Human Gene CEP85L (uc003pxz.2) Description and Page Index
  Description: Homo sapiens centrosomal protein 85kDa-like (CEP85L), transcript variant 1, mRNA.
RefSeq Summary (NM_001042475): The protein encoded by this gene was identified as a breast cancer antigen. Nothing more is known of its function at this time. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2010].
Transcript (Including UTRs)
   Position: hg19 chr6:118,781,935-118,973,020 Size: 191,086 Total Exon Count: 13 Strand: -
Coding Region
   Position: hg19 chr6:118,786,568-118,972,432 Size: 185,865 Coding Exon Count: 13 

Page IndexSequence and LinksUniProtKB CommentsMalaCardsCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr6:118,781,935-118,973,020)mRNA (may differ from genome)Protein (805 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkHGNCHPRDLynxMGIneXtProt
PubMedStanford SOURCETreefamUniProtKB

-  Comments and Description Text from UniProtKB
  ID: CE85L_HUMAN
DESCRIPTION: RecName: Full=Centrosomal protein of 85 kDa-like; AltName: Full=Serologically defined breast cancer antigen NY-BR-15;
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, centrosome (Probable). Note=Subcellular experiments using a GFP-tagged system produced a weak signal, rendering it difficult to confirm centrosome association.
TISSUE SPECIFICITY: Isoform 1 and isoform 4 are expressed in spleen, lymph, thymus, tonsil and peripheral blood leukocytes, with isoform 1 expressed at higher levels. Isoform 4 is detected in K-562 leukemia cells and in the blood of precursor T lymphoblastic lymphoma (T-ALL) patients.
DISEASE: Note=A chromosomal aberration involving CEP85L is found in a patient with T-lymphoblastic lymphoma (T-ALL) and an associated myeloproliferative neoplasm (MPN) with eosinophilia. Translocation t(5;6)(q33-34;q23) with PDGFRB. The translocation fuses the 5'-end of CEP85L (isoform 4) to the 3'-end of PDGFRB.
SIMILARITY: Belongs to the CEP85 family.
SEQUENCE CAUTION: Sequence=AAI10836.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=CAM19611.1; Type=Erroneous gene model prediction; Sequence=CAM28257.1; Type=Erroneous gene model prediction;

-  MalaCards Disease Associations
  MalaCards Gene Search: CEP85L
Diseases sorted by gene-association score: myeloproliferative neoplasm (15), lymphoblastic lymphoma (10), breast cancer (3)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
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-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 13.92 RPKM in Testis
Total median expression: 114.55 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -297.80588-0.506 Picture PostScript Text
3' UTR -1171.034633-0.253 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
  ModBase Predicted Comparative 3D Structure on Q5SZL2
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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
No orthologGenome BrowserGenome BrowserNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGDEnsembl   
 Protein SequenceProtein Sequence   
 AlignmentAlignment   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Cellular Component:
GO:0005737 cytoplasm
GO:0005813 centrosome
GO:0005815 microtubule organizing center
GO:0005856 cytoskeleton


-  Descriptions from all associated GenBank mRNAs
  AF308284 - Homo sapiens serologically defined breast cancer antigen NY-BR-15 mRNA, partial cds.
BC036553 - Homo sapiens cDNA clone IMAGE:5265665.
AF131811 - Homo sapiens clone 24930 mRNA sequence.
BC064835 - Homo sapiens chromosome 6 open reading frame 204, mRNA (cDNA clone IMAGE:4556863), partial cds.
BC110835 - Homo sapiens chromosome 6 open reading frame 204, mRNA (cDNA clone IMAGE:5762567), complete cds.
AY313778 - Homo sapiens serologically defined breast cancer antigen NY-BR-15-like protein mRNA, complete cds.
BC126142 - Homo sapiens chromosome 6 open reading frame 204, mRNA (cDNA clone IMAGE:8991858), partial cds.
BC126140 - Homo sapiens chromosome 6 open reading frame 204, mRNA (cDNA clone IMAGE:8991856), partial cds.
BC153054 - Synthetic construct Homo sapiens clone IMAGE:100016385, MGC:184280 chromosome 6 open reading frame 204 (C6orf204) mRNA, encodes complete protein.
BC148459 - Synthetic construct Homo sapiens clone IMAGE:100015403, MGC:183021 chromosome 6 open reading frame 204 (C6orf204) mRNA, encodes complete protein.
AB463525 - Synthetic construct DNA, clone: pF1KB7430, Homo sapiens C6orf204 gene for chromosome 6 open reading frame 204, without stop codon, in Flexi system.
BC048977 - Homo sapiens chromosome 6 open reading frame 204, mRNA (cDNA clone IMAGE:4829842), partial cds.
BC052778 - Homo sapiens chromosome 6 open reading frame 204, mRNA (cDNA clone IMAGE:4829887), partial cds.
AL133101 - Homo sapiens mRNA; cDNA DKFZp434O0921 (from clone DKFZp434O0921).
BC045657 - Homo sapiens cDNA clone IMAGE:5270591.
JD550869 - Sequence 531893 from Patent EP1572962.
JD024878 - Sequence 5902 from Patent EP1572962.
JD029050 - Sequence 10074 from Patent EP1572962.
JD021319 - Sequence 2343 from Patent EP1572962.
JD027650 - Sequence 8674 from Patent EP1572962.
JD030319 - Sequence 11343 from Patent EP1572962.
AK302591 - Homo sapiens cDNA FLJ60197 complete cds.

-  Other Names for This Gene
  Alternate Gene Symbols: A1A4E1, A2A3P2, A2IDE5, C6orf204, CE85L_HUMAN, F8W6J2, G3V0H3, NM_001042475, NP_001035940, Q2TAM2, Q5SZL2, Q5T323, Q7Z5K7, Q9H289
UCSC ID: uc003pxz.2
RefSeq Accession: NM_001042475
Protein: Q5SZL2 (aka CE85L_HUMAN)
CCDS: CCDS43498.1, CCDS55052.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_001042475.2
exon count: 13CDS single in 3' UTR: no RNA size: 7653
ORF size: 2418CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 4595.00frame shift in genome: no % Coverage: 99.82
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.