CEP43
entrez
11116
canonical
uniprot
O95684
canonical
ensembl
ENSG00000213066
resolver
ensp
ENSP00000230248
resolver
ensp
ENSP00000355812
resolver
ensp
ENSP00000479115
resolver
enst
ENST00000622353
resolver
genesymbol
CEP43
resolver
genesymbol_syn
FGFR1OP
resolver
genesymbol_syn
FOP
resolver
hgnc
HGNC:17012
resolver
uniprot
A0A087WV25
resolver
uniprot
A8K1D1
resolver
uniprot
B2R705
resolver
uniprot
B4DH64
resolver
uniprot
Q49AI0
resolver
uniprot
Q5R3F6
resolver
uniprot
Q96EW1
resolver
uniprot_entry
A0A087WV25_HUMAN
resolver
uniprot_entry
B4DH64_HUMAN
resolver
uniprot_entry
CEP43_HUMAN
resolver
uniprot_sec
A8K1D1
resolver
uniprot_sec
B2R705
resolver
uniprot_sec
Q49AI0
resolver
uniprot_sec
Q5R3F6
resolver
uniprot_sec
Q96EW1
resolver
amino_acid_sequence
MAATAAAVVAEEDTELRDLLVQTLENSGVLNRIKAELRAAVFLALEEQEKVENKTPLVNESLKKFLNTKDGRLVASLVAEFLQFFNLDFTLAVFQPETSTLQGLEGRENLARDLGIIEAEGTVGGPLLLEVIRRCQQKEKGPTTGEGALDLSDVHSPPKSPEGKTSAQTTPSKIPRYKGQGKKKTSGQKAGDKKANDEANQSDTSVSLSEPKSKSSLHLLSHETKIGSFLSNRTLDGKDKAGLCPDEDDMEGDSFFDDPIPKPEKTYGLRKEPRKQAGSLASLSDAPPLKSGLSSLAGAPSLKDSESKRGNTVLKDLKLISDKIGSLGLGTGEDDDYVDDFNSTSHRSEKSEISIGEEIEEDLSVEIDDINTSDKLDDLTQDLTVSQLSDVADYLEDVA
uniprot
proteins
disease_involvement
DISEASE: Note=A chromosomal aberration involving CEP43 may be a cause of stem cell myeloproliferative disorder (MPD). Translocation t(6;8)(q27;p11) with FGFR1. MPD is characterized by myeloid hyperplasia, eosinophilia and T-cell or B-cell lymphoblastic lymphoma. In general it progresses to acute myeloid leukemia. The fusion proteins CEP43-FGFR1 or FGFR1-CEP43 may exhibit constitutive kinase activity and be responsible for the transforming activity (PubMed:9949182). {ECO:0000269|PubMed:9949182}.
uniprot
proteins
function
FUNCTION: Required for anchoring microtubules to the centrosomes (PubMed:16314388, PubMed:28659385). Required for ciliation (PubMed:28625565, PubMed:28659385). {ECO:0000269|PubMed:16314388, ECO:0000269|PubMed:28625565, ECO:0000269|PubMed:28659385}.
uniprot
proteins
mass_dalton
43065
uniprot
proteins
mutagenesis
MUTAGEN 74; /note="V->F: Abolishes homodimerization and leads to aggregation."; /evidence="ECO:0000269|PubMed:16690081
uniprot
proteins
protein_family
CEP43 family
uniprot
proteins
pubmed
14574404
uniprot
proteins
pubmed
14654843
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15144186
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16314388
uniprot
proteins
pubmed
16690081
uniprot
proteins
pubmed
17081983
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
28428259
uniprot
proteins
pubmed
28625565
uniprot
proteins
pubmed
28659385
uniprot
proteins
pubmed
32946374
uniprot
proteins
pubmed
9949182
uniprot
proteins
sequence_length
399
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:14654843, ECO:0000269|PubMed:16314388, ECO:0000269|PubMed:16690081, ECO:0000269|PubMed:28659385}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole {ECO:0000269|PubMed:28428259, ECO:0000269|PubMed:28625565, ECO:0000269|PubMed:28659385, ECO:0000269|PubMed:32946374}. Cytoplasm, cytoskeleton, cilium basal body {ECO:0000269|PubMed:28659385}. Note=Associated with gamma-tubulin (PubMed:16314388). Localizes on both mother and daughter centrioles (PubMed:28428259, PubMed:28625565). Localizes to an axial position on the mother centriole (PubMed:28625565). Localizes to the distal end of the centriole partly on the subdistal appendage region (PubMed:28659385). {ECO:0000269|PubMed:16314388, ECO:0000269|PubMed:28428259, ECO:0000269|PubMed:28625565, ECO:0000269|PubMed:28659385}.
uniprot
proteins