DRC1
entrez
92749
canonical
uniprot
Q96MC2
canonical
ensembl
ENSG00000157856
resolver
ensp
ENSP00000288710
resolver
enst
ENST00000288710
resolver
genesymbol
DRC1
resolver
genesymbol_syn
C2orf39
resolver
genesymbol_syn
CCDC164
resolver
hgnc
HGNC:24245
resolver
uniprot
A8K1N8
resolver
uniprot
Q53R91
resolver
uniprot
Q53TA3
resolver
uniprot
Q8NDI5
resolver
uniprot_entry
DRC1_HUMAN
resolver
uniprot_sec
A8K1N8
resolver
uniprot_sec
Q53R91
resolver
uniprot_sec
Q53TA3
resolver
uniprot_sec
Q8NDI5
resolver
amino_acid_sequence
MNPPGSLEALDPNVDEHLSTQILAPSVHSDNSQERIQARRLRIAARLEARRREALGEYLDGKKESEEDQSKSYKQKEESRLKLAKLLLCGTELVTNIQVAIDIREIHRRVEEEEIKRQRIEKLENEVKTSQDKFDEITSKWEEGKQKRIPQELWEMLNTQQLHCAGLLEDKNKLISELQQELKTKDDQYVKDLKKQSDDICLLLERMEEQVKNVMKTFREELYNIEKAFEVERQELLASNKKKWEQALQAHNAKELEYLNNRMKKVEDYEKQLNRQRIWDCEEYNMIKIKLEQDVQILEQQLQQRKAIYQLNQEKLEYNLQVLKKRDEESTVIKSQQKRKINRLHDILNNLRSKYAKQIKQFQEENQSLTSDYKRLVMQFKELQKAMRHFALIDDEKFWEIWLMNEEEAKDLIARAFDVDRIIHTHHLGLPWAAPDFWFLNNVGPISQQPQKSATQIVEEMLMRSEEEEAEEAAAEPESYLDLPKQISEKTTKRILMLLCDESGFLIESKLLSLLLPLEQNECYLLRLDAIFSALGIESEDDLYKLVNFFLKYRAHRLSSSLQIKPCSQASMEKASMEETSTRSELELAEQTEMEGEKEESLVEGEKEEEEETPPSPWVIHPNDVLKILEAFVMGLKKPRDSRAPLRVQKNVRDNSKDSEYWQALTTVIPSSKQNLWDALYTALEKYHLVLTQRAKLLLENSSLEQQNTELQALLQQYLNSKINSELQVPPTQVLRVPTK
uniprot
proteins
disease_involvement
DISEASE: Ciliary dyskinesia, primary, 21 (CILD21) [MIM:615294]: 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. {ECO:0000269|PubMed:23354437, ECO:0000269|PubMed:25186273, ECO:0000269|PubMed:34815526, ECO:0000269|PubMed:35873463}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Spermatogenic failure 80 (SPGF80) [MIM:620222]: An autosomal recessive, male infertility disorder characterized by reduced or absent progressive sperm motility due to multiple morphologic abnormalities of the flagella, including short, coiled, absent, and irregular-caliber flagella. {ECO:0000269|PubMed:34169321}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Component of the nexin-dynein regulatory complex (N-DRC) a key regulator of ciliary/flagellar motility which maintains the alignment and integrity of the distal axoneme and regulates microtubule sliding in motile axonemes (By similarity). Plays a critical role in the assembly of N-DRC and also stabilizes the assembly of multiple inner dynein arms and radial spokes (PubMed:23354437, PubMed:34169321). Coassembles with DRC2 to form a central scaffold needed for assembly of the N-DRC and its attachment to the outer doublet microtubules (PubMed:23354437). {ECO:0000250|UniProtKB:P0DL09, ECO:0000269|PubMed:23354437, ECO:0000269|PubMed:34169321}.
uniprot
proteins
mass_dalton
87134
uniprot
proteins
protein_family
DRC1 family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
23354437
uniprot
proteins
pubmed
25186273
uniprot
proteins
pubmed
34169321
uniprot
proteins
pubmed
34815526
uniprot
proteins
pubmed
35873463
uniprot
proteins
sequence_length
740
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, cilium axoneme {ECO:0000250|UniProtKB:P0DL09}. Cytoplasm, cytoskeleton, flagellum axoneme {ECO:0000250|UniProtKB:P0DL09}.
uniprot
proteins