DRC4
entrez
2622
canonical
uniprot
O95995
canonical
ensembl
ENSG00000141013
resolver
ensp
ENSP00000268699
resolver
ensp
ENSP00000440977
resolver
ensp
ENSP00000482877
resolver
enst
ENST00000620723
resolver
genesymbol
DRC4
resolver
genesymbol_syn
GAS11
resolver
genesymbol_syn
GAS8
resolver
hgnc
HGNC:4166
resolver
uniprot
A0A087WZT7
resolver
uniprot
A0A384MR00
resolver
uniprot
B2RCT1
resolver
uniprot
B7Z1U9
resolver
uniprot
B7Z4U1
resolver
uniprot
G3V1L5
resolver
uniprot
Q2M234
resolver
uniprot_entry
A0A087WZT7_HUMAN
resolver
uniprot_entry
A0A384MR00_HUMAN
resolver
uniprot_entry
B7Z1U9_HUMAN
resolver
uniprot_entry
DRC4_HUMAN
resolver
uniprot_sec
B2RCT1
resolver
uniprot_sec
B7Z4U1
resolver
uniprot_sec
G3V1L5
resolver
uniprot_sec
Q2M234
resolver
amino_acid_sequence
MAPKKKGKKGKAKGTPIVDGLAPEDMSKEQVEEHVSRIREELDREREERNYFQLERDKIHTFWEITRRQLEEKKAELRNKDREMEEAEERHQVEIKVYKQKVKHLLYEHQNNLTEMKAEGTVVMKLAQKEHRIQESVLRKDMRALKVELKEQELASEVVVKNLRLKHTEEITRMRNDFERQVREIEAKYDKKMKMLRDELDLRRKTELHEVEERKNGQIHTLMQRHEEAFTDIKNYYNDITLNNLALINSLKEQMEDMRKKEDHLEREMAEVSGQNKRLADPLQKAREEMSEMQKQLANYERDKQILLCTKARLKVREKELKDLQWEHEVLEQRFTKVQQERDELYRKFTAAIQEVQQKTGFKNLVLERKLQALSAAVEKKEVQFNEVLAASNLDPAALTLVSRKLEDVLESKNSTIKDLQYELAQVCKAHNDLLRTYEAKLLAFGIPLDNVGFKPLETAVIGQTLGQGPAGLVGTPT
uniprot
proteins
disease_involvement
DISEASE: Ciliary dyskinesia, primary, 33 (CILD33) [MIM:616726]: A form of primary ciliary dyskinesia, 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. CILD33 inheritance is autosomal recessive. {ECO:0000269|PubMed:26387594, ECO:0000269|PubMed:27120127, ECO:0000269|PubMed:27472056}. 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. Plays an important role in the assembly of the N-DRC linker (By similarity). Plays dual roles at both the primary (or non-motile) cilia to regulate hedgehog signaling and in motile cilia to coordinate cilia movement. Required for proper motile cilia functioning (PubMed:26387594, PubMed:27120127, PubMed:27472056). Positively regulates ciliary smoothened (SMO)-dependent Hedgehog (Hh) signaling pathway by facilitating the trafficking of SMO into the cilium and the stimulation of SMO activity in a GRK2-dependent manner (By similarity). {ECO:0000250|UniProtKB:Q60779, ECO:0000250|UniProtKB:Q7XJ96, ECO:0000269|PubMed:26387594, ECO:0000269|PubMed:27120127, ECO:0000269|PubMed:27472056}.
uniprot
proteins
mass_dalton
56356
uniprot
proteins
protein_family
DRC4 family
uniprot
proteins
pubmed
10969087
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15616553
uniprot
proteins
pubmed
16643277
uniprot
proteins
pubmed
21659505
uniprot
proteins
pubmed
26387594
uniprot
proteins
pubmed
27120127
uniprot
proteins
pubmed
27472056
uniprot
proteins
pubmed
34169321
uniprot
proteins
pubmed
9790751
uniprot
proteins
sequence_length
478
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:Q60779}. Cytoplasm, cytoskeleton {ECO:0000269|PubMed:10969087}. Cell projection, cilium, flagellum {ECO:0000250|UniProtKB:Q60779}. Cytoplasm, cytoskeleton, cilium axoneme {ECO:0000269|PubMed:16643277, ECO:0000269|PubMed:26387594}. Cytoplasm, cytoskeleton, cilium basal body {ECO:0000250|UniProtKB:Q60779}. Golgi apparatus {ECO:0000269|PubMed:16643277}. Cell projection, cilium {ECO:0000269|PubMed:27120127}. Cytoplasm, cytoskeleton, flagellum axoneme {ECO:0000250|UniProtKB:Q7XJ96}. Note=Associates with microtubules (PubMed:10969087). Localized to the cytoplasm of round spermatids, the tails of elongating spermatids, and mature spermatid tail bundles protruding into the lumen, and in the flagellum of epididymal spermatozoa (By similarity). {ECO:0000250|UniProtKB:Q60779, ECO:0000269|PubMed:10969087}.
uniprot
proteins