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P50539

- MXI1_HUMAN

UniProt

P50539 - MXI1_HUMAN

Protein

Max-interacting protein 1

Gene

MXI1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 137 (01 Oct 2014)
      Sequence version 2 (17 Oct 2006)
      Previous versions | rss
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    Functioni

    Transcriptional repressor. MXI1 binds with MAX to form a sequence-specific DNA-binding protein complex which recognizes the core sequence 5'-CAC[GA]TG-3'. MXI1 thus antagonizes MYC transcriptional activity by competing for MAX.

    GO - Molecular functioni

    1. DNA binding Source: ProtInc
    2. transcription corepressor activity Source: ProtInc

    GO - Biological processi

    1. cytoplasmic sequestering of transcription factor Source: ProtInc
    2. negative regulation of cell proliferation Source: ProtInc
    3. negative regulation of transcription from RNA polymerase II promoter Source: Ensembl
    4. transcription, DNA-templated Source: UniProtKB-KW

    Keywords - Molecular functioni

    Repressor

    Keywords - Biological processi

    Transcription, Transcription regulation

    Keywords - Ligandi

    DNA-binding

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Max-interacting protein 1
    Short name:
    Max interactor 1
    Alternative name(s):
    Class C basic helix-loop-helix protein 11
    Short name:
    bHLHc11
    Gene namesi
    Name:MXI1
    Synonyms:BHLHC11
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 10

    Organism-specific databases

    HGNCiHGNC:7534. MXI1.

    Subcellular locationi

    GO - Cellular componenti

    1. cytoplasm Source: HPA
    2. nucleolus Source: HPA
    3. nucleus Source: HPA

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Involvement in diseasei

    Prostate cancer (PC) [MIM:176807]: A malignancy originating in tissues of the prostate. Most prostate cancers are adenocarcinomas that develop in the acini of the prostatic ducts. Other rare histopathologic types of prostate cancer that occur in approximately 5% of patients include small cell carcinoma, mucinous carcinoma, prostatic ductal carcinoma, transitional cell carcinoma, squamous cell carcinoma, basal cell carcinoma, adenoid cystic carcinoma (basaloid), signet-ring cell carcinoma and neuroendocrine carcinoma.1 Publication
    Note: Disease susceptibility is associated with variations affecting the gene represented in this entry.

    Keywords - Diseasei

    Disease mutation, Proto-oncogene

    Organism-specific databases

    MIMi176807. phenotype.
    PharmGKBiPA31335.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 228228Max-interacting protein 1PRO_0000127285Add
    BLAST

    Proteomic databases

    MaxQBiP50539.
    PaxDbiP50539.
    PRIDEiP50539.

    PTM databases

    PhosphoSiteiP50539.

    Expressioni

    Tissue specificityi

    High levels found in the brain, heart and lung while lower levels are seen in the liver, kidney and skeletal muscle.

    Gene expression databases

    ArrayExpressiP50539.
    BgeeiP50539.
    CleanExiHS_MXI1.
    GenevestigatoriP50539.

    Organism-specific databases

    HPAiHPA035319.
    HPA056762.

    Interactioni

    Subunit structurei

    Interacts with SMC3 By similarity. Efficient DNA binding requires dimerization with another bHLH protein. Binds DNA as a heterodimer with MAX. Interacts with RNF17 By similarity.By similarity

    Protein-protein interaction databases

    BioGridi110686. 8 interactions.
    DIPiDIP-205N.
    IntActiP50539. 1 interaction.
    MINTiMINT-1480191.
    STRINGi9606.ENSP00000331152.

    Structurei

    3D structure databases

    ProteinModelPortaliP50539.
    SMRiP50539. Positions 68-144.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini67 – 11953bHLHPROSITE-ProRule annotationAdd
    BLAST

    Sequence similaritiesi

    Contains 1 bHLH (basic helix-loop-helix) domain.PROSITE-ProRule annotation

    Phylogenomic databases

    eggNOGiNOG238408.
    HOGENOMiHOG000247060.
    HOVERGENiHBG006314.
    KOiK09114.
    OMAiGLQDPKP.
    OrthoDBiEOG76T9V0.
    PhylomeDBiP50539.
    TreeFamiTF315654.

    Family and domain databases

    Gene3Di4.10.280.10. 1 hit.
    InterProiIPR011598. bHLH_dom.
    [Graphical view]
    PfamiPF00010. HLH. 1 hit.
    [Graphical view]
    SMARTiSM00353. HLH. 1 hit.
    [Graphical view]
    SUPFAMiSSF47459. SSF47459. 1 hit.
    PROSITEiPS50888. BHLH. 1 hit.
    [Graphical view]

    Sequences (4)i

    Sequence statusi: Complete.

    This entry describes 4 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: P50539-1) [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

    MERVKMINVQ RLLEAAEFLE RRERECEHGY ASSFPSMPSP RLQHSKPPRR    50
    LSRAQKHSSG SSNTSTANRS THNELEKNRR AHLRLCLERL KVLIPLGPDC 100
    TRHTTLGLLN KAKAHIKKLE EAERKSQHQL ENLEREQRFL KWRLEQLQGP 150
    QEMERIRMDS IGSTISSDRS DSEREEIEVD VESTEFSHGE VDNISTTSIS 200
    DIDDHSSLPS IGSDEGYSSA SVKLSFTS 228
    Length:228
    Mass (Da):26,062
    Last modified:October 17, 2006 - v2
    Checksum:i82F83F499B907DD3
    GO
    Isoform 2 (identifier: P50539-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-36: Missing.

    Show »
    Length:192
    Mass (Da):21,767
    Checksum:i3D8B586EEA033591
    GO
    Isoform 3 (identifier: P50539-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-25: MERVKMINVQRLLEAAEFLERRERE → MGKRGRPRKE...LEQIEKENKK

    Show »
    Length:295
    Mass (Da):32,820
    Checksum:iCD3E9228C9DB7660
    GO
    Isoform 4 (identifier: P50539-4) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-36: Missing.
         68-77: Missing.

    Show »
    Length:182
    Mass (Da):20,558
    Checksum:iC6A82E8A3F12A152
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti61 – 611S → T in AAA75508. (PubMed:8425219)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti152 – 1521E → A in prostate cancer. 1 Publication
    VAR_004499

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 3636Missing in isoform 2 and isoform 4. 3 PublicationsVSP_012825Add
    BLAST
    Alternative sequencei1 – 2525MERVK…RRERE → MGKRGRPRKEARCEGAGLAP AAPPAVPPAVAAPQPPALPE DPAGAKPRCPFSDIFNTSEN SMEKHINTFLQNVQILLEAA SYLEQIEKENKK in isoform 3. 1 PublicationVSP_037943Add
    BLAST
    Alternative sequencei68 – 7710Missing in isoform 4. 2 PublicationsVSP_043170

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    L07648 mRNA. Translation: AAA75508.1.
    U32515
    , U32512, U32513, U32514 Genomic DNA. Translation: AAC50446.1.
    D63940 mRNA. Translation: BAA09972.1.
    BT007069 mRNA. Translation: AAP35732.1.
    CR536576 mRNA. Translation: CAG38813.1.
    AL360182 Genomic DNA. Translation: CAI15475.1.
    AL360182 Genomic DNA. Translation: CAI15476.1.
    AL360182 Genomic DNA. Translation: CAI15479.1.
    AL360182 Genomic DNA. Translation: CAI15480.1.
    CH471066 Genomic DNA. Translation: EAW49565.1.
    CH471066 Genomic DNA. Translation: EAW49567.1.
    CH471066 Genomic DNA. Translation: EAW49568.1.
    CH471066 Genomic DNA. Translation: EAW49569.1.
    CH471066 Genomic DNA. Translation: EAW49570.1.
    BC012907 mRNA. Translation: AAH12907.1.
    BC035128 mRNA. Translation: AAH35128.2.
    S78470 Genomic DNA. Translation: AAD14282.1.
    CCDSiCCDS31284.1. [P50539-4]
    CCDS7563.1. [P50539-3]
    CCDS7564.2. [P50539-1]
    PIRiA45182.
    RefSeqiNP_001008541.1. NM_001008541.1. [P50539-4]
    NP_005953.4. NM_005962.4. [P50539-1]
    NP_569157.2. NM_130439.3. [P50539-3]
    UniGeneiHs.602078.
    Hs.728542.

    Genome annotation databases

    EnsembliENST00000239007; ENSP00000239007; ENSG00000119950. [P50539-1]
    ENST00000332674; ENSP00000331152; ENSG00000119950. [P50539-3]
    ENST00000361248; ENSP00000354606; ENSG00000119950. [P50539-4]
    ENST00000369612; ENSP00000358625; ENSG00000119950. [P50539-2]
    GeneIDi4601.
    KEGGihsa:4601.
    UCSCiuc001kyy.3. human. [P50539-3]
    uc001kyz.3. human. [P50539-4]
    uc001kza.3. human. [P50539-1]

    Polymorphism databases

    DMDMi116242666.

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Web resourcesi

    Atlas of Genetics and Cytogenetics in Oncology and Haematology

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    L07648 mRNA. Translation: AAA75508.1 .
    U32515
    , U32512 , U32513 , U32514 Genomic DNA. Translation: AAC50446.1 .
    D63940 mRNA. Translation: BAA09972.1 .
    BT007069 mRNA. Translation: AAP35732.1 .
    CR536576 mRNA. Translation: CAG38813.1 .
    AL360182 Genomic DNA. Translation: CAI15475.1 .
    AL360182 Genomic DNA. Translation: CAI15476.1 .
    AL360182 Genomic DNA. Translation: CAI15479.1 .
    AL360182 Genomic DNA. Translation: CAI15480.1 .
    CH471066 Genomic DNA. Translation: EAW49565.1 .
    CH471066 Genomic DNA. Translation: EAW49567.1 .
    CH471066 Genomic DNA. Translation: EAW49568.1 .
    CH471066 Genomic DNA. Translation: EAW49569.1 .
    CH471066 Genomic DNA. Translation: EAW49570.1 .
    BC012907 mRNA. Translation: AAH12907.1 .
    BC035128 mRNA. Translation: AAH35128.2 .
    S78470 Genomic DNA. Translation: AAD14282.1 .
    CCDSi CCDS31284.1. [P50539-4 ]
    CCDS7563.1. [P50539-3 ]
    CCDS7564.2. [P50539-1 ]
    PIRi A45182.
    RefSeqi NP_001008541.1. NM_001008541.1. [P50539-4 ]
    NP_005953.4. NM_005962.4. [P50539-1 ]
    NP_569157.2. NM_130439.3. [P50539-3 ]
    UniGenei Hs.602078.
    Hs.728542.

    3D structure databases

    ProteinModelPortali P50539.
    SMRi P50539. Positions 68-144.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 110686. 8 interactions.
    DIPi DIP-205N.
    IntActi P50539. 1 interaction.
    MINTi MINT-1480191.
    STRINGi 9606.ENSP00000331152.

    PTM databases

    PhosphoSitei P50539.

    Polymorphism databases

    DMDMi 116242666.

    Proteomic databases

    MaxQBi P50539.
    PaxDbi P50539.
    PRIDEi P50539.

    Protocols and materials databases

    DNASUi 4601.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000239007 ; ENSP00000239007 ; ENSG00000119950 . [P50539-1 ]
    ENST00000332674 ; ENSP00000331152 ; ENSG00000119950 . [P50539-3 ]
    ENST00000361248 ; ENSP00000354606 ; ENSG00000119950 . [P50539-4 ]
    ENST00000369612 ; ENSP00000358625 ; ENSG00000119950 . [P50539-2 ]
    GeneIDi 4601.
    KEGGi hsa:4601.
    UCSCi uc001kyy.3. human. [P50539-3 ]
    uc001kyz.3. human. [P50539-4 ]
    uc001kza.3. human. [P50539-1 ]

    Organism-specific databases

    CTDi 4601.
    GeneCardsi GC10P111957.
    HGNCi HGNC:7534. MXI1.
    HPAi HPA035319.
    HPA056762.
    MIMi 176807. phenotype.
    600020. gene.
    neXtProti NX_P50539.
    PharmGKBi PA31335.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG238408.
    HOGENOMi HOG000247060.
    HOVERGENi HBG006314.
    KOi K09114.
    OMAi GLQDPKP.
    OrthoDBi EOG76T9V0.
    PhylomeDBi P50539.
    TreeFami TF315654.

    Miscellaneous databases

    ChiTaRSi MXI1. human.
    GeneWikii MXI1.
    GenomeRNAii 4601.
    NextBioi 17692.
    PROi P50539.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi P50539.
    Bgeei P50539.
    CleanExi HS_MXI1.
    Genevestigatori P50539.

    Family and domain databases

    Gene3Di 4.10.280.10. 1 hit.
    InterProi IPR011598. bHLH_dom.
    [Graphical view ]
    Pfami PF00010. HLH. 1 hit.
    [Graphical view ]
    SMARTi SM00353. HLH. 1 hit.
    [Graphical view ]
    SUPFAMi SSF47459. SSF47459. 1 hit.
    PROSITEi PS50888. BHLH. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Mxi1, a protein that specifically interacts with Max to bind Myc-Max recognition sites."
      Zervos A.S., Gyuris J., Brent R.
      Cell 72:223-232(1993) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    2. Erratum
      Zervos A.S., Gyuris J., Brent R.
      Cell 79:388-388(1994)
    3. "Genomic organization of human MXI1, a putative tumor suppressor gene."
      Wechsler D.S., Shelly C.A., Dang C.V.
      Genomics 32:466-470(1996) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
    4. "Expression, regulation and polymorphism of the mxi1 genes."
      Shimizu E., Shirasawa H., Kodama K., Sato T., Shimizu B.
      Gene 176:45-48(1996) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
    5. "Cloning of human full-length CDSs in BD Creator(TM) system donor vector."
      Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S., Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y., Phelan M., Farmer A.
      Submitted (MAY-2003) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 4).
    6. "Cloning of human full open reading frames in Gateway(TM) system entry vector (pDONR201)."
      Halleck A., Ebert L., Mkoundinya M., Schick M., Eisenstein S., Neubert P., Kstrang K., Schatten R., Shen B., Henze S., Mar W., Korn B., Zuo D., Hu Y., LaBaer J.
      Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    7. "The DNA sequence and comparative analysis of human chromosome 10."
      Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L., Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K., Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L., Taylor A., Battles J.
      , Bird C.P., Ainscough R., Almeida J.P., Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Cahill P., Camire D., Carter N.P., Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S., Corby N., Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L., Frankish A., Frankland J.A., Garner P., Garnett J., Gribble S., Griffiths C., Grocock R., Gustafson E., Hammond S., Harley J.L., Hart E., Heath P.D., Ho T.P., Hopkins B., Horne J., Howden P.J., Huckle E., Hynds C., Johnson C., Johnson D., Kana A., Kay M., Kimberley A.M., Kershaw J.K., Kokkinaki M., Laird G.K., Lawlor S., Lee H.M., Leongamornlert D.A., Laird G., Lloyd C., Lloyd D.M., Loveland J., Lovell J., McLaren S., McLay K.E., McMurray A., Mashreghi-Mohammadi M., Matthews L., Milne S., Nickerson T., Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A., Ross M.T., Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W., Tracey A., Tromans A., Tsolas J., Wall M., Walsh J., Wang H., Weinstock K., West A.P., Willey D.L., Whitehead S.L., Wilming L., Wray P.W., Young L., Chen Y., Lovering R.C., Moschonas N.K., Siebert R., Fechtel K., Bentley D., Durbin R.M., Hubbard T., Doucette-Stamm L., Beck S., Smith D.R., Rogers J.
      Nature 429:375-381(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    8. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    9. "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 3 AND 4).
      Tissue: Hippocampus and Lung.
    10. "Redefinition of the coding sequence of the MXI1 gene and identification of a polymorphic repeat in the 3' non-coding region that allows the detection of loss of heterozygosity of chromosome 10q25 in glioblastomas."
      Albarosa R., Didonato S., Finocchiaro G.
      Hum. Genet. 95:709-711(1995) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 216-228.
    11. Cited for: VARIANT PROSTATE CANCER ALA-152.

    Entry informationi

    Entry nameiMXI1_HUMAN
    AccessioniPrimary (citable) accession number: P50539
    Secondary accession number(s): B1ANN7
    , D3DR25, D3DRA9, Q15887, Q6FHW2, Q96E53
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: October 1, 1996
    Last sequence update: October 17, 2006
    Last modified: October 1, 2014
    This is version 137 of the entry and version 2 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 10
      Human chromosome 10: 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. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3