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] See more...

Aliases for CEP85L Gene

Aliases for CEP85L Gene

  • Centrosomal Protein 85 Like 2 3 5
  • Serologically Defined Breast Cancer Antigen NY-BR-15 3 4
  • Centrosomal Protein Of 85 KDa-Like 3 4
  • Centrosomal Protein 85kDa-Like 2 3
  • BA57K17.2 2 3
  • C6orf204 3 4
  • NY-BR-15 2 3
  • Chromosome 6 Open Reading Frame 204 2
  • CEP85L 5
  • LIS10 3

External Ids for CEP85L Gene

Previous HGNC Symbols for CEP85L Gene

  • C6orf204

Previous GeneCards Identifiers for CEP85L Gene

  • GC06M118782

Summaries for CEP85L Gene

Entrez Gene Summary for CEP85L Gene

  • 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]

GeneCards Summary for CEP85L Gene

CEP85L (Centrosomal Protein 85 Like) is a Protein Coding gene. Diseases associated with CEP85L include Lissencephaly 10 and Myeloproliferative Neoplasm. An important paralog of this gene is CEP85.

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CEP85L Gene

Genomics for CEP85L Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CEP85L Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH06J118707 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 611.9 +0.7 697 3.6 HNRNPL PRDM10 RFX1 LEF1 IKZF1 JUND ZIC2 ZSCAN4 PKNOX1 POLR2A CEP85L MCM9 piR-61945-438 PLN MN298114-217
GH06J118649 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 605.2 +59.2 59220 3.4 PRDM10 ZNF629 IKZF1 ZNF692 POLR2A BACH1 LARP7 ZIC2 RBFOX2 PKNOX1 CEP85L SSXP10 MCM9 lnc-MCM9-3 lnc-MCM9-2 PLN MN298114-217
GH06J118826 Promoter 0.4 EPDnew 600.1 -116.2 -116192 0.1 ZBTB33 CEP85L piR-61514-167 piR-50443-325 ASF1A MCM9
GH06J118890 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 13.3 -184.4 -184421 7.4 SP1 GATAD2A CTCF TEAD4 PRDM10 ZNF629 REST LEF1 IKZF1 NFKBIZ ASF1A lnc-FAM184A-3 MCM9 CEP85L ENSG00000253194 FAM184A piR-56497-136
GH06J118807 Enhancer 1 FANTOM5 Ensembl ENCODE 20.3 -101.3 -101300 7.6 YY1 PKNOX1 CEBPB RUNX3 BCLAF1 FOS SPI1 GABPA ATF2 NFATC1 MCM9 CEP85L ASF1A FAM184A piR-50443-325 piR-61514-167
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CEP85L on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CEP85L

Genomic Locations for CEP85L Gene

Genomic Locations for CEP85L Gene
chr6:118,460,772-118,710,101
(GRCh38/hg38)
Size:
249,330 bases
Orientation:
Minus strand
chr6:118,781,935-119,031,238
(GRCh37/hg19)
Size:
249,304 bases
Orientation:
Minus strand

Genomic View for CEP85L Gene

Genes around CEP85L on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CEP85L Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CEP85L Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CEP85L Gene

Proteins for CEP85L Gene

  • Protein details for CEP85L Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5SZL2-CE85L_HUMAN
    Recommended name:
    Centrosomal protein of 85 kDa-like
    Protein Accession:
    Q5SZL2
    Secondary Accessions:
    • A1A4E1
    • A2A3P2
    • A2IDE5
    • F8W6J2
    • G3V0H3
    • Q2TAM2
    • Q5T323
    • Q7Z5K7
    • Q9H289

    Protein attributes for CEP85L Gene

    Size:
    805 amino acids
    Molecular mass:
    91808 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAI10836.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

    Alternative splice isoforms for CEP85L Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CEP85L Gene

Post-translational modifications for CEP85L Gene

  • Ubiquitination at Lys453
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for CEP85L Gene

Domains & Families for CEP85L Gene

Gene Families for CEP85L Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for CEP85L Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CEP85L Gene

GenScript: Design optimal peptide antigens:
  • Chromosome 6 open reading frame 204 (A2A3P2_HUMAN)
  • Serologically defined breast cancer antigen NY-BR-15 (CF204_HUMAN)
  • C6orf204 protein (Q3ZCQ5_HUMAN)
  • Chromosome 6 open reading frame 204 (Q5R353_HUMAN)
  • Chromosome 6 open reading frame 204 (Q5R354_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q5SZL2

UniProtKB/Swiss-Prot:

CE85L_HUMAN :
  • Belongs to the CEP85 family.
Family:
  • Belongs to the CEP85 family.
genes like me logo Genes that share domains with CEP85L: view

Function for CEP85L Gene

Phenotypes From GWAS Catalog for CEP85L Gene

genes like me logo Genes that share phenotypes with CEP85L: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CEP85L

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CEP85L Gene

Localization for CEP85L Gene

Subcellular locations from UniProtKB/Swiss-Prot for CEP85L Gene

Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Note=Subcellular experiments using a GFP-tagged system produced a weak signal, rendering it difficult to confirm centrosome association.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CEP85L gene
Compartment Confidence
cytoskeleton 3
nucleus 3
plasma membrane 1
endoplasmic reticulum 1
cytosol 0

Gene Ontology (GO) - Cellular Components for CEP85L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005813 centrosome IBA,TAS 21399614
GO:0005815 microtubule organizing center IEA --
GO:0005856 cytoskeleton IEA --
genes like me logo Genes that share ontologies with CEP85L: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CEP85L Gene

Pathways & Interactions for CEP85L Gene

PathCards logo

SuperPathways for CEP85L Gene

No Data Available

Gene Ontology (GO) - Biological Process for CEP85L Gene

None

No data available for Pathways by source and SIGNOR curated interactions for CEP85L Gene

Drugs & Compounds for CEP85L Gene

No Compound Related Data Available

Transcripts for CEP85L Gene

mRNA/cDNA for CEP85L Gene

3 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
11 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CEP85L

Alternative Splicing Database (ASD) splice patterns (SP) for CEP85L Gene

No ASD Table

Relevant External Links for CEP85L Gene

GeneLoc Exon Structure for
CEP85L

Expression for CEP85L Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CEP85L Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CEP85L Gene

This gene is overexpressed in Testis (x4.2).

Protein differential expression in normal tissues from HIPED for CEP85L Gene

This gene is overexpressed in Plasma (50.2) and Thyroid (10.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CEP85L Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CEP85L

SOURCE GeneReport for Unigene cluster for CEP85L Gene:

Hs.656959

mRNA Expression by UniProt/SwissProt for CEP85L Gene:

Q5SZL2-CE85L_HUMAN
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.

Evidence on tissue expression from TISSUES for CEP85L Gene

  • Blood(4.2)
  • Lung(4.2)
  • Nervous system(3.9)
  • Kidney(2.5)
genes like me logo Genes that share expression patterns with CEP85L: view

Primer Products

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for CEP85L Gene

Orthologs for CEP85L Gene

This gene was present in the common ancestor of chordates.

Orthologs for CEP85L Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia CEP85L 31
  • 96 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia CEP85L 30 31
  • 91.77 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia CEP85L 30 31
  • 90.8 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Cep85l 30 17 31
  • 86.38 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia LOC100365935 30
  • 85.07 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia CEP85L 31
  • 68 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia CEP85L 31
  • 68 (a)
OneToOne
Chicken
(Gallus gallus)
Aves CEP85L 30 31
  • 72.37 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia CEP85L 31
  • 65 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia cep85l 30
  • 59.95 (n)
Zebrafish
(Danio rerio)
Actinopterygii cep85l 30 31
  • 54.21 (n)
OneToOne
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 22 (a)
OneToMany
Species where no ortholog for CEP85L was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for CEP85L Gene

ENSEMBL:
Gene Tree for CEP85L (if available)
TreeFam:
Gene Tree for CEP85L (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CEP85L: view image

Paralogs for CEP85L Gene

Paralogs for CEP85L Gene

(3) SIMAP similar genes for CEP85L Gene using alignment to 2 proteins:

  • CE85L_HUMAN
  • A2A3P3_HUMAN
genes like me logo Genes that share paralogs with CEP85L: view

Variants for CEP85L Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CEP85L Gene

SNP ID Clinical significance and condition Chr 06 pos Variation AA Info Type
675329 Likely Benign: not provided 118,558,772(-) T/A INTRON_VARIANT
675990 Likely Benign: not provided 118,558,720(-) A/G INTRON_VARIANT
682277 Likely Benign: not provided 118,548,407(-) T/A INTRON_VARIANT
700703 Likely Benign: Dilated cardiomyopathy 1P 118,559,065(-) C/T SYNONYMOUS_VARIANT,INTRON_VARIANT
839623 Uncertain Significance: Dilated cardiomyopathy 1P 118,559,072(-) C/A MISSENSE_VARIANT,INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for CEP85L Gene

Structural Variations from Database of Genomic Variants (DGV) for CEP85L Gene

Variant ID Type Subtype PubMed ID
dgv10918n54 CNV gain 21841781
dgv10919n54 CNV gain 21841781
dgv1213e214 CNV gain 21293372
dgv1826e212 CNV gain 25503493
esv2333041 CNV deletion 18987734
esv2440070 CNV deletion 19546169
esv2581079 CNV deletion 19546169
esv2665977 CNV deletion 23128226
esv2732624 CNV deletion 23290073
esv27506 CNV loss 19812545
esv275552 CNV loss 21479260
esv3435797 CNV insertion 20981092
esv3540363 CNV deletion 23714750
esv3571371 CNV loss 25503493
esv3610513 CNV loss 21293372
esv3610516 CNV loss 21293372
esv3610517 CNV gain 21293372
esv3610519 CNV loss 21293372
esv3610520 CNV gain 21293372
esv3610522 CNV loss 21293372
esv3610523 CNV loss 21293372
esv3867 CNV loss 18987735
esv3890931 CNV gain 25118596
esv4141 OTHER sequence alteration 18987735
nsv1019357 CNV gain 25217958
nsv1020463 CNV gain 25217958
nsv1020586 CNV gain 25217958
nsv1030331 CNV gain 25217958
nsv1034448 CNV gain 25217958
nsv1074009 CNV deletion 25765185
nsv1125886 CNV tandem duplication 24896259
nsv1140686 CNV deletion 24896259
nsv1161446 CNV duplication 26073780
nsv464029 CNV gain 19166990
nsv525179 CNV gain 19592680
nsv525925 CNV loss 19592680
nsv604555 CNV gain 21841781
nsv830787 CNV loss 17160897
nsv830788 CNV gain 17160897
nsv969439 CNV duplication 23825009

Variation tolerance for CEP85L Gene

Residual Variation Intolerance Score: 64.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.44; 71.39% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CEP85L Gene

Human Gene Mutation Database (HGMD)
CEP85L
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CEP85L

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CEP85L Gene

Disorders for CEP85L Gene

MalaCards: The human disease database

(8) MalaCards diseases for CEP85L Gene - From: OMIM, ClinVar, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
lissencephaly 10
  • lis10
myeloproliferative neoplasm
  • campomelic dysplasia
lymphoblastic lymphoma
  • lymphoma, lymphoblastic
breast cancer
  • breast lobular carcinoma
spitzoid melanoma
  • atypical spitz nevus
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

CE85L_HUMAN
  • 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. {ECO:0000269 PubMed:21938754}.
genes like me logo Genes that share disorders with CEP85L: view

No data available for Genatlas for CEP85L Gene

Publications for CEP85L Gene

  1. Systematic screen for tyrosine kinase rearrangements identifies a novel C6orf204-PDGFRB fusion in a patient with recurrent T-ALL and an associated myeloproliferative neoplasm. (PMID: 21938754) Chmielecki J … Pao W (Genes, chromosomes & cancer 2012) 3 4
  2. Novel asymmetrically localizing components of human centrosomes identified by complementary proteomics methods. (PMID: 21399614) Jakobsen L … Andersen JS (The EMBO journal 2011) 3 4
  3. Humoral immunity to human breast cancer: antigen definition and quantitative analysis of mRNA expression. (PMID: 12747765) Scanlan MJ … Old LJ (Cancer immunity 2001) 3 4
  4. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3
  5. VIRMA mediates preferential m6A mRNA methylation in 3'UTR and near stop codon and associates with alternative polyadenylation. (PMID: 29507755) Yue Y … Liu J (Cell discovery 2018) 3

Products for CEP85L Gene

Sources for CEP85L Gene