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UniProtKB - Q9BW11 (MAD3_HUMAN)

Protein

Max dimerization protein 3

Gene

MXD3

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

Functioni

Transcriptional repressor. Binds with MAX to form a sequence-specific DNA-binding protein complex which recognizes the core sequence 5'-CAC[GA]TG-3'. Antagonizes MYC transcriptional activity by competing for MAX and suppresses MYC dependent cell transformation (By similarity).By similarity

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

Keywordsi

Molecular functionDNA-binding, Repressor
Biological processTranscription, Transcription regulation

Enzyme and pathway databases

SIGNORiQ9BW11

Names & Taxonomyi

Protein namesi
Recommended name:
Max dimerization protein 3
Short name:
Max dimerizer 3
Alternative name(s):
Class C basic helix-loop-helix protein 13
Short name:
bHLHc13
Max-associated protein 3
Max-interacting transcriptional repressor MAD3
Myx
Gene namesi
Name:MXD3
Synonyms:BHLHC13, MAD3
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 5

Organism-specific databases

EuPathDBiHostDB:ENSG00000213347.10
HGNCiHGNC:14008 MXD3
MIMi609450 gene
neXtProtiNX_Q9BW11

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

DisGeNETi83463
OpenTargetsiENSG00000213347
PharmGKBiPA134892226

Polymorphism and mutation databases

BioMutaiMXD3
DMDMi74733390

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002537071 – 206Max dimerization protein 3Add BLAST206

Proteomic databases

EPDiQ9BW11
PaxDbiQ9BW11
PeptideAtlasiQ9BW11
PRIDEiQ9BW11
ProteomicsDBi79247
79248 [Q9BW11-2]
79249 [Q9BW11-3]

PTM databases

iPTMnetiQ9BW11
PhosphoSitePlusiQ9BW11

Expressioni

Gene expression databases

BgeeiENSG00000213347 Expressed in 173 organ(s), highest expression level in blood
CleanExiHS_MXD3
ExpressionAtlasiQ9BW11 baseline and differential
GenevisibleiQ9BW11 HS

Organism-specific databases

HPAiHPA070111

Interactioni

Subunit structurei

Efficient DNA binding requires dimerization with another bHLH protein. Binds DNA as a heterodimer with MAX. Interacts with SIN3A AND SIN3B. Interacts with RNF17 (By similarity).By similarity

Binary interactionsi

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGridi123658, 28 interactors
IntActiQ9BW11, 10 interactors
STRINGi9606.ENSP00000401867

Structurei

3D structure databases

ProteinModelPortaliQ9BW11
SMRiQ9BW11
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini57 – 109bHLHPROSITE-ProRule annotationAdd BLAST53

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni8 – 25Interaction with SIN3A and SIN3BBy similarityAdd BLAST18

Phylogenomic databases

eggNOGiENOG410IPD7 Eukaryota
ENOG410YHJP LUCA
GeneTreeiENSGT00510000046360
HOGENOMiHOG000247060
HOVERGENiHBG006314
InParanoidiQ9BW11
KOiK09114
OMAiHLLEWTK
OrthoDBiEOG091G0QBK
PhylomeDBiQ9BW11
TreeFamiTF315654

Family and domain databases

CDDicd00083 HLH, 1 hit
Gene3Di4.10.280.10, 1 hit
InterProiView protein in InterPro
IPR011598 bHLH_dom
IPR036638 HLH_DNA-bd_sf
PfamiView protein in Pfam
PF00010 HLH, 1 hit
SMARTiView protein in SMART
SM00353 HLH, 1 hit
SUPFAMiSSF47459 SSF47459, 1 hit
PROSITEiView protein in PROSITE
PS50888 BHLH, 1 hit

Sequences (4+)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 4 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9BW11-1) [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
MEPLASNIQV LLQAAEFLER REREAEHGYA SLCPHRSPGP IHRRKKRPPQ 
        60         70         80         90        100
APGAQDSGRS VHNELEKRRR AQLKRCLERL KQQMPLGADC ARYTTLSLLR 
       110        120        130        140        150
RARMHIQKLE DQEQRARQLK ERLRSKQQSL QRQLEQLRGL AGAAERERLR 
       160        170        180        190        200
ADSLDSSGLS SERSDSDQEE LEVDVESLVF GGEAELLRGF VAGQEHSYSH 

GGGAWL
Length:206
Mass (Da):23,477
Last modified:June 1, 2001 - v1
Checksum:i2C49E02C10F9FC2E
GO
Isoform 2 (identifier: Q9BW11-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     60-68: Missing.

Note: No experimental confirmation available.
Show »
Length:197
Mass (Da):22,384
Checksum:i25B97E27D10D5CC2
GO
Isoform 3 (identifier: Q9BW11-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     169-206: EELEVDVESLVFGGEAELLRGFVAGQEHSYSHGGGAWL → VLPNENGGTPNHRPTGRGNNISSHH

Note: No experimental confirmation available.
Show »
Length:193
Mass (Da):22,065
Checksum:iFBA651F2D547B225
GO
Isoform 4 (identifier: Q9BW11-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     169-206: EELEVDVESL...SYSHGGGAWL → GECPEAEGLC...GRGNNISSHH

Note: No experimental confirmation available.
Show »
Length:388
Mass (Da):42,821
Checksum:iB340733F42A5F00E
GO

Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
D6RED4D6RED4_HUMAN
Max dimerization protein 3
MXD3
124Annotation score:
D6RD21D6RD21_HUMAN
Max dimerization protein 3
MXD3
74Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti88A → G in AAP97233 (Ref. 1) Curated1
Sequence conflicti129S → G in BAD96299 (Ref. 3) Curated1
Sequence conflicti134 – 135LE → WM in AAP97233 (Ref. 1) Curated2
Sequence conflicti155D → N in AAP97233 (Ref. 1) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_049546114Q → H. Corresponds to variant dbSNP:rs35691394Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_02110960 – 68Missing in isoform 2. 1 Publication9
Alternative sequenceiVSP_021110169 – 206EELEV…GGAWL → VLPNENGGTPNHRPTGRGNN ISSHH in isoform 3. 1 PublicationAdd BLAST38
Alternative sequenceiVSP_057220169 – 206EELEV…GGAWL → GECPEAEGLCGPRGEPGLLT GPLPAQRSWRWMWRAWCLGV RPSCCGASSPARSTATRTAA APGYDVPHPGRASALYSCQA HLPGRSPPQAFRAARSHLLE WTKRTLVWEQVLPKHPAAGC QAGPLEGKGQDSSGPPWTPA GQAAWARAQAFGSAAPKGTG SLLGLFPSWTRPPAFASHKL YSIFIKSLFHNFPSIVLPNE NGGTPNHRPTGRGNNISSHH in isoform 4. 1 PublicationAdd BLAST38

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF114834 mRNA Translation: AAP97233.1
AK057034 mRNA Translation: BAB71352.1
AK303397 mRNA Translation: BAG64453.1
AK316468 mRNA Translation: BAH14839.1
AK222579 mRNA Translation: BAD96299.1
AL833959 mRNA Translation: CAD38809.2
AC146507 Genomic DNA No translation available.
BC000745 mRNA Translation: AAH00745.1
CCDSiCCDS4416.1 [Q9BW11-1]
CCDS47347.1 [Q9BW11-3]
RefSeqiNP_001136407.1, NM_001142935.1 [Q9BW11-3]
NP_112590.1, NM_031300.3 [Q9BW11-1]
UniGeneiHs.743332

Genome annotation databases

EnsembliENST00000423571; ENSP00000389716; ENSG00000213347 [Q9BW11-4]
ENST00000427908; ENSP00000416921; ENSG00000213347 [Q9BW11-3]
ENST00000439742; ENSP00000401867; ENSG00000213347 [Q9BW11-1]
ENST00000513063; ENSP00000421463; ENSG00000213347 [Q9BW11-1]
GeneIDi83463
KEGGihsa:83463
UCSCiuc003mga.4 human [Q9BW11-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF114834 mRNA Translation: AAP97233.1
AK057034 mRNA Translation: BAB71352.1
AK303397 mRNA Translation: BAG64453.1
AK316468 mRNA Translation: BAH14839.1
AK222579 mRNA Translation: BAD96299.1
AL833959 mRNA Translation: CAD38809.2
AC146507 Genomic DNA No translation available.
BC000745 mRNA Translation: AAH00745.1
CCDSiCCDS4416.1 [Q9BW11-1]
CCDS47347.1 [Q9BW11-3]
RefSeqiNP_001136407.1, NM_001142935.1 [Q9BW11-3]
NP_112590.1, NM_031300.3 [Q9BW11-1]
UniGeneiHs.743332

3D structure databases

ProteinModelPortaliQ9BW11
SMRiQ9BW11
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi123658, 28 interactors
IntActiQ9BW11, 10 interactors
STRINGi9606.ENSP00000401867

PTM databases

iPTMnetiQ9BW11
PhosphoSitePlusiQ9BW11

Polymorphism and mutation databases

BioMutaiMXD3
DMDMi74733390

Proteomic databases

EPDiQ9BW11
PaxDbiQ9BW11
PeptideAtlasiQ9BW11
PRIDEiQ9BW11
ProteomicsDBi79247
79248 [Q9BW11-2]
79249 [Q9BW11-3]

Protocols and materials databases

DNASUi83463
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000423571; ENSP00000389716; ENSG00000213347 [Q9BW11-4]
ENST00000427908; ENSP00000416921; ENSG00000213347 [Q9BW11-3]
ENST00000439742; ENSP00000401867; ENSG00000213347 [Q9BW11-1]
ENST00000513063; ENSP00000421463; ENSG00000213347 [Q9BW11-1]
GeneIDi83463
KEGGihsa:83463
UCSCiuc003mga.4 human [Q9BW11-1]

Organism-specific databases

CTDi83463
DisGeNETi83463
EuPathDBiHostDB:ENSG00000213347.10
GeneCardsiMXD3
HGNCiHGNC:14008 MXD3
HPAiHPA070111
MIMi609450 gene
neXtProtiNX_Q9BW11
OpenTargetsiENSG00000213347
PharmGKBiPA134892226
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IPD7 Eukaryota
ENOG410YHJP LUCA
GeneTreeiENSGT00510000046360
HOGENOMiHOG000247060
HOVERGENiHBG006314
InParanoidiQ9BW11
KOiK09114
OMAiHLLEWTK
OrthoDBiEOG091G0QBK
PhylomeDBiQ9BW11
TreeFamiTF315654

Enzyme and pathway databases

SIGNORiQ9BW11

Miscellaneous databases

ChiTaRSiMXD3 human
GenomeRNAii83463
PROiPR:Q9BW11
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000213347 Expressed in 173 organ(s), highest expression level in blood
CleanExiHS_MXD3
ExpressionAtlasiQ9BW11 baseline and differential
GenevisibleiQ9BW11 HS

Family and domain databases

CDDicd00083 HLH, 1 hit
Gene3Di4.10.280.10, 1 hit
InterProiView protein in InterPro
IPR011598 bHLH_dom
IPR036638 HLH_DNA-bd_sf
PfamiView protein in Pfam
PF00010 HLH, 1 hit
SMARTiView protein in SMART
SM00353 HLH, 1 hit
SUPFAMiSSF47459 SSF47459, 1 hit
PROSITEiView protein in PROSITE
PS50888 BHLH, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiMAD3_HUMAN
AccessioniPrimary (citable) accession number: Q9BW11
Secondary accession number(s): B4E0J1
, Q53HK1, Q7Z4Y0, Q8NDJ7, Q96ME3
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 17, 2006
Last sequence update: June 1, 2001
Last modified: November 7, 2018
This is version 136 of the entry and version 1 of the sequence. See 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 entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human chromosome 5
    Human chromosome 5: entries, gene names and cross-references to MIM
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