Q8IY47 (KBTB2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Kelch repeat and BTB domain-containing protein 2

Alternative name(s):
BTB and kelch domain-containing protein 1

Gene names

Name:	KBTBD2
Synonyms:	BKLHD1, KIAA1489
ORF Names:	CGI-73

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	623 AA.
Sequence status	Complete.
Protein existence	Evidence at transcript level

General annotation (Comments)

Sequence similarities	Contains 1 BTB (POZ) domain. Contains 5 Kelch repeats.
Sequence caution	The sequence AAD34068.1 differs from that shown. Reason: Frameshift at position 328.

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 – 623	623	Kelch repeat and BTB domain-containing protein 2		PRO_0000119077
Regions
	Domain	31 – 98	68	BTB
	Repeat	317 – 380	64	Kelch 1
	Repeat	381 – 429	49	Kelch 2
	Repeat	431 – 469	39	Kelch 3
	Repeat	470 – 529	60	Kelch 4
	Repeat	535 – 581	47	Kelch 5
Natural variations
	Natural variant	166	1	Q → K. Ref.3 Corresponds to variant rs17853781 [ dbSNP | Ensembl ].		VAR_037766
	Natural variant	189	1	E → G. Ref.3 Corresponds to variant rs17854425 [ dbSNP | Ensembl ].		VAR_037767
	Natural variant	193	1	T → P. Corresponds to variant rs35477666 [ dbSNP | Ensembl ].		VAR_037768
	Natural variant	254	1	P → R. Ref.3 Corresponds to variant rs17857323 [ dbSNP | Ensembl ].		VAR_037769
	Natural variant	301	1	P → R. Ref.3 Corresponds to variant rs17857324 [ dbSNP | Ensembl ].		VAR_037770
	Natural variant	534	1	L → I. Ref.3 Corresponds to variant rs17854424 [ dbSNP | Ensembl ].		VAR_037771
	Natural variant	594	1	S → Y. Ref.3 Corresponds to variant rs17853783 [ dbSNP | Ensembl ].		VAR_037772
Experimental info
	Sequence conflict	167	1	D → V in AAD34068. Ref.4
	Sequence conflict	181	1	L → F in AAD34068. Ref.4
	Sequence conflict	276	1	S → A in CAB55994. Ref.6
	Sequence conflict	543	1	L → S in CAB55994. Ref.6

Sequences

	Sequence		Length	Mass (Da)
	Q8IY47 [UniParc]. Last modified July 25, 2003. Version 2. Checksum: A999ED0429B92772	FASTA	623	71,331
	10 20 30 40 50 60 MSTQDERQIN TEYAVSLLEQ LKLFYEQQLF TDIVLIVEGT EFPCHKMVLA TCSSYFRAMF 70 80 90 100 110 120 MSGLSESKQT HVHLRNVDAA TLQIIITYAY TGNLAMNDST VEQLYETACF LQVEDVLQRC 130 140 150 160 170 180 REYLIKKINA ENCVRLLSFA DLFSCEELKQ SAKRMVEHKF TAVYHQDAFM QLSHDLLIDI 190 200 210 220 230 240 LSSDNLNVEK EETVREAAML WLEYNTESRS QYLSSVLSQI RIDALSEVTQ RAWFQGLPPN 250 260 270 280 290 300 DKSVVVQGLY KSMPKFFKPR LGMTKEEMMI FIEASSENPC SLYSSVCYSP QAEKVYKLCS 310 320 330 340 350 360 PPADLHKVGT VVTPDNDIYI AGGQVPLKNT KTNHSKTSKL QTAFRTVNCF YWFDAQQNTW 370 380 390 400 410 420 FPKTPMLFVR IKPSLVCCEG YIYAIGGDSV GGELNRRTVE RYDTEKDEWT MVSPLPCAWQ 430 440 450 460 470 480 WSAAVVVHDC IYVMTLNLMY CYFPRSDSWV EMAMRQTSRS FASAAAFGDK IFYIGGLHIA 490 500 510 520 530 540 TNSGIRLPSG TVDGSSVTVE IYDVNKNEWK MAANIPAKRY SDPCVRAVVI SNSLCVFMRE 550 560 570 580 590 600 THLNERAKYV TYQYDLELDR WSLRQHISER VLWDLGRDFR CTVGKLYPSC LEESPWKPPT 610 620 YLFSTDGTEE FELDGEMVAL PPV

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: 14702039] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Trachea.
[2]	Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]	"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: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANTS LYS-166; GLY-189; ARG-254; ARG-301; ILE-534 AND TYR-594. Tissue: Brain.
[4]	"Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics." Lai C.-H., Chou C.-Y., Ch'ang L.-Y., Liu C.-S., Lin W.-C. Genome Res. 10:703-713(2000) [PubMed: 10810093] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-376.
[5]	"Prediction of the coding sequences of unidentified human genes. XVII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro." Nagase T., Kikuno R., Ishikawa K., Hirosawa M., Ohara O. DNA Res. 7:143-150(2000) [PubMed: 10819331] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 113-623. Tissue: Brain.
[6]	"The full-ORF clone resource of the German cDNA consortium." Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I. BMC Genomics 8:399-399(2007) [PubMed: 17974005] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 276-623. Tissue: Kidney.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AK292802 mRNA. Translation: BAF85491.1. CH471073 Genomic DNA. Translation: EAW94000.1. BC037887 mRNA. Translation: AAH37887.1. BC047107 mRNA. Translation: AAH47107.1. AF151831 mRNA. Translation: AAD34068.1. Frameshift. AB040922 mRNA. Translation: BAA96013.1. AL117562 mRNA. Translation: CAB55994.1.
IPI	IPI00293363.
PIR	T17304.
RefSeq	NP_056298.2. NM_015483.2.
UniGene	Hs.372541.
3D structure databases
ProteinModelPortal	Q8IY47.
SMR	Q8IY47. Positions 5-238, 269-469.
ModBase	Search...
Protein-protein interaction databases
STRING	Q8IY47.
PTM databases
PhosphoSite	Q8IY47.
Polymorphism databases
DMDM	33301029.
Proteomic databases
PRIDE	Q8IY47.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000304056; ENSP00000302586; ENSG00000170852.
GeneID	25948.
KEGG	hsa:25948.
Organism-specific databases
CTD	25948.
GeneCards	GC07M032874.
H-InvDB	HIX0006584.
HGNC	HGNC:21751. KBTBD2.
HPA	HPA021133.
neXtProt	NX_Q8IY47.
PharmGKB	PA134892896.
HUGE	Search...
GenAtlas	Search...
Phylogenomic databases
eggNOG	prNOG12240.
HOGENOM	HBG268114.
HOVERGEN	HBG052211.
InParanoid	Q8IY47.
OMA	AYAYTGN.
OrthoDB	EOG47D9FP.
PhylomeDB	Q8IY47.
Gene expression databases
ArrayExpress	Q8IY47.
Bgee	Q8IY47.
CleanEx	HS_KBTBD2.
Genevestigator	Q8IY47.
GermOnline	ENSG00000170852. Homo sapiens.
Family and domain databases
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]
Gene3D	G3DSA:3.30.710.10. BTB/POZ_fold. 1 hit. G3DSA:2.120.10.80. Kelch-typ_b-propeller. 1 hit.
KO	K10470.
Pfam	PF07707. BACK. 1 hit. PF00651. BTB. 1 hit. PF01344. Kelch_1. 2 hits. [Graphical view]
PIRSF	PIRSF037037. Kelch-like_protein_gigaxonin. 1 hit.
SMART	SM00875. BACK. 1 hit. SM00225. BTB. 1 hit. SM00612. Kelch. 4 hits. [Graphical view]
SUPFAM	SSF54695. BTB/POZ_fold. 1 hit.
PROSITE	PS50097. BTB. 1 hit. [Graphical view]
ProtoNet	Search...
Other
NextBio	47542.

Entry information

Entry name

KBTB2_HUMAN

Accession

Primary (citable) accession number: Q8IY47
Secondary accession number(s): A8K9T7 , Q86Y62, Q9P239, Q9UFM7, Q9Y382

Entry history

Integrated into UniProtKB/Swiss-Prot:	July 25, 2003
Last sequence update:	July 25, 2003
Last modified:	December 14, 2011
This is version 78 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.