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Q8NFY9

- KBTB8_HUMAN

UniProt

Q8NFY9 - KBTB8_HUMAN

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Protein

Kelch repeat and BTB domain-containing protein 8

Gene

KBTBD8

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

Names & Taxonomyi

Protein namesi
Recommended name:
Kelch repeat and BTB domain-containing protein 8
Alternative name(s):
T-cell activation kelch repeat protein
Short name:
TA-KRP
Gene namesi
Name:KBTBD8
Synonyms:KIAA1842, TAKRP
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 3

Organism-specific databases

HGNCiHGNC:30691. KBTBD8.

Subcellular locationi

Cytoplasmcytoskeletonspindle 1 Publication. Golgi apparatus 1 Publication
Note: Translocates to the spindle apparatus during mitosis.

GO - Cellular componenti

  1. cytoskeleton Source: UniProtKB-KW
  2. Golgi apparatus Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Cytoskeleton, Golgi apparatus

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA142671641.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 601601Kelch repeat and BTB domain-containing protein 8PRO_0000278220Add
BLAST

Proteomic databases

MaxQBiQ8NFY9.
PaxDbiQ8NFY9.
PRIDEiQ8NFY9.

PTM databases

PhosphoSiteiQ8NFY9.

Expressioni

Gene expression databases

BgeeiQ8NFY9.
CleanExiHS_KBTBD8.
ExpressionAtlasiQ8NFY9. baseline and differential.
GenevestigatoriQ8NFY9.

Organism-specific databases

HPAiHPA041285.

Interactioni

Protein-protein interaction databases

BioGridi124128. 2 interactions.
STRINGi9606.ENSP00000295568.

Structurei

3D structure databases

ProteinModelPortaliQ8NFY9.
SMRiQ8NFY9. Positions 29-267, 337-509.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini49 – 11769BTBPROSITE-ProRule annotationAdd
BLAST
Domaini152 – 254103BACKAdd
BLAST
Repeati336 – 39055Kelch 1Add
BLAST
Repeati391 – 44151Kelch 2Add
BLAST
Repeati443 – 48139Kelch 3Add
BLAST
Repeati483 – 53250Kelch 4Add
BLAST
Repeati542 – 58847Kelch 5Add
BLAST

Sequence similaritiesi

Contains 1 BTB (POZ) domain.PROSITE-ProRule annotation
Contains 5 Kelch repeats.Curated

Keywords - Domaini

Kelch repeat, Repeat

Phylogenomic databases

eggNOGiNOG328379.
GeneTreeiENSGT00770000120450.
HOGENOMiHOG000113200.
HOVERGENiHBG100857.
InParanoidiQ8NFY9.
KOiK10475.
OMAiIFAKCIR.
OrthoDBiEOG75TMBB.
PhylomeDBiQ8NFY9.
TreeFamiTF332672.

Family and domain databases

Gene3Di2.120.10.80. 1 hit.
3.30.710.10. 1 hit.
InterProiIPR011705. 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]
PANTHERiPTHR24412:SF24. PTHR24412:SF24. 1 hit.
PfamiPF07707. BACK. 1 hit.
PF00651. BTB. 1 hit.
PF01344. Kelch_1. 3 hits.
[Graphical view]
PIRSFiPIRSF037037. Kelch-like_protein_gigaxonin. 1 hit.
SMARTiSM00875. BACK. 1 hit.
SM00225. BTB. 1 hit.
SM00612. Kelch. 3 hits.
[Graphical view]
SUPFAMiSSF54695. SSF54695. 1 hit.
PROSITEiPS50097. BTB. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q8NFY9-1) [UniParc]FASTAAdd to Basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MAASADLSKS SPTPNGIPSS DPASDAMDPF HACSILKQLK TMYDEGQLTD
60 70 80 90 100
IVVEVDHGKT FSCHRNVLAA ISPYFRSMFT SGLTESTQKE VRIVGVEAES
110 120 130 140 150
MDLVLNYAYT SRVILTEANV QALFTAASIF QIPSIQDQCA KYMISHLDPQ
160 170 180 190 200
NSIGVFIFAD HYGHQELGDR SKEYIRKKFL CVTKEQEFLQ LTKDQLISIL
210 220 230 240 250
DSDDLNVDRE EHVYESIIRW FEHEQNEREV HLPEIFAKCI RFPLMEDTFI
260 270 280 290 300
EKIPPQFAQA IAKSCVEKGP SNTNGCTQRL GMTASEMIIC FDAAHKHSGK
310 320 330 340 350
KQTVPCLDIV TGRVFKLCKP PNDLREVGIL VSPDNDIYIA GGYRPSSSEV
360 370 380 390 400
SIDHKAENDF WMYDHSTNRW LSKPSLLRAR IGCKLVYCCG KMYAIGGRVY
410 420 430 440 450
EGDGRNSLKS VECYDSRENC WTTVCAMPVA MEFHNAVEYK EKIYVLQGEF
460 470 480 490 500
FLFYEPQKDY WGFLTPMTVP RIQGLAAVYK DSIYYIAGTC GNHQRMFTVE
510 520 530 540 550
AYDIELNKWT RKKDFPCDQS INPYLKLVLF QNKLHLFVRA TQVTVEEHVF
560 570 580 590 600
RTSRKNSLYQ YDDIADQWMK VYETPDRLWD LGRHFECAVA KLYPQCLQKV

L
Length:601
Mass (Da):68,823
Last modified:February 20, 2007 - v2
Checksum:iE5DC921FD9C10BBA
GO
Isoform 2 (identifier: Q8NFY9-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     6-447: Missing.

Note: No experimental confirmation available.

Show »
Length:159
Mass (Da):18,827
Checksum:i951CFB969FFDE36E
GO

Sequence cautioni

The sequence AAI17488.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence AAM43839.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti198 – 1981S → C in a breast cancer sample; somatic mutation. 1 Publication
VAR_036082
Natural varianti405 – 4051R → K in a breast cancer sample; somatic mutation. 1 Publication
VAR_036083
Natural varianti420 – 4201C → R.
Corresponds to variant rs13096789 [ dbSNP | Ensembl ].
VAR_030694

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei6 – 447442Missing in isoform 2. 1 PublicationVSP_056107Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK096640 mRNA. No translation available.
AK300397 mRNA. Translation: BAG62128.1.
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.
CCDSiCCDS2906.2. [Q8NFY9-1]
RefSeqiNP_115894.2. NM_032505.2. [Q8NFY9-1]
UniGeneiHs.116665.

Genome annotation databases

EnsembliENST00000417314; ENSP00000401878; ENSG00000163376. [Q8NFY9-1]
ENST00000460576; ENSP00000419738; ENSG00000163376. [Q8NFY9-2]
GeneIDi84541.
KEGGihsa:84541.
UCSCiuc003dmy.3. human. [Q8NFY9-1]

Polymorphism databases

DMDMi126215728.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK096640 mRNA. No translation available.
AK300397 mRNA. Translation: BAG62128.1 .
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 .
CCDSi CCDS2906.2. [Q8NFY9-1 ]
RefSeqi NP_115894.2. NM_032505.2. [Q8NFY9-1 ]
UniGenei Hs.116665.

3D structure databases

ProteinModelPortali Q8NFY9.
SMRi Q8NFY9. Positions 29-267, 337-509.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 124128. 2 interactions.
STRINGi 9606.ENSP00000295568.

PTM databases

PhosphoSitei Q8NFY9.

Polymorphism databases

DMDMi 126215728.

Proteomic databases

MaxQBi Q8NFY9.
PaxDbi Q8NFY9.
PRIDEi Q8NFY9.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000417314 ; ENSP00000401878 ; ENSG00000163376 . [Q8NFY9-1 ]
ENST00000460576 ; ENSP00000419738 ; ENSG00000163376 . [Q8NFY9-2 ]
GeneIDi 84541.
KEGGi hsa:84541.
UCSCi uc003dmy.3. human. [Q8NFY9-1 ]

Organism-specific databases

CTDi 84541.
GeneCardsi GC03P067132.
HGNCi HGNC:30691. KBTBD8.
HPAi HPA041285.
neXtProti NX_Q8NFY9.
PharmGKBi PA142671641.
HUGEi Search...
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG328379.
GeneTreei ENSGT00770000120450.
HOGENOMi HOG000113200.
HOVERGENi HBG100857.
InParanoidi Q8NFY9.
KOi K10475.
OMAi IFAKCIR.
OrthoDBi EOG75TMBB.
PhylomeDBi Q8NFY9.
TreeFami TF332672.

Miscellaneous databases

ChiTaRSi KBTBD8. human.
GenomeRNAii 84541.
NextBioi 35475032.
PROi Q8NFY9.

Gene expression databases

Bgeei Q8NFY9.
CleanExi HS_KBTBD8.
ExpressionAtlasi Q8NFY9. baseline and differential.
Genevestigatori Q8NFY9.

Family and domain databases

Gene3Di 2.120.10.80. 1 hit.
3.30.710.10. 1 hit.
InterProi IPR011705. 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 ]
PANTHERi PTHR24412:SF24. PTHR24412:SF24. 1 hit.
Pfami PF07707. BACK. 1 hit.
PF00651. BTB. 1 hit.
PF01344. Kelch_1. 3 hits.
[Graphical view ]
PIRSFi PIRSF037037. Kelch-like_protein_gigaxonin. 1 hit.
SMARTi SM00875. BACK. 1 hit.
SM00225. BTB. 1 hit.
SM00612. Kelch. 3 hits.
[Graphical view ]
SUPFAMi SSF54695. SSF54695. 1 hit.
PROSITEi PS50097. BTB. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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.
    , 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] (ISOFORMS 1 AND 2).
    Tissue: Fetal brain and Placenta.
  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.
    , 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 (ISOFORM 1).
    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 (ISOFORM 1).
    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 (ISOFORM 1).
    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. Cited for: VARIANTS [LARGE SCALE ANALYSIS] CYS-198 AND LYS-405.

Entry informationi

Entry nameiKBTB8_HUMAN
AccessioniPrimary (citable) accession number: Q8NFY9
Secondary accession number(s): B4DTW6, Q96JI5
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 20, 2007
Last sequence update: February 20, 2007
Last modified: November 26, 2014
This is version 87 of the entry and version 2 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. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3