Q7ZUW7

SS
Gene name
mdm4 (mdmx)
Protein name
Protein Mdm4
Names
Double minute 4 protein, Mdm2-like p53-binding protein, Protein Mdmx, p53-binding protein Mdm4
Species
Danio rerio (Zebrafish) (Brachydanio rerio)
KEGG Pathway
EC number
Protein Class

Descriptions

MDM4 is a homologous protein that binds to p53 and regulates its activity. Intrinsically disordered region constitute an inhibitory module. It competes with the p53TAD for binding to the NTD of MDM4, thus lowering the affinity of MDMX for p53. Efficient binding of MDM4 to p53 requires a mechanism to relieve the allosteric self-inhibition.

Autoinhibitory domains (AIDs)

186-206 (Tryptohpan-rich segment) SS

Target domain

22-105 (SWIB/MDM2 domain)

Relief mechanism

Partner binding

Assay

Accessory elements

No accessory elements

References

Autoinhibited structure

Activated structure

11 structures for Q7ZUW7

Entry ID Method Resolution Chain Position Source
2Z5S X-ray 230 A M/N/O 15-140 PDB
2Z5T X-ray 230 A M/N/O 15-140 PDB
3DAC X-ray 180 A A/M 15-129 PDB
4N5T X-ray 170 A A 17-106 PDB
6V4E X-ray 162 A A/B 15-106 PDB
6V4F X-ray 135 A A 15-106 PDB
6V4G X-ray 125 A A 15-106 PDB
6V4H X-ray 153 A A/C 15-106 PDB
8EBK X-ray 129 A A 2-113 PDB
8GJS X-ray 175 A A 17-106 PDB
AF-Q7ZUW7-F1 Predicted AlphaFoldDB

No variants for Q7ZUW7

Variant ID(s) Position Change Description Diseaes Association Provenance
No variants for Q7ZUW7

2 associated diseases with Q7ZUW7

[MIM: 616890]: Split-foot malformation with mesoaxial polydactyly (SFMMP)

An autosomal recessive disorder characterized by a split-foot defect, mesoaxial polydactyly, nail abnormalities of the hands, and sensorineural hearing loss. {ECO:0000269|PubMed:26755636, ECO:0000269|PubMed:32266845}. Note=The disease is caused by variants affecting the gene represented in this entry.

[MIM: 617760]: Myopathy, centronuclear, 6, with fiber-type disproportion (CNM6)

A form of centronuclear myopathy, a congenital muscle disorder characterized by progressive muscular weakness and wasting involving mainly limb girdle, trunk, and neck muscles. It may also affect distal muscles. Weakness may be present during childhood or adolescence or may not become evident until the third decade of life. Ptosis is a frequent clinical feature. The most prominent histopathologic features include high frequency of centrally located nuclei in muscle fibers not secondary to regeneration, radial arrangement of sarcoplasmic strands around the central nuclei, and predominance and hypotrophy of type 1 fibers. CNM6 is an autosomal recessive, slowly progressive form with onset in infancy or early childhood. {ECO:0000269|PubMed:27816943, ECO:0000269|PubMed:30237576}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID
  • An autosomal recessive disorder characterized by a split-foot defect, mesoaxial polydactyly, nail abnormalities of the hands, and sensorineural hearing loss. {ECO:0000269|PubMed:26755636, ECO:0000269|PubMed:32266845}. Note=The disease is caused by variants affecting the gene represented in this entry.
  • A form of centronuclear myopathy, a congenital muscle disorder characterized by progressive muscular weakness and wasting involving mainly limb girdle, trunk, and neck muscles. It may also affect distal muscles. Weakness may be present during childhood or adolescence or may not become evident until the third decade of life. Ptosis is a frequent clinical feature. The most prominent histopathologic features include high frequency of centrally located nuclei in muscle fibers not secondary to regeneration, radial arrangement of sarcoplasmic strands around the central nuclei, and predominance and hypotrophy of type 1 fibers. CNM6 is an autosomal recessive, slowly progressive form with onset in infancy or early childhood. {ECO:0000269|PubMed:27816943, ECO:0000269|PubMed:30237576}. Note=The disease is caused by variants affecting the gene represented in this entry.

4 regional properties for Q7ZUW7

Type Name Position InterPro Accession
domain Protein kinase domain 16 - 277 IPR000719
domain Serine-threonine/tyrosine-protein kinase, catalytic domain 17 - 260 IPR001245
domain Sterile alpha motif domain 336 - 410 IPR001660
active_site Serine/threonine-protein kinase, active site 129 - 141 IPR008271

Functions

Description
EC Number
Subcellular Localization
  • Nucleus
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

1 GO annotations of cellular component

Name Definition
nucleus A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.

2 GO annotations of molecular function

Name Definition
metal ion binding Binding to a metal ion.
p53 binding Binding to one of the p53 family of proteins.

3 GO annotations of biological process

Name Definition
negative regulation of apoptotic process Any process that stops, prevents, or reduces the frequency, rate or extent of cell death by apoptotic process.
regulation of cell cycle Any process that modulates the rate or extent of progression through the cell cycle.
regulation of transcription by RNA polymerase II Any process that modulates the frequency, rate or extent of transcription mediated by RNA polymerase II.

5 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q2HJ21 MDM4 Protein Mdm4 Bos taurus (Bovine) SS
E1C4B0 MDM4 Double minute 4 protein Gallus gallus (Chicken) SS
O15151 MDM4 Protein Mdm4 Homo sapiens (Human) EV
O35618 Mdm4 Protein Mdm4 Mus musculus (Mouse) SS
Q5XIN1 Mdm4 Protein Mdm4 Rattus norvegicus (Rat) SS
10 20 30 40 50 60
MTSLASSSQL PGSCRTLPGE GTQVHPRAPL LQILKVAGAQ EEVFTLKEVM HYLGQYIMMK
70 80 90 100 110 120
QLYDKQRQHI VHCHDDPLGE LLEVGSFSVK NPSPVYEMLK RNLVILNNSD AAKNLSVGKD
130 140 150 160 170 180
SNESPSEDPG QVSSGSINSA QPLIAGSSST GTTQSCSQRR PRDPDEDSSD GLPRSACKRP
190 200 210 220 230 240
KLDVTLEEWD LSGLPWWFLG NLRSNYTRRS NGSTDIHTNQ LSPGQDEDTA IVSDTTDDLW
250 260 270 280 290 300
FLNEAESEQV SVEIKEAVLE QGSDGESPHE DEDTGKDSKD DGKMQEEQEE DSQCLSDDTD
310 320 330 340 350 360
TEISTQDAWQ CSECRKFNTP LQRYCMRCWA LRKDWYKDCP RLVHSISVPD IPACSSRPER
370 380 390 400 410 420
DEDEEEEDDD GIDMPDCLRT VSDPVVLPSH RVSRNIPSSS ASSSKGKGPS QIHHHFQETS
430 440 450 460 470 480
EGDSQDTLDM ETEYQPEALL EPCKLCRVRP RNGNIIHGRT AHLITCFPCA RKLHKFHAPC
490
PGCGQVIQKV IKTFIA