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Q9NX62

- IMPA3_HUMAN

UniProt

Q9NX62 - IMPA3_HUMAN

Protein

Inositol monophosphatase 3

Gene

IMPAD1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 109 (01 Oct 2014)
      Sequence version 1 (01 Oct 2000)
      Previous versions | rss
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    Functioni

    May play a role in the formation of skeletal elements derived through endochondral ossification, possibly by clearing adenosine 3',5'-bisphosphate produced by Golgi sulfotransferases during glycosaminoglycan sulfation.By similarity

    Catalytic activityi

    Myo-inositol phosphate + H2O = myo-inositol + phosphate.
    Adenosine 3',5'-bisphosphate + H2O = adenosine 5'-phosphate + phosphate.

    Cofactori

    Magnesium.By similarity

    Enzyme regulationi

    Strongly inhibited by lithium.By similarity

    Pathwayi

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Metal bindingi133 – 1331Magnesium 1By similarity
    Binding sitei133 – 1331SubstrateBy similarity
    Metal bindingi174 – 1741Magnesium 1By similarity
    Metal bindingi174 – 1741Magnesium 2By similarity
    Metal bindingi176 – 1761Magnesium 1; via carbonyl oxygenBy similarity
    Metal bindingi177 – 1771Magnesium 2By similarity
    Metal bindingi300 – 3001Magnesium 2By similarity
    Binding sitei300 – 3001SubstrateBy similarity

    GO - Molecular functioni

    1. 3'(2'),5'-bisphosphate nucleotidase activity Source: UniProtKB-EC
    2. 3'-nucleotidase activity Source: Ensembl
    3. inositol monophosphate 1-phosphatase activity Source: UniProtKB-EC
    4. inositol monophosphate 3-phosphatase activity Source: UniProtKB-EC
    5. inositol monophosphate 4-phosphatase activity Source: UniProtKB-EC
    6. metal ion binding Source: UniProtKB-KW

    GO - Biological processi

    1. chondrocyte development Source: Ensembl
    2. chondroitin sulfate metabolic process Source: Ensembl
    3. embryonic digit morphogenesis Source: Ensembl
    4. endochondral ossification Source: Ensembl
    5. inositol biosynthetic process Source: UniProtKB-UniPathway
    6. phosphatidylinositol phosphorylation Source: InterPro
    7. post-embryonic development Source: Ensembl

    Keywords - Molecular functioni

    Hydrolase

    Keywords - Ligandi

    Magnesium, Metal-binding

    Enzyme and pathway databases

    BioCyciMetaCyc:HS02567-MONOMER.
    UniPathwayiUPA00823; UER00788.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Inositol monophosphatase 3 (EC:3.1.3.25, EC:3.1.3.7)
    Short name:
    IMP 3
    Short name:
    IMPase 3
    Alternative name(s):
    Golgi 3-prime phosphoadenosine 5-prime phosphate 3-prime phosphatase
    Short name:
    Golgi-resident PAP phosphatase
    Short name:
    gPAPP
    Inositol monophosphatase domain-containing protein 1
    Inositol-1(or 4)-monophosphatase 3
    Myo-inositol monophosphatase A3
    Gene namesi
    Name:IMPAD1
    Synonyms:IMPA3
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 8

    Organism-specific databases

    HGNCiHGNC:26019. IMPAD1.

    Subcellular locationi

    Golgi apparatustrans-Golgi network membrane 1 Publication; Single-pass type II membrane protein 1 Publication

    GO - Cellular componenti

    1. Golgi apparatus Source: MGI
    2. integral component of membrane Source: UniProtKB-KW
    3. membrane Source: UniProtKB

    Keywords - Cellular componenti

    Golgi apparatus, Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Chondrodysplasia with joint dislocations, GPAPP type (CDP-GPAPP) [MIM:614078]: A condition consisting of congenital joint dislocations, chondrodysplasia with short stature, micrognathia and cleft palate, and a distinctive face.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti177 – 1771D → N in CDP-GPAPP. 1 Publication
    VAR_065847
    Natural varianti183 – 1831T → P in CDP-GPAPP. 1 Publication
    VAR_065848

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

    MIMi614078. phenotype.
    Orphaneti1388. Catel-Manzke syndrome.
    280586. Chondrodysplasia with joint dislocations, gPAPP type.
    PharmGKBiPA142671657.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 359359Inositol monophosphatase 3PRO_0000289041Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi259 – 2591N-linked (GlcNAc...)1 Publication

    Post-translational modificationi

    Contains N-linked glycan resistant to endoglycosydase H.1 Publication

    Keywords - PTMi

    Glycoprotein

    Proteomic databases

    MaxQBiQ9NX62.
    PaxDbiQ9NX62.
    PeptideAtlasiQ9NX62.
    PRIDEiQ9NX62.

    PTM databases

    PhosphoSiteiQ9NX62.

    Expressioni

    Gene expression databases

    ArrayExpressiQ9NX62.
    BgeeiQ9NX62.
    CleanExiHS_IMPAD1.
    GenevestigatoriQ9NX62.

    Organism-specific databases

    HPAiHPA009411.

    Interactioni

    Protein-protein interaction databases

    BioGridi120268. 5 interactions.
    MINTiMINT-5003255.
    STRINGi9606.ENSP00000262644.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9NX62.
    SMRiQ9NX62. Positions 63-352.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 1212CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini34 – 359326LumenalSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei13 – 3321HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni176 – 1794Substrate bindingBy similarity

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi53 – 564Poly-Ala

    Sequence similaritiesi

    Belongs to the inositol monophosphatase family.Curated

    Keywords - Domaini

    Signal-anchor, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiCOG1218.
    HOGENOMiHOG000290671.
    HOVERGENiHBG062091.
    InParanoidiQ9NX62.
    KOiK15759.
    OMAiNVQINTE.
    OrthoDBiEOG7CG71H.
    PhylomeDBiQ9NX62.
    TreeFamiTF314300.

    Family and domain databases

    InterProiIPR000760. Inositol_monophosphatase.
    IPR020550. Inositol_monophosphatase_CS.
    [Graphical view]
    PANTHERiPTHR20854. PTHR20854. 1 hit.
    PfamiPF00459. Inositol_P. 1 hit.
    [Graphical view]
    PROSITEiPS00630. IMP_2. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    Q9NX62-1 [UniParc]FASTAAdd to Basket

    « Hide

    MAPMGIRLSP LGVAVFCLLG LGVLYHLYSG FLAGRFSLFG LGGEPGGGAA    50
    GPAAAADGGT VDLREMLAVS VLAAVRGGDE VRRVRESNVL HEKSKGKTRE 100
    GAEDKMTSGD VLSNRKMFYL LKTAFPSVQI NTEEHVDAAD QEVILWDHKI 150
    PEDILKEVTT PKEVPAESVT VWIDPLDATQ EYTEDLRKYV TTMVCVAVNG 200
    KPMLGVIHKP FSEYTAWAMV DGGSNVKARS SYNEKTPRIV VSRSHSGMVK 250
    QVALQTFGNQ TTIIPAGGAG YKVLALLDVP DKSQEKADLY IHVTYIKKWD 300
    ICAGNAILKA LGGHMTTLSG EEISYTGSDG IEGGLLASIR MNHQALVRKL 350
    PDLEKTGHK 359
    Length:359
    Mass (Da):38,681
    Last modified:October 1, 2000 - v1
    Checksum:i4818E989A9684847
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti51 – 511G → E in AAH67814. (PubMed:15489334)Curated
    Sequence conflicti123 – 1231T → A in AAH67814. (PubMed:15489334)Curated
    Sequence conflicti156 – 1561K → E in AAH67814. (PubMed:15489334)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti177 – 1771D → N in CDP-GPAPP. 1 Publication
    VAR_065847
    Natural varianti183 – 1831T → P in CDP-GPAPP. 1 Publication
    VAR_065848

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK000428 mRNA. Translation: BAA91158.1.
    AY032885 mRNA. Translation: AAK52336.1.
    BC017797 mRNA. Translation: AAH17797.1.
    BC067814 mRNA. Translation: AAH67814.1.
    CCDSiCCDS6169.1.
    RefSeqiNP_060283.3. NM_017813.4.
    UniGeneiHs.438689.

    Genome annotation databases

    EnsembliENST00000262644; ENSP00000262644; ENSG00000104331.
    GeneIDi54928.
    KEGGihsa:54928.
    UCSCiuc003xte.4. human.

    Polymorphism databases

    DMDMi74734687.

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK000428 mRNA. Translation: BAA91158.1 .
    AY032885 mRNA. Translation: AAK52336.1 .
    BC017797 mRNA. Translation: AAH17797.1 .
    BC067814 mRNA. Translation: AAH67814.1 .
    CCDSi CCDS6169.1.
    RefSeqi NP_060283.3. NM_017813.4.
    UniGenei Hs.438689.

    3D structure databases

    ProteinModelPortali Q9NX62.
    SMRi Q9NX62. Positions 63-352.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 120268. 5 interactions.
    MINTi MINT-5003255.
    STRINGi 9606.ENSP00000262644.

    PTM databases

    PhosphoSitei Q9NX62.

    Polymorphism databases

    DMDMi 74734687.

    Proteomic databases

    MaxQBi Q9NX62.
    PaxDbi Q9NX62.
    PeptideAtlasi Q9NX62.
    PRIDEi Q9NX62.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000262644 ; ENSP00000262644 ; ENSG00000104331 .
    GeneIDi 54928.
    KEGGi hsa:54928.
    UCSCi uc003xte.4. human.

    Organism-specific databases

    CTDi 54928.
    GeneCardsi GC08M057870.
    H-InvDB HIX0007522.
    HGNCi HGNC:26019. IMPAD1.
    HPAi HPA009411.
    MIMi 614010. gene.
    614078. phenotype.
    neXtProti NX_Q9NX62.
    Orphaneti 1388. Catel-Manzke syndrome.
    280586. Chondrodysplasia with joint dislocations, gPAPP type.
    PharmGKBi PA142671657.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG1218.
    HOGENOMi HOG000290671.
    HOVERGENi HBG062091.
    InParanoidi Q9NX62.
    KOi K15759.
    OMAi NVQINTE.
    OrthoDBi EOG7CG71H.
    PhylomeDBi Q9NX62.
    TreeFami TF314300.

    Enzyme and pathway databases

    UniPathwayi UPA00823 ; UER00788 .
    BioCyci MetaCyc:HS02567-MONOMER.

    Miscellaneous databases

    GenomeRNAii 54928.
    NextBioi 58023.
    PROi Q9NX62.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9NX62.
    Bgeei Q9NX62.
    CleanExi HS_IMPAD1.
    Genevestigatori Q9NX62.

    Family and domain databases

    InterProi IPR000760. Inositol_monophosphatase.
    IPR020550. Inositol_monophosphatase_CS.
    [Graphical view ]
    PANTHERi PTHR20854. PTHR20854. 1 hit.
    Pfami PF00459. Inositol_P. 1 hit.
    [Graphical view ]
    PROSITEi PS00630. IMP_2. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Molecular cloning and expression of human myo-inositol monophosphatase A3 cDNA (IMPA3)."
      Parthasarathy L., Parthasarathy R.
      Submitted (APR-2001) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    2. "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].
    3. "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].
      Tissue: Skin and Testis.
    4. "A role for a lithium-inhibited Golgi nucleotidase in skeletal development and sulfation."
      Frederick J.P., Tafari A.T., Wu S.M., Megosh L.C., Chiou S.T., Irving R.P., York J.D.
      Proc. Natl. Acad. Sci. U.S.A. 105:11605-11612(2008) [PubMed] [Europe PMC] [Abstract]
      Cited for: SUBCELLULAR LOCATION, GLYCOSYLATION.
    5. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    6. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    7. "Chondrodysplasia and abnormal joint development associated with mutations in IMPAD1, encoding the Golgi-resident nucleotide phosphatase, gPAPP."
      Vissers L.E., Lausch E., Unger S., Campos-Xavier A.B., Gilissen C., Rossi A., Del Rosario M., Venselaar H., Knoll U., Nampoothiri S., Nair M., Spranger J., Brunner H.G., Bonafe L., Veltman J.A., Zabel B., Superti-Furga A.
      Am. J. Hum. Genet. 88:608-615(2011) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS CDP-GPAPP ASN-177 AND PRO-183.

    Entry informationi

    Entry nameiIMPA3_HUMAN
    AccessioniPrimary (citable) accession number: Q9NX62
    Secondary accession number(s): Q6NVY7
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: May 29, 2007
    Last sequence update: October 1, 2000
    Last modified: October 1, 2014
    This is version 109 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 8
      Human chromosome 8: 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. PATHWAY comments
      Index of metabolic and biosynthesis pathways
    6. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3