ODAD1
entrez
93233
canonical
uniprot
Q96M63
canonical
ensembl
ENSG00000105479
resolver
ensp
ENSP00000318429
resolver
ensp
ENSP00000501363
resolver
ensp
ENSP00000529841
resolver
ensp
ENSP00000529842
resolver
ensp
ENSP00000634425
resolver
enst
ENST00000674294
resolver
enst
ENST00000859782
resolver
enst
ENST00000859783
resolver
enst
ENST00000964366
resolver
genesymbol
ODAD1
resolver
genesymbol_syn
CCDC114
resolver
hgnc
HGNC:26560
resolver
uniprot
A0A6I8PTZ2
resolver
uniprot
Q6ZRL4
resolver
uniprot
Q96M06
resolver
uniprot
Q9UFG8
resolver
uniprot_entry
A0A6I8PTZ2_HUMAN
resolver
uniprot_entry
ODAD1_HUMAN
resolver
uniprot_sec
Q6ZRL4
resolver
uniprot_sec
Q96M06
resolver
uniprot_sec
Q9UFG8
resolver
amino_acid_sequence
MEGERRAYSKEVHQRINKQLEEIRRLEEVRGDLQVQISAAQNQVKRLRDSQRLENMDRLLKGRAQVQAEIEELQEQTRALDKQIQEWETRIFTHSKNVRSPGFILDQKVKIRRRIRILENQLDRVTCHFDNQLVRNAALREELDLLRIDRNRYLNVDRKLKKEIHHLHHLVSTLILSSTSAYAVREEAKAKMGLLRERAEKEEAQSEMEAQVLQRQILHLEQLHHFLKLKNNDRQPDPDVLEKREKQAGEVAEGVWKTSQERLVLCYEDALNKLSQLMGESDPDLLVQKYLEIEERNFAEFNFINEQNLELEHVQEEIKEMQEALVSARASKDDQHLLQEQQQKVLQQRMDKVHSEAERLEARFQDVRGQLEKLKADIQLLFTKAHCDSSMIDDLLGVKTSMGDRDMGLFLSLIEKRLVELLTVQAFLHAQSFTSLADAALLVLGQSLEDLPKKMAPLQPPDTLEDPPGFEASDDYPMSREELLSQVEKLVELQEQAEAQRQKDLAAAAAKLDGTLSVDLASTQRAGSSTVLVPTRHPHAIPGSILSHKTSRDRGSLGHVTFGGLSSSTGHLPSHITHGDPNTGHVTFGSTSASSGGHVTFRPVSASSYLGSTGYVGSSRGGENTEGGVESGGTASDSSGGLGSSRDHVSSTGPASSTGPGSSTSKDSRG
uniprot
proteins
disease_involvement
DISEASE: Ciliary dyskinesia, primary, 20 (CILD20) [MIM:615067]: 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. Patients may 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. Unlike other forms of CILD characterized by reduced fertility, patients with CILD20 do not appear to be infertile. {ECO:0000269|PubMed:23261302, ECO:0000269|PubMed:23261303}. Note=The disease is caused by variants affecting the gene represented in this entry. The genetic variation producing the missense variant p.A248T, associated with CILD20, has been shown to predominantly affect splicing, yielding aberrant transcripts carrying premature translation termination signals. Only very low expression levels of the transcript carrying the missense could be detected in patients' nasal epithelial cells. {ECO:0000269|PubMed:23261302, ECO:0000269|PubMed:23261303}.
uniprot
proteins
function
FUNCTION: Component of the outer dynein arm-docking complex (ODA-DC) that mediates outer dynein arms (ODA) binding onto the doublet microtubule. Involved in mediating assembly of both ODAs and their axonemal docking complex onto ciliary microtubules (By similarity). {ECO:0000250|UniProtKB:F1N2N9, ECO:0000269|PubMed:27486780, ECO:0000305|PubMed:23261302, ECO:0000305|PubMed:23261303}.
uniprot
proteins
mass_dalton
75046
uniprot
proteins
protein_family
ODA1/DCC2 family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15057824
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
23261302
uniprot
proteins
pubmed
23261303
uniprot
proteins
pubmed
25192045
uniprot
proteins
pubmed
27486780
uniprot
proteins
pubmed
30148830
uniprot
proteins
pubmed
30471718
uniprot
proteins
sequence_length
670
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, cilium axoneme {ECO:0000269|PubMed:23261303, ECO:0000269|PubMed:25192045}.
uniprot
proteins