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Protein

Probable Xaa-Pro aminopeptidase 3

Gene

XPNPEP3

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

Functioni

Catalytic activityi

Release of any N-terminal amino acid, including proline, that is linked to proline, even from a dipeptide or tripeptide.

Cofactori

Mn2+By similarityNote: Binds 2 manganese ions per subunit.By similarity

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Metal bindingi331Manganese 2By similarity1
Metal bindingi342Manganese 1By similarity1
Metal bindingi342Manganese 2By similarity1
Metal bindingi424Manganese 1By similarity1
Metal bindingi451Manganese 1By similarity1
Metal bindingi475Manganese 1By similarity1
Metal bindingi475Manganese 2By similarity1

GO - Molecular functioni

  • aminopeptidase activity Source: MGI
  • manganese ion binding Source: InterPro
  • metallopeptidase activity Source: UniProtKB-KW

GO - Biological processi

  • glomerular filtration Source: MGI
  • protein processing Source: MGI
Complete GO annotation...

Keywords - Molecular functioni

Aminopeptidase, Hydrolase, Metalloprotease, Protease

Keywords - Ligandi

Manganese, Metal-binding

Enzyme and pathway databases

BioCyciZFISH:HS02068-MONOMER.
BRENDAi3.4.11.9. 2681.

Protein family/group databases

MEROPSiM24.026.

Names & Taxonomyi

Protein namesi
Recommended name:
Probable Xaa-Pro aminopeptidase 3 (EC:3.4.11.9)
Short name:
X-Pro aminopeptidase 3
Alternative name(s):
Aminopeptidase P3
Short name:
APP3
Gene namesi
Name:XPNPEP3
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 22

Organism-specific databases

HGNCiHGNC:28052. XPNPEP3.

Subcellular locationi

GO - Cellular componenti

  • extracellular exosome Source: UniProtKB
  • mitochondrion Source: MGI
Complete GO annotation...

Keywords - Cellular componenti

Mitochondrion

Pathology & Biotechi

Involvement in diseasei

Nephronophthisis-like nephropathy 1 (NPHPL1)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder with features of nephronophthisis, a cystic kidney disease leading to end-stage renal failure. Nephronophthisis is histologically characterized by modifications of the tubules with thickening of the basement membrane, interstitial fibrosis and, in the advanced stages, medullary cysts. Typical clinical manifestation are chronic renal failure, anemia, polyuria, polydipsia, isosthenuria, and growth retardation. Associations with extrarenal symptoms are frequent. In NPHPL1 patients, extrarenal symptoms include hypertension, essential tremor, sensorineural hearing loss and gout. Severely affected individuals can manifest a mitochondrial disorder with isolated complex I deficiency activity in muscle, seizures, mental retardation and hypertrophic dilated cardiomyopathy.
See also OMIM:613159
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_063820453G → C in NPHPL1. 1 PublicationCorresponds to variant rs267607179dbSNPEnsembl.1

Keywords - Diseasei

Ciliopathy, Disease mutation, Nephronophthisis

Organism-specific databases

DisGeNETi63929.
MalaCardsiXPNPEP3.
MIMi613159. phenotype.
OpenTargetsiENSG00000196236.
Orphaneti93589. Late-onset nephronophthisis.
PharmGKBiPA147357130.

Polymorphism and mutation databases

BioMutaiXPNPEP3.
DMDMi74761652.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002556541 – 507Probable Xaa-Pro aminopeptidase 3Add BLAST507

Proteomic databases

EPDiQ9NQH7.
MaxQBiQ9NQH7.
PaxDbiQ9NQH7.
PeptideAtlasiQ9NQH7.
PRIDEiQ9NQH7.

PTM databases

iPTMnetiQ9NQH7.
PhosphoSitePlusiQ9NQH7.

Expressioni

Tissue specificityi

Isoform 1 and isoform 2 are widely expressed, with isoform 1 being more abundant.1 Publication

Gene expression databases

BgeeiENSG00000196236.
CleanExiHS_XPNPEP3.
ExpressionAtlasiQ9NQH7. baseline and differential.
GenevisibleiQ9NQH7. HS.

Organism-specific databases

HPAiHPA000527.

Interactioni

Protein-protein interaction databases

BioGridi121997. 19 interactors.
IntActiQ9NQH7. 10 interactors.
MINTiMINT-1142970.
STRINGi9606.ENSP00000349658.

Structurei

3D structure databases

ProteinModelPortaliQ9NQH7.
SMRiQ9NQH7.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the peptidase M24B family.Curated

Phylogenomic databases

eggNOGiKOG2414. Eukaryota.
COG0006. LUCA.
GeneTreeiENSGT00550000074909.
HOVERGENiHBG057305.
InParanoidiQ9NQH7.
KOiK01262.
OMAiCILHYQQ.
OrthoDBiEOG091G09J7.
PhylomeDBiQ9NQH7.
TreeFamiTF314484.

Family and domain databases

Gene3Di3.40.350.10. 1 hit.
3.90.230.10. 1 hit.
InterProiIPR007865. Aminopep_P_N.
IPR029149. Creatin/AminoP/Spt16_NTD.
IPR028980. Creatinase/Aminopeptidase_P_N.
IPR000994. Pept_M24.
[Graphical view]
PfamiPF05195. AMP_N. 1 hit.
PF00557. Peptidase_M24. 1 hit.
[Graphical view]
SMARTiSM01011. AMP_N. 1 hit.
[Graphical view]
SUPFAMiSSF53092. SSF53092. 1 hit.
SSF55920. SSF55920. 1 hit.

Sequences (5)i

Sequence statusi: Complete.

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

Isoform 1 (identifier: Q9NQH7-1) [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
MPWLLSAPKL VPAVANVRGL SGCMLCSQRR YSLQPVPERR IPNRYLGQPS
60 70 80 90 100
PFTHPHLLRP GEVTPGLSQV EYALRRHKLM SLIQKEAQGQ SGTDQTVVVL
110 120 130 140 150
SNPTYYMSND IPYTFHQDNN FLYLCGFQEP DSILVLQSLP GKQLPSHKAI
160 170 180 190 200
LFVPRRDPSR ELWDGPRSGT DGAIALTGVD EAYTLEEFQH LLPKMKAETN
210 220 230 240 250
MVWYDWMRPS HAQLHSDYMQ PLTEAKAKSK NKVRGVQQLI QRLRLIKSPA
260 270 280 290 300
EIERMQIAGK LTSQAFIETM FTSKAPVEEA FLYAKFEFEC RARGADILAY
310 320 330 340 350
PPVVAGGNRS NTLHYVKNNQ LIKDGEMVLL DGGCESSCYV SDITRTWPVN
360 370 380 390 400
GRFTAPQAEL YEAVLEIQRD CLALCFPGTS LENIYSMMLT LIGQKLKDLG
410 420 430 440 450
IMKNIKENNA FKAARKYCPH HVGHYLGMDV HDTPDMPRSL PLQPGMVITI
460 470 480 490 500
EPGIYIPEDD KDAPEKFRGL GVRIEDDVVV TQDSPLILSA DCPKEMNDIE

QICSQAS
Length:507
Mass (Da):57,034
Last modified:October 1, 2000 - v1
Checksum:i82D886736ABD0B5B
GO
Isoform 2 (identifier: Q9NQH7-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-79: Missing.

Show »
Length:428
Mass (Da):48,112
Checksum:iE95AFE73A5D94D49
GO
Isoform 3 (identifier: Q9NQH7-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     265-278: AFIETMFTSKAPVE → RQGFSVLSRLVSNS
     279-507: Missing.

Note: No experimental confirmation available.
Show »
Length:278
Mass (Da):31,529
Checksum:iB4AD5CEB13853823
GO
Isoform 4 (identifier: Q9NQH7-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-23: Missing.

Note: No experimental confirmation available.
Show »
Length:484
Mass (Da):54,672
Checksum:i6320B2E5975918BB
GO
Isoform 5 (identifier: Q9NQH7-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     265-288: AFIETMFTSKAPVEEAFLYAKFEF → KSVLLARHGGSRLYSHHFGRPRLS
     289-507: Missing.

Note: No experimental confirmation available.
Show »
Length:288
Mass (Da):32,712
Checksum:iE245C092422567ED
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti340V → A in CAG33677 (Ref. 1) Curated1
Sequence conflicti486L → F in AAH01681 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_051573450I → L.Corresponds to variant rs17002243dbSNPEnsembl.1
Natural variantiVAR_063820453G → C in NPHPL1. 1 PublicationCorresponds to variant rs267607179dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0212961 – 79Missing in isoform 2. 1 PublicationAdd BLAST79
Alternative sequenceiVSP_0401421 – 23Missing in isoform 4. 1 PublicationAdd BLAST23
Alternative sequenceiVSP_040143265 – 288AFIET…AKFEF → KSVLLARHGGSRLYSHHFGR PRLS in isoform 5. 1 PublicationAdd BLAST24
Alternative sequenceiVSP_021297265 – 278AFIET…KAPVE → RQGFSVLSRLVSNS in isoform 3. 1 PublicationAdd BLAST14
Alternative sequenceiVSP_021298279 – 507Missing in isoform 3. 1 PublicationAdd BLAST229
Alternative sequenceiVSP_040144289 – 507Missing in isoform 5. 1 PublicationAdd BLAST219

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
CR457396 mRNA. Translation: CAG33677.1.
AL365514 mRNA. Translation: CAB97210.1.
CR456442 mRNA. Translation: CAG30328.1.
AK301635 mRNA. Translation: BAH13526.1.
AK301758 mRNA. Translation: BAH13548.1.
AK313770 mRNA. Translation: BAG36508.1.
AL834310 mRNA. Translation: CAD38980.1.
Z98048, AL035450 Genomic DNA. Translation: CAI20492.1.
AL035450, Z98048 Genomic DNA. Translation: CAI19023.1.
CH471095 Genomic DNA. Translation: EAW60399.1.
BC001208 mRNA. Translation: AAH01208.1.
BC001681 mRNA. Translation: AAH01681.1.
BC004989 mRNA. Translation: AAH04989.1.
CCDSiCCDS14007.1. [Q9NQH7-1]
RefSeqiNP_071381.1. NM_022098.3. [Q9NQH7-1]
UniGeneiHs.529163.

Genome annotation databases

EnsembliENST00000357137; ENSP00000349658; ENSG00000196236. [Q9NQH7-1]
GeneIDi63929.
KEGGihsa:63929.
UCSCiuc003azh.4. human. [Q9NQH7-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
CR457396 mRNA. Translation: CAG33677.1.
AL365514 mRNA. Translation: CAB97210.1.
CR456442 mRNA. Translation: CAG30328.1.
AK301635 mRNA. Translation: BAH13526.1.
AK301758 mRNA. Translation: BAH13548.1.
AK313770 mRNA. Translation: BAG36508.1.
AL834310 mRNA. Translation: CAD38980.1.
Z98048, AL035450 Genomic DNA. Translation: CAI20492.1.
AL035450, Z98048 Genomic DNA. Translation: CAI19023.1.
CH471095 Genomic DNA. Translation: EAW60399.1.
BC001208 mRNA. Translation: AAH01208.1.
BC001681 mRNA. Translation: AAH01681.1.
BC004989 mRNA. Translation: AAH04989.1.
CCDSiCCDS14007.1. [Q9NQH7-1]
RefSeqiNP_071381.1. NM_022098.3. [Q9NQH7-1]
UniGeneiHs.529163.

3D structure databases

ProteinModelPortaliQ9NQH7.
SMRiQ9NQH7.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi121997. 19 interactors.
IntActiQ9NQH7. 10 interactors.
MINTiMINT-1142970.
STRINGi9606.ENSP00000349658.

Protein family/group databases

MEROPSiM24.026.

PTM databases

iPTMnetiQ9NQH7.
PhosphoSitePlusiQ9NQH7.

Polymorphism and mutation databases

BioMutaiXPNPEP3.
DMDMi74761652.

Proteomic databases

EPDiQ9NQH7.
MaxQBiQ9NQH7.
PaxDbiQ9NQH7.
PeptideAtlasiQ9NQH7.
PRIDEiQ9NQH7.

Protocols and materials databases

DNASUi63929.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000357137; ENSP00000349658; ENSG00000196236. [Q9NQH7-1]
GeneIDi63929.
KEGGihsa:63929.
UCSCiuc003azh.4. human. [Q9NQH7-1]

Organism-specific databases

CTDi63929.
DisGeNETi63929.
GeneCardsiXPNPEP3.
HGNCiHGNC:28052. XPNPEP3.
HPAiHPA000527.
MalaCardsiXPNPEP3.
MIMi613159. phenotype.
613553. gene.
neXtProtiNX_Q9NQH7.
OpenTargetsiENSG00000196236.
Orphaneti93589. Late-onset nephronophthisis.
PharmGKBiPA147357130.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2414. Eukaryota.
COG0006. LUCA.
GeneTreeiENSGT00550000074909.
HOVERGENiHBG057305.
InParanoidiQ9NQH7.
KOiK01262.
OMAiCILHYQQ.
OrthoDBiEOG091G09J7.
PhylomeDBiQ9NQH7.
TreeFamiTF314484.

Enzyme and pathway databases

BioCyciZFISH:HS02068-MONOMER.
BRENDAi3.4.11.9. 2681.

Miscellaneous databases

ChiTaRSiXPNPEP3. human.
GeneWikiiXPNPEP3.
GenomeRNAii63929.
PROiQ9NQH7.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000196236.
CleanExiHS_XPNPEP3.
ExpressionAtlasiQ9NQH7. baseline and differential.
GenevisibleiQ9NQH7. HS.

Family and domain databases

Gene3Di3.40.350.10. 1 hit.
3.90.230.10. 1 hit.
InterProiIPR007865. Aminopep_P_N.
IPR029149. Creatin/AminoP/Spt16_NTD.
IPR028980. Creatinase/Aminopeptidase_P_N.
IPR000994. Pept_M24.
[Graphical view]
PfamiPF05195. AMP_N. 1 hit.
PF00557. Peptidase_M24. 1 hit.
[Graphical view]
SMARTiSM01011. AMP_N. 1 hit.
[Graphical view]
SUPFAMiSSF53092. SSF53092. 1 hit.
SSF55920. SSF55920. 1 hit.
ProtoNetiSearch...

Entry informationi

Entry nameiXPP3_HUMAN
AccessioniPrimary (citable) accession number: Q9NQH7
Secondary accession number(s): B2R9G1
, B7Z790, B7Z7B2, Q6I9V9, Q8NDA6, Q9BV27, Q9BVH0
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 31, 2006
Last sequence update: October 1, 2000
Last modified: November 30, 2016
This is version 141 of the entry and version 1 of the sequence. [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 22
    Human chromosome 22: 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. Peptidase families
    Classification of peptidase families and list of entries
  6. SIMILARITY comments
    Index of protein domains and families

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.