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Q9NQH7

- XPP3_HUMAN

UniProt

Q9NQH7 - XPP3_HUMAN

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Protein

Probable Xaa-Pro aminopeptidase 3

Gene

XPNPEP3

Organism
Homo sapiens (Human)
Status
Reviewed - 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)LengthDescriptionGraphical viewFeature identifierActions
Metal bindingi331 – 3311Manganese 2By similarity
Metal bindingi342 – 3421Manganese 1By similarity
Metal bindingi342 – 3421Manganese 2By similarity
Metal bindingi424 – 4241Manganese 1By similarity
Metal bindingi451 – 4511Manganese 1By similarity
Metal bindingi475 – 4751Manganese 1By similarity
Metal bindingi475 – 4751Manganese 2By similarity

GO - Molecular functioni

  1. aminopeptidase activity Source: MGI
  2. manganese ion binding Source: InterPro
  3. metallopeptidase activity Source: UniProtKB-KW

GO - Biological processi

  1. glomerular filtration Source: MGI
  2. protein processing Source: MGI
Complete GO annotation...

Keywords - Molecular functioni

Aminopeptidase, Hydrolase, Metalloprotease, Protease

Keywords - Ligandi

Manganese, Metal-binding

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
ProteomesiUP000005640: Chromosome 22

Organism-specific databases

HGNCiHGNC:28052. XPNPEP3.

Subcellular locationi

Mitochondrion 1 Publication

GO - Cellular componenti

  1. extracellular vesicular exosome Source: UniProt
  2. mitochondrion Source: MGI
Complete GO annotation...

Keywords - Cellular componenti

Mitochondrion

Pathology & Biotechi

Involvement in diseasei

Nephronophthisis-like nephropathy 1 (NPHPL1) [MIM:613159]: A 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.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti453 – 4531G → C in NPHPL1. 1 Publication
VAR_063820

Keywords - Diseasei

Ciliopathy, Disease mutation, Nephronophthisis

Organism-specific databases

MIMi613159. phenotype.
Orphaneti93589. Late-onset autosomal recessive medullary cystic kidney disease.
PharmGKBiPA147357130.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 507507Probable Xaa-Pro aminopeptidase 3PRO_0000255654Add
BLAST

Proteomic databases

MaxQBiQ9NQH7.
PaxDbiQ9NQH7.
PRIDEiQ9NQH7.

PTM databases

PhosphoSiteiQ9NQH7.

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiQ9NQH7.
CleanExiHS_XPNPEP3.
ExpressionAtlasiQ9NQH7. baseline and differential.
GenevestigatoriQ9NQH7.

Organism-specific databases

HPAiHPA000527.

Interactioni

Protein-protein interaction databases

BioGridi121997. 5 interactions.
IntActiQ9NQH7. 5 interactions.
MINTiMINT-1142970.
STRINGi9606.ENSP00000349658.

Structurei

3D structure databases

ProteinModelPortaliQ9NQH7.
SMRiQ9NQH7. Positions 67-506.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the peptidase M24B family.Curated

Phylogenomic databases

eggNOGiCOG0006.
GeneTreeiENSGT00550000074909.
HOVERGENiHBG057305.
InParanoidiQ9NQH7.
KOiK01262.
OMAiGPRSGKD.
OrthoDBiEOG7K9K39.
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_structural-domain.
[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. Align

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)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti340 – 3401V → A in CAG33677. 1 PublicationCurated
Sequence conflicti486 – 4861L → F in AAH01681. (PubMed:15489334)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti450 – 4501I → L.
Corresponds to variant rs17002243 [ dbSNP | Ensembl ].
VAR_051573
Natural varianti453 – 4531G → C in NPHPL1. 1 Publication
VAR_063820

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 7979Missing in isoform 2. 1 PublicationVSP_021296Add
BLAST
Alternative sequencei1 – 2323Missing in isoform 4. 1 PublicationVSP_040142Add
BLAST
Alternative sequencei265 – 28824AFIET…AKFEF → KSVLLARHGGSRLYSHHFGR PRLS in isoform 5. 1 PublicationVSP_040143Add
BLAST
Alternative sequencei265 – 27814AFIET…KAPVE → RQGFSVLSRLVSNS in isoform 3. 1 PublicationVSP_021297Add
BLAST
Alternative sequencei279 – 507229Missing in isoform 3. 1 PublicationVSP_021298Add
BLAST
Alternative sequencei289 – 507219Missing in isoform 5. 1 PublicationVSP_040144Add
BLAST

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.3. human. [Q9NQH7-1]
uc011aox.2. human. [Q9NQH7-5]

Polymorphism databases

DMDMi74761652.

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 .
CCDSi CCDS14007.1. [Q9NQH7-1 ]
RefSeqi NP_071381.1. NM_022098.3. [Q9NQH7-1 ]
UniGenei Hs.529163.

3D structure databases

ProteinModelPortali Q9NQH7.
SMRi Q9NQH7. Positions 67-506.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 121997. 5 interactions.
IntActi Q9NQH7. 5 interactions.
MINTi MINT-1142970.
STRINGi 9606.ENSP00000349658.

Protein family/group databases

MEROPSi M24.026.

PTM databases

PhosphoSitei Q9NQH7.

Polymorphism databases

DMDMi 74761652.

Proteomic databases

MaxQBi Q9NQH7.
PaxDbi Q9NQH7.
PRIDEi Q9NQH7.

Protocols and materials databases

DNASUi 63929.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000357137 ; ENSP00000349658 ; ENSG00000196236 . [Q9NQH7-1 ]
GeneIDi 63929.
KEGGi hsa:63929.
UCSCi uc003azh.3. human. [Q9NQH7-1 ]
uc011aox.2. human. [Q9NQH7-5 ]

Organism-specific databases

CTDi 63929.
GeneCardsi GC22P041253.
HGNCi HGNC:28052. XPNPEP3.
HPAi HPA000527.
MIMi 613159. phenotype.
613553. gene.
neXtProti NX_Q9NQH7.
Orphaneti 93589. Late-onset autosomal recessive medullary cystic kidney disease.
PharmGKBi PA147357130.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG0006.
GeneTreei ENSGT00550000074909.
HOVERGENi HBG057305.
InParanoidi Q9NQH7.
KOi K01262.
OMAi GPRSGKD.
OrthoDBi EOG7K9K39.
PhylomeDBi Q9NQH7.
TreeFami TF314484.

Miscellaneous databases

ChiTaRSi XPNPEP3. human.
GeneWikii XPNPEP3.
GenomeRNAii 63929.
NextBioi 65674.
PROi Q9NQH7.
SOURCEi Search...

Gene expression databases

Bgeei Q9NQH7.
CleanExi HS_XPNPEP3.
ExpressionAtlasi Q9NQH7. baseline and differential.
Genevestigatori Q9NQH7.

Family and domain databases

Gene3Di 3.40.350.10. 1 hit.
3.90.230.10. 1 hit.
InterProi IPR007865. Aminopep_P_N.
IPR029149. Creatin/AminoP/Spt16_NTD.
IPR028980. Creatinase/Aminopeptidase_P_N.
IPR000994. Pept_M24_structural-domain.
[Graphical view ]
Pfami PF05195. AMP_N. 1 hit.
PF00557. Peptidase_M24. 1 hit.
[Graphical view ]
SMARTi SM01011. AMP_N. 1 hit.
[Graphical view ]
SUPFAMi SSF53092. SSF53092. 1 hit.
SSF55920. SSF55920. 1 hit.
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Cloning of human full open reading frames in Gateway(TM) system entry vector (pDONR201)."
    Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B.
    Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
  2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
  3. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1; 4 AND 5).
    Tissue: Esophageal carcinoma and Testis.
  4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
    Tissue: Testis.
  5. "The DNA sequence of human chromosome 22."
    Dunham I., Hunt A.R., Collins J.E., Bruskiewich R., Beare D.M., Clamp M., Smink L.J., Ainscough R., Almeida J.P., Babbage A.K., Bagguley C., Bailey J., Barlow K.F., Bates K.N., Beasley O.P., Bird C.P., Blakey S.E., Bridgeman A.M.
    , Buck D., Burgess J., Burrill W.D., Burton J., Carder C., Carter N.P., Chen Y., Clark G., Clegg S.M., Cobley V.E., Cole C.G., Collier R.E., Connor R., Conroy D., Corby N.R., Coville G.J., Cox A.V., Davis J., Dawson E., Dhami P.D., Dockree C., Dodsworth S.J., Durbin R.M., Ellington A.G., Evans K.L., Fey J.M., Fleming K., French L., Garner A.A., Gilbert J.G.R., Goward M.E., Grafham D.V., Griffiths M.N.D., Hall C., Hall R.E., Hall-Tamlyn G., Heathcott R.W., Ho S., Holmes S., Hunt S.E., Jones M.C., Kershaw J., Kimberley A.M., King A., Laird G.K., Langford C.F., Leversha M.A., Lloyd C., Lloyd D.M., Martyn I.D., Mashreghi-Mohammadi M., Matthews L.H., Mccann O.T., Mcclay J., Mclaren S., McMurray A.A., Milne S.A., Mortimore B.J., Odell C.N., Pavitt R., Pearce A.V., Pearson D., Phillimore B.J.C.T., Phillips S.H., Plumb R.W., Ramsay H., Ramsey Y., Rogers L., Ross M.T., Scott C.E., Sehra H.K., Skuce C.D., Smalley S., Smith M.L., Soderlund C., Spragon L., Steward C.A., Sulston J.E., Swann R.M., Vaudin M., Wall M., Wallis J.M., Whiteley M.N., Willey D.L., Williams L., Williams S.A., Williamson H., Wilmer T.E., Wilming L., Wright C.L., Hubbard T., Bentley D.R., Beck S., Rogers J., Shimizu N., Minoshima S., Kawasaki K., Sasaki T., Asakawa S., Kudoh J., Shintani A., Shibuya K., Yoshizaki Y., Aoki N., Mitsuyama S., Roe B.A., Chen F., Chu L., Crabtree J., Deschamps S., Do A., Do T., Dorman A., Fang F., Fu Y., Hu P., Hua A., Kenton S., Lai H., Lao H.I., Lewis J., Lewis S., Lin S.-P., Loh P., Malaj E., Nguyen T., Pan H., Phan S., Qi S., Qian Y., Ray L., Ren Q., Shaull S., Sloan D., Song L., Wang Q., Wang Y., Wang Z., White J., Willingham D., Wu H., Yao Z., Zhan M., Zhang G., Chissoe S., Murray J., Miller N., Minx P., Fulton R., Johnson D., Bemis G., Bentley D., Bradshaw H., Bourne S., Cordes M., Du Z., Fulton L., Goela D., Graves T., Hawkins J., Hinds K., Kemp K., Latreille P., Layman D., Ozersky P., Rohlfing T., Scheet P., Walker C., Wamsley A., Wohldmann P., Pepin K., Nelson J., Korf I., Bedell J.A., Hillier L.W., Mardis E., Waterston R., Wilson R., Emanuel B.S., Shaikh T., Kurahashi H., Saitta S., Budarf M.L., McDermid H.E., Johnson A., Wong A.C.C., Morrow B.E., Edelmann L., Kim U.J., Shizuya H., Simon M.I., Dumanski J.P., Peyrard M., Kedra D., Seroussi E., Fransson I., Tapia I., Bruder C.E., O'Brien K.P., Wilkinson P., Bodenteich A., Hartman K., Hu X., Khan A.S., Lane L., Tilahun Y., Wright H.
    Nature 402:489-495(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  6. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  7. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 3).
    Tissue: Lung.
  8. "Aminopeptidase P isozyme expression in human tissues and peripheral blood mononuclear cell fractions."
    Ersahin C., Szpaderska A.M., Orawski A.T., Simmons W.H.
    Arch. Biochem. Biophys. 435:303-310(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: TISSUE SPECIFICITY.
  9. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  10. "Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy."
    O'Toole J.F., Liu Y., Davis E.E., Westlake C.J., Attanasio M., Otto E.A., Seelow D., Nurnberg G., Becker C., Nuutinen M., Karppa M., Ignatius J., Uusimaa J., Pakanen S., Jaakkola E., van den Heuvel L.P., Fehrenbach H., Wiggins R.
    , Goyal M., Zhou W., Wolf M.T., Wise E., Helou J., Allen S.J., Murga-Zamalloa C.A., Ashraf S., Chaki M., Heeringa S., Chernin G., Hoskins B.E., Chaib H., Gleeson J., Kusakabe T., Suzuki T., Isaac R.E., Quarmby L.M., Tennant B., Fujioka H., Tuominen H., Hassinen I., Lohi H., van Houten J.L., Rotig A., Sayer J.A., Rolinski B., Freisinger P., Madhavan S.M., Herzer M., Madignier F., Prokisch H., Nurnberg P., Jackson P.K., Khanna H., Katsanis N., Hildebrandt F.
    J. Clin. Invest. 120:791-802(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT NPHPL1 CYS-453, SUBCELLULAR LOCATION.

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 26, 2014
This is version 121 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

External Data

Dasty 3