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Q9HAP2

- MLXIP_HUMAN

UniProt

Q9HAP2 - MLXIP_HUMAN

Protein

MLX-interacting protein

Gene

MLXIP

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 95 (01 Oct 2014)
      Sequence version 2 (21 Aug 2007)
      Previous versions | rss
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    Functioni

    Binds DNA as a heterodimer with MLX and activates transcription. Binds to the canonical E box sequence 5'-CACGTG-3'. Plays a role in transcriptional activation of glycolytic target genes. Involved in glucose-responsive gene regulation.By similarity2 Publications

    GO - Molecular functioni

    1. DNA binding Source: UniProtKB-KW

    GO - Biological processi

    1. nucleocytoplasmic transport Source: Ensembl
    2. regulation of transcription, DNA-templated Source: UniProtKB-KW
    3. transcription, DNA-templated Source: UniProtKB-KW

    Keywords - Molecular functioni

    Activator

    Keywords - Biological processi

    Transcription, Transcription regulation

    Keywords - Ligandi

    DNA-binding

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    MLX-interacting protein
    Alternative name(s):
    Class E basic helix-loop-helix protein 36
    Short name:
    bHLHe36
    Transcriptional activator MondoA
    Gene namesi
    Name:MLXIPImported
    Synonyms:BHLHE36, KIAA0867, MIRImported, MONDOA
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 12

    Organism-specific databases

    HGNCiHGNC:17055. MLXIP.

    Subcellular locationi

    Cytoplasm 2 Publications. Nucleus 2 PublicationsPROSITE-ProRule annotation. Mitochondrion outer membrane 2 Publications
    Note: Predominantly cytoplasmic but shuttles between cytoplasm and nucleus when associated with MLX. Also associates with the outer mitochondrial membrane and may shuttle between the outer mitochondrial membrane and the nucleus.By similarity2 Publications

    GO - Cellular componenti

    1. mitochondrial outer membrane Source: UniProtKB-SubCell
    2. nucleus Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Cytoplasm, Membrane, Mitochondrion, Mitochondrion outer membrane, Nucleus

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA128394590.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Initiator methioninei1 – 11Removed1 Publication
    Chaini2 – 919918MLX-interacting proteinPRO_0000298763Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei2 – 21N-acetylalanine1 Publication
    Modified residuei27 – 271Phosphoserine1 Publication
    Modified residuei33 – 331Phosphoserine1 Publication

    Keywords - PTMi

    Acetylation, Phosphoprotein

    Proteomic databases

    MaxQBiQ9HAP2.
    PaxDbiQ9HAP2.
    PRIDEiQ9HAP2.

    PTM databases

    PhosphoSiteiQ9HAP2.

    Expressioni

    Tissue specificityi

    Widely expressed in adult tissues. Most abundant in skeletal muscle.1 Publication

    Gene expression databases

    ArrayExpressiQ9HAP2.
    BgeeiQ9HAP2.
    CleanExiHS_MLXIP.
    GenevestigatoriQ9HAP2.

    Organism-specific databases

    HPAiHPA023084.

    Interactioni

    Subunit structurei

    Efficient DNA binding requires dimerization with another bHLH protein. Binds DNA as a homodimer or a heterodimer with MLX.By similarity1 Publication

    Protein-protein interaction databases

    BioGridi116544. 2 interactions.
    IntActiQ9HAP2. 4 interactions.
    MINTiMINT-7032145.
    STRINGi9606.ENSP00000312834.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9HAP2.
    SMRiQ9HAP2. Positions 717-773.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini719 – 76951bHLHPROSITE-ProRule annotationAdd
    BLAST

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni73 – 327255Required for cytoplasmic localization1 PublicationAdd
    BLAST
    Regioni322 – 445124Transactivation domain1 PublicationAdd
    BLAST
    Regioni769 – 79022Leucine-zipperAdd
    BLAST
    Regioni832 – 88150Mediates heterotypic interactions between MLXIP and MLX and is required for cytoplasmic localization1 PublicationAdd
    BLAST

    Sequence similaritiesi

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

    Phylogenomic databases

    eggNOGiNOG276702.
    HOVERGENiHBG062003.
    InParanoidiQ9HAP2.
    KOiK09113.
    OMAiRPMVLST.
    OrthoDBiEOG7ZD1VF.
    PhylomeDBiQ9HAP2.
    TreeFamiTF324749.

    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 (5)i

    Sequence statusi: Complete.

    Sequence processingi: The displayed sequence is further processed into a mature form.

    This entry describes 5 isoformsi produced by alternative splicing. Align

    Isoform 11 Publication (identifier: Q9HAP2-1) [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

    MAADVFMCSP RRPRSRGRQV LLKPQVSEDD DDSDTDEPSP PPASGAATPA    50
    RAHASAAPPP PRAGPGREEP PRRQQIIHSG HFMVSSPHRE HPPKKGYDFD 100
    TVNKQTCQTY SFGKTSSCHL SIDASLTKLF ECMTLAYSGK LVSPKWKNFK 150
    GLKLQWRDKI RLNNAIWRAW YMQYLEKRKN PVCHFVTPLD GSVDVDEHRR 200
    PEAITTEGKY WKSRIEIVIR EYHKWRTYFK KRLQQHKDED LSSLVQDDDM 250
    LYWHKHGDGW KTPVPMEEDP LLDTDMLMSE FSDTLFSTLS SHQPVAWPNP 300
    REIAHLGNAD MIQPGLIPLQ PNLDFMDTFE PFQDLFSSSR SIFGSMLPAS 350
    ASAPVPDPNN PPAQESILPT TALPTVSLPD SLIAPPTAPS LAHMDEQGCE 400
    HTSRTEDPFI QPTDFGPSEP PLSVPQPFLP VFTMPLLSPS PAPPPISPVL 450
    PLVPPPATAL NPPAPPTFHQ PQKFAGVNKA PSVITHTASA TLTHDAPATT 500
    FSQSQGLVIT THHPAPSAAP CGLALSPVTR PPQPRLTFVH PKPVSLTGGR 550
    PKQPHKIVPA PKPEPVSLVL KNARIAPAAF SGQPQAVIMT SGPLKREGML 600
    ASTVSQSNVV IAPAAIARAP GVPEFHSSIL VTDLGHGTSS PPAPVSRLFP 650
    STAQDPLGKG EQVPLHGGSP QVTVTGPSRD CPNSGQASPC ASEQSPSPQS 700
    PQNNCSGKSD PKNVAALKNR QMKHISAEQK RRFNIKMCFD MLNSLISNNS 750
    KLTSHAITLQ KTVEYITKLQ QERGQMQEEA RRLREEIEEL NATIISCQQL 800
    LPATGVPVTR RQFDHMKDMF DEYVKTRTLQ NWKFWIFSII IKPLFESFKG 850
    MVSTSSLEEL HRTALSWLDQ HCSLPILRPM VLSTLRQLST STSILTDPAQ 900
    LPEQASKAVT RIGKRLGES 919
    Length:919
    Mass (Da):101,185
    Last modified:August 21, 2007 - v2
    Checksum:i47375FCC4333E0C2
    GO
    Isoform 21 Publication (identifier: Q9HAP2-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-393: Missing.

    Show »
    Length:526
    Mass (Da):56,822
    Checksum:i0C3ADBD852823E60
    GO
    Isoform 31 Publication (identifier: Q9HAP2-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         578-628: AAFSGQPQAV...APGVPEFHSS → GEPGGETQCG...HIHLNETKVS
         629-919: Missing.

    Note: No experimental confirmation available.Curated

    Show »
    Length:628
    Mass (Da):69,091
    Checksum:i30A3DE477411D863
    GO
    Isoform 41 Publication (identifier: Q9HAP2-4) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-393: Missing.
         770-772: QQE → LLS
         773-919: Missing.

    Show »
    Length:379
    Mass (Da):39,808
    Checksum:i6EC02D23459161A5
    GO
    Isoform 51 Publication (identifier: Q9HAP2-5) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-393: Missing.
         426-443: Missing.
         578-628: AAFSGQPQAV...APGVPEFHSS → GEPGGETQCG...HIHLNETKVS
         629-919: Missing.

    Note: No experimental confirmation available.Curated

    Show »
    Length:217
    Mass (Da):22,806
    Checksum:iCD8533894CB00AB3
    GO

    Sequence cautioni

    The sequence BAA74890.2 differs from that shown. Reason: Erroneous initiation.

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti396 – 3961E → G.2 Publications
    Corresponds to variant rs7978353 [ dbSNP | Ensembl ].
    VAR_059344
    Natural varianti539 – 5391V → L.
    Corresponds to variant rs34702867 [ dbSNP | Ensembl ].
    VAR_059345

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 393393Missing in isoform 2, isoform 4 and isoform 5. 3 PublicationsVSP_052499Add
    BLAST
    Alternative sequencei426 – 44318Missing in isoform 5. 1 PublicationVSP_052500Add
    BLAST
    Alternative sequencei578 – 62851AAFSG…EFHSS → GEPGGETQCGAPPDPEGCFP IPKAFKLVTTTTTLVCTCMR THIHLNETKVS in isoform 3 and isoform 5. 1 PublicationVSP_052501Add
    BLAST
    Alternative sequencei629 – 919291Missing in isoform 3 and isoform 5. 1 PublicationVSP_052502Add
    BLAST
    Alternative sequencei770 – 7723QQE → LLS in isoform 4. 1 PublicationVSP_052503
    Alternative sequencei773 – 919147Missing in isoform 4. 1 PublicationVSP_052504Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF312918 mRNA. Translation: AAG34121.1.
    AF245480 mRNA. Translation: AAL55689.1.
    AF245481 mRNA. Translation: AAL55690.1.
    AB020674 mRNA. Translation: BAA74890.2. Different initiation.
    BC017656 mRNA. Translation: AAH17656.1.
    BC028309 mRNA. Translation: AAH28309.1.
    BC039704 mRNA. Translation: AAH39704.1.
    BC151841 mRNA. Translation: AAI51842.1.
    RefSeqiNP_055753.3. NM_014938.5. [Q9HAP2-1]
    UniGeneiHs.437153.
    Hs.721711.
    Hs.731847.

    Genome annotation databases

    EnsembliENST00000319080; ENSP00000312834; ENSG00000175727. [Q9HAP2-1]
    ENST00000538698; ENSP00000440769; ENSG00000175727. [Q9HAP2-2]
    GeneIDi22877.
    KEGGihsa:22877.
    UCSCiuc001ubq.3. human. [Q9HAP2-1]
    uc001ubr.3. human. [Q9HAP2-3]

    Polymorphism databases

    DMDMi156632588.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF312918 mRNA. Translation: AAG34121.1 .
    AF245480 mRNA. Translation: AAL55689.1 .
    AF245481 mRNA. Translation: AAL55690.1 .
    AB020674 mRNA. Translation: BAA74890.2 . Different initiation.
    BC017656 mRNA. Translation: AAH17656.1 .
    BC028309 mRNA. Translation: AAH28309.1 .
    BC039704 mRNA. Translation: AAH39704.1 .
    BC151841 mRNA. Translation: AAI51842.1 .
    RefSeqi NP_055753.3. NM_014938.5. [Q9HAP2-1 ]
    UniGenei Hs.437153.
    Hs.721711.
    Hs.731847.

    3D structure databases

    ProteinModelPortali Q9HAP2.
    SMRi Q9HAP2. Positions 717-773.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 116544. 2 interactions.
    IntActi Q9HAP2. 4 interactions.
    MINTi MINT-7032145.
    STRINGi 9606.ENSP00000312834.

    PTM databases

    PhosphoSitei Q9HAP2.

    Polymorphism databases

    DMDMi 156632588.

    Proteomic databases

    MaxQBi Q9HAP2.
    PaxDbi Q9HAP2.
    PRIDEi Q9HAP2.

    Protocols and materials databases

    DNASUi 22877.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000319080 ; ENSP00000312834 ; ENSG00000175727 . [Q9HAP2-1 ]
    ENST00000538698 ; ENSP00000440769 ; ENSG00000175727 . [Q9HAP2-2 ]
    GeneIDi 22877.
    KEGGi hsa:22877.
    UCSCi uc001ubq.3. human. [Q9HAP2-1 ]
    uc001ubr.3. human. [Q9HAP2-3 ]

    Organism-specific databases

    CTDi 22877.
    GeneCardsi GC12P122516.
    H-InvDB HIX0019678.
    HGNCi HGNC:17055. MLXIP.
    HPAi HPA023084.
    MIMi 608090. gene.
    neXtProti NX_Q9HAP2.
    PharmGKBi PA128394590.
    HUGEi Search...
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG276702.
    HOVERGENi HBG062003.
    InParanoidi Q9HAP2.
    KOi K09113.
    OMAi RPMVLST.
    OrthoDBi EOG7ZD1VF.
    PhylomeDBi Q9HAP2.
    TreeFami TF324749.

    Miscellaneous databases

    ChiTaRSi MLXIP. human.
    GenomeRNAii 22877.
    NextBioi 43439.
    PROi Q9HAP2.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9HAP2.
    Bgeei Q9HAP2.
    CleanExi HS_MLXIP.
    Genevestigatori Q9HAP2.

    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. "MondoA, a novel basic helix-loop-helix-leucine zipper transcriptional activator that constitutes a positive branch of a max-like network."
      Billin A.N., Eilers A.L., Coulter K.L., Logan J.S., Ayer D.E.
      Mol. Cell. Biol. 20:8845-8854(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY.
    2. "Mir, a new bHLHZip protein interacting with Mlx."
      Merla G., Cairo S., Reymond A.
      Submitted (MAR-2000) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 2 AND 4), VARIANT GLY-396.
    3. "Prediction of the coding sequences of unidentified human genes. XII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro."
      Nagase T., Ishikawa K., Suyama M., Kikuno R., Hirosawa M., Miyajima N., Tanaka A., Kotani H., Nomura N., Ohara O.
      DNA Res. 5:355-364(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
      Tissue: Brain.
    4. "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 5), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 176-919 (ISOFORM 3), VARIANT GLY-396.
      Tissue: PancreasImported and PlacentaImported.
    5. "A novel heterodimerization domain, CRM1, and 14-3-3 control subcellular localization of the MondoA-Mlx heterocomplex."
      Eilers A.L., Sundwall E., Lin M., Sullivan A.A., Ayer D.E.
      Mol. Cell. Biol. 22:8514-8526(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, DNA-BINDING, INTERACTION WITH MLX, SUBCELLULAR LOCATION.
    6. "MondoA-Mlx heterodimers are candidate sensors of cellular energy status: mitochondrial localization and direct regulation of glycolysis."
      Sans C.L., Satterwhite D.J., Stoltzman C.A., Breen K.T., Ayer D.E.
      Mol. Cell. Biol. 26:4863-4871(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, SUBCELLULAR LOCATION.
    7. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-27 AND SER-33, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    8. "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach."
      Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S.
      Anal. Chem. 81:4493-4501(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    9. Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT ALA-2, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS], CLEAVAGE OF INITIATOR METHIONINE [LARGE SCALE ANALYSIS].

    Entry informationi

    Entry nameiMLXIP_HUMAN
    AccessioniPrimary (citable) accession number: Q9HAP2
    Secondary accession number(s): A7MBN0
    , O94945, Q7LC47, Q8IXP1, Q8TAH9, Q8WVQ0, Q8WYA5
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: August 21, 2007
    Last sequence update: August 21, 2007
    Last modified: October 1, 2014
    This is version 95 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 12
      Human chromosome 12: 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