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Protein

Kelch domain-containing protein 8B

Gene

KLHDC8B

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 3 out of 5-Experimental evidence at transcript leveli

Names & Taxonomyi

Protein namesi
Recommended name:
Kelch domain-containing protein 8B
Gene namesi
Name:KLHDC8B
ORF Names:FP17659
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 3

Organism-specific databases

HGNCiHGNC:28557. KLHDC8B.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

Involvement in diseasei

Lymphoma, Hodgkin, classic (CHL)1 Publication
Disease susceptibility is associated with variations 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).1 Publication
Disease descriptionA 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.
See also OMIM:236000

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).

Organism-specific databases

MalaCardsiKLHDC8B.
MIMi236000. phenotype.
PharmGKBiPA142671584.

Polymorphism and mutation databases

BioMutaiKLHDC8B.
DMDMi74728248.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 354354Kelch domain-containing protein 8BPRO_0000119131Add
BLAST

Proteomic databases

EPDiQ8IXV7.
MaxQBiQ8IXV7.
PaxDbiQ8IXV7.
PeptideAtlasiQ8IXV7.
PRIDEiQ8IXV7.

PTM databases

iPTMnetiQ8IXV7.
PhosphoSiteiQ8IXV7.

Expressioni

Developmental stagei

Transcribed predominantly during S phase, translated exclusively during mitosis and cytokinesis and rapidly degraded after cell division.1 Publication

Gene expression databases

BgeeiQ8IXV7.
CleanExiHS_KLHDC8B.
ExpressionAtlasiQ8IXV7. baseline and differential.
GenevisibleiQ8IXV7. HS.

Organism-specific databases

HPAiHPA008463.
HPA014467.

Interactioni

Protein-protein interaction databases

BioGridi128359. 4 interactions.
IntActiQ8IXV7. 1 interaction.
MINTiMINT-7970223.
STRINGi9606.ENSP00000327468.

Structurei

3D structure databases

ProteinModelPortaliQ8IXV7.
SMRiQ8IXV7. Positions 8-336.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Repeati1 – 3131Kelch 1Add
BLAST
Repeati32 – 7948Kelch 2Add
BLAST
Repeati81 – 12747Kelch 3Add
BLAST
Repeati128 – 17548Kelch 4Add
BLAST
Repeati176 – 22247Kelch 5Add
BLAST
Repeati224 – 28158Kelch 6Add
BLAST
Repeati282 – 32948Kelch 7Add
BLAST
Repeati331 – 35424Kelch 8Add
BLAST

Sequence similaritiesi

Contains 8 Kelch repeats.Curated

Keywords - Domaini

Kelch repeat, Repeat

Phylogenomic databases

eggNOGiKOG1072. Eukaryota.
ENOG4110X8D. LUCA.
GeneTreeiENSGT00760000119153.
HOGENOMiHOG000065733.
HOVERGENiHBG055245.
InParanoidiQ8IXV7.
OMAiWTRYPSI.
OrthoDBiEOG7W41C3.
PhylomeDBiQ8IXV7.

Family and domain databases

Gene3Di2.120.10.80. 2 hits.
InterProiIPR015915. Kelch-typ_b-propeller.
IPR006652. Kelch_1.
[Graphical view]
PfamiPF01344. Kelch_1. 4 hits.
[Graphical view]
SMARTiSM00612. Kelch. 6 hits.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q8IXV7-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MSAGGGRAFA WQVFPPMPTC RVYGTVAHQD GHLLVLGGCG RAGLPLDTAE
60 70 80 90 100
TLDMASHTWL ALAPLPTARA GAAAVVLGKQ VLVVGGVDEV QSPVAAVEAF
110 120 130 140 150
LMDEGRWERR ATLPQAAMGV ATVERDGMVY ALGGMGPDTA PQAQVRVYEP
160 170 180 190 200
RRDCWLSLPS MPTPCYGAST FLHGNKIYVL GGRQGKLPVT AFEAFDLEAR
210 220 230 240 250
TWTRHPSLPS RRAFAGCAMA EGSVFSLGGL QQPGPHNFYS RPHFVNTVEM
260 270 280 290 300
FDLEHGSWTK LPRSLRMRDK RADFVVGSLG GHIVAIGGLG NQPCPLGSVE
310 320 330 340 350
SFSLARRRWE ALPAMPTARC SCSSLQAGPR LFVIGGVAQG PSQAVEALCL

RDGV
Length:354
Mass (Da):37,676
Last modified:March 1, 2003 - v1
Checksum:i91305FE1EE0783FC
GO

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY129011 mRNA. Translation: AAM98754.1.
BC039083 mRNA. Translation: AAH39083.1.
CCDSiCCDS2791.1.
RefSeqiNP_775817.1. NM_173546.2.
UniGeneiHs.13781.

Genome annotation databases

EnsembliENST00000332780; ENSP00000327468; ENSG00000185909.
GeneIDi200942.
KEGGihsa:200942.
UCSCiuc003cwh.4. human.

Keywords - Coding sequence diversityi

Chromosomal rearrangement

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY129011 mRNA. Translation: AAM98754.1.
BC039083 mRNA. Translation: AAH39083.1.
CCDSiCCDS2791.1.
RefSeqiNP_775817.1. NM_173546.2.
UniGeneiHs.13781.

3D structure databases

ProteinModelPortaliQ8IXV7.
SMRiQ8IXV7. Positions 8-336.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi128359. 4 interactions.
IntActiQ8IXV7. 1 interaction.
MINTiMINT-7970223.
STRINGi9606.ENSP00000327468.

PTM databases

iPTMnetiQ8IXV7.
PhosphoSiteiQ8IXV7.

Polymorphism and mutation databases

BioMutaiKLHDC8B.
DMDMi74728248.

Proteomic databases

EPDiQ8IXV7.
MaxQBiQ8IXV7.
PaxDbiQ8IXV7.
PeptideAtlasiQ8IXV7.
PRIDEiQ8IXV7.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000332780; ENSP00000327468; ENSG00000185909.
GeneIDi200942.
KEGGihsa:200942.
UCSCiuc003cwh.4. human.

Organism-specific databases

CTDi200942.
GeneCardsiKLHDC8B.
HGNCiHGNC:28557. KLHDC8B.
HPAiHPA008463.
HPA014467.
MalaCardsiKLHDC8B.
MIMi236000. phenotype.
613169. gene.
neXtProtiNX_Q8IXV7.
PharmGKBiPA142671584.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1072. Eukaryota.
ENOG4110X8D. LUCA.
GeneTreeiENSGT00760000119153.
HOGENOMiHOG000065733.
HOVERGENiHBG055245.
InParanoidiQ8IXV7.
OMAiWTRYPSI.
OrthoDBiEOG7W41C3.
PhylomeDBiQ8IXV7.

Miscellaneous databases

GenomeRNAii200942.
PROiQ8IXV7.
SOURCEiSearch...

Gene expression databases

BgeeiQ8IXV7.
CleanExiHS_KLHDC8B.
ExpressionAtlasiQ8IXV7. baseline and differential.
GenevisibleiQ8IXV7. HS.

Family and domain databases

Gene3Di2.120.10.80. 2 hits.
InterProiIPR015915. Kelch-typ_b-propeller.
IPR006652. Kelch_1.
[Graphical view]
PfamiPF01344. Kelch_1. 4 hits.
[Graphical view]
SMARTiSM00612. Kelch. 6 hits.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Large-scale cDNA transfection screening for genes related to cancer development and progression."
    Wan D., Gong Y., Qin W., Zhang P., Li J., Wei L., Zhou X., Li H., Qiu X., Zhong F., He L., Yu J., Yao G., Jiang H., Qian L., Yu Y., Shu H., Chen X.
    , Xu H., Guo M., Pan Z., Chen Y., Ge C., Yang S., Gu J.
    Proc. Natl. Acad. Sci. U.S.A. 101:15724-15729(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
  2. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Brain.
  3. "Mutations in a gene encoding a midbody kelch protein in familial and sporadic classical Hodgkin lymphoma lead to binucleated cells."
    Salipante S.J., Mealiffe M.E., Wechsler J., Krem M.M., Liu Y., Namkoong S., Bhagat G., Kirchhoff T., Offit K., Lynch H., Wiernik P.H., Roshal M., McMaster M.L., Tucker M., Fromm J.R., Goldin L.R., Horwitz M.S.
    Proc. Natl. Acad. Sci. U.S.A. 106:14920-14925(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: SUBCELLULAR LOCATION, DEVELOPMENTAL STAGE, CHROMOSOMAL TRANSLOCATION, INVOLVEMENT IN CHL.

Entry informationi

Entry nameiKLD8B_HUMAN
AccessioniPrimary (citable) accession number: Q8IXV7
Entry historyi
Integrated into UniProtKB/Swiss-Prot: December 20, 2005
Last sequence update: March 1, 2003
Last modified: July 6, 2016
This is version 103 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.