CCDC40
entrez
55036
canonical
uniprot
Q4G0X9
canonical
ensembl
ENSG00000141519
resolver
ensembl
ENSG00000291505
resolver
ensp
ENSP00000269318
resolver
ensp
ENSP00000364011
resolver
ensp
ENSP00000380679
resolver
genesymbol
CCDC40
resolver
genesymbol_syn
KIAA1640
resolver
hgnc
HGNC:26090
resolver
uniprot
A8MTD2
resolver
uniprot
C9JTI9
resolver
uniprot
C9JTJ0
resolver
uniprot
C9JXW1
resolver
uniprot
J3QSY2
resolver
uniprot
Q6PE47
resolver
uniprot
Q9HCD2
resolver
uniprot
Q9NWL5
resolver
uniprot_entry
CCD40_HUMAN
resolver
uniprot_sec
A8MTD2
resolver
uniprot_sec
C9JTI9
resolver
uniprot_sec
C9JTJ0
resolver
uniprot_sec
C9JXW1
resolver
uniprot_sec
J3QSY2
resolver
uniprot_sec
Q6PE47
resolver
uniprot_sec
Q9HCD2
resolver
uniprot_sec
Q9NWL5
resolver
amino_acid_sequence
MAEPGGAAGRSHPEDGSASEGEKEGNNESHMVSPPEKDDGQKGEEAVGSTEHPEEVTTQAEAAIEEGEVETEGEAAVEGEEEAVSYGDAESEEEYYYTETSSPEGQISAADTTYPYFSPPQELPGEEAYDSVSGEAGLQGFQQEATGPPESRERRVTSPEPSHGVLGPSEQMGQVTSGPAVGRLTGSTEEPQGQVLPMGVQHRFRLSHGSDIESSDLEEFVSQEPVIPPGVPDAHPREGDLPVFQDQIQQPSTEEGAMAERVESEGSDEEAEDEGSQLVVLDPDHPLMVRFQAALKNYLNRQIEKLKLDLQELVVATKQSRAQRQELGVNLYEVQQHLVHLQKLLEKSHDRHAMASSERRQKEEELQAARALYTKTCAAANEERKKLAALQTEMENLALHLFYMQNIDQDMRDDIRVMTQVVKKAETERIRAEIEKKKQDLYVDQLTTRAQQLEEDIALFEAQYLAQAEDTRILRKAVSEACTEIDAISVEKRRIMQQWASSLVGMKHRDEAHRAVLEALRGCQHQAKSTDGEIEAYKKSIMKEEEKNEKLASILNRTETEATLLQKLTTQCLTKQVALQSQFNTYRLTLQDTEDALSQDQLEQMILTEELQAIRQAIQGELELRRKTDAAIREKLQEHMTSNKTTKYFNQLILRLQKEKTNMMTHLSKINGDIAQTTLDITHTSSRLDAHQKTLVELDQDVKKVNELITNSQSEISRRTILIERKQGLINFLNKQLERMVSELGGEEVGPLELEIKRLSKLIDEHDGKAVQAQVTWLRLQQEMVKVTQEQEEQLASLDASKKELHIMEQKKLRVESKIEQEKKEQKEIEHHMKDLDNDLKKLNMLMNKNRCSSEELEQNNRVTENEFVRSLKASERETIKMQDKLNQLSEEKATLLNQLVEAEHQIMLWEKKIQLAKEMRSSVDSEIGQTEIRAMKGEIHRMKVRLGQLLKQQEKMIRAMELAVARRETVTTQAEGQRKMDRKALTRTDFHHKQLELRRKIRDVRKATDECTKTVLELEETQRNVSSSLLEKQEKLSVIQADFDTLEADLTRLGALKRQNLSEIVALQTRLKHLQAVKEGRYVFLFRSKQSLVLERQRLDKRLALIATILDRVRDEYPQFQEALHKVSQMIANKLESPGPS
uniprot
proteins
disease_involvement
DISEASE: Ciliary dyskinesia, primary, 15 (CILD15) [MIM:613808]: A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia; reduced fertility is often observed in male patients due to abnormalities of sperm tails. Half of the patients exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. {ECO:0000269|PubMed:21131974, ECO:0000269|PubMed:22693285, ECO:0000269|PubMed:23255504, ECO:0000269|PubMed:23402890, ECO:0000269|PubMed:25186273}. Note=The disease is caused by variants affecting the gene represented in this entry. The disease is characterized by primary ciliary dyskinesia with inner dynein arm (IDA) defects and axonemal dizorganisation: defects in CCDC39 and CCDC40 constitute the major cause of this phenotype. {ECO:0000269|PubMed:22693285, ECO:0000269|PubMed:23255504}.
uniprot
proteins
function
FUNCTION: Required for assembly of dynein regulatory complex (DRC) and inner dynein arm (IDA) complexes, which are responsible for ciliary beat regulation, thereby playing a central role in motility in cilia and flagella (PubMed:21131974). Probably acts together with CCDC39 to form a molecular ruler that determines the 96 nanometer (nm) repeat length and arrangements of components in cilia and flagella (By similarity). Not required for outer dynein arm complexes assembly. Required for axonemal recruitment of CCDC39 (PubMed:21131974). {ECO:0000250|UniProtKB:A8IQT2, ECO:0000269|PubMed:21131974}.
uniprot
proteins
mass_dalton
130113
uniprot
proteins
protein_family
CCDC40 family
uniprot
proteins
pubmed
10997877
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16625196
uniprot
proteins
pubmed
21131974
uniprot
proteins
pubmed
22693285
uniprot
proteins
pubmed
23255504
uniprot
proteins
pubmed
23402890
uniprot
proteins
pubmed
25186273
uniprot
proteins
pubmed
27120127
uniprot
proteins
sequence_length
1142
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:Q8BI79}. Cell projection, cilium {ECO:0000269|PubMed:27120127}. Note=Localizes to cytoplasm and motile cilium. {ECO:0000250|UniProtKB:Q8BI79}.
uniprot
proteins