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Q9HAP2

- MLXIP_HUMAN

UniProt

Q9HAP2 - MLXIP_HUMAN

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Protein

MLX-interacting protein

Gene

MLXIP

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

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 carbohydrate metabolic process by regulation of transcription from RNA polymerase II promoter Source: GO_Central
  3. transcription, DNA-templated Source: UniProtKB-KW
Complete GO annotation...

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-KW
  2. nucleus Source: UniProtKB-KW
Complete GO annotation...

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

BgeeiQ9HAP2.
CleanExiHS_MLXIP.
ExpressionAtlasiQ9HAP2. baseline and differential.
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. 3 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.
GeneTreeiENSGT00530000063219.
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

        10         20         30         40         50
MAADVFMCSP RRPRSRGRQV LLKPQVSEDD DDSDTDEPSP PPASGAATPA
60 70 80 90 100
RAHASAAPPP PRAGPGREEP PRRQQIIHSG HFMVSSPHRE HPPKKGYDFD
110 120 130 140 150
TVNKQTCQTY SFGKTSSCHL SIDASLTKLF ECMTLAYSGK LVSPKWKNFK
160 170 180 190 200
GLKLQWRDKI RLNNAIWRAW YMQYLEKRKN PVCHFVTPLD GSVDVDEHRR
210 220 230 240 250
PEAITTEGKY WKSRIEIVIR EYHKWRTYFK KRLQQHKDED LSSLVQDDDM
260 270 280 290 300
LYWHKHGDGW KTPVPMEEDP LLDTDMLMSE FSDTLFSTLS SHQPVAWPNP
310 320 330 340 350
REIAHLGNAD MIQPGLIPLQ PNLDFMDTFE PFQDLFSSSR SIFGSMLPAS
360 370 380 390 400
ASAPVPDPNN PPAQESILPT TALPTVSLPD SLIAPPTAPS LAHMDEQGCE
410 420 430 440 450
HTSRTEDPFI QPTDFGPSEP PLSVPQPFLP VFTMPLLSPS PAPPPISPVL
460 470 480 490 500
PLVPPPATAL NPPAPPTFHQ PQKFAGVNKA PSVITHTASA TLTHDAPATT
510 520 530 540 550
FSQSQGLVIT THHPAPSAAP CGLALSPVTR PPQPRLTFVH PKPVSLTGGR
560 570 580 590 600
PKQPHKIVPA PKPEPVSLVL KNARIAPAAF SGQPQAVIMT SGPLKREGML
610 620 630 640 650
ASTVSQSNVV IAPAAIARAP GVPEFHSSIL VTDLGHGTSS PPAPVSRLFP
660 670 680 690 700
STAQDPLGKG EQVPLHGGSP QVTVTGPSRD CPNSGQASPC ASEQSPSPQS
710 720 730 740 750
PQNNCSGKSD PKNVAALKNR QMKHISAEQK RRFNIKMCFD MLNSLISNNS
760 770 780 790 800
KLTSHAITLQ KTVEYITKLQ QERGQMQEEA RRLREEIEEL NATIISCQQL
810 820 830 840 850
LPATGVPVTR RQFDHMKDMF DEYVKTRTLQ NWKFWIFSII IKPLFESFKG
860 870 880 890 900
MVSTSSLEEL HRTALSWLDQ HCSLPILRPM VLSTLRQLST STSILTDPAQ
910
LPEQASKAVT RIGKRLGES
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. Curated

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:
EMBLi
GenBanki
DDBJi
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.
CCDSiCCDS73540.1. [Q9HAP2-1]
RefSeqiNP_055753.3. NM_014938.5. [Q9HAP2-1]
UniGeneiHs.437153.
Hs.721711.
Hs.731847.

Genome annotation databases

EnsembliENST00000319080; ENSP00000312834; ENSG00000175727. [Q9HAP2-1]
ENST00000377037; ENSP00000366236; ENSG00000175727. [Q9HAP2-5]
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:
EMBLi
GenBanki
DDBJi
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 .
CCDSi CCDS73540.1. [Q9HAP2-1 ]
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. 3 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 ]
ENST00000377037 ; ENSP00000366236 ; ENSG00000175727 . [Q9HAP2-5 ]
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.
GeneTreei ENSGT00530000063219.
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

Bgeei Q9HAP2.
CleanExi HS_MLXIP.
ExpressionAtlasi Q9HAP2. baseline and differential.
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

« Hide 'large scale' publications
  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 29, 2014
This is version 96 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