Q8NAB2 (KBTB3_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Kelch repeat and BTB domain-containing protein 3

Alternative name(s):
BTB and kelch domain-containing protein 3

Gene names

Name:	KBTBD3
Synonyms:	BKLHD3

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	608 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 AAI17467.1 differs from that shown. Reason: Erroneous initiation. The sequence CAE45804.1 differs from that shown. Reason: Erroneous initiation. The sequence EAW67073.1 differs from that shown. Reason: Erroneous initiation.

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 – 608	608	Kelch repeat and BTB domain-containing protein 3		PRO_0000119078
Regions
	Domain	48 – 115	68	BTB
	Domain	150 – 252	103	BACK
	Repeat	291 – 337	47	Kelch 1
	Repeat	339 – 399	61	Kelch 2
	Repeat	400 – 450	51	Kelch 3
	Repeat	452 – 502	51	Kelch 4
	Repeat	548 – 595	48	Kelch 5
Natural variations
	Natural variant	189	1	M → V. Corresponds to variant rs35762821 [ dbSNP | Ensembl ].		VAR_056124
Experimental info
	Sequence conflict	23	1	N → S in BAC04012. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	Q8NAB2 [UniParc]. Last modified September 19, 2003. Version 2. Checksum: 90EC46DAB57C39A6	FASTA	608	69,395
	10 20 30 40 50 60 MDNSYAFNQR STCNGIPSEK KNNFLVSEDH GQKILSVLQN FREQNVFYDF KIIMKDEIIP 70 80 90 100 110 120 CHRCVLAACS DFFRAMFEVN MKERDDGSVT ITNLSSKAVK AFLDYAYTGK TKITDDNVEM 130 140 150 160 170 180 FFQLSSFLQV SFLSKACSDF LIKSINLVNC LQLLSISDSY GSTSLFDHAL HFVQHHFSLL 190 200 210 220 230 240 FKSSDFLEMN FGVLQKCLES DELNVPEEEM VLKVVLSWTK HNLESRQKYL PHLIEKVRLH 250 260 270 280 290 300 QLSEETLQDC LFNEESLLKS TNCFDIIMDA IKCVQGSGGL FPDARPSTTE KYIFIHKTEE 310 320 330 340 350 360 NGENQYTFCY NIKSDSWKIL PQSHLIDLPG SSLSSYGEKI FLTGGCKGKC CRTVRLHIAE 370 380 390 400 410 420 SYHDATDQTW CYCPVKNDFF LVSTMKTPRT MHTSVMALDR LFVIGGKTRG SRDIKSLLDV 430 440 450 460 470 480 ESYNPLSKEW ISVSPLPRGI YYPEASTCQN VIYVLGSEVE ITDAFNPSLD CFFKYNATTD 490 500 510 520 530 540 QWSELVAEFG QFFHATLIKA VPVNCTLYIC DLSTYKVYSF CPDTCVWKGE GSFECAGFNA 550 560 570 580 590 600 GAIGIEDKIY ILGGDYAPDE ITDEVQVYHS NRSEWEEVSP MPRALTEFYC QVIQFNKYRD PWFSNLCA

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: Brain and Spleen.
[2]	"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]. Tissue: Uterus.
[3]	"Human chromosome 11 DNA sequence and analysis including novel gene identification." Taylor T.D., Noguchi H., Totoki Y., Toyoda A., Kuroki Y., Dewar K., Lloyd C., Itoh T., Takeda T., Kim D.-W., She X., Barlow K.F., Bloom T., Bruford E., Chang J.L., Cuomo C.A., Eichler E., FitzGerald M.G. , Jaffe D.B., LaButti K., Nicol R., Park H.-S., Seaman C., Sougnez C., Yang X., Zimmer A.R., Zody M.C., Birren B.W., Nusbaum C., Fujiyama A., Hattori M., Rogers J., Lander E.S., Sakaki Y. Nature 440:497-500(2006) [PubMed: 16554811] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]	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].
[5]	"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]. Tissue: Brain.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AK092993 mRNA. Translation: BAC04012.1. BX640672 mRNA. Translation: CAE45804.1. Different initiation. AP001001 Genomic DNA. No translation available. CH471065 Genomic DNA. Translation: EAW67073.1. Different initiation. BC117466 mRNA. Translation: AAI17467.1. Different initiation.
IPI	IPI00167953.
RefSeq	NP_689646.2. NM_152433.3. NP_940841.1. NM_198439.2.
UniGene	Hs.101949.
3D structure databases
ProteinModelPortal	Q8NAB2.
SMR	Q8NAB2. Positions 21-276, 337-594.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q8NAB2. 1 interaction.
Polymorphism databases
DMDM	34921839.
Proteomic databases
PRIDE	Q8NAB2.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000332166; ENSP00000328409; ENSG00000182359. ENST00000393121; ENSP00000376829; ENSG00000182359. ENST00000402992; ENSP00000384921; ENSG00000182359.
GeneID	143879.
KEGG	hsa:143879.
UCSC	uc001pja.1. human.
Organism-specific databases
CTD	143879.
GeneCards	GC11M105921.
H-InvDB	HIX0010077.
HGNC	HGNC:22934. KBTBD3.
neXtProt	NX_Q8NAB2.
GenAtlas	Search...
Phylogenomic databases
GeneTree	ENSGT00600000084252.
HOVERGEN	HBG052212.
InParanoid	Q8NAB2.
OrthoDB	EOG42BX83.
Gene expression databases
ArrayExpress	Q8NAB2.
Bgee	Q8NAB2.
CleanEx	HS_KBTBD3.
Genevestigator	Q8NAB2.
GermOnline	ENSG00000182359. 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	K10471.
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. 3 hits. [Graphical view]
SUPFAM	SSF54695. BTB/POZ_fold. 1 hit.
PROSITE	PS50097. BTB. 1 hit. [Graphical view]
ProtoNet	Search...

Entry information

Entry name

KBTB3_HUMAN

Accession

Primary (citable) accession number: Q8NAB2
Secondary accession number(s): Q6N066, Q86X38, Q96NK5

Entry history

Integrated into UniProtKB/Swiss-Prot:	September 19, 2003
Last sequence update:	September 19, 2003
Last modified:	January 25, 2012
This is version 81 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.