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Q9NQH7

- XPP3_HUMAN

UniProt

Q9NQH7 - XPP3_HUMAN

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
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    • History
      Entry version 119 (01 Oct 2014)
      Sequence version 1 (01 Oct 2000)
      Previous versions | rss
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    Functioni

    Catalytic activityi

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

    Cofactori

    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

    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

    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

    ArrayExpressiQ9NQH7.
    BgeeiQ9NQH7.
    CleanExiHS_XPNPEP3.
    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.
    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

    MPWLLSAPKL VPAVANVRGL SGCMLCSQRR YSLQPVPERR IPNRYLGQPS    50
    PFTHPHLLRP GEVTPGLSQV EYALRRHKLM SLIQKEAQGQ SGTDQTVVVL 100
    SNPTYYMSND IPYTFHQDNN FLYLCGFQEP DSILVLQSLP GKQLPSHKAI 150
    LFVPRRDPSR ELWDGPRSGT DGAIALTGVD EAYTLEEFQH LLPKMKAETN 200
    MVWYDWMRPS HAQLHSDYMQ PLTEAKAKSK NKVRGVQQLI QRLRLIKSPA 250
    EIERMQIAGK LTSQAFIETM FTSKAPVEEA FLYAKFEFEC RARGADILAY 300
    PPVVAGGNRS NTLHYVKNNQ LIKDGEMVLL DGGCESSCYV SDITRTWPVN 350
    GRFTAPQAEL YEAVLEIQRD CLALCFPGTS LENIYSMMLT LIGQKLKDLG 400
    IMKNIKENNA FKAARKYCPH HVGHYLGMDV HDTPDMPRSL PLQPGMVITI 450
    EPGIYIPEDD KDAPEKFRGL GVRIEDDVVV TQDSPLILSA DCPKEMNDIE 500
    QICSQAS 507
    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:
    EMBL
    GenBank
    DDBJ
    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:
    EMBL
    GenBank
    DDBJ
    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.
    HOVERGENi HBG057305.
    InParanoidi Q9NQH7.
    KOi K01262.
    OMAi GPRSGKD.
    OrthoDBi EOG7K9K39.
    PhylomeDBi Q9NQH7.
    TreeFami TF314484.

    Miscellaneous databases

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

    Gene expression databases

    ArrayExpressi Q9NQH7.
    Bgeei Q9NQH7.
    CleanExi HS_XPNPEP3.
    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

    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: October 1, 2014
    This is version 119 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