MKKS
entrez
8195
canonical
uniprot
Q9NPJ1
canonical
ensembl
ENSG00000125863
resolver
ensp
ENSP00000246062
resolver
ensp
ENSP00000382008
resolver
ensp
ENSP00000498849
resolver
enst
ENST00000347364
resolver
enst
ENST00000399054
resolver
enst
ENST00000651692
resolver
genesymbol
MKKS
resolver
genesymbol_syn
BBS6
resolver
hgnc
HGNC:7108
resolver
uniprot
A8K7B0
resolver
uniprot
B7Z3W9
resolver
uniprot
D3DW18
resolver
uniprot_entry
B7Z3W9_HUMAN
resolver
uniprot_entry
MKKS_HUMAN
resolver
uniprot_sec
A8K7B0
resolver
uniprot_sec
D3DW18
resolver
amino_acid_sequence
MSRLEAKKPSLCKSEPLTTERVRTTLSVLKRIVTSCYGPSGRLKQLHNGFGGYVCTTSQSSALLSHLLVTHPILKILTASIQNHVSSFSDCGLFTAILCCNLIENVQRLGLTPTTVIRLNKHLLSLCISYLKSETCGCRIPVDFSSTQILLCLVRSILTSKPACMLTRKETEHVSALILRAFLLTIPENAEGHIILGKSLIVPLKGQRVIDSTVLPGILIEMSEVQLMRLLPIKKSTALKVALFCTTLSGDTSDTGEGTVVVSYGVSLENAVLDQLLNLGRQLISDHVDLVLCQKVIHPSLKQFLNMHRIIAIDRIGVTLMEPLTKMTGTQPIGSLGSICPNSYGSVKDVCTAKFGSKHFFHLIPNEATICSLLLCNRNDTAWDELKLTCQTALHVLQLTLKEPWALLGGGCTETHLAAYIRHKTHNDPESILKDDECTQTELQLIAEAFCSALESVVGSLEHDGGEILTDMKYGHLWSVQADSPCVANWPDLLSQCGCGLYNSQEELNWSFLRSTRRPFVPQSCLPHEAVGSASNLTLDCLTAKLSGLQVAVETANLILDLSYVIEDKN
uniprot
proteins
disease_involvement
DISEASE: McKusick-Kaufman syndrome (MKKS) [MIM:236700]: Autosomal recessive developmental disorder. It is characterized by hydrometrocolpos, postaxial polydactyly and congenital heart defects. {ECO:0000269|PubMed:10802661, ECO:0000269|PubMed:28753627}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Bardet-Biedl syndrome 6 (BBS6) [MIM:605231]: 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:10973238, ECO:0000269|PubMed:10973251, ECO:0000269|PubMed:11179009, ECO:0000269|PubMed:11567139, ECO:0000269|PubMed:12107442, ECO:0000269|PubMed:12677556, ECO:0000269|PubMed:12920096, ECO:0000269|PubMed:15666242, ECO:0000269|PubMed:15731008, ECO:0000269|PubMed:15770229, ECO:0000269|PubMed:18094050, ECO:0000269|PubMed:20080638, ECO:0000269|PubMed:21344540, ECO:0000269|PubMed:22152675, ECO:0000269|PubMed:26900326, ECO:0000269|PubMed:28753627, ECO:0000269|PubMed:28761321}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Probable molecular chaperone that assists the folding of proteins upon ATP hydrolysis (PubMed:20080638). Plays a role in the assembly of BBSome, a complex involved in ciliogenesis regulating transports vesicles to the cilia (PubMed:20080638). May play a role in protein processing in limb, cardiac and reproductive system development. May play a role in cytokinesis (PubMed:28753627). {ECO:0000269|PubMed:20080638, ECO:0000269|PubMed:28753627}.
uniprot
proteins
mass_dalton
62342
uniprot
proteins
mutagenesis
MUTAGEN 454; /note="L->P: No effect on import to the nucleus."; /evidence="ECO:0000269|PubMed:28753627
uniprot
proteins
protein_family
TCP-1 chaperonin family
uniprot
proteins
pubmed
10802661
uniprot
proteins
pubmed
10973238
uniprot
proteins
pubmed
10973251
uniprot
proteins
pubmed
11179009
uniprot
proteins
pubmed
11567139
uniprot
proteins
pubmed
11780052
uniprot
proteins
pubmed
12107442
uniprot
proteins
pubmed
12677556
uniprot
proteins
pubmed
12837689
uniprot
proteins
pubmed
12920096
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15483080
uniprot
proteins
pubmed
15666242
uniprot
proteins
pubmed
15731008
uniprot
proteins
pubmed
15770229
uniprot
proteins
pubmed
16327777
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
18094050
uniprot
proteins
pubmed
20080638
uniprot
proteins
pubmed
20120035
uniprot
proteins
pubmed
21344540
uniprot
proteins
pubmed
22152675
uniprot
proteins
pubmed
26900326
uniprot
proteins
pubmed
28753627
uniprot
proteins
pubmed
28761321
uniprot
proteins
pubmed
33144677
uniprot
proteins
sequence_length
570
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cytoplasm, cytosol {ECO:0000269|PubMed:28753627}. Nucleus {ECO:0000269|PubMed:28753627}. Note=The majority of the protein resides within the pericentriolar material (PCM), a proteinaceous tube surrounding centrioles. During interphase, the protein is confined to the lateral surfaces of the PCM but during mitosis it relocalizes throughout the PCM and is found at the intercellular bridge. The MKSS protein is highly mobile and rapidly shuttles between the cytosol and centrosome.
uniprot
proteins