Endometriosis Knowledgebase


A repository for genes associated with endometriosis

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Gene id 64793
Gene Summary        Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed references    

Gene Summary

Gene Symbol CEP85   Gene   UCSC   Ensembl
Aliases CCDC21
Gene name centrosomal protein 85
Alternate names centrosomal protein of 85 kDa, centrosomal protein 85kDa, coiled-coil domain-containing protein 21,
Gene location 1p36.11 (26234152: 26278809)     Exons: 16     NC_000001.11
Gene summary(Entrez) This gene encodes a protein that belongs to the centrosome-associated family of proteins. The centrosome is a subcellular organelle in the animal cell that functions as a microtubule organizing center and is involved in cell-cycle progression. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]

Protein Summary

Protein general information Q6P2H3  

Name: Centrosomal protein of 85 kDa (Cep85) (Coiled coil domain containing protein 21)

Length: 762  Mass: 85,639

Sequence MAMQEKYPTEGISHVTSPSSDVIQKGSSLGTEWQTPVISEPFRSRFSRCSSVADSGDTAIGTSCSDIAEDFCSSS
GSPPFQPIKSHVTIPTAHVMPSTLGTSPAKPNSTPVGPSSSKLPLSGLAESVGMTRNGDLGAMKHSPGLSRDLMY
FSGATGENGIEQSWFPAVGHERQEEARKFDIPSMESTLNQSAMMETLYSDPHHRVRFHNPRTSTSKELYRVLPEA
KKAPGSGAVFERNGPHSNSSGVLPLGLQPAPGLSKPLPSQVWQPSPDTWHPREQSCELSTCRQQLELIRLQMEQM
QLQNGAICHHPAAFGPSLPILEPAQWISILNSNEHLLKEKELLIDKQRKHISQLEQKVRESELQVHSALLGRPAP
FGDVCLLRLQELQRENTFLRAQFAQKTEALSREKIDLEKKLSASEVEVQLIRESLKVALQKHSEEVKKQEERVKG
RDKHINNLKKKCQKESEQNREKQQRIETLERYLADLPTLEDHQKQSQQLKDSELKSTELQEKVTELESLLEETQA
ICREKEIQLESLRQREAEFSSAGHSLQDKQSVEETSGEGPEVEMESWQKRYDSLQKIVEKQQQKMDQLRSQVQSL
EQEVAQEEGTSQALREEAQRRDSALQQLRTAVKELSVQNQDLIEKNLTLQEHLRQAQPGSPPSPDTAQLALELHQ
ELASCLQDLQAVCSIVTQRAQGHDPNLSLLLGIHSAQHPETQLDLQKPDVIKRKLEEVQQLRRDIEDLRTTMSDR
YAQDMGENCVTQ
Structural information
Interpro:  IPR029777
MINT:   7034519
STRING:   ENSP00000252992;
Other Databases GeneCards:  CEP85;  Malacards:  CEP85

Gene ontology


GO accessionTerm nameEvidence codeGo category
GO:0000242 pericentriolar material
IDA cellular_component
GO:0000922 spindle pole
IDA cellular_component
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005730 nucleolus
IDA cellular_component
GO:0005730 nucleolus
IDA cellular_component
GO:0005737 cytoplasm
IDA cellular_component
GO:0005794 Golgi apparatus
IDA cellular_component
GO:0005813 centrosome
IDA cellular_component
GO:0005813 centrosome
IDA cellular_component
GO:0006469 negative regulation of pr
otein kinase activity
IMP biological_process
GO:0007059 chromosome segregation
IEA biological_process
GO:0046602 regulation of mitotic cen
trosome separation
IMP biological_process
GO:0000242 pericentriolar material
IDA cellular_component
GO:0000922 spindle pole
IEA cellular_component
GO:0000922 spindle pole
IDA cellular_component
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005634 nucleus
IEA cellular_component
GO:0005730 nucleolus
IEA cellular_component
GO:0005730 nucleolus
IDA cellular_component
GO:0005730 nucleolus
IDA cellular_component
GO:0005737 cytoplasm
IEA cellular_component
GO:0005737 cytoplasm
IDA cellular_component
GO:0005794 Golgi apparatus
IDA cellular_component
GO:0005813 centrosome
IEA cellular_component
GO:0005813 centrosome
IDA cellular_component
GO:0005813 centrosome
IDA cellular_component
GO:0005815 microtubule organizing ce
nter
IEA cellular_component
GO:0005856 cytoskeleton
IEA cellular_component
GO:0006469 negative regulation of pr
otein kinase activity
IMP biological_process
GO:0007059 chromosome segregation
IEA biological_process
GO:0046602 regulation of mitotic cen
trosome separation
IMP biological_process
GO:0000242 pericentriolar material
IDA cellular_component
GO:0000922 spindle pole
IDA cellular_component
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005730 nucleolus
IDA cellular_component
GO:0005730 nucleolus
IDA cellular_component
GO:0005737 cytoplasm
IDA cellular_component
GO:0005794 Golgi apparatus
IDA cellular_component
GO:0005813 centrosome
IDA cellular_component
GO:0005813 centrosome
IDA cellular_component
GO:0006469 negative regulation of pr
otein kinase activity
IMP biological_process
GO:0046602 regulation of mitotic cen
trosome separation
IMP biological_process

Diseases

Associated diseases References
Endometriosis PMID: 22276910
Endometriosis INFBASE22276910

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
22276910 Endometrio
sis

100 (50 endomet
riosis, 50 cont
rols)
COX-2
BRAF
NRAS
CFL1
MAT2A
SEPT9
ATAD3A
CADM2
NAA15 and CCDC21
Show abstract