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O96018

- APBA3_HUMAN

UniProt

O96018 - APBA3_HUMAN

Protein

Amyloid beta A4 precursor protein-binding family A member 3

Gene

APBA3

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 116 (01 Oct 2014)
      Sequence version 1 (01 May 1999)
      Previous versions | rss
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    Functioni

    May modulate processing of the beta-amyloid precursor protein (APP) and hence formation of beta-APP. May enhance the activity of HIF1A in macrophages by inhibiting the activity of HIF1AN.1 Publication

    GO - Molecular functioni

    1. beta-amyloid binding Source: Ensembl
    2. enzyme binding Source: UniProtKB
    3. enzyme inhibitor activity Source: UniProtKB
    4. protein binding Source: UniProtKB

    GO - Biological processi

    1. in utero embryonic development Source: Ensembl
    2. negative regulation of catalytic activity Source: UniProtKB
    3. protein transport Source: UniProtKB-KW
    4. regulation of gene expression Source: Ensembl
    5. synaptic transmission Source: Ensembl

    Keywords - Biological processi

    Protein transport, Transport

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Amyloid beta A4 precursor protein-binding family A member 3
    Alternative name(s):
    Adapter protein X11gamma
    Neuron-specific X11L2 protein
    Neuronal Munc18-1-interacting protein 3
    Short name:
    Mint-3
    Gene namesi
    Name:APBA3
    Synonyms:MINT3, X11L2
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 19

    Organism-specific databases

    HGNCiHGNC:580. APBA3.

    Subcellular locationi

    Cytoplasmperinuclear region 1 Publication

    GO - Cellular componenti

    1. perinuclear region of cytoplasm Source: UniProtKB

    Keywords - Cellular componenti

    Cytoplasm

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA24872.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 575575Amyloid beta A4 precursor protein-binding family A member 3PRO_0000064620Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei1 – 11N-acetylmethionine1 Publication
    Modified residuei372 – 3721Phosphoserine1 Publication

    Keywords - PTMi

    Acetylation, Phosphoprotein

    Proteomic databases

    MaxQBiO96018.
    PaxDbiO96018.
    PRIDEiO96018.

    PTM databases

    PhosphoSiteiO96018.

    Expressioni

    Tissue specificityi

    Expressed in all tissues examined with lower levels in brain and testis.

    Gene expression databases

    ArrayExpressiO96018.
    BgeeiO96018.
    CleanExiHS_APBA3.
    GenevestigatoriO96018.

    Organism-specific databases

    HPAiHPA045577.

    Interactioni

    Subunit structurei

    Binds to the cytoplasmic domain of amyloid protein (APP) in vivo. Interacts with HIF1AN (via N-terminus).1 Publication

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    Azi2Q9QYP62EBI-6115839,EBI-6115874From a different organism.
    TANKQ928442EBI-6115839,EBI-356349
    TBKBP1A7MCY62EBI-6115839,EBI-359969

    Protein-protein interaction databases

    BioGridi114920. 8 interactions.
    IntActiO96018. 4 interactions.
    MINTiMINT-1207318.
    STRINGi9606.ENSP00000315136.

    Structurei

    Secondary structure

    1
    575
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Beta strandi393 – 3986
    Beta strandi407 – 4115
    Beta strandi415 – 4184
    Beta strandi421 – 4266
    Helixi433 – 4353
    Beta strandi443 – 4497
    Helixi457 – 46610
    Turni467 – 4693
    Beta strandi470 – 4778
    Beta strandi483 – 4908
    Beta strandi493 – 4953
    Beta strandi498 – 5025
    Beta strandi505 – 5095
    Helixi515 – 5184
    Beta strandi525 – 5295
    Helixi539 – 54810
    Beta strandi551 – 5588
    Helixi560 – 5667

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    2YT7NMR-A390-483[»]
    2YT8NMR-A483-569[»]
    ProteinModelPortaliO96018.
    SMRiO96018. Positions 213-575.
    ModBaseiSearch...
    MobiDBiSearch...

    Miscellaneous databases

    EvolutionaryTraceiO96018.

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini217 – 381165PIDPROSITE-ProRule annotationAdd
    BLAST
    Domaini394 – 48087PDZ 1PROSITE-ProRule annotationAdd
    BLAST
    Domaini485 – 56076PDZ 2PROSITE-ProRule annotationAdd
    BLAST

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi165 – 1717Poly-Ser

    Domaini

    Composed of an N-terminal domain, a middle phosphotyrosine-binding domain (PID/PTB) that mediates binding with the cytoplasmic domain of the beta-amyloid precursor protein, and two C-terminal PDZ domains thought to attach proteins to the plasma membrane.

    Sequence similaritiesi

    Contains 2 PDZ (DHR) domains.PROSITE-ProRule annotation
    Contains 1 PID domain.PROSITE-ProRule annotation

    Keywords - Domaini

    Repeat

    Phylogenomic databases

    eggNOGiNOG283022.
    HOGENOMiHOG000033981.
    HOVERGENiHBG050523.
    InParanoidiO96018.
    OMAiALHTISY.
    OrthoDBiEOG78PV8H.
    PhylomeDBiO96018.
    TreeFamiTF315245.

    Family and domain databases

    Gene3Di2.30.29.30. 1 hit.
    2.30.42.10. 2 hits.
    InterProiIPR001478. PDZ.
    IPR011993. PH_like_dom.
    IPR006020. PTB/PI_dom.
    [Graphical view]
    PfamiPF00595. PDZ. 2 hits.
    PF00640. PID. 1 hit.
    [Graphical view]
    SMARTiSM00228. PDZ. 2 hits.
    SM00462. PTB. 1 hit.
    [Graphical view]
    SUPFAMiSSF50156. SSF50156. 2 hits.
    PROSITEiPS50106. PDZ. 2 hits.
    PS01179. PID. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    O96018-1 [UniParc]FASTAAdd to Basket

    « Hide

    MDFPTISRSP SGPPAMDLEG PRDILVPSED LTPDSQWDPM PGGPGSLSRM    50
    ELDESSLQEL VQQFEALPGD LVGPSPGGAP CPLHIATGHG LASQEIADAH 100
    GLLSAEAGRD DLLGLLHCEE CPPSQTGPEE PLEPAPRLLQ PPEDPDEDSD 150
    SPEWVEGASA EQEGSRSSSS SPEPWLETVP LVTPEEPPAG AQSPETLASY 200
    PAPQEVPGPC DHEDLLDGVI FGARYLGSTQ LVSERNPPTS TRMAQAREAM 250
    DRVKAPDGET QPMTEVDLFV STKRIKVLTA DSQEAMMDHA LHTISYTADI 300
    GCVLVLMARR RLARRPAPQD HGRRLYKMLC HVFYAEDAQL IAQAIGQAFA 350
    AAYSQFLRES GIDPSQVGVH PSPGACHLHN GDLDHFSNSD NCREVHLEKR 400
    RGEGLGVALV ESGWGSLLPT AVIANLLHGG PAERSGALSI GDRLTAINGT 450
    SLVGLPLAAC QAAVRETKSQ TSVTLSIVHC PPVTTAIIHR PHAREQLGFC 500
    VEDGIICSLL RGGIAERGGI RVGHRIIEIN GQSVVATPHA RIIELLTEAY 550
    GEVHIKTMPA ATYRLLTGQE QPVYL 575
    Length:575
    Mass (Da):61,454
    Last modified:May 1, 1999 - v1
    Checksum:i3B910CC74C5F3840
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti505 – 5051I → IVRPRPLAPGWGGRAALSTA PEQPPPLSRAPLFLPQ in AAC17979. (PubMed:9860131)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti154 – 1541W → L.
    Corresponds to variant rs35932323 [ dbSNP | Ensembl ].
    VAR_050666
    Natural varianti276 – 2761K → T.
    Corresponds to variant rs3746119 [ dbSNP | Ensembl ].
    VAR_020134
    Natural varianti376 – 3761C → R.1 Publication
    Corresponds to variant rs8102086 [ dbSNP | Ensembl ].
    VAR_047952
    Natural varianti527 – 5271I → F.
    Corresponds to variant rs1045236 [ dbSNP | Ensembl ].
    VAR_011822

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AB021638 mRNA. Translation: BAA74430.1.
    AC005954 Genomic DNA. Translation: AAC72275.1.
    BC086306 mRNA. Translation: AAH86306.1.
    AB023431 Genomic DNA. Translation: BAA83094.1.
    AF029110 mRNA. Translation: AAC17979.1.
    CCDSiCCDS12110.1.
    PIRiJG0181.
    RefSeqiNP_004877.1. NM_004886.3.
    UniGeneiHs.25527.
    Hs.465607.

    Genome annotation databases

    EnsembliENST00000316757; ENSP00000315136; ENSG00000011132.
    GeneIDi9546.
    KEGGihsa:9546.
    UCSCiuc002lyo.1. human.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AB021638 mRNA. Translation: BAA74430.1 .
    AC005954 Genomic DNA. Translation: AAC72275.1 .
    BC086306 mRNA. Translation: AAH86306.1 .
    AB023431 Genomic DNA. Translation: BAA83094.1 .
    AF029110 mRNA. Translation: AAC17979.1 .
    CCDSi CCDS12110.1.
    PIRi JG0181.
    RefSeqi NP_004877.1. NM_004886.3.
    UniGenei Hs.25527.
    Hs.465607.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    2YT7 NMR - A 390-483 [» ]
    2YT8 NMR - A 483-569 [» ]
    ProteinModelPortali O96018.
    SMRi O96018. Positions 213-575.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 114920. 8 interactions.
    IntActi O96018. 4 interactions.
    MINTi MINT-1207318.
    STRINGi 9606.ENSP00000315136.

    PTM databases

    PhosphoSitei O96018.

    Proteomic databases

    MaxQBi O96018.
    PaxDbi O96018.
    PRIDEi O96018.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000316757 ; ENSP00000315136 ; ENSG00000011132 .
    GeneIDi 9546.
    KEGGi hsa:9546.
    UCSCi uc002lyo.1. human.

    Organism-specific databases

    CTDi 9546.
    GeneCardsi GC19M003750.
    HGNCi HGNC:580. APBA3.
    HPAi HPA045577.
    MIMi 604262. gene.
    neXtProti NX_O96018.
    PharmGKBi PA24872.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG283022.
    HOGENOMi HOG000033981.
    HOVERGENi HBG050523.
    InParanoidi O96018.
    OMAi ALHTISY.
    OrthoDBi EOG78PV8H.
    PhylomeDBi O96018.
    TreeFami TF315245.

    Miscellaneous databases

    ChiTaRSi APBA3. human.
    EvolutionaryTracei O96018.
    GeneWikii APBA3.
    GenomeRNAii 9546.
    NextBioi 35799.
    PROi O96018.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi O96018.
    Bgeei O96018.
    CleanExi HS_APBA3.
    Genevestigatori O96018.

    Family and domain databases

    Gene3Di 2.30.29.30. 1 hit.
    2.30.42.10. 2 hits.
    InterProi IPR001478. PDZ.
    IPR011993. PH_like_dom.
    IPR006020. PTB/PI_dom.
    [Graphical view ]
    Pfami PF00595. PDZ. 2 hits.
    PF00640. PID. 1 hit.
    [Graphical view ]
    SMARTi SM00228. PDZ. 2 hits.
    SM00462. PTB. 1 hit.
    [Graphical view ]
    SUPFAMi SSF50156. SSF50156. 2 hits.
    PROSITEi PS50106. PDZ. 2 hits.
    PS01179. PID. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "X11L2, a new member of X11 protein family interacts with Alzheimer's beta-amyloid precursor protein."
      Tanahashi H., Tabira T.
      Biochem. Biophys. Res. Commun. 255:663-667(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
      Tissue: Brain.
    2. "The DNA sequence and biology of human chromosome 19."
      Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J., Lamerdin J.E., Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M., Aerts A., Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E., Caenepeel S., Carrano A.V.
      , Caoile C., Chan Y.M., Christensen M., Cleland C.A., Copeland A., Dalin E., Dehal P., Denys M., Detter J.C., Escobar J., Flowers D., Fotopulos D., Garcia C., Georgescu A.M., Glavina T., Gomez M., Gonzales E., Groza M., Hammon N., Hawkins T., Haydu L., Ho I., Huang W., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Larionov V., Leem S.-H., Lopez F., Lou Y., Lowry S., Malfatti S., Martinez D., McCready P.M., Medina C., Morgan J., Nelson K., Nolan M., Ovcharenko I., Pitluck S., Pollard M., Popkie A.P., Predki P., Quan G., Ramirez L., Rash S., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., She X., Smith D., Slezak T., Solovyev V., Thayer N., Tice H., Tsai M., Ustaszewska A., Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J., Dubchak I., Furey T.S., DeJong P., Dickson M., Gordon D., Eichler E.E., Pennacchio L.A., Richardson P., Stubbs L., Rokhsar D.S., Myers R.M., Rubin E.M., Lucas S.M.
      Nature 428:529-535(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    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: Lung.
    4. "Genomic organization of the human X11L2 gene (APBA3), a third member of the X11 protein family interacting with Alzheimer's beta-amyloid precursor protein."
      Tanahashi H., Tabira T.
      NeuroReport 10:2575-2578(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 207-575.
    5. "Mint 3: a ubiquitous mint isoform that does not bind to munc18-1 or -2."
      Okamoto M., Suedhof T.C.
      Eur. J. Cell Biol. 77:161-165(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 472-575.
    6. "Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle."
      Daub H., Olsen J.V., Bairlein M., Gnad F., Oppermann F.S., Korner R., Greff Z., Keri G., Stemmann O., Mann M.
      Mol. Cell 31:438-448(2008) [PubMed] [Europe PMC] [Abstract]
      Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    7. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-372, VARIANT [LARGE SCALE ANALYSIS] ARG-376, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    8. "Mint3 enhances the activity of hypoxia-inducible factor-1 (HIF-1) in macrophages by suppressing the activity of factor inhibiting HIF-1."
      Sakamoto T., Seiki M.
      J. Biol. Chem. 284:30350-30359(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, INTERACTION WITH HIF1AN, SUBCELLULAR LOCATION.
    9. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    10. Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT MET-1, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    11. "Solution structure of the PDZ domain of amyloid beta A4 precursor protein-binding family A member 3."
      RIKEN structural genomics initiative (RSGI)
      Submitted (APR-2008) to the PDB data bank
      Cited for: STRUCTURE BY NMR OF 387-569.

    Entry informationi

    Entry nameiAPBA3_HUMAN
    AccessioniPrimary (citable) accession number: O96018
    Secondary accession number(s): O60483, Q9UPZ2
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: May 30, 2000
    Last sequence update: May 1, 1999
    Last modified: October 1, 2014
    This is version 116 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

    3D-structure, Complete proteome, Reference proteome

    Documents

    1. Human chromosome 19
      Human chromosome 19: 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. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
    6. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3