SDCCAG8
entrez
10806
canonical
uniprot
Q86SQ7
canonical
ensembl
ENSG00000054282
resolver
ensembl
ENSG00000276111
resolver
ensp
ENSP00000355499
resolver
ensp
ENSP00000554139
resolver
genesymbol
SDCCAG8
resolver
genesymbol_syn
CCCAP
resolver
genesymbol_syn
NPHP10
resolver
hgnc
HGNC:10671
resolver
uniprot
O60527
resolver
uniprot
Q3ZCR6
resolver
uniprot
Q8N5F2
resolver
uniprot
Q9P0F1
resolver
uniprot_entry
SDCG8_HUMAN
resolver
uniprot_sec
O60527
resolver
uniprot_sec
Q3ZCR6
resolver
uniprot_sec
Q8N5F2
resolver
uniprot_sec
Q9P0F1
resolver
amino_acid_sequence
MAKSPENSTLEEILGQYQRSLREHASRSIHQLTCALKEGDVTIGEDAPNLSFSTSVGNEDARTAWPELQQSHAVNQLKDLLRQQADKESEVSPSRRRKMSPLRSLEHEETNMPTMHDLVHTINDQSQYIHHLEAEVKFCKEELSGMKNKIQVVVLENEGLQQQLKSQRQEETLREQTLLDASGNMHNSWITTGEDSGVGETSKRPFSHDNADFGKAASAGEQLELEKLKLTYEEKCEIEESQLKFLRNDLAEYQRTCEDLKEQLKHKEFLLAANTCNRVGGLCLKCAQHEAVLSQTHTNVHMQTIERLVKERDDLMSALVSVRSSLADTQQREASAYEQVKQVLQISEEANFEKTKALIQCDQLRKELERQAERLEKELASQQEKRAIEKDMMKKEITKEREYMGSKMLILSQNIAQLEAQVEKVTKEKISAINQLEEIQSQLASREMDVTKVCGEMRYQLNKTNMEKDEAEKEHREFRAKTNRDLEIKDQEIEKLRIELDESKQHLEQEQQKAALAREECLRLTELLGESEHQLHLTRQEKDSIQQSFSKEAKAQALQAQQREQELTQKIQQMEAQHDKTENEQYLLLTSQNTFLTKLKEECCTLAKKLEQISQKTRSEIAQLSQEKRYTYDKLGKLQRRNEELEEQCVQHGRVHETMKQRLRQLDKHSQATAQQLVQLLSKQNQLLLERQSLSEEVDRLRTQLPSMPQSDC
uniprot
proteins
disease_involvement
DISEASE: Senior-Loken syndrome 7 (SLSN7) [MIM:613615]: A renal-retinal disorder characterized by progressive wasting of the filtering unit of the kidney (nephronophthisis), with or without medullary cystic renal disease, and progressive eye disease. Typically this disorder becomes apparent during the first year of life. {ECO:0000269|PubMed:20835237}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Bardet-Biedl syndrome 16 (BBS16) [MIM:615993]: A syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and intellectual disability. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease. {ECO:0000269|PubMed:20835237, ECO:0000269|PubMed:22626039}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Plays a role in the establishment of cell polarity and epithelial lumen formation (By similarity). Also plays an essential role in ciliogenesis and subsequent Hedgehog signaling pathway that requires the presence of intact primary cilia for pathway activation. Mechanistically, interacts with and mediates RABEP2 centrosomal localization which is critical for ciliogenesis (PubMed:27224062). {ECO:0000250|UniProtKB:Q80UF4, ECO:0000269|PubMed:27224062}.
uniprot
proteins
mass_dalton
82682
uniprot
proteins
pubmed
11042152
uniprot
proteins
pubmed
12559564
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
20835237
uniprot
proteins
pubmed
22626039
uniprot
proteins
pubmed
22940612
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
27224062
uniprot
proteins
pubmed
9610721
uniprot
proteins
sequence_length
713
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:27224062}. Cytoplasm, cytoskeleton, cilium basal body {ECO:0000269|PubMed:27224062}. Cell junction. Note=Located at the distal ends of both centrioles and colocalizes to centrosomes throughout the cell cycle.; SUBCELLULAR LOCATION: [Isoform 2]: Cytoplasm.
uniprot
proteins