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Protein

Max dimerization protein 3

Gene

MXD3

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-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

GO - Biological processi

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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 5

Organism-specific databases

EuPathDBiHostDB:ENSG00000213347.10.
HGNCiHGNC:14008. MXD3.

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.

PTM databases

iPTMnetiQ9BW11.
PhosphoSitePlusiQ9BW11.

Expressioni

Gene expression databases

BgeeiENSG00000213347.
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

Show more details

GO - Molecular functioni

Protein-protein interaction databases

BioGridi123658. 27 interactors.
IntActiQ9BW11. 10 interactors.
MINTiMINT-1468092.
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.
OMAiSHLLEWT.
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

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

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

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: October 25, 2017
This is version 128 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 chromosome 5
    Human chromosome 5: 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