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Protein

Max dimerization protein 1

Gene

MXD1

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

Functioni

Transcriptional repressor. MAD binds with MAX to form a sequence-specific DNA-binding protein complex which recognizes the core sequence 5'-CAC[GA]TG-3'. MAD thus antagonizes MYC transcriptional activity by competing for MAX.

GO - Molecular functioni

  • protein dimerization activity Source: InterPro
  • RNA polymerase II core promoter proximal region sequence-specific DNA binding Source: NTNU_SB
  • transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding Source: NTNU_SB
  • transcription cofactor activity Source: ProtInc
  • transcription corepressor activity Source: ProtInc
  • transcription factor activity, sequence-specific DNA binding Source: ProtInc

GO - Biological processi

  • cell proliferation Source: ProtInc
  • multicellular organism development Source: ProtInc
  • negative regulation of transcription from RNA polymerase II promoter Source: NTNU_SB
  • transcription, DNA-templated Source: UniProtKB-KW

Keywordsi

Molecular functionDNA-binding, Repressor
Biological processTranscription, Transcription regulation

Enzyme and pathway databases

SIGNORiQ05195.

Names & Taxonomyi

Protein namesi
Recommended name:
Max dimerization protein 1
Short name:
Max dimerizer 1
Alternative name(s):
Protein MAD
Gene namesi
Name:MXD1
Synonyms:MAD
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 2

Organism-specific databases

EuPathDBiHostDB:ENSG00000059728.10.
HGNCiHGNC:6761. MXD1.

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

DisGeNETi4084.
OpenTargetsiENSG00000059728.
PharmGKBiPA30520.

Polymorphism and mutation databases

BioMutaiMXD1.
DMDMi729978.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001272641 – 221Max dimerization protein 1Add BLAST221

Post-translational modificationi

Ubiquitinated by BIRC2/c-IAP1, leading to its subsequent degradation by the proteasome.1 Publication

Keywords - PTMi

Ubl conjugation

Proteomic databases

PaxDbiQ05195.
PeptideAtlasiQ05195.
PRIDEiQ05195.

PTM databases

iPTMnetiQ05195.
PhosphoSitePlusiQ05195.

Expressioni

Gene expression databases

BgeeiENSG00000059728.
CleanExiHS_MXD1.
ExpressionAtlasiQ05195. baseline and differential.
GenevisibleiQ05195. HS.

Organism-specific databases

HPAiHPA001599.

Interactioni

Subunit structurei

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

Binary interactionsi

WithEntry#Exp.IntActNotes
MAXP612443EBI-8833637,EBI-751711

GO - Molecular functioni

Protein-protein interaction databases

BioGridi110259. 24 interactors.
CORUMiQ05195.
DIPiDIP-204N.
ELMiQ05195.
IntActiQ05195. 6 interactors.
MINTiMINT-1510489.
STRINGi9606.ENSP00000264444.

Structurei

Secondary structure

1221
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi9 – 19Combined sources11
Helixi58 – 81Combined sources24
Beta strandi87 – 89Combined sources3
Helixi95 – 134Combined sources40

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1E91NMR-B8-20[»]
1G1ENMR-A6-21[»]
1NLWX-ray2.00A/D57-136[»]
1PD7NMR-B5-28[»]
1S5QNMR-A6-21[»]
ProteinModelPortaliQ05195.
SMRiQ05195.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ05195.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini56 – 108bHLHPROSITE-ProRule annotationAdd BLAST53

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi21 – 49Nuclear localization signalSequence analysisAdd BLAST29

Phylogenomic databases

eggNOGiENOG410IPD8. Eukaryota.
ENOG410XSF5. LUCA.
GeneTreeiENSGT00510000046360.
HOGENOMiHOG000247060.
HOVERGENiHBG006314.
InParanoidiQ05195.
KOiK09114.
OMAiDNHKTCL.
OrthoDBiEOG091G0QBK.
PhylomeDBiQ05195.
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 (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q05195-1) [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
MAAAVRMNIQ MLLEAADYLE RREREAEHGY ASMLPYNNKD RDALKRRNKS
60 70 80 90 100
KKNNSSSRST HNEMEKNRRA HLRLCLEKLK GLVPLGPESS RHTTLSLLTK
110 120 130 140 150
AKLHIKKLED CDRKAVHQID QLQREQRHLK RQLEKLGIER IRMDSIGSTV
160 170 180 190 200
SSERSDSDRE EIDVDVESTD YLTGDLDWSS SSVSDSDERG SMQSLGSDEG
210 220
YSSTSIKRIK LQDSHKACLG L
Length:221
Mass (Da):25,254
Last modified:February 1, 1995 - v1
Checksum:iB39FAEBFD708B6AB
GO
Isoform 2 (identifier: Q05195-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     58-67: Missing.

Note: No experimental confirmation available.
Show »
Length:211
Mass (Da):24,027
Checksum:i0C30C9CD1A02730B
GO

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_04307458 – 67Missing in isoform 2. 1 Publication10

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
L06895 mRNA. Translation: AAA36194.1.
CR536495 mRNA. Translation: CAG38734.1.
CR541692 mRNA. Translation: CAG46493.1.
AK312734 mRNA. Translation: BAG35605.1.
AC019206 Genomic DNA. Translation: AAY14867.1.
CH471053 Genomic DNA. Translation: EAW99839.1.
BC069377 mRNA. Translation: AAH69377.1.
BC069433 mRNA. Translation: AAH69433.1.
BC098396 mRNA. Translation: AAH98396.1.
BC113531 mRNA. Translation: AAI13532.1.
BC117260 mRNA. Translation: AAI17261.1.
BC143831 mRNA. Translation: AAI43832.1.
CCDSiCCDS1896.1. [Q05195-1]
CCDS56123.1. [Q05195-2]
PIRiA45181.
RefSeqiNP_001189442.1. NM_001202513.1.
NP_001189443.1. NM_001202514.1. [Q05195-2]
NP_002348.1. NM_002357.3. [Q05195-1]
UniGeneiHs.468908.

Genome annotation databases

EnsembliENST00000264444; ENSP00000264444; ENSG00000059728. [Q05195-1]
ENST00000540449; ENSP00000443935; ENSG00000059728. [Q05195-2]
GeneIDi4084.
KEGGihsa:4084.
UCSCiuc002sfy.4. human. [Q05195-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Entry informationi

Entry nameiMAD1_HUMAN
AccessioniPrimary (citable) accession number: Q05195
Secondary accession number(s): B2R6V8
, B7ZLI6, D6W5G2, Q6FI41
Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 1, 1995
Last sequence update: February 1, 1995
Last modified: October 25, 2017
This is version 163 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

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references