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Q01432

- AMPD3_HUMAN

UniProt

Q01432 - AMPD3_HUMAN

Protein

AMP deaminase 3

Gene

AMPD3

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 141 (01 Oct 2014)
      Sequence version 1 (01 Jul 1993)
      Previous versions | rss
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    Functioni

    AMP deaminase plays a critical role in energy metabolism.

    Catalytic activityi

    AMP + H2O = IMP + NH3.

    Cofactori

    Binds 1 zinc ion per subunit.By similarity

    Pathwayi

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Metal bindingi317 – 3171Zinc; catalyticBy similarity
    Metal bindingi319 – 3191Zinc; catalyticBy similarity
    Binding sitei319 – 3191SubstrateBy similarity
    Metal bindingi586 – 5861Zinc; catalyticBy similarity
    Binding sitei589 – 5891SubstrateBy similarity
    Active sitei608 – 6081Proton acceptorPROSITE-ProRule annotation
    Metal bindingi663 – 6631Zinc; catalyticBy similarity

    GO - Molecular functioni

    1. AMP deaminase activity Source: ProtInc
    2. metal ion binding Source: UniProtKB-KW

    GO - Biological processi

    1. AMP catabolic process Source: ProtInc
    2. IMP salvage Source: UniProtKB-UniPathway
    3. nucleobase-containing small molecule metabolic process Source: Reactome
    4. purine-containing compound salvage Source: Reactome
    5. purine nucleobase metabolic process Source: Reactome
    6. small molecule metabolic process Source: Reactome

    Keywords - Molecular functioni

    Hydrolase

    Keywords - Biological processi

    Nucleotide metabolism

    Keywords - Ligandi

    Metal-binding, Zinc

    Enzyme and pathway databases

    ReactomeiREACT_1923. Purine salvage.
    SABIO-RKQ01432.
    UniPathwayiUPA00591; UER00663.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    AMP deaminase 3 (EC:3.5.4.6)
    Alternative name(s):
    AMP deaminase isoform E
    Erythrocyte AMP deaminase
    Gene namesi
    Name:AMPD3
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 11

    Organism-specific databases

    HGNCiHGNC:470. AMPD3.

    Subcellular locationi

    GO - Cellular componenti

    1. cytosol Source: Reactome

    Pathology & Biotechi

    Involvement in diseasei

    Adenosine monophosphate deaminase deficiency erythrocyte type (AMPDDE) [MIM:612874]: A metabolic disorder due to lack of activity of the erythrocyte isoform of AMP deaminase. It is a clinically asymptomatic condition characterized by a 50% increase in steady-state levels of ATP in affected cells. Individuals with complete deficiency of erythrocyte AMP deaminase are healthy and have no hematologic disorders.4 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti310 – 3101N → K in AMPDDE. 1 Publication
    VAR_042606
    Natural varianti311 – 3111V → L in AMPDDE. 1 Publication
    Corresponds to variant rs117706710 [ dbSNP | Ensembl ].
    VAR_042607
    Natural varianti320 – 3201A → V in AMPDDE. 1 Publication
    VAR_042608
    Natural varianti324 – 3241M → T in AMPDDE. 1 Publication
    VAR_042609
    Natural varianti331 – 3311R → C in AMPDDE. 1 Publication
    VAR_042610
    Natural varianti402 – 4021R → C in AMPDDE. 1 Publication
    VAR_042611
    Natural varianti450 – 4501W → R in AMPDDE. 2 Publications
    VAR_042612
    Natural varianti573 – 5731R → C in AMPDDE; enzyme inactive. 1 Publication
    Corresponds to variant rs3741040 [ dbSNP | Ensembl ].
    VAR_009881
    Natural varianti585 – 5851P → L in AMPDDE. 1 Publication
    VAR_042614
    Natural varianti712 – 7121Q → P in AMPDDE. 1 Publication
    VAR_042615

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

    MIMi612874. phenotype.
    Orphaneti45. Adenosine monophosphate deaminase deficiency.
    PharmGKBiPA24778.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 767767AMP deaminase 3PRO_0000194410Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei107 – 1071Phosphoserine1 Publication

    Keywords - PTMi

    Phosphoprotein

    Proteomic databases

    MaxQBiQ01432.
    PaxDbiQ01432.
    PRIDEiQ01432.

    PTM databases

    PhosphoSiteiQ01432.

    Expressioni

    Tissue specificityi

    Isoform 1 is the predominant form in skeletal muscle; Isoform 2 predominates in smooth muscle, non-muscle tissue, embryonic muscle and undifferentiated myoblasts; Isoform 3 is found in erythrocytes.

    Gene expression databases

    ArrayExpressiQ01432.
    BgeeiQ01432.
    CleanExiHS_AMPD3.
    GenevestigatoriQ01432.

    Organism-specific databases

    HPAiHPA047408.

    Interactioni

    Subunit structurei

    Homotetramer.

    Protein-protein interaction databases

    BioGridi106769. 3 interactions.
    IntActiQ01432. 2 interactions.
    STRINGi9606.ENSP00000256183.

    Structurei

    3D structure databases

    ProteinModelPortaliQ01432.
    SMRiQ01432. Positions 219-762.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni388 – 3936Substrate bindingBy similarity
    Regioni664 – 6674Substrate bindingBy similarity

    Sequence similaritiesi

    Phylogenomic databases

    eggNOGiCOG1816.
    HOGENOMiHOG000092200.
    HOVERGENiHBG050494.
    InParanoidiQ01432.
    KOiK01490.
    OMAiFSLHEML.
    OrthoDBiEOG70ZZMQ.
    PhylomeDBiQ01432.
    TreeFamiTF300439.

    Family and domain databases

    InterProiIPR006650. A/AMP_deam_AS.
    IPR001365. A/AMP_deaminase_dom.
    IPR006329. AMPD.
    [Graphical view]
    PANTHERiPTHR11359. PTHR11359. 1 hit.
    PfamiPF00962. A_deaminase. 1 hit.
    [Graphical view]
    PIRSFiPIRSF001251. AMP_deaminase_met. 1 hit.
    TIGRFAMsiTIGR01429. AMP_deaminase. 1 hit.
    PROSITEiPS00485. A_DEAMINASE. 1 hit.
    [Graphical view]

    Sequences (6)i

    Sequence statusi: Complete.

    This entry describes 6 isoformsi produced by alternative splicing. Align

    Isoform 1B (identifier: Q01432-1) [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

    MPRQFPKLNI SEVDEQVRLL AEKVFAKVLR EEDSKDALSL FTVPEDCPIG    50
    QKEAKERELQ KELAEQKSVE TAKRKKSFKM IRSQSLSLQM PPQQDWKGPP 100
    AASPAMSPTT PVVTGATSLP TPAPYAMPEF QRVTISGDYC AGITLEDYEQ 150
    AAKSLAKALM IREKYARLAY HRFPRITSQY LGHPRADTAP PEEGLPDFHP 200
    PPLPQEDPYC LDDAPPNLDY LVHMQGGILF VYDNKKMLEH QEPHSLPYPD 250
    LETYTVDMSH ILALITDGPT KTYCHRRLNF LESKFSLHEM LNEMSEFKEL 300
    KSNPHRDFYN VRKVDTHIHA AACMNQKHLL RFIKHTYQTE PDRTVAEKRG 350
    RKITLRQVFD GLHMDPYDLT VDSLDVHAGR QTFHRFDKFN SKYNPVGASE 400
    LRDLYLKTEN YLGGEYFARM VKEVARELEE SKYQYSEPRL SIYGRSPEEW 450
    PNLAYWFIQH KVYSPNMRWI IQVPRIYDIF RSKKLLPNFG KMLENIFLPL 500
    FKATINPQDH RELHLFLKYV TGFDSVDDES KHSDHMFSDK SPNPDVWTSE 550
    QNPPYSYYLY YMYANIMVLN NLRRERGLST FLFRPHCGEA GSITHLVSAF 600
    LTADNISHGL LLKKSPVLQY LYYLAQIPIA MSPLSNNSLF LEYSKNPLRE 650
    FLHKGLHVSL STDDPMQFHY TKEALMEEYA IAAQVWKLST CDLCEIARNS 700
    VLQSGLSHQE KQKFLGQNYY KEGPEGNDIR KTNVAQIRMA FRYETLCNEL 750
    SFLSDAMKSE EITALTN 767
    Length:767
    Mass (Da):88,812
    Last modified:July 1, 1993 - v1
    Checksum:i2E0A2C629003B98C
    GO
    Isoform 1A (identifier: Q01432-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-1: M → MALSSEPAEM
         208-767: Missing.

    Show »
    Length:216
    Mass (Da):24,119
    Checksum:i77821100D9737811
    GO
    Isoform 1C (identifier: Q01432-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-1: M → MEPGSAEM
         652-767: Missing.

    Show »
    Length:658
    Mass (Da):76,269
    Checksum:i0FDFC779DC4996F2
    GO
    Isoform 2 (identifier: Q01432-4) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-1: M → MALSSEPAEM

    Show »
    Length:776
    Mass (Da):89,728
    Checksum:i53FFE0714FC9BC45
    GO
    Isoform 3 (identifier: Q01432-5) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-1: M → MEPGSAEM

    Show »
    Length:774
    Mass (Da):89,514
    Checksum:i208BFD79F9053BA2
    GO
    Isoform 4 (identifier: Q01432-6) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-159: Missing.

    Show »
    Length:608
    Mass (Da):71,222
    Checksum:i04814500471AE377
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti185 – 1851R → W.
    Corresponds to variant rs11042836 [ dbSNP | Ensembl ].
    VAR_033499
    Natural varianti310 – 3101N → K in AMPDDE. 1 Publication
    VAR_042606
    Natural varianti311 – 3111V → L in AMPDDE. 1 Publication
    Corresponds to variant rs117706710 [ dbSNP | Ensembl ].
    VAR_042607
    Natural varianti320 – 3201A → V in AMPDDE. 1 Publication
    VAR_042608
    Natural varianti324 – 3241M → T in AMPDDE. 1 Publication
    VAR_042609
    Natural varianti331 – 3311R → C in AMPDDE. 1 Publication
    VAR_042610
    Natural varianti402 – 4021R → C in AMPDDE. 1 Publication
    VAR_042611
    Natural varianti450 – 4501W → R in AMPDDE. 2 Publications
    VAR_042612
    Natural varianti455 – 4551Y → H.
    Corresponds to variant rs36003153 [ dbSNP | Ensembl ].
    VAR_042613
    Natural varianti573 – 5731R → C in AMPDDE; enzyme inactive. 1 Publication
    Corresponds to variant rs3741040 [ dbSNP | Ensembl ].
    VAR_009881
    Natural varianti585 – 5851P → L in AMPDDE. 1 Publication
    VAR_042614
    Natural varianti712 – 7121Q → P in AMPDDE. 1 Publication
    VAR_042615

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 159159Missing in isoform 4. 1 PublicationVSP_044230Add
    BLAST
    Alternative sequencei1 – 11M → MALSSEPAEM in isoform 1A and isoform 2. 3 PublicationsVSP_001275
    Alternative sequencei1 – 11M → MEPGSAEM in isoform 1C and isoform 3. 2 PublicationsVSP_001276
    Alternative sequencei208 – 767560Missing in isoform 1A. 1 PublicationVSP_001277Add
    BLAST
    Alternative sequencei652 – 767116Missing in isoform 1C. 1 PublicationVSP_001278Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    D12775 mRNA. Translation: BAA02240.1.
    M84720 mRNA. Translation: AAA58365.1.
    M84721 mRNA. Translation: AAA58366.1.
    M84722 mRNA. Translation: AAA58367.1.
    U29926
    , U29929, U29907, U29909, U29910, U29911, U29916, U29917, U29918, U29922, U29924, U29925 Genomic DNA. Translation: AAB60410.1.
    U29926
    , U29912, U29929, U29907, U29909, U29910, U29911, U29916, U29917, U29918, U29922, U29924, U29925 Genomic DNA. Translation: AAB60408.1.
    U29926
    , U29927, U29929, U29907, U29909, U29910, U29911, U29916, U29917, U29918, U29922, U29924, U29925 Genomic DNA. Translation: AAB60409.1.
    D31646 Genomic DNA. Translation: BAA06505.1.
    AK289998 mRNA. Translation: BAF82687.1.
    AK295046 mRNA. Translation: BAH11958.1.
    AK301507 mRNA. Translation: BAH13499.1.
    AK302970 mRNA. Translation: BAH13863.1.
    AC084117 Genomic DNA. No translation available.
    CH471064 Genomic DNA. Translation: EAW68567.1.
    CH471064 Genomic DNA. Translation: EAW68568.1.
    CH471064 Genomic DNA. Translation: EAW68569.1.
    BC126118 mRNA. Translation: AAI26119.1.
    CCDSiCCDS41617.1. [Q01432-1]
    CCDS44537.1. [Q01432-5]
    CCDS53601.1. [Q01432-6]
    CCDS7802.1. [Q01432-4]
    PIRiS68146.
    S68147.
    RefSeqiNP_000471.1. NM_000480.2. [Q01432-4]
    NP_001020560.1. NM_001025389.1. [Q01432-1]
    NP_001020561.1. NM_001025390.1. [Q01432-5]
    NP_001165901.1. NM_001172430.1. [Q01432-1]
    NP_001165902.1. NM_001172431.1. [Q01432-6]
    UniGeneiHs.501890.

    Genome annotation databases

    EnsembliENST00000396553; ENSP00000379801; ENSG00000133805. [Q01432-1]
    ENST00000396554; ENSP00000379802; ENSG00000133805. [Q01432-4]
    ENST00000444303; ENSP00000396000; ENSG00000133805. [Q01432-6]
    ENST00000528723; ENSP00000436987; ENSG00000133805. [Q01432-5]
    ENST00000529507; ENSP00000431648; ENSG00000133805. [Q01432-1]
    GeneIDi272.
    KEGGihsa:272.
    UCSCiuc001min.1. human. [Q01432-4]
    uc001mio.1. human. [Q01432-1]
    uc001mip.1. human. [Q01432-5]

    Polymorphism databases

    DMDMi399033.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    D12775 mRNA. Translation: BAA02240.1 .
    M84720 mRNA. Translation: AAA58365.1 .
    M84721 mRNA. Translation: AAA58366.1 .
    M84722 mRNA. Translation: AAA58367.1 .
    U29926
    , U29929 , U29907 , U29909 , U29910 , U29911 , U29916 , U29917 , U29918 , U29922 , U29924 , U29925 Genomic DNA. Translation: AAB60410.1 .
    U29926
    , U29912 , U29929 , U29907 , U29909 , U29910 , U29911 , U29916 , U29917 , U29918 , U29922 , U29924 , U29925 Genomic DNA. Translation: AAB60408.1 .
    U29926
    , U29927 , U29929 , U29907 , U29909 , U29910 , U29911 , U29916 , U29917 , U29918 , U29922 , U29924 , U29925 Genomic DNA. Translation: AAB60409.1 .
    D31646 Genomic DNA. Translation: BAA06505.1 .
    AK289998 mRNA. Translation: BAF82687.1 .
    AK295046 mRNA. Translation: BAH11958.1 .
    AK301507 mRNA. Translation: BAH13499.1 .
    AK302970 mRNA. Translation: BAH13863.1 .
    AC084117 Genomic DNA. No translation available.
    CH471064 Genomic DNA. Translation: EAW68567.1 .
    CH471064 Genomic DNA. Translation: EAW68568.1 .
    CH471064 Genomic DNA. Translation: EAW68569.1 .
    BC126118 mRNA. Translation: AAI26119.1 .
    CCDSi CCDS41617.1. [Q01432-1 ]
    CCDS44537.1. [Q01432-5 ]
    CCDS53601.1. [Q01432-6 ]
    CCDS7802.1. [Q01432-4 ]
    PIRi S68146.
    S68147.
    RefSeqi NP_000471.1. NM_000480.2. [Q01432-4 ]
    NP_001020560.1. NM_001025389.1. [Q01432-1 ]
    NP_001020561.1. NM_001025390.1. [Q01432-5 ]
    NP_001165901.1. NM_001172430.1. [Q01432-1 ]
    NP_001165902.1. NM_001172431.1. [Q01432-6 ]
    UniGenei Hs.501890.

    3D structure databases

    ProteinModelPortali Q01432.
    SMRi Q01432. Positions 219-762.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 106769. 3 interactions.
    IntActi Q01432. 2 interactions.
    STRINGi 9606.ENSP00000256183.

    Chemistry

    BindingDBi Q01432.
    ChEMBLi CHEMBL2912.

    PTM databases

    PhosphoSitei Q01432.

    Polymorphism databases

    DMDMi 399033.

    Proteomic databases

    MaxQBi Q01432.
    PaxDbi Q01432.
    PRIDEi Q01432.

    Protocols and materials databases

    DNASUi 272.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000396553 ; ENSP00000379801 ; ENSG00000133805 . [Q01432-1 ]
    ENST00000396554 ; ENSP00000379802 ; ENSG00000133805 . [Q01432-4 ]
    ENST00000444303 ; ENSP00000396000 ; ENSG00000133805 . [Q01432-6 ]
    ENST00000528723 ; ENSP00000436987 ; ENSG00000133805 . [Q01432-5 ]
    ENST00000529507 ; ENSP00000431648 ; ENSG00000133805 . [Q01432-1 ]
    GeneIDi 272.
    KEGGi hsa:272.
    UCSCi uc001min.1. human. [Q01432-4 ]
    uc001mio.1. human. [Q01432-1 ]
    uc001mip.1. human. [Q01432-5 ]

    Organism-specific databases

    CTDi 272.
    GeneCardsi GC11P010329.
    HGNCi HGNC:470. AMPD3.
    HPAi HPA047408.
    MIMi 102772. gene.
    612874. phenotype.
    neXtProti NX_Q01432.
    Orphaneti 45. Adenosine monophosphate deaminase deficiency.
    PharmGKBi PA24778.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG1816.
    HOGENOMi HOG000092200.
    HOVERGENi HBG050494.
    InParanoidi Q01432.
    KOi K01490.
    OMAi FSLHEML.
    OrthoDBi EOG70ZZMQ.
    PhylomeDBi Q01432.
    TreeFami TF300439.

    Enzyme and pathway databases

    UniPathwayi UPA00591 ; UER00663 .
    Reactomei REACT_1923. Purine salvage.
    SABIO-RK Q01432.

    Miscellaneous databases

    ChiTaRSi AMPD3. human.
    GeneWikii AMPD3.
    GenomeRNAii 272.
    NextBioi 1073.
    PROi Q01432.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q01432.
    Bgeei Q01432.
    CleanExi HS_AMPD3.
    Genevestigatori Q01432.

    Family and domain databases

    InterProi IPR006650. A/AMP_deam_AS.
    IPR001365. A/AMP_deaminase_dom.
    IPR006329. AMPD.
    [Graphical view ]
    PANTHERi PTHR11359. PTHR11359. 1 hit.
    Pfami PF00962. A_deaminase. 1 hit.
    [Graphical view ]
    PIRSFi PIRSF001251. AMP_deaminase_met. 1 hit.
    TIGRFAMsi TIGR01429. AMP_deaminase. 1 hit.
    PROSITEi PS00485. A_DEAMINASE. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Cloning and nucleotide sequence of the cDNA encoding human erythrocyte-specific AMP deaminase."
      Yamada Y., Goto H., Ogasawara N.
      Biochim. Biophys. Acta 1171:125-128(1992) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1B).
    2. "Cloning of human AMP deaminase isoform E cDNAs. Evidence for a third AMPD gene exhibiting alternatively spliced 5'-exons."
      Mahnke-Zizelman D.K., Sabina R.L.
      J. Biol. Chem. 267:20866-20877(1992) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1A; 1B AND 1C).
      Tissue: Keratinocyte.
    3. "Characterization of the human AMPD3 gene reveals that 5' exon useage is subject to transcriptional control by three tandem promoters and alternative splicing."
      Mahnke-Zizelman D.K., Eddy R., Shows T.B., Sabina R.L.
      Biochim. Biophys. Acta 1306:75-92(1996) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORMS 1B; 2 AND 3), ALTERNATIVE SPLICING.
    4. "A point mutation responsible for human erythrocyte AMP deaminase deficiency."
      Yamada Y., Goto H., Ogasawara N.
      Hum. Mol. Genet. 3:331-334(1994) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 1B), VARIANT AMPDDE CYS-573.
    5. "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 1B; 2; 3 AND 4).
      Tissue: Brain, Synovium and Testis.
    6. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    7. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    8. "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] (ISOFORM 2).
    9. "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."
      Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K.
      Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-107, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Leukemic T-cell.
    10. "Molecular basis for human erythrocyte AMP deaminase deficiency: screening for the major point mutation and identification of other mutations."
      Yamada Y., Goto H., Murase T., Ogasawara N.
      Hum. Mol. Genet. 3:2243-2245(1994) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS AMPDDE LYS-310; VAL-320; THR-324; CYS-331; CYS-402; ARG-450 AND LEU-585.
    11. "Gene mutations responsible for human erythrocyte AMP deaminase deficiency in Poles."
      Yamada Y., Makarewicz W., Goto H., Nomura N., Kitoh H., Ogasawara N.
      Adv. Exp. Med. Biol. 431:347-350(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT AMPDDE LEU-311.
    12. "A rare case of complete human erythrocyte AMP deaminase deficiency due to two novel missense mutations in AMPD3."
      Yamada Y., Goto H., Wakamatsu N., Ogasawara N.
      Hum. Mutat. 17:78-78(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS AMPDDE ARG-450 AND PRO-712.

    Entry informationi

    Entry nameiAMPD3_HUMAN
    AccessioniPrimary (citable) accession number: Q01432
    Secondary accession number(s): A0AUX0
    , B7Z2S2, B7Z763, B7Z877
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: July 1, 1993
    Last sequence update: July 1, 1993
    Last modified: October 1, 2014
    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 11
      Human chromosome 11: 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