Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Nuclear protein MDM1

Gene

MDM1

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

Functioni

Microtubule-binding protein that negatively regulates centriole duplication. Binds to and stabilizes microtubules (PubMed:26337392).1 Publication

GO - Molecular functioni

  • microtubule binding Source: UniProtKB

GO - Biological processi

  • negative regulation of centriole replication Source: UniProtKB
  • retina development in camera-type eye Source: GO_Central
Complete GO annotation...

Enzyme and pathway databases

BioCyciZFISH:ENSG00000111554-MONOMER.

Names & Taxonomyi

Protein namesi
Recommended name:
Nuclear protein MDM1
Gene namesi
Name:MDM1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 12

Organism-specific databases

HGNCiHGNC:29917. MDM1.

Subcellular locationi

GO - Cellular componenti

  • centriole Source: UniProtKB
  • centrosome Source: UniProtKB
  • microtubule Source: UniProtKB-KW
  • nucleus Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Cytoskeleton, Microtubule, Nucleus

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi9 – 15SEYQRNF → AAAQRNA: Loss of microtubule binding, no loss of centrosomal localization, little effect on microtubule stability, loss of ability to block centriole reduplication and defective blocking of normal centriole duplication; when associated with 189-A--A-195; 232-A--A-238 and 306-A--A-312. 7
Mutagenesisi189 – 195SEYQRQF → AAAQRQA: Loss of microtubule binding, no loss of centrosomal localization, little effect on microtubule stability, loss of ability to block centriole reduplication and defective blocking of normal centriole duplication; when associated with 9-A--A-15; 232-A--A-238 and 306-A--A-312. 7
Mutagenesisi232 – 238TEYKRNF → AAAKRNA: Loss of microtubule binding, no loss of centrosomal localization, little effect on microtubule stability, loss of ability to block centriole reduplication and defective blocking of normal centriole duplication; when associated with 9-A--A-15; 189-A--A-195 and 306-A--A-312. 7
Mutagenesisi306 – 312SEYRAKF → AAARAKA: Loss of microtubule binding, no loss of centrosomal localization, little effect on microtubule stability, loss of ability to block centriole reduplication and defective blocking of normal centriole duplication; when associated with 9-A--A-15; 189-A--A-195 and 232-A--A-238. 7

Organism-specific databases

DisGeNETi56890.
OpenTargetsiENSG00000111554.
PharmGKBiPA134879752.

Polymorphism and mutation databases

BioMutaiMDM1.
DMDMi156632525.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002990591 – 714Nuclear protein MDM1Add BLAST714

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei83PhosphoserineCombined sources1
Modified residuei123PhosphoserineBy similarity1
Modified residuei126PhosphoserineBy similarity1
Modified residuei242PhosphoserineCombined sources1
Modified residuei263PhosphoserineCombined sources1
Modified residuei314PhosphoserineBy similarity1
Modified residuei560PhosphoserineBy similarity1
Modified residuei584PhosphoserineCombined sources1
Modified residuei648PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiQ8TC05.
PaxDbiQ8TC05.
PeptideAtlasiQ8TC05.
PRIDEiQ8TC05.

PTM databases

iPTMnetiQ8TC05.
PhosphoSitePlusiQ8TC05.

Expressioni

Gene expression databases

BgeeiENSG00000111554.
CleanExiHS_MDM1.
ExpressionAtlasiQ8TC05. baseline and differential.
GenevisibleiQ8TC05. HS.

Organism-specific databases

HPAiHPA040411.
HPA041594.

Interactioni

GO - Molecular functioni

  • microtubule binding Source: UniProtKB

Protein-protein interaction databases

BioGridi121220. 5 interactors.
IntActiQ8TC05. 5 interactors.
STRINGi9606.ENSP00000302537.

Structurei

3D structure databases

ProteinModelPortaliQ8TC05.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi9 – 15ST]-E-Y-X(3)-F motif 1; required for efficient microtubule binding and stabilization1 Publication7
Motifi189 – 195ST]-E-Y-X(3)-F motif 2; required for efficient microtubule binding and stabilization1 Publication7
Motifi232 – 238ST]-E-Y-X(3)-F motif 3; required for efficient microtubule binding and stabilization1 Publication7
Motifi306 – 312ST]-E-Y-X(3)-F motif 4; required for efficient microtubule binding and stabilization1 Publication7

Sequence similaritiesi

Belongs to the MDM1 family.Curated

Phylogenomic databases

eggNOGiENOG410II1Y. Eukaryota.
ENOG410Y0E2. LUCA.
GeneTreeiENSGT00390000004106.
HOGENOMiHOG000113507.
HOVERGENiHBG108124.
InParanoidiQ8TC05.
KOiK17886.
OMAiHQRLGKV.
OrthoDBiEOG091G0NPN.
PhylomeDBiQ8TC05.
TreeFamiTF331015.

Family and domain databases

InterProiIPR029136. MDM1.
[Graphical view]
PANTHERiPTHR32078:SF1. PTHR32078:SF1. 1 hit.
PfamiPF15501. MDM1. 1 hit.
[Graphical view]

Sequences (4)i

Sequence statusi: Complete.

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

Isoform 1 (identifier: Q8TC05-1) [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
MPVRFKGLSE YQRNFLWKKS YLSESCNSSV GRKYPWAGLR SDQLGITKEP
60 70 80 90 100
SFISKRRVPY HDPQISKSLE WNGAISESNV VASPEPEAPE TPKSQEAEQK
110 120 130 140 150
DVTQERVHSL EASRVPKRTR SHSADSRAEG ASDVENNEGV TNHTPVNENV
160 170 180 190 200
ELEHSTKVLS ENVDNGLDRL LRKKAGLTVV PSYNALRNSE YQRQFVWKTS
210 220 230 240 250
KETAPAFAAN QVFHNKSQFV PPFKGNSVIH ETEYKRNFKG LSPVKEPKLR
260 270 280 290 300
NDLRENRNLE TVSPERKSNK IDDRLKLEAE MELKDLHQPK RKLTPWKHQR
310 320 330 340 350
LGKVNSEYRA KFLSPAQYLY KAGAWTHVKG NMPNQVKELR EKAEFYRKRV
360 370 380 390 400
QGTHFSRDHL NQILSDSNCC WDVSSTTSSE GTVSSNIRAL DLAGDPTSHK
410 420 430 440 450
TLQKCPSTEP EEKGNIVEEQ PQKNTTEKLG VSAPTIPVRR RLAWDTENTS
460 470 480 490 500
EDVQKQPGEK EEEDDNEEEG DRKTGKQAFM GEQEKLDVRE KSKADKMKEG
510 520 530 540 550
SDSSVSSEKG GRLPTPKLRE LGGIQRTHHD LTTPAVGGAV LVSPSKMKPP
560 570 580 590 600
APEQRKRMTS QDCLETSKND FTKKESRAVS LLTSPAAGIK TVDPLPLRED
610 620 630 640 650
SEDNIHKFAE ATLPVSKIPK YPTNPPGQLP SPPHVPSYWH PSRRIQGSLR
660 670 680 690 700
DPEFQHNVGK ARMNNLQLPQ HEAFNDEDED RLSEISARSA ASSLRAFQTL
710
ARAKKRKENF WGKT
Length:714
Mass (Da):80,735
Last modified:August 21, 2007 - v2
Checksum:i301E3A89A5BFF13B
GO
Isoform 2 (identifier: Q8TC05-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     167-222: LDRLLRKKAG...FHNKSQFVPP → VGIFTAFLFK...NRLLTLVIVN
     223-714: Missing.

Show »
Length:222
Mass (Da):25,069
Checksum:i0CC6F35EADC1F98D
GO
Isoform 3 (identifier: Q8TC05-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     46-69: ITKEPSFISKRRVPYHDPQISKSL → NQGRCRTKIQHSDISSLLILVCST
     70-714: Missing.

Show »
Length:69
Mass (Da):7,926
Checksum:i51190BA06D5CD344
GO
Isoform 4 (identifier: Q8TC05-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     167-211: Missing.
     335-335: Q → QGSLNAMWYAE

Note: No experimental confirmation available.
Show »
Length:679
Mass (Da):76,709
Checksum:i0C31971CCCC30AFD
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti42D → Y in BAG59777 (PubMed:14702039).Curated1
Sequence conflicti458G → E in BAG59777 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_034782103T → I.1 PublicationCorresponds to variant rs962976dbSNPEnsembl.1
Natural variantiVAR_034783383V → I.Corresponds to variant rs17224810dbSNPEnsembl.1
Natural variantiVAR_034784489R → H.2 PublicationsCorresponds to variant rs2306393dbSNPEnsembl.1
Natural variantiVAR_034785552P → L.1 PublicationCorresponds to variant rs2306392dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_02754446 – 69ITKEP…ISKSL → NQGRCRTKIQHSDISSLLIL VCST in isoform 3. 1 PublicationAdd BLAST24
Alternative sequenceiVSP_02754570 – 714Missing in isoform 3. 1 PublicationAdd BLAST645
Alternative sequenceiVSP_027546167 – 222LDRLL…QFVPP → VGIFTAFLFKSIEFFIGFIV ISVILHFVFQNFPLLFSCLM SIRIVDNRLLTLVIVN in isoform 2. 1 PublicationAdd BLAST56
Alternative sequenceiVSP_046400167 – 211Missing in isoform 4. 1 PublicationAdd BLAST45
Alternative sequenceiVSP_027547223 – 714Missing in isoform 2. 1 PublicationAdd BLAST492
Alternative sequenceiVSP_046401335Q → QGSLNAMWYAE in isoform 4. 1 Publication1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF267851 mRNA. Translation: AAF78952.1.
AK297311 mRNA. Translation: BAG59777.1.
AC022511 Genomic DNA. No translation available.
BC022042 mRNA. Translation: AAH22042.1.
BC028355 mRNA. Translation: AAH28355.1.
AF007130 mRNA. Translation: AAC19149.1.
CCDSiCCDS44938.1. [Q8TC05-2]
CCDS55841.1. [Q8TC05-4]
CCDS55842.1. [Q8TC05-3]
CCDS8983.1. [Q8TC05-1]
RefSeqiNP_001191957.1. NM_001205028.1. [Q8TC05-4]
NP_001191958.1. NM_001205029.1. [Q8TC05-3]
NP_059136.2. NM_017440.4. [Q8TC05-1]
NP_064513.1. NM_020128.2. [Q8TC05-2]
UniGeneiHs.655702.

Genome annotation databases

EnsembliENST00000303145; ENSP00000302537; ENSG00000111554. [Q8TC05-1]
ENST00000393543; ENSP00000377175; ENSG00000111554. [Q8TC05-3]
ENST00000411698; ENSP00000391006; ENSG00000111554. [Q8TC05-4]
ENST00000430606; ENSP00000408694; ENSG00000111554. [Q8TC05-2]
GeneIDi56890.
KEGGihsa:56890.
UCSCiuc001stz.3. human. [Q8TC05-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF267851 mRNA. Translation: AAF78952.1.
AK297311 mRNA. Translation: BAG59777.1.
AC022511 Genomic DNA. No translation available.
BC022042 mRNA. Translation: AAH22042.1.
BC028355 mRNA. Translation: AAH28355.1.
AF007130 mRNA. Translation: AAC19149.1.
CCDSiCCDS44938.1. [Q8TC05-2]
CCDS55841.1. [Q8TC05-4]
CCDS55842.1. [Q8TC05-3]
CCDS8983.1. [Q8TC05-1]
RefSeqiNP_001191957.1. NM_001205028.1. [Q8TC05-4]
NP_001191958.1. NM_001205029.1. [Q8TC05-3]
NP_059136.2. NM_017440.4. [Q8TC05-1]
NP_064513.1. NM_020128.2. [Q8TC05-2]
UniGeneiHs.655702.

3D structure databases

ProteinModelPortaliQ8TC05.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi121220. 5 interactors.
IntActiQ8TC05. 5 interactors.
STRINGi9606.ENSP00000302537.

PTM databases

iPTMnetiQ8TC05.
PhosphoSitePlusiQ8TC05.

Polymorphism and mutation databases

BioMutaiMDM1.
DMDMi156632525.

Proteomic databases

MaxQBiQ8TC05.
PaxDbiQ8TC05.
PeptideAtlasiQ8TC05.
PRIDEiQ8TC05.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000303145; ENSP00000302537; ENSG00000111554. [Q8TC05-1]
ENST00000393543; ENSP00000377175; ENSG00000111554. [Q8TC05-3]
ENST00000411698; ENSP00000391006; ENSG00000111554. [Q8TC05-4]
ENST00000430606; ENSP00000408694; ENSG00000111554. [Q8TC05-2]
GeneIDi56890.
KEGGihsa:56890.
UCSCiuc001stz.3. human. [Q8TC05-1]

Organism-specific databases

CTDi56890.
DisGeNETi56890.
GeneCardsiMDM1.
HGNCiHGNC:29917. MDM1.
HPAiHPA040411.
HPA041594.
MIMi613813. gene.
neXtProtiNX_Q8TC05.
OpenTargetsiENSG00000111554.
PharmGKBiPA134879752.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410II1Y. Eukaryota.
ENOG410Y0E2. LUCA.
GeneTreeiENSGT00390000004106.
HOGENOMiHOG000113507.
HOVERGENiHBG108124.
InParanoidiQ8TC05.
KOiK17886.
OMAiHQRLGKV.
OrthoDBiEOG091G0NPN.
PhylomeDBiQ8TC05.
TreeFamiTF331015.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000111554-MONOMER.

Miscellaneous databases

GenomeRNAii56890.
PROiQ8TC05.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000111554.
CleanExiHS_MDM1.
ExpressionAtlasiQ8TC05. baseline and differential.
GenevisibleiQ8TC05. HS.

Family and domain databases

InterProiIPR029136. MDM1.
[Graphical view]
PANTHERiPTHR32078:SF1. PTHR32078:SF1. 1 hit.
PfamiPF15501. MDM1. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiMDM1_HUMAN
AccessioniPrimary (citable) accession number: Q8TC05
Secondary accession number(s): B4DM65
, E7EPQ3, O43406, Q8WTV9, Q9NR04
Entry historyi
Integrated into UniProtKB/Swiss-Prot: August 21, 2007
Last sequence update: August 21, 2007
Last modified: November 30, 2016
This is version 110 of the entry and version 2 of the sequence. [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 12
    Human chromosome 12: 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
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.