Q8NFY9 (KBTB8_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended 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

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	601 AA.
Sequence status	Complete.
Protein existence	Evidence at transcript level

General annotation (Comments)

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
Coding sequence diversity	Polymorphism
Domain	Kelch repeat Repeat
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
None. [Check GOA]

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 601	601	Kelch repeat and BTB domain-containing protein 8		PRO_0000278220
Regions
	Domain	49 – 117	69	BTB
	Domain	152 – 254	103	BACK
	Repeat	336 – 390	55	Kelch 1
	Repeat	391 – 441	51	Kelch 2
	Repeat	443 – 481	39	Kelch 3
	Repeat	483 – 532	50	Kelch 4
	Repeat	542 – 588	47	Kelch 5
Natural variations
	Natural variant	198	1	S → C in a breast cancer sample; somatic mutation. Ref.7		VAR_036082
	Natural variant	405	1	R → K in a breast cancer sample; somatic mutation. Ref.7		VAR_036083
	Natural variant	420	1	C → R. Corresponds to variant rs13096789 [ dbSNP | Ensembl ].		VAR_030694

Sequences

	Sequence		Length	Mass (Da)
	Q8NFY9 [UniParc]. Last modified February 20, 2007. Version 2. Checksum: E5DC921FD9C10BBA	FASTA	601	68,823
	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

References

	« Hide 'large scale' referencesShow '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. , 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. , 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 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. , 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.
IPI	IPI00168944.
RefSeq	NP_115894.2. NM_032505.2.
UniGene	Hs.116665.
3D structure databases
HSSP	HSSP built from PDB template 1R29 based on UniProtKB P41182.
ProteinModelPortal	Q8NFY9.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000295568.
PTM databases
PhosphoSite	Q8NFY9.
Polymorphism databases
DMDM	126215728.
Proteomic databases
PaxDb	Q8NFY9.
PRIDE	Q8NFY9.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000295568; ENSP00000295568; ENSG00000163376. ENST00000417314; ENSP00000401878; ENSG00000163376.
GeneID	84541.
KEGG	hsa:84541.
UCSC	uc003dmy.3. human.
Organism-specific databases
CTD	84541.
GeneCards	GC03P067132.
HGNC	HGNC:30691. KBTBD8.
HPA	HPA041285.
neXtProt	NX_Q8NFY9.
PharmGKB	PA142671641.
HUGE	Search...
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG328379.
HOGENOM	HOG000113200.
HOVERGEN	HBG100857.
InParanoid	Q8NFY9.
KO	K10475.
OMA	TVPCLDI.
OrthoDB	EOG4TXBRH.
Gene expression databases
ArrayExpress	Q8NFY9.
Bgee	Q8NFY9.
CleanEx	HS_KBTBD8.
Genevestigator	Q8NFY9.
Family and domain databases
Gene3D	2.120.10.80. 1 hit. 3.30.710.10. 1 hit.
InterPro	IPR011705. BACK. IPR000210. BTB/POZ-like. IPR011333. BTB/POZ_fold. IPR013069. BTB_POZ. IPR017096. Kelch-like_gigaxonin. IPR015915. Kelch-typ_b-propeller. IPR006652. Kelch_1. [Graphical view]
Pfam	PF07707. BACK. 1 hit. PF00651. BTB. 1 hit. PF01344. Kelch_1. 3 hits. [Graphical view]
PIRSF	PIRSF037037. Kelch-like_protein_gigaxonin. 1 hit.
SMART	SM00875. BACK. 1 hit. SM00225. BTB. 1 hit. SM00612. Kelch. 3 hits. [Graphical view]
SUPFAM	SSF54695. BTB/POZ_fold. 1 hit.
PROSITE	PS50097. BTB. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	84541.
NextBio	74398.

Entry information

Entry name

KBTB8_HUMAN

Accession

Primary (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:	May 1, 2013
This is version 73 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.