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Q8TC05 (MDM1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified March 19, 2014. Version 84. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Nuclear protein MDM1
Gene names
Name:MDM1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length714 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

Subcellular location

Nucleus By similarity.

Sequence similarities

Belongs to the MDM1 family.

Ontologies

Keywords
   Cellular componentNucleus
   Coding sequence diversityAlternative splicing
Polymorphism
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processretina development in camera-type eye

Inferred from electronic annotation. Source: Ensembl

   Cellular_componentnucleus

Inferred from electronic annotation. Source: UniProtKB-SubCell

Complete GO annotation...

Alternative products

This entry describes 4 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q8TC05-1)

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.
Isoform 2 (identifier: Q8TC05-2)

The sequence of this isoform differs from the canonical sequence as follows:
     167-222: LDRLLRKKAG...FHNKSQFVPP → VGIFTAFLFK...NRLLTLVIVN
     223-714: Missing.
Isoform 3 (identifier: Q8TC05-3)

The sequence of this isoform differs from the canonical sequence as follows:
     46-69: ITKEPSFISKRRVPYHDPQISKSL → NQGRCRTKIQHSDISSLLILVCST
     70-714: Missing.
Isoform 4 (identifier: Q8TC05-4)

The sequence of this isoform differs from the canonical sequence as follows:
     167-211: Missing.
     335-335: Q → QGSLNAMWYAE
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 714714Nuclear protein MDM1
PRO_0000299059

Natural variations

Alternative sequence46 – 6924ITKEP…ISKSL → NQGRCRTKIQHSDISSLLIL VCST in isoform 3.
VSP_027544
Alternative sequence70 – 714645Missing in isoform 3.
VSP_027545
Alternative sequence167 – 22256LDRLL…QFVPP → VGIFTAFLFKSIEFFIGFIV ISVILHFVFQNFPLLFSCLM SIRIVDNRLLTLVIVN in isoform 2.
VSP_027546
Alternative sequence167 – 21145Missing in isoform 4.
VSP_046400
Alternative sequence223 – 714492Missing in isoform 2.
VSP_027547
Alternative sequence3351Q → QGSLNAMWYAE in isoform 4.
VSP_046401
Natural variant1031T → I. Ref.4
Corresponds to variant rs962976 [ dbSNP | Ensembl ].
VAR_034782
Natural variant3831V → I.
Corresponds to variant rs17224810 [ dbSNP | Ensembl ].
VAR_034783
Natural variant4891R → H. Ref.4 Ref.5
Corresponds to variant rs2306393 [ dbSNP | Ensembl ].
VAR_034784
Natural variant5521P → L. Ref.4
Corresponds to variant rs2306392 [ dbSNP | Ensembl ].
VAR_034785

Experimental info

Sequence conflict421D → Y in BAG59777. Ref.2
Sequence conflict4581G → E in BAG59777. Ref.2

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified August 21, 2007. Version 2.
Checksum: 301E3A89A5BFF13B

FASTA71480,735
        10         20         30         40         50         60 
MPVRFKGLSE YQRNFLWKKS YLSESCNSSV GRKYPWAGLR SDQLGITKEP SFISKRRVPY 

        70         80         90        100        110        120 
HDPQISKSLE WNGAISESNV VASPEPEAPE TPKSQEAEQK DVTQERVHSL EASRVPKRTR 

       130        140        150        160        170        180 
SHSADSRAEG ASDVENNEGV TNHTPVNENV ELEHSTKVLS ENVDNGLDRL LRKKAGLTVV 

       190        200        210        220        230        240 
PSYNALRNSE YQRQFVWKTS KETAPAFAAN QVFHNKSQFV PPFKGNSVIH ETEYKRNFKG 

       250        260        270        280        290        300 
LSPVKEPKLR NDLRENRNLE TVSPERKSNK IDDRLKLEAE MELKDLHQPK RKLTPWKHQR 

       310        320        330        340        350        360 
LGKVNSEYRA KFLSPAQYLY KAGAWTHVKG NMPNQVKELR EKAEFYRKRV QGTHFSRDHL 

       370        380        390        400        410        420 
NQILSDSNCC WDVSSTTSSE GTVSSNIRAL DLAGDPTSHK TLQKCPSTEP EEKGNIVEEQ 

       430        440        450        460        470        480 
PQKNTTEKLG VSAPTIPVRR RLAWDTENTS EDVQKQPGEK EEEDDNEEEG DRKTGKQAFM 

       490        500        510        520        530        540 
GEQEKLDVRE KSKADKMKEG SDSSVSSEKG GRLPTPKLRE LGGIQRTHHD LTTPAVGGAV 

       550        560        570        580        590        600 
LVSPSKMKPP APEQRKRMTS QDCLETSKND FTKKESRAVS LLTSPAAGIK TVDPLPLRED 

       610        620        630        640        650        660 
SEDNIHKFAE ATLPVSKIPK YPTNPPGQLP SPPHVPSYWH PSRRIQGSLR DPEFQHNVGK 

       670        680        690        700        710 
ARMNNLQLPQ HEAFNDEDED RLSEISARSA ASSLRAFQTL ARAKKRKENF WGKT 

« Hide

Isoform 2 [UniParc].

Checksum: 0CC6F35EADC1F98D
Show »

FASTA22225,069
Isoform 3 [UniParc].

Checksum: 51190BA06D5CD344
Show »

FASTA697,926
Isoform 4 [UniParc].

Checksum: 0C31971CCCC30AFD
Show »

FASTA67976,709

References

« Hide 'large scale' references
[1]"Cloning, mapping and characterization of a novel human MDM1 protein."
Yang Q.S., Ying K., Wu H., Xia F., Xie Y., Mao Y.M.
Submitted (MAY-2000) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
[2]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 4).
Tissue: Brain.
[3]"The finished DNA sequence of human chromosome 12."
Scherer S.E., Muzny D.M., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J., Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R. expand/collapse author list , Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Montgomery K.T., Morgan M.B., Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Lovering R.C., Wheeler D.A., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., Clerc-Blankenburg K.P., Davis C., Delgado O., Dinh H.H., Draper H., Gonzalez-Garay M.L., Havlak P., Jackson L.R., Jacob L.S., Kelly S.H., Li L., Li Z., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Pasternak S., Perez L.M., Plopper F.J.H., Santibanez J., Shen H., Tabor P.E., Verduzco D., Waldron L., Wang Q., Williams G.A., Zhang J., Zhou J., Allen C.C., Amin A.G., Anyalebechi V., Bailey M., Barbaria J.A., Bimage K.E., Bryant N.P., Burch P.E., Burkett C.E., Burrell K.L., Calderon E., Cardenas V., Carter K., Casias K., Cavazos I., Cavazos S.R., Ceasar H., Chacko J., Chan S.N., Chavez D., Christopoulos C., Chu J., Cockrell R., Cox C.D., Dang M., Dathorne S.R., David R., Davis C.M., Davy-Carroll L., Deshazo D.R., Donlin J.E., D'Souza L., Eaves K.A., Egan A., Emery-Cohen A.J., Escotto M., Flagg N., Forbes L.D., Gabisi A.M., Garza M., Hamilton C., Henderson N., Hernandez O., Hines S., Hogues M.E., Huang M., Idlebird D.G., Johnson R., Jolivet A., Jones S., Kagan R., King L.M., Leal B., Lebow H., Lee S., LeVan J.M., Lewis L.C., London P., Lorensuhewa L.M., Loulseged H., Lovett D.A., Lucier A., Lucier R.L., Ma J., Madu R.C., Mapua P., Martindale A.D., Martinez E., Massey E., Mawhiney S., Meador M.G., Mendez S., Mercado C., Mercado I.C., Merritt C.E., Miner Z.L., Minja E., Mitchell T., Mohabbat F., Mohabbat K., Montgomery B., Moore N., Morris S., Munidasa M., Ngo R.N., Nguyen N.B., Nickerson E., Nwaokelemeh O.O., Nwokenkwo S., Obregon M., Oguh M., Oragunye N., Oviedo R.J., Parish B.J., Parker D.N., Parrish J., Parks K.L., Paul H.A., Payton B.A., Perez A., Perrin W., Pickens A., Primus E.L., Pu L.-L., Puazo M., Quiles M.M., Quiroz J.B., Rabata D., Reeves K., Ruiz S.J., Shao H., Sisson I., Sonaike T., Sorelle R.P., Sutton A.E., Svatek A.F., Svetz L.A., Tamerisa K.S., Taylor T.R., Teague B., Thomas N., Thorn R.D., Trejos Z.Y., Trevino B.K., Ukegbu O.N., Urban J.B., Vasquez L.I., Vera V.A., Villasana D.M., Wang L., Ward-Moore S., Warren J.T., Wei X., White F., Williamson A.L., Wleczyk R., Wooden H.S., Wooden S.H., Yen J., Yoon L., Yoon V., Zorrilla S.E., Nelson D., Kucherlapati R., Weinstock G., Gibbs R.A.
Nature 440:346-351(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 3), VARIANTS ILE-103; HIS-489 AND LEU-552.
Tissue: Prostate and Testis.
[5]Yu W., Sarginson J., Gibbs R.A.
Submitted (JUN-1997) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 462-714 (ISOFORM 1), VARIANT HIS-489.
Tissue: Brain.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
RefSeqNP_001191957.1. NM_001205028.1.
NP_001191958.1. NM_001205029.1.
NP_059136.2. NM_017440.4.
NP_064513.1. NM_020128.2.
UniGeneHs.655702.

3D structure databases

ProteinModelPortalQ8TC05.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid121220. 1 interaction.
IntActQ8TC05. 2 interactions.
STRING9606.ENSP00000302537.

PTM databases

PhosphoSiteQ8TC05.

Polymorphism databases

DMDM156632525.

Proteomic databases

PaxDbQ8TC05.
PRIDEQ8TC05.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000303145; ENSP00000302537; ENSG00000111554. [Q8TC05-1]
ENST00000393543; ENSP00000377175; ENSG00000111554. [Q8TC05-3]
ENST00000411698; ENSP00000391006; ENSG00000111554. [Q8TC05-4]
ENST00000430606; ENSP00000408694; ENSG00000111554. [Q8TC05-2]
GeneID56890.
KEGGhsa:56890.
UCSCuc001stz.2. human. [Q8TC05-1]
uc001sua.4. human. [Q8TC05-2]
uc010std.2. human. [Q8TC05-3]

Organism-specific databases

CTD56890.
GeneCardsGC12M068688.
HGNCHGNC:29917. MDM1.
HPAHPA040411.
HPA041594.
MIM613813. gene.
neXtProtNX_Q8TC05.
PharmGKBPA134879752.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG72701.
HOGENOMHOG000113507.
HOVERGENHBG108124.
InParanoidQ8TC05.
KOK17886.
OMAHQRLGKV.
OrthoDBEOG7P2XVF.
PhylomeDBQ8TC05.
TreeFamTF331015.

Gene expression databases

ArrayExpressQ8TC05.
BgeeQ8TC05.
CleanExHS_MDM1.
GenevestigatorQ8TC05.

Family and domain databases

ProtoNetSearch...

Other

GenomeRNAi56890.
NextBio62299.
PROQ8TC05.
SOURCESearch...

Entry information

Entry nameMDM1_HUMAN
AccessionPrimary (citable) accession number: Q8TC05
Secondary accession number(s): B4DM65 expand/collapse secondary AC list , E7EPQ3, O43406, Q8WTV9, Q9NR04
Entry history
Integrated into UniProtKB/Swiss-Prot: August 21, 2007
Last sequence update: August 21, 2007
Last modified: March 19, 2014
This is version 84 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 12

Human chromosome 12: entries, gene names and cross-references to MIM