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Q8NFY9 (KBTB8_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 81. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Kelch repeat and BTB domain-containing protein 8
Alternative name(s):
T-cell activation kelch repeat protein
Short name=TA-KRP
Gene names
Name:KBTBD8
Synonyms:KIAA1842, TAKRP
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length601 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

Subcellular location

Cytoplasmcytoskeletonspindle. Golgi apparatus. Note: Translocates to the spindle apparatus during mitosis. Ref.7

Sequence similarities

Contains 1 BACK (BTB/Kelch associated) domain.

Contains 1 BTB (POZ) domain.

Contains 5 Kelch repeats.

Sequence caution

The sequence AAI17488.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

The sequence AAM43839.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

Ontologies

Keywords
   Cellular componentCytoplasm
Cytoskeleton
Golgi apparatus
   Coding sequence diversityPolymorphism
   DomainKelch repeat
Repeat
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Cellular_componentGolgi apparatus

Inferred from electronic annotation. Source: UniProtKB-SubCell

spindle

Inferred from electronic annotation. Source: UniProtKB-SubCell

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 601601Kelch repeat and BTB domain-containing protein 8
PRO_0000278220

Regions

Domain49 – 11769BTB
Domain152 – 254103BACK
Repeat336 – 39055Kelch 1
Repeat391 – 44151Kelch 2
Repeat443 – 48139Kelch 3
Repeat483 – 53250Kelch 4
Repeat542 – 58847Kelch 5

Natural variations

Natural variant1981S → C in a breast cancer sample; somatic mutation. Ref.8
VAR_036082
Natural variant4051R → K in a breast cancer sample; somatic mutation. Ref.8
VAR_036083
Natural variant4201C → R.
Corresponds to variant rs13096789 [ dbSNP | Ensembl ].
VAR_030694

Sequences

Sequence LengthMass (Da)Tools
Q8NFY9 [UniParc].

Last modified February 20, 2007. Version 2.
Checksum: E5DC921FD9C10BBA

FASTA60168,823
        10         20         30         40         50         60 
MAASADLSKS SPTPNGIPSS DPASDAMDPF HACSILKQLK TMYDEGQLTD IVVEVDHGKT 

        70         80         90        100        110        120 
FSCHRNVLAA ISPYFRSMFT SGLTESTQKE VRIVGVEAES MDLVLNYAYT SRVILTEANV 

       130        140        150        160        170        180 
QALFTAASIF QIPSIQDQCA KYMISHLDPQ NSIGVFIFAD HYGHQELGDR SKEYIRKKFL 

       190        200        210        220        230        240 
CVTKEQEFLQ LTKDQLISIL DSDDLNVDRE EHVYESIIRW FEHEQNEREV HLPEIFAKCI 

       250        260        270        280        290        300 
RFPLMEDTFI EKIPPQFAQA IAKSCVEKGP SNTNGCTQRL GMTASEMIIC FDAAHKHSGK 

       310        320        330        340        350        360 
KQTVPCLDIV TGRVFKLCKP PNDLREVGIL VSPDNDIYIA GGYRPSSSEV SIDHKAENDF 

       370        380        390        400        410        420 
WMYDHSTNRW LSKPSLLRAR IGCKLVYCCG KMYAIGGRVY EGDGRNSLKS VECYDSRENC 

       430        440        450        460        470        480 
WTTVCAMPVA MEFHNAVEYK EKIYVLQGEF FLFYEPQKDY WGFLTPMTVP RIQGLAAVYK 

       490        500        510        520        530        540 
DSIYYIAGTC GNHQRMFTVE AYDIELNKWT RKKDFPCDQS INPYLKLVLF QNKLHLFVRA 

       550        560        570        580        590        600 
TQVTVEEHVF RTSRKNSLYQ YDDIADQWMK VYETPDRLWD LGRHFECAVA KLYPQCLQKV 


L 

« Hide

References

« Hide 'large scale' references
[1]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
Tissue: Fetal brain.
[2]"The DNA sequence, annotation and analysis of human chromosome 3."
Muzny D.M., Scherer S.E., Kaul R., Wang J., Yu J., Sudbrak R., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J. expand/collapse author list , Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R., Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Morgan M.B., Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Wei S., Wheeler D.A., Wright M.W., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., Clendenning J., Clerc-Blankenburg K.P., Chen R., Chen Z., Davis C., Delgado O., Dinh H.H., Dong W., Draper H., Ernst S., Fu G., Gonzalez-Garay M.L., Garcia D.K., Gillett W., Gu J., Hao B., Haugen E., Havlak P., He X., Hennig S., Hu S., Huang W., Jackson L.R., Jacob L.S., Kelly S.H., Kube M., Levy R., Li Z., Liu B., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Palmeiri A., Pasternak S., Perez L.M., Phelps K.A., Plopper F.J., Qiang B., Raymond C., Rodriguez R., Saenphimmachak C., Santibanez J., Shen H., Shen Y., Subramanian S., Tabor P.E., Verduzco D., Waldron L., Wang J., Wang J., Wang Q., Williams G.A., Wong G.K.-S., Yao Z., Zhang J., Zhang X., Zhao G., Zhou J., Zhou Y., Nelson D., Lehrach H., Reinhardt R., Naylor S.L., Yang H., Olson M., Weinstock G., Gibbs R.A.
Nature 440:1194-1198(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]"T lymphocyte activation gene discovery using ink-jet microarrays."
Mao M., Biery M.C., Kobayashi S.V., Schimmack G.A., Ward T.R., Schelter J.M., Burchard J., He Y.D., Dai H., Leonardson A., Coffey E., Stoughton R., Linsley P.S.
Submitted (MAY-2001) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 6-601.
Tissue: T-cell.
[4]"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] OF 18-601.
Tissue: Lung.
[5]"Prediction of the coding sequences of unidentified human genes. XX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro."
Nagase T., Nakayama M., Nakajima D., Kikuno R., Ohara O.
DNA Res. 8:85-95(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 76-575.
Tissue: Brain.
[6]"Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones."
Nakajima D., Okazaki N., Yamakawa H., Kikuno R., Ohara O., Nagase T.
DNA Res. 9:99-106(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: SEQUENCE REVISION.
[7]"The novel BTB-kelch protein, KBTBD8, is located in the Golgi apparatus and translocates to the spindle apparatus during mitosis."
Luhrig S., Kolb S., Mellies N., Nolte J.
Cell Div. 8:3-3(2013) [PubMed] [Europe PMC] [Abstract]
Cited for: SUBCELLULAR LOCATION.
[8]"The consensus coding sequences of human breast and colorectal cancers."
Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V. expand/collapse author list , Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W., Velculescu V.E.
Science 314:268-274(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS [LARGE SCALE ANALYSIS] CYS-198 AND LYS-405.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AK096640 mRNA. No translation available.
AC020655 Genomic DNA. No translation available.
AF385438 mRNA. Translation: AAM43839.1. Different initiation.
BC117487 mRNA. Translation: AAI17488.1. Different initiation.
AB058745 mRNA. Translation: BAB47471.1.
RefSeqNP_115894.2. NM_032505.2.
UniGeneHs.116665.

3D structure databases

ProteinModelPortalQ8NFY9.
SMRQ8NFY9. Positions 23-267, 334-579.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid124128. 2 interactions.
STRING9606.ENSP00000295568.

PTM databases

PhosphoSiteQ8NFY9.

Polymorphism databases

DMDM126215728.

Proteomic databases

PaxDbQ8NFY9.
PRIDEQ8NFY9.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000295568; ENSP00000295568; ENSG00000163376.
ENST00000417314; ENSP00000401878; ENSG00000163376.
GeneID84541.
KEGGhsa:84541.
UCSCuc003dmy.3. human.

Organism-specific databases

CTD84541.
GeneCardsGC03P067132.
HGNCHGNC:30691. KBTBD8.
HPAHPA041285.
neXtProtNX_Q8NFY9.
PharmGKBPA142671641.
HUGESearch...
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG328379.
HOGENOMHOG000113200.
HOVERGENHBG100857.
InParanoidQ8NFY9.
KOK10475.
OMAIFAKCIR.
OrthoDBEOG75TMBB.
PhylomeDBQ8NFY9.
TreeFamTF332672.

Gene expression databases

ArrayExpressQ8NFY9.
BgeeQ8NFY9.
CleanExHS_KBTBD8.
GenevestigatorQ8NFY9.

Family and domain databases

Gene3D2.120.10.80. 1 hit.
3.30.710.10. 1 hit.
InterProIPR011705. BACK.
IPR000210. BTB/POZ-like.
IPR011333. BTB/POZ_fold.
IPR013069. BTB_POZ.
IPR028764. KBTBD8.
IPR017096. Kelch-like_gigaxonin-typ.
IPR015915. Kelch-typ_b-propeller.
IPR006652. Kelch_1.
[Graphical view]
PANTHERPTHR24412:SF24. PTHR24412:SF24. 1 hit.
PfamPF07707. BACK. 1 hit.
PF00651. BTB. 1 hit.
PF01344. Kelch_1. 3 hits.
[Graphical view]
PIRSFPIRSF037037. Kelch-like_protein_gigaxonin. 1 hit.
SMARTSM00875. BACK. 1 hit.
SM00225. BTB. 1 hit.
SM00612. Kelch. 3 hits.
[Graphical view]
SUPFAMSSF54695. SSF54695. 1 hit.
PROSITEPS50097. BTB. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi84541.
NextBio74398.
PROQ8NFY9.

Entry information

Entry nameKBTB8_HUMAN
AccessionPrimary (citable) accession number: Q8NFY9
Secondary accession number(s): Q96JI5
Entry history
Integrated into UniProtKB/Swiss-Prot: February 20, 2007
Last sequence update: February 20, 2007
Last modified: April 16, 2014
This is version 81 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 3

Human chromosome 3: entries, gene names and cross-references to MIM