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P50539 (MXI1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 136. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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 names
Name:MXI1
Synonyms:BHLHC11
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length228 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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.

Subunit structure

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.

Subcellular location

Nucleus.

Tissue specificity

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

Involvement in disease

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.
Note: Disease susceptibility is associated with variations affecting the gene represented in this entry.

Sequence similarities

Contains 1 bHLH (basic helix-loop-helix) domain.

Alternative products

This entry describes 4 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: P50539-1)

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.
Isoform 2 (identifier: P50539-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-36: Missing.
Isoform 3 (identifier: P50539-3)

The sequence of this isoform differs from the canonical sequence as follows:
     1-25: MERVKMINVQRLLEAAEFLERRERE → MGKRGRPRKE...LEQIEKENKK
Isoform 4 (identifier: P50539-4)

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 228228Max-interacting protein 1
PRO_0000127285

Regions

Domain67 – 11953bHLH

Natural variations

Alternative sequence1 – 3636Missing in isoform 2 and isoform 4.
VSP_012825
Alternative sequence1 – 2525MERVK…RRERE → MGKRGRPRKEARCEGAGLAP AAPPAVPPAVAAPQPPALPE DPAGAKPRCPFSDIFNTSEN SMEKHINTFLQNVQILLEAA SYLEQIEKENKK in isoform 3.
VSP_037943
Alternative sequence68 – 7710Missing in isoform 4.
VSP_043170
Natural variant1521E → A in prostate cancer. Ref.11
VAR_004499

Experimental info

Sequence conflict611S → T in AAA75508. Ref.1

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified October 17, 2006. Version 2.
Checksum: 82F83F499B907DD3

FASTA22826,062
        10         20         30         40         50         60 
MERVKMINVQ RLLEAAEFLE RRERECEHGY ASSFPSMPSP RLQHSKPPRR LSRAQKHSSG 

        70         80         90        100        110        120 
SSNTSTANRS THNELEKNRR AHLRLCLERL KVLIPLGPDC TRHTTLGLLN KAKAHIKKLE 

       130        140        150        160        170        180 
EAERKSQHQL ENLEREQRFL KWRLEQLQGP QEMERIRMDS IGSTISSDRS DSEREEIEVD 

       190        200        210        220 
VESTEFSHGE VDNISTTSIS DIDDHSSLPS IGSDEGYSSA SVKLSFTS 

« Hide

Isoform 2 [UniParc].

Checksum: 3D8B586EEA033591
Show »

FASTA19221,767
Isoform 3 [UniParc].

Checksum: CD3E9228C9DB7660
Show »

FASTA29532,820
Isoform 4 [UniParc].

Checksum: C6A82E8A3F12A152
Show »

FASTA18220,558

References

« Hide 'large scale' references
[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. expand/collapse author list , 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]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
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]"Mutation of the MXI1 gene in prostate cancer."
Eagle L.R., Yin X., Brothman A.R., Williams B.J., Atkin N.B., Prochownik E.V.
Nat. Genet. 9:249-255(1995) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT PROSTATE CANCER ALA-152.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
L07648 mRNA. Translation: AAA75508.1.
U32515 expand/collapse EMBL AC list , 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.
CCDSCCDS31284.1. [P50539-4]
CCDS7563.1. [P50539-3]
CCDS7564.2. [P50539-1]
PIRA45182.
RefSeqNP_001008541.1. NM_001008541.1. [P50539-4]
NP_005953.4. NM_005962.4. [P50539-1]
NP_569157.2. NM_130439.3. [P50539-3]
UniGeneHs.602078.
Hs.728542.

3D structure databases

ProteinModelPortalP50539.
SMRP50539. Positions 68-144.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid110686. 8 interactions.
DIPDIP-205N.
IntActP50539. 1 interaction.
MINTMINT-1480191.
STRING9606.ENSP00000331152.

PTM databases

PhosphoSiteP50539.

Polymorphism databases

DMDM116242666.

Proteomic databases

MaxQBP50539.
PaxDbP50539.
PRIDEP50539.

Protocols and materials databases

DNASU4601.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000239007; ENSP00000239007; ENSG00000119950. [P50539-1]
ENST00000332674; ENSP00000331152; ENSG00000119950. [P50539-3]
ENST00000361248; ENSP00000354606; ENSG00000119950. [P50539-4]
ENST00000369612; ENSP00000358625; ENSG00000119950. [P50539-2]
GeneID4601.
KEGGhsa:4601.
UCSCuc001kyy.3. human. [P50539-3]
uc001kyz.3. human. [P50539-4]
uc001kza.3. human. [P50539-1]

Organism-specific databases

CTD4601.
GeneCardsGC10P111957.
HGNCHGNC:7534. MXI1.
HPAHPA035319.
HPA056762.
MIM176807. phenotype.
600020. gene.
neXtProtNX_P50539.
PharmGKBPA31335.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG238408.
HOGENOMHOG000247060.
HOVERGENHBG006314.
KOK09114.
OMAGLQDPKP.
OrthoDBEOG76T9V0.
PhylomeDBP50539.
TreeFamTF315654.

Gene expression databases

ArrayExpressP50539.
BgeeP50539.
CleanExHS_MXI1.
GenevestigatorP50539.

Family and domain databases

Gene3D4.10.280.10. 1 hit.
InterProIPR011598. bHLH_dom.
[Graphical view]
PfamPF00010. HLH. 1 hit.
[Graphical view]
SMARTSM00353. HLH. 1 hit.
[Graphical view]
SUPFAMSSF47459. SSF47459. 1 hit.
PROSITEPS50888. BHLH. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSMXI1. human.
GeneWikiMXI1.
GenomeRNAi4601.
NextBio17692.
PROP50539.
SOURCESearch...

Entry information

Entry nameMXI1_HUMAN
AccessionPrimary (citable) accession number: P50539
Secondary accession number(s): B1ANN7 expand/collapse secondary AC list , D3DR25, D3DRA9, Q15887, Q6FHW2, Q96E53
Entry history
Integrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: October 17, 2006
Last modified: July 9, 2014
This is version 136 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 10

Human chromosome 10: entries, gene names and cross-references to MIM