Version 5.4
Homo sapiens Protein: KLHDC8B
Summary
InnateDB Protein IDBP-34534.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol KLHDC8B
Protein Name kelch domain containing 8B
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000327468
InnateDB Gene IDBG-34532 (KLHDC8B)
Protein Structure
UniProt Annotation
Function
Subcellular Localization Cytoplasm {ECO:0000269PubMed:19706467}. Note=In mitotic cells, concentrates in the midbody of the cytoplasmic bridge linking daughter cells as they are about to separate during cytokinesis.
Disease Associations Hodgkin lymphoma (HL) [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:0000269PubMed:19706467}. Note=The disease is caused by mutations 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:0000269PubMed:19706467}.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).
Tissue Specificity
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 3 experimentally validated interaction(s) in this database.
Experimentally validated
Total 3 [view]
Protein-Protein 3 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
Biological Process
Cellular Component
GO:0005737 cytoplasm
Protein Structure and Domains
PDB ID
InterPro IPR006652 Kelch repeat type 1
PFAM PF01344
PRINTS
PIRSF
SMART SM00612
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q8IXV7
PhosphoSite PhosphoSite-Q8IXV7
TrEMBL A0A024R2X4
UniProt Splice Variant
Entrez Gene 200942
UniGene Hs.738436
RefSeq NP_775817
HUGO HGNC:28557
OMIM 613169
CCDS CCDS2791
HPRD 14598
IMGT
EMBL AY129011 BC039083 CH471055
GenPept AAH39083 AAM98754 EAW64962 EAW64963

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca