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P50539

- MXI1_HUMAN

UniProt

P50539 - MXI1_HUMAN

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Protein

Max-interacting protein 1

Gene

MXI1

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

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
Complete GO annotation...

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
Complete GO annotation...

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

BgeeiP50539.
CleanExiHS_MXI1.
ExpressionAtlasiP50539. baseline and differential.
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.
GeneTreeiENSGT00510000046360.
HOGENOMiHOG000247060.
HOVERGENiHBG006314.
InParanoidiP50539.
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

        10         20         30         40         50
MERVKMINVQ RLLEAAEFLE RRERECEHGY ASSFPSMPSP RLQHSKPPRR
60 70 80 90 100
LSRAQKHSSG SSNTSTANRS THNELEKNRR AHLRLCLERL KVLIPLGPDC
110 120 130 140 150
TRHTTLGLLN KAKAHIKKLE EAERKSQHQL ENLEREQRFL KWRLEQLQGP
160 170 180 190 200
QEMERIRMDS IGSTISSDRS DSEREEIEVD VESTEFSHGE VDNISTTSIS
210 220
DIDDHSSLPS IGSDEGYSSA SVKLSFTS
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.
GeneTreei ENSGT00510000046360.
HOGENOMi HOG000247060.
HOVERGENi HBG006314.
InParanoidi P50539.
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

Bgeei P50539.
CleanExi HS_MXI1.
ExpressionAtlasi P50539. baseline and differential.
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

« Hide 'large scale' publications
  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 29, 2014
This is version 138 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