGeneiHs.712666.
Hs.734268.

Genome annotation databases

EnsembliENST00000309976; ENSP00000311200; ENSG00000154889. [Q53F39-4]
ENST00000317235; ENSP00000327257; ENSG00000154889. [Q53F39-4]
ENST00000496196; ENSP00000433950; ENSG00000154889. [Q53F39-2]
ENST00000588072; ENSP00000465894; ENSG00000154889. [Q53F39-1]
GeneIDi65258.
KEGGihsa:65258.
UCSCiuc002kqf.5. human. [Q53F39-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.

Entry informationi

Entry nameiMPPE1_HUMAN
AccessioniPrimary (citable) accession number: Q53F39
Secondary accession number(s): B0YJ39
, B0YJ40, B0YJ41, B5ME53, B7WNJ3, D3DUI5, D3DUI7, Q6GMP1, Q8TAD6, Q8TE26, Q8WZ32, Q9BU58, Q9H958, Q9HAI4
Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 15, 2008
Last sequence update: November 25, 2008
Last modified: June 7, 2017
This is version 101 of the entry and version 2 of the sequence. See complete history.
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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 18
    Human chromosome 18: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families