CCDC22
entrez
28952
canonical
uniprot
O60826
canonical
ensembl
ENSG00000101997
resolver
ensp
ENSP00000365401
resolver
ensp
ENSP00000575012
resolver
enst
ENST00000376227
resolver
genesymbol
CCDC22
resolver
genesymbol_syn
CXorf37
resolver
hgnc
HGNC:28909
resolver
uniprot
A8K7G1
resolver
uniprot_entry
CCD22_HUMAN
resolver
uniprot_sec
A8K7G1
resolver
amino_acid_sequence
MEEADRILIHSLRQAGTAVPPDVQTLRAFTTELVVEAVVRCLRVINPAVGSGLSPLLPLAMSARFRLAMSLAQACMDLGYPLELGYQNFLYPSEPDLRDLLLFLAERLPTDASEDADQPAGDSAILLRAIGSQIRDQLALPWVPPHLRTPKLQHLQGSALQKPFHASRLVVPELSSRGEPREFQASPLLLPVPTQVPQPVGRVASLLEHHALQLCQQTGRDRPGDEDWVHRTSRLPPQEDTRAQRQRLQKQLTEHLRQSWGLLGAPIQARDLGELLQAWGAGAKTGAPKGSRFTHSEKFTFHLEPQAQATQVSDVPATSRRPEQVTWAAQEQELESLREQLEGVNRSIEEVEADMKTLGVSFVQAESECRHSKLSTAEREQALRLKSRAVELLPDGTANLAKLQLVVENSAQRVIHLAGQWEKHRVPLLAEYRHLRKLQDCRELESSRRLAEIQELHQSVRAAAEEARRKEEVYKQLMSELETLPRDVSRLAYTQRILEIVGNIRKQKEEITKILSDTKELQKEINSLSGKLDRTFAVTDELVFKDAKKDDAVRKAYKYLAALHENCSQLIQTIEDTGTIMREVRDLEEQIETELGKKTLSNLEKIREDYRALRQENAGLLGRVREA
uniprot
proteins
disease_involvement
DISEASE: Ritscher-Schinzel syndrome 2 (RTSC2) [MIM:300963]: A form of Ritscher-Schinzel syndrome, a developmental malformation syndrome characterized by cerebellar brain malformations, congenital heart defects, and craniofacial abnormalities. RTSC2 is an X-linked recessive form characterized by intellectual disability associated with posterior fossa defects, cardiac malformations, and minor abnormalities of the face and distal extremities. {ECO:0000269|PubMed:21826058, ECO:0000269|PubMed:23563313, ECO:0000269|PubMed:24916641}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Component of the commander complex that is essential for endosomal recycling of transmembrane cargos; the Commander complex is composed of composed of the CCC subcomplex and the retriever subcomplex (PubMed:37172566, PubMed:38459129). Component of the CCC complex, which is involved in the regulation of endosomal recycling of surface proteins, including integrins, signaling receptor and channels (PubMed:37172566, PubMed:38459129). Involved in regulation of NF-kappa-B signaling (PubMed:23563313). Promotes ubiquitination of I-kappa-B-kinase subunit IKBKB and its subsequent proteasomal degradation leading to NF-kappa-B activation; the function may involve association with COMMD8 and a CUL1-dependent E3 ubiquitin ligase complex (PubMed:23563313). May down-regulate NF-kappa-B activity via association with COMMD1 and involving a CUL2-dependent E3 ubiquitin ligase complex. Regulates the cellular localization of COMM domain-containing proteins, such as COMMD1 and COMMD10 (PubMed:23563313). Component of the CCC complex, which is involved in the regulation of endosomal recycling of surface proteins, including integrins, signaling receptor and channels. The CCC complex associates with SNX17, retriever and WASH complexes to prevent lysosomal degradation and promote cell surface recycling of numerous cargos such as integrins ITGA5:ITGB1 (PubMed:25355947, PubMed:28892079). Plays a role in copper ion homeostasis (PubMed:25355947). Involved in copper-dependent ATP7A trafficking between the trans-Golgi network and vesicles in the cell periphery; the function is proposed to depend on its association within the CCC complex and cooperation with the WASH complex on early endosomes (PubMed:25355947). {ECO:0000269|PubMed:23563313, ECO:0000269|PubMed:25355947, ECO:0000269|PubMed:28892079, ECO:0000269|PubMed:37172566, ECO:0000269|PubMed:38459129}.; FUNCTION: (Microbial infection) The CCC complex, in collaboration with the heterotrimeric retriever complex, mediates the exit of human papillomavirus to the cell surface. {ECO:0000269|PubMed:28892079}.
uniprot
proteins
mass_dalton
70756
uniprot
proteins
protein_family
CCDC22 family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
18088087
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21826058
uniprot
proteins
pubmed
23092983
uniprot
proteins
pubmed
23563313
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
24916641
uniprot
proteins
pubmed
25355947
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
26638075
uniprot
proteins
pubmed
28892079
uniprot
proteins
pubmed
37172566
uniprot
proteins
pubmed
38459129
uniprot
proteins
pubmed
38504028
uniprot
proteins
sequence_length
627
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Endosome {ECO:0000305|PubMed:28892079}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:26638075}.
uniprot
proteins