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Q05195

- MAD1_HUMAN

UniProt

Q05195 - MAD1_HUMAN

Protein

Max dimerization protein 1

Gene

MXD1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 136 (01 Oct 2014)
      Sequence version 1 (01 Feb 1995)
      Previous versions | rss
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    Functioni

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

    GO - Molecular functioni

    1. RNA polymerase II core promoter proximal region sequence-specific DNA binding Source: NTNU_SB
    2. RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription Source: NTNU_SB
    3. sequence-specific DNA binding transcription factor activity Source: ProtInc
    4. transcription cofactor activity Source: ProtInc
    5. transcription corepressor activity Source: ProtInc

    GO - Biological processi

    1. cell proliferation Source: ProtInc
    2. multicellular organismal development Source: ProtInc
    3. negative regulation of transcription from RNA polymerase II promoter Source: NTNU_SB

    Keywords - Molecular functioni

    Repressor

    Keywords - Biological processi

    Transcription, Transcription regulation

    Keywords - Ligandi

    DNA-binding

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Max dimerization protein 1
    Short name:
    Max dimerizer 1
    Alternative name(s):
    Protein MAD
    Gene namesi
    Name:MXD1
    Synonyms:MAD
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 2

    Organism-specific databases

    HGNCiHGNC:6761. MXD1.

    Subcellular locationi

    GO - Cellular componenti

    1. nucleus Source: ProtInc

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA30520.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 221221Max dimerization protein 1PRO_0000127264Add
    BLAST

    Post-translational modificationi

    Ubiquitinated by BIRC2/c-IAP1, leading to its subsequent degradation by the proteasome.1 Publication

    Keywords - PTMi

    Ubl conjugation

    Proteomic databases

    PaxDbiQ05195.
    PRIDEiQ05195.

    PTM databases

    PhosphoSiteiQ05195.

    Expressioni

    Gene expression databases

    ArrayExpressiQ05195.
    BgeeiQ05195.
    CleanExiHS_MXD1.
    GenevestigatoriQ05195.

    Organism-specific databases

    HPAiHPA001599.

    Interactioni

    Subunit structurei

    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

    BioGridi110259. 16 interactions.
    DIPiDIP-204N.
    IntActiQ05195. 1 interaction.
    MINTiMINT-1510489.
    STRINGi9606.ENSP00000264444.

    Structurei

    Secondary structure

    1
    221
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Helixi9 – 1911
    Helixi58 – 8124
    Beta strandi87 – 893
    Helixi95 – 13440

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    1E91NMR-B8-20[»]
    1G1ENMR-A6-21[»]
    1NLWX-ray2.00A/D57-136[»]
    1PD7NMR-B5-28[»]
    1S5QNMR-A6-21[»]
    ProteinModelPortaliQ05195.
    SMRiQ05195. Positions 57-135.
    ModBaseiSearch...
    MobiDBiSearch...

    Miscellaneous databases

    EvolutionaryTraceiQ05195.

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini56 – 10853bHLHPROSITE-ProRule annotationAdd
    BLAST

    Motif

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Motifi21 – 4929Nuclear localization signalSequence AnalysisAdd
    BLAST

    Sequence similaritiesi

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

    Phylogenomic databases

    eggNOGiNOG238408.
    HOGENOMiHOG000247060.
    HOVERGENiHBG006314.
    InParanoidiQ05195.
    KOiK09114.
    OMAiDCDRKAI.
    PhylomeDBiQ05195.
    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 (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q05195-1) [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

    MAAAVRMNIQ MLLEAADYLE RREREAEHGY ASMLPYNNKD RDALKRRNKS    50
    KKNNSSSRST HNEMEKNRRA HLRLCLEKLK GLVPLGPESS RHTTLSLLTK 100
    AKLHIKKLED CDRKAVHQID QLQREQRHLK RQLEKLGIER IRMDSIGSTV 150
    SSERSDSDRE EIDVDVESTD YLTGDLDWSS SSVSDSDERG SMQSLGSDEG 200
    YSSTSIKRIK LQDSHKACLG L 221
    Length:221
    Mass (Da):25,254
    Last modified:February 1, 1995 - v1
    Checksum:iB39FAEBFD708B6AB
    GO
    Isoform 2 (identifier: Q05195-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         58-67: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:211
    Mass (Da):24,027
    Checksum:i0C30C9CD1A02730B
    GO

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei58 – 6710Missing in isoform 2. 1 PublicationVSP_043074

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    L06895 mRNA. Translation: AAA36194.1.
    CR536495 mRNA. Translation: CAG38734.1.
    CR541692 mRNA. Translation: CAG46493.1.
    AK312734 mRNA. Translation: BAG35605.1.
    AC019206 Genomic DNA. Translation: AAY14867.1.
    CH471053 Genomic DNA. Translation: EAW99839.1.
    BC069377 mRNA. Translation: AAH69377.1.
    BC069433 mRNA. Translation: AAH69433.1.
    BC098396 mRNA. Translation: AAH98396.1.
    BC113531 mRNA. Translation: AAI13532.1.
    BC117260 mRNA. Translation: AAI17261.1.
    BC143831 mRNA. Translation: AAI43832.1.
    CCDSiCCDS1896.1. [Q05195-1]
    CCDS56123.1. [Q05195-2]
    PIRiA45181.
    RefSeqiNP_001189442.1. NM_001202513.1.
    NP_001189443.1. NM_001202514.1. [Q05195-2]
    NP_002348.1. NM_002357.3. [Q05195-1]
    UniGeneiHs.468908.

    Genome annotation databases

    EnsembliENST00000264444; ENSP00000264444; ENSG00000059728. [Q05195-1]
    ENST00000540449; ENSP00000443935; ENSG00000059728. [Q05195-2]
    GeneIDi4084.
    KEGGihsa:4084.
    UCSCiuc002sfy.3. human. [Q05195-1]
    uc010yqs.2. human. [Q05195-2]

    Polymorphism databases

    DMDMi729978.

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    L06895 mRNA. Translation: AAA36194.1 .
    CR536495 mRNA. Translation: CAG38734.1 .
    CR541692 mRNA. Translation: CAG46493.1 .
    AK312734 mRNA. Translation: BAG35605.1 .
    AC019206 Genomic DNA. Translation: AAY14867.1 .
    CH471053 Genomic DNA. Translation: EAW99839.1 .
    BC069377 mRNA. Translation: AAH69377.1 .
    BC069433 mRNA. Translation: AAH69433.1 .
    BC098396 mRNA. Translation: AAH98396.1 .
    BC113531 mRNA. Translation: AAI13532.1 .
    BC117260 mRNA. Translation: AAI17261.1 .
    BC143831 mRNA. Translation: AAI43832.1 .
    CCDSi CCDS1896.1. [Q05195-1 ]
    CCDS56123.1. [Q05195-2 ]
    PIRi A45181.
    RefSeqi NP_001189442.1. NM_001202513.1.
    NP_001189443.1. NM_001202514.1. [Q05195-2 ]
    NP_002348.1. NM_002357.3. [Q05195-1 ]
    UniGenei Hs.468908.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    1E91 NMR - B 8-20 [» ]
    1G1E NMR - A 6-21 [» ]
    1NLW X-ray 2.00 A/D 57-136 [» ]
    1PD7 NMR - B 5-28 [» ]
    1S5Q NMR - A 6-21 [» ]
    ProteinModelPortali Q05195.
    SMRi Q05195. Positions 57-135.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 110259. 16 interactions.
    DIPi DIP-204N.
    IntActi Q05195. 1 interaction.
    MINTi MINT-1510489.
    STRINGi 9606.ENSP00000264444.

    PTM databases

    PhosphoSitei Q05195.

    Polymorphism databases

    DMDMi 729978.

    Proteomic databases

    PaxDbi Q05195.
    PRIDEi Q05195.

    Protocols and materials databases

    DNASUi 4084.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000264444 ; ENSP00000264444 ; ENSG00000059728 . [Q05195-1 ]
    ENST00000540449 ; ENSP00000443935 ; ENSG00000059728 . [Q05195-2 ]
    GeneIDi 4084.
    KEGGi hsa:4084.
    UCSCi uc002sfy.3. human. [Q05195-1 ]
    uc010yqs.2. human. [Q05195-2 ]

    Organism-specific databases

    CTDi 4084.
    GeneCardsi GC02P070124.
    HGNCi HGNC:6761. MXD1.
    HPAi HPA001599.
    MIMi 600021. gene.
    neXtProti NX_Q05195.
    PharmGKBi PA30520.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG238408.
    HOGENOMi HOG000247060.
    HOVERGENi HBG006314.
    InParanoidi Q05195.
    KOi K09114.
    OMAi DCDRKAI.
    PhylomeDBi Q05195.
    TreeFami TF315654.

    Miscellaneous databases

    EvolutionaryTracei Q05195.
    GeneWikii MXD1.
    GenomeRNAii 4084.
    NextBioi 16006.
    PROi Q05195.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q05195.
    Bgeei Q05195.
    CleanExi HS_MXD1.
    Genevestigatori Q05195.

    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. "Mad: a heterodimeric partner for Max that antagonizes Myc transcriptional activity."
      Ayer D.E., Kretzner L., Eisenman R.N.
      Cell 72:211-222(1993) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
      Tissue: Lung.
    2. "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).
    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] (ISOFORM 1).
      Tissue: Placenta.
    4. "Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
      Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H.
      , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
      Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    6. "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 2).
      Tissue: Brain and Placenta.
    7. "c-IAP1 cooperates with Myc by acting as a ubiquitin ligase for Mad1."
      Xu L., Zhu J., Hu X., Zhu H., Kim H.T., LaBaer J., Goldberg A., Yuan J.
      Mol. Cell 28:914-922(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: UBIQUITINATION BY BIRC2/C-IAP1.

    Entry informationi

    Entry nameiMAD1_HUMAN
    AccessioniPrimary (citable) accession number: Q05195
    Secondary accession number(s): B2R6V8
    , B7ZLI6, D6W5G2, Q6FI41
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: February 1, 1995
    Last sequence update: February 1, 1995
    Last modified: October 1, 2014
    This is version 136 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 2
      Human chromosome 2: entries, gene names and cross-references to MIM
    2. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    3. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
    4. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3