Human Gene MUM1 (uc002lsa.1)
  Description: melanoma ubiquitous mutated protein
Transcript (Including UTRs)
   Position: hg18 chr19:1,306,010-1,329,427 Size: 23,418 Total Exon Count: 14 Strand: +
Coding Region
   Position: hg18 chr19:1,307,389-1,327,575 Size: 20,187 Coding Exon Count: 13 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDMicroarray Expression
RNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA DescriptionsOther Names
Model InformationMethods
Data last updated at UCSC: 2009-03-03

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr19:1,306,010-1,329,427)mRNA (may differ from genome)Protein (711 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHPRDMGIPubMed
TreefamUniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: MUM1_HUMAN
DESCRIPTION: RecName: Full=PWWP domain-containing protein MUM1; AltName: Full=Mutated melanoma-associated antigen 1; Short=MUM-1; AltName: Full=Protein expandere;
FUNCTION: Involved in the DNA damage response pathway by contributing to the maintenance of chromatin architecture. Recruited to the vicinity of DNA breaks by TP53BP1 and plays an accessory role to facilitate damage-induced chromatin changes and promoting chromatin relaxation. Required for efficient DNA repair and cell survival following DNA damage.
SUBUNIT: Interacts with TP53BP1 (via BRCT domain); the interaction is not dependent on its phosphorylation status. Binds nucleosomes.
SUBCELLULAR LOCATION: Nucleus. Note=Recuited to DNA damage sites via its interaction with the BRCT domain of TP53BP1.
DOMAIN: The PWWP domain mediates the interaction with nucleosomes.
PTM: Phosphorylated upon DNA damage, probably by ATM or ATR.
MISCELLANEOUS: Acts as an antigenic peptide recognized by cytolytic T-lymphocytes in a melanoma (PubMed:7644523).
SIMILARITY: Belongs to the MUM1 family.
SIMILARITY: Contains 1 PWWP domain.
SEQUENCE CAUTION: Sequence=AAC50240.1; Type=Frameshift; Positions=4; Sequence=AAH08098.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=AAI10875.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=BAB55357.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAC11493.1; Type=Erroneous initiation; Note=Translation N-terminally extended;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  Microarray Expression Data
 
Expression ratio colors:

GNF Expression Atlas 2 Data from U133A and GNF1H Chips

      
      
      
     
    
     
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Affymetrix All Exon Microarrays

           
Ratios

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -93.40191-0.489 Picture PostScript Text
3' UTR -833.541852-0.450 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR000313 - PWWP

SCOP Domains:
63748 - Tudor/PWWP/MBT

Protein Data Bank (PDB) 3-D Structure
MuPIT help
3PMI - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q2TAK8
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGI     
Protein Sequence     
Alignment     

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0031491 nucleosome binding

Biological Process:
GO:0006281 DNA repair
GO:0006325 chromatin organization
GO:0006974 cellular response to DNA damage stimulus

Cellular Component:
GO:0005634 nucleus
GO:0005829 cytosol


-  Descriptions from all associated GenBank mRNAs
  AK310721 - Homo sapiens cDNA, FLJ17763.
U20897 - Homo sapiens melanoma ubiquitous mutated protein (MUM-1) mRNA, partial cds.
BC110874 - Homo sapiens melanoma associated antigen (mutated) 1, mRNA (cDNA clone MGC:131891 IMAGE:4933735), complete cds.
BC130443 - Homo sapiens melanoma associated antigen (mutated) 1, mRNA (cDNA clone MGC:163315 IMAGE:40146474), complete cds.
BC144138 - Homo sapiens melanoma associated antigen (mutated) 1, mRNA (cDNA clone MGC:177675 IMAGE:9052658), complete cds.
BC144147 - Homo sapiens cDNA clone IMAGE:9052667.
AK309092 - Homo sapiens cDNA, FLJ99133.
U20896 - Human clone 122/3 melanoma ubiquitous mutated protein (MUM-1) gene, partial cds.
AK075241 - Homo sapiens cDNA FLJ90760 fis, clone THYRO1000061.
BC008098 - Homo sapiens melanoma associated antigen (mutated) 1, mRNA (cDNA clone IMAGE:4177768), complete cds.
AK027774 - Homo sapiens cDNA FLJ14868 fis, clone PLACE1002395, weakly similar to Mus musculus mRNA for UBE-1c1, UBE-1c2, UBE-1c3.
BC082987 - Homo sapiens melanoma associated antigen (mutated) 1, mRNA (cDNA clone IMAGE:6185500), partial cds.
AF151045 - Homo sapiens HSPC211 mRNA, complete cds.
AL360266 - Homo sapiens mRNA full length insert cDNA clone EUROIMAGE 1743294.
BC001806 - Homo sapiens cDNA clone IMAGE:3355032, partial cds.
CR457395 - Homo sapiens full open reading frame cDNA clone RZPDo834E0810D for gene MUM1, melanoma associated antigen (mutated) 1; complete cds, incl. stopcodon.
AK025936 - Homo sapiens cDNA: FLJ22283 fis, clone HRC03873.
BC021016 - Homo sapiens melanoma associated antigen (mutated) 1, mRNA (cDNA clone IMAGE:3638059).
BC019585 - Homo sapiens melanoma associated antigen (mutated) 1, mRNA (cDNA clone IMAGE:4180879).
CU676446 - Synthetic construct Homo sapiens gateway clone IMAGE:100020618 5' read MUM1 mRNA.
JD415419 - Sequence 396443 from Patent EP1572962.
JD389842 - Sequence 370866 from Patent EP1572962.
JD458222 - Sequence 439246 from Patent EP1572962.
JD518552 - Sequence 499576 from Patent EP1572962.
JD541663 - Sequence 522687 from Patent EP1572962.
JD470990 - Sequence 452014 from Patent EP1572962.
JD446661 - Sequence 427685 from Patent EP1572962.
JD378847 - Sequence 359871 from Patent EP1572962.
JD403076 - Sequence 384100 from Patent EP1572962.
JD548476 - Sequence 529500 from Patent EP1572962.
JD543915 - Sequence 524939 from Patent EP1572962.
JD501620 - Sequence 482644 from Patent EP1572962.
JD382141 - Sequence 363165 from Patent EP1572962.
JD465416 - Sequence 446440 from Patent EP1572962.
JD476074 - Sequence 457098 from Patent EP1572962.
JD554235 - Sequence 535259 from Patent EP1572962.
JD496511 - Sequence 477535 from Patent EP1572962.
JD464149 - Sequence 445173 from Patent EP1572962.
JD396317 - Sequence 377341 from Patent EP1572962.
JD409671 - Sequence 390695 from Patent EP1572962.
JD466619 - Sequence 447643 from Patent EP1572962.
JD494018 - Sequence 475042 from Patent EP1572962.
KJ903493 - Synthetic construct Homo sapiens clone ccsbBroadEn_12887 MUM1 gene, encodes complete protein.
KJ903492 - Synthetic construct Homo sapiens clone ccsbBroadEn_12886 MUM1 gene, encodes complete protein.
HQ258341 - Synthetic construct Homo sapiens clone IMAGE:100072650 Unknown protein gene, encodes complete protein.
KJ904928 - Synthetic construct Homo sapiens clone ccsbBroadEn_14322 MUM1 gene, encodes complete protein.
JD228460 - Sequence 209484 from Patent EP1572962.
JD141251 - Sequence 122275 from Patent EP1572962.
JD227887 - Sequence 208911 from Patent EP1572962.
JD106487 - Sequence 87511 from Patent EP1572962.
JD196687 - Sequence 177711 from Patent EP1572962.
JD282253 - Sequence 263277 from Patent EP1572962.
JD143857 - Sequence 124881 from Patent EP1572962.
JD235565 - Sequence 216589 from Patent EP1572962.
JD144976 - Sequence 126000 from Patent EP1572962.
JD186992 - Sequence 168016 from Patent EP1572962.
JD329480 - Sequence 310504 from Patent EP1572962.
JD254920 - Sequence 235944 from Patent EP1572962.
JD227904 - Sequence 208928 from Patent EP1572962.
JD192903 - Sequence 173927 from Patent EP1572962.
JD222811 - Sequence 203835 from Patent EP1572962.
JD278487 - Sequence 259511 from Patent EP1572962.
JD203984 - Sequence 185008 from Patent EP1572962.
JD211318 - Sequence 192342 from Patent EP1572962.
JD299013 - Sequence 280037 from Patent EP1572962.
JD251777 - Sequence 232801 from Patent EP1572962.
JD251778 - Sequence 232802 from Patent EP1572962.
JD120277 - Sequence 101301 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: A1L489, MUM1_HUMAN, NM_032853, NP_116242, Q2TAK8, Q5XKB9, Q8N2I4, Q96A67
UCSC ID: uc002lsa.1
RefSeq Accession: NM_032853
Protein: Q2TAK8 (aka MUM1_HUMAN)
CCDS: CCDS12062.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_032853.2
exon count: 14CDS single in 3' UTR: no RNA size: 4179
ORF size: 2136CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 4423.00frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.