KLHDC8B
entrez
200942
canonical
uniprot
Q8IXV7
canonical
ensembl
ENSG00000185909
resolver
ensp
ENSP00000327468
resolver
ensp
ENSP00000574880
resolver
ensp
ENSP00000618606
resolver
ensp
ENSP00000618609
resolver
ensp
ENSP00000618610
resolver
enst
ENST00000332780
resolver
enst
ENST00000948551
resolver
genesymbol
KLHDC8B
resolver
hgnc
HGNC:28557
resolver
uniprot
Q96DZ8
resolver
uniprot_entry
KLD8B_HUMAN
resolver
uniprot_entry
Q96DZ8_HUMAN
resolver
amino_acid_sequence
MSAGGGRAFAWQVFPPMPTCRVYGTVAHQDGHLLVLGGCGRAGLPLDTAETLDMASHTWLALAPLPTARAGAAAVVLGKQVLVVGGVDEVQSPVAAVEAFLMDEGRWERRATLPQAAMGVATVERDGMVYALGGMGPDTAPQAQVRVYEPRRDCWLSLPSMPTPCYGASTFLHGNKIYVLGGRQGKLPVTAFEAFDLEARTWTRHPSLPSRRAFAGCAMAEGSVFSLGGLQQPGPHNFYSRPHFVNTVEMFDLEHGSWTKLPRSLRMRDKRADFVVGSLGGHIVAIGGLGNQPCPLGSVESFSLARRRWEALPAMPTARCSCSSLQAGPRLFVIGGVAQGPSQAVEALCLRDGV
uniprot
proteins
disease_involvement
DISEASE: Lymphoma, Hodgkin, classic (CHL) [MIM:236000]: A malignant disease characterized by progressive enlargement of the lymph nodes, spleen and general lymphoid tissue, and the presence of large, usually multinucleate, cells (Reed-Sternberg cells). Reed-Sternberg cells compose only 1-2% of the total tumor cell mass. The remainder is composed of a variety of reactive, mixed inflammatory cells consisting of lymphocytes, plasma cells, neutrophils, eosinophils and histiocytes. {ECO:0000269|PubMed:19706467}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry. A variant in the 5'-UTR of KLHDC8B, responsible for decreasing its expression, is associated with classic Hodgkin lymphoma and segregates with the disease in some families (PubMed:19706467). {ECO:0000269|PubMed:19706467}.; DISEASE: Note=A chromosomal aberration disrupting KLHDC8B has been found in a family with the nodular sclerosis type of Hodgkin lymphoma. Translocation t(2,3)(q11.2;p21.31).
uniprot
proteins
function
FUNCTION: Involved in pinching off the separated nuclei at the cleavage furrow and in cytokinesis (PubMed:20107318). Required for mitotic integrity and maintenance of chromosomal stability. Protects cells against mitotic errors, centrosomal amplification, micronucleus formation and aneuploidy. Plays a key role of midbody function involving abscission of the daughter cells during cytokinesis and appropriate chromosomal and nuclear segregation into the daughter cells (PubMed:22988245, PubMed:23713010). {ECO:0000269|PubMed:20107318, ECO:0000269|PubMed:22988245, ECO:0000269|PubMed:23713010}.
uniprot
proteins
mass_dalton
37676
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15498874
uniprot
proteins
pubmed
19706467
uniprot
proteins
pubmed
20107318
uniprot
proteins
pubmed
22988245
uniprot
proteins
pubmed
23713010
uniprot
proteins
sequence_length
354
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:19706467, ECO:0000269|PubMed:20107318}. Midbody {ECO:0000269|PubMed:19706467, ECO:0000269|PubMed:20107318}. Note=In mitotic cells, concentrates in the midbody of the cytoplasmic bridge linking daughter cells as they are about to separate during cytokinesis. {ECO:0000269|PubMed:19706467, ECO:0000269|PubMed:20107318}.
uniprot
proteins