CEP85L
entrez
387119
canonical
uniprot
Q5SZL2
canonical
ensembl
ENSG00000111860
resolver
ensp
ENSP00000357474
resolver
ensp
ENSP00000357477
resolver
ensp
ENSP00000393317
resolver
ensp
ENSP00000545650
resolver
genesymbol
C6orf204
resolver
genesymbol
CEP85L
resolver
genesymbol_syn
C6orf204
resolver
hgnc
HGNC:21638
resolver
uniprot
A1A4E1
resolver
uniprot
A2A3P2
resolver
uniprot
A2IDE5
resolver
uniprot
F8W6J2
resolver
uniprot
G3V0H3
resolver
uniprot
Q2TAM2
resolver
uniprot
Q3ZCQ5
resolver
uniprot
Q5T323
resolver
uniprot
Q7Z5K7
resolver
uniprot
Q9H289
resolver
uniprot_entry
CE85L_HUMAN
resolver
uniprot_entry
Q3ZCQ5_HUMAN
resolver
uniprot_sec
A1A4E1
resolver
uniprot_sec
A2A3P2
resolver
uniprot_sec
A2IDE5
resolver
uniprot_sec
F8W6J2
resolver
uniprot_sec
G3V0H3
resolver
uniprot_sec
Q2TAM2
resolver
uniprot_sec
Q5T323
resolver
uniprot_sec
Q7Z5K7
resolver
uniprot_sec
Q9H289
resolver
amino_acid_sequence
MWGRFLAPEASGRDSPGGARSFPAGPDYSSAWLPANESLWQATTVPSNHRNNHIRRHSIASDSGDTGIGTSCSDSVEDHSTSSGTLSFKPSQSLITLPTAHVMPSNSSASISKLRESLTPDGSKWSTSLMQTLGNHSRGEQDSSLDMKDFRPLRKWSSLSKLTAPDNCGQGGTVCREESRNGLEKIGKAKALTSQLRTIGPSCLHDSMEMLRLEDKEINKKRSSTLDCKYKFESCSKEDFRASSSTLRRQPVDMTYSALPESKPIMTSSEAFEPPKYLMLGQQAVGGVPIQPSVRTQMWLTEQLRTNPLEGRNTEDSYSLAPWQQQQIEDFRQGSETPMQVLTGSSRQSYSPGYQDFSKWESMLKIKEGLLRQKEIVIDRQKQQITHLHERIRDNELRAQHAMLGHYVNCEDSYVASLQPQYENTSLQTPFSEESVSHSQQGEFEQKLASTEKEVLQLNEFLKQRLSLFSEEKKKLEEKLKTRDRYISSLKKKCQKESEQNKEKQRRIETLEKYLADLPTLDDVQSQSLQLQILEEKNKNLQEALIDTEKKLEEIKKQCQDKETQLICQKKKEKELVTTVQSLQQKVERCLEDGIRLPMLDAKQLQNENDNLRQQNETASKIIDSQQDEIDRMILEIQSMQGKLSKEKLTTQKMMEELEKKERNVQRLTKALLENQRQTDETCSLLDQGQEPDQSRQQTVLSKRPLFDLTVIDQLFKEMSCCLFDLKALCSILNQRAQGKEPNLSLLLGIRSMNCSAEETENDHSTETLTKKLSDVCQLRRDIDELRTTISDRYAQDMGDNCITQ
uniprot
proteins
disease_involvement
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. {ECO:0000269|PubMed:21938754}.; DISEASE: Lissencephaly 10 (LIS10) [MIM:618873]: A form of lissencephaly, a disorder of cortical development characterized by agyria or pachygyria and disorganization of the clear neuronal lamination of normal six-layered cortex. LIS10 is an autosomal dominant form clinically characterized by variably delayed development, mildly to moderately impaired intellectual development, language delay, and seizures. Some patients have normal early development and borderline to mild cognitive impairment. {ECO:0000269|PubMed:32097630}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Plays an essential role in neuronal cell migration. {ECO:0000269|PubMed:32097630}.
uniprot
proteins
mass_dalton
91808
uniprot
proteins
protein_family
CEP85 family
uniprot
proteins
pubmed
12747765
uniprot
proteins
pubmed
14574404
uniprot
proteins
pubmed
14654843
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16959974
uniprot
proteins
pubmed
21399614
uniprot
proteins
pubmed
21938754
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
32097630
uniprot
proteins
sequence_length
805
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:14654843, ECO:0000269|PubMed:21399614, ECO:0000269|PubMed:32097630}. Note=Localized specifically to the pericentriolar region. {ECO:0000269|PubMed:32097630}.
uniprot
proteins