Q9NVX7 (KBTB4_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Kelch repeat and BTB domain-containing protein 4

Alternative name(s):
BTB and kelch domain-containing protein 4

Gene names

Name:	KBTBD4
Synonyms:	BKLHD4

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	518 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Sequence similarities

Contains 1 BACK (BTB/Kelch associated) domain. Contains 1 BTB (POZ) domain. Contains 5 Kelch repeats.

Ontologies

Keywords
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Kelch repeat Repeat
Technical term	3D-structure Complete proteome Reference proteome
Gene Ontology (GO)
None. [Check GOA]

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q9NVX7-1)

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.

Isoform 2 (identifier: Q9NVX7-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MKGGNADSWQREKLASM

Sequence annotation (Features)

Feature key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Chain

1 – 518

518

Kelch repeat and BTB domain-containing protein 4

PRO_0000119080

Regions

Domain

45 – 112

68

BTB

Domain

147 – 239

93

BACK

Repeat

239 – 285

47

Kelch 1

Repeat

286 – 328

43

Kelch 2

Repeat

331 – 378

48

Kelch 3

Repeat

380 – 430

51

Kelch 4

Repeat

432 – 481

50

Kelch 5

Natural variations

Alternative sequence

1

1

M → MKGGNADSWQREKLASM in isoform 2.

VSP_042068

Natural variant

330

1

D → N.
Corresponds to variant rs11039302 [ dbSNP | Ensembl ].

VAR_028046

Experimental info

Sequence conflict

195

1

I → T in BAA91616. Ref.1

Sequence conflict

254

1

A → G in BAA91616. Ref.1

Sequence conflict

443

1

C → R in BAA91616. Ref.1

Sequence conflict

478

1

V → A in CAG33551. Ref.2

Sequence conflict

500

1

V → I in BAA91616. Ref.1

Sequence conflict

500

1

V → I in BAA91880. Ref.1

Secondary structure

1

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

518

Helix Strand Turn

Details...

Turn

144 – 146

3

Helix

147 – 156

10

Helix

160 – 172

13

Helix

175 – 178

4

Helix

181 – 185

5

Helix

188 – 196

9

Helix

205 – 214

10

Helix

217 – 230

14

Beta strand

233 – 236

4

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified October 17, 2006. Version 3. Checksum: 4522BC807A22D70D	FASTA	518	58,144
	10 20 30 40 50 60 MESPEEPGAS MDENYFVNYT FKDRSHSGRV AQGIMKLCLE EELFADVTIS VEGREFQLHR 70 80 90 100 110 120 LVLSAQSCFF RSMFTSNLKE AHNRVIVLQD VSESVFQLLV DYIYHGTVKL RAEELQEIYE 130 140 150 160 170 180 VSDMYQLTSL FEECSRFLAR TVQVGNCLQV MWLADRHSDP ELYTAAKHCA KTHLAQLQNT 190 200 210 220 230 240 EEFLHLPHRL LTDIISDGVP CSQNPTEAIE AWINFNKEER EAFAESLRTS LKEIGENVHI 250 260 270 280 290 300 YLIGKESSRT HSLAVSLHCA EDDSISVSGQ NSLCHQITAA CKHGGDLYVV GGSIPRRMWK 310 320 330 340 350 360 CNNATVDWEW CAPLPRDRLQ HTLVSVPGKD AIYSLGGKTL QDTLSNAVIY YRVGDNVWTE 370 380 390 400 410 420 TTQLEVAVSG AAGANLNGII YLLGGEENDL DFFTKPSRLI QCFDTETDKC HVKPYVLPFA 430 440 450 460 470 480 GRMHAAVHKD LVFIVAEGDS LVCYNPLLDS FTRLCLPEAW SSAPSLWKIA SCNGSIYVFR 490 500 510 DRYKKGDANT YKLDPATSAV TVTRGIKVLL TNLQFVLA
	Isoform 2 [UniParc]. Checksum: 4082E10475B57D50	FASTA	534	59,904
	10 20 30 40 50 60 MKGGNADSWQ REKLASMESP EEPGASMDEN YFVNYTFKDR SHSGRVAQGI MKLCLEEELF 70 80 90 100 110 120 ADVTISVEGR EFQLHRLVLS AQSCFFRSMF TSNLKEAHNR VIVLQDVSES VFQLLVDYIY 130 140 150 160 170 180 HGTVKLRAEE LQEIYEVSDM YQLTSLFEEC SRFLARTVQV GNCLQVMWLA DRHSDPELYT 190 200 210 220 230 240 AAKHCAKTHL AQLQNTEEFL HLPHRLLTDI ISDGVPCSQN PTEAIEAWIN FNKEEREAFA 250 260 270 280 290 300 ESLRTSLKEI GENVHIYLIG KESSRTHSLA VSLHCAEDDS ISVSGQNSLC HQITAACKHG 310 320 330 340 350 360 GDLYVVGGSI PRRMWKCNNA TVDWEWCAPL PRDRLQHTLV SVPGKDAIYS LGGKTLQDTL 370 380 390 400 410 420 SNAVIYYRVG DNVWTETTQL EVAVSGAAGA NLNGIIYLLG GEENDLDFFT KPSRLIQCFD 430 440 450 460 470 480 TETDKCHVKP YVLPFAGRMH AAVHKDLVFI VAEGDSLVCY NPLLDSFTRL CLPEAWSSAP 490 500 510 520 530 SLWKIASCNG SIYVFRDRYK KGDANTYKLD PATSAVTVTR GIKVLLTNLQ FVLA

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: 14702039] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
[2]	"Cloning of human full open reading frames in Gateway(TM) system entry vector (pDONR201)." Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B. Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
[3]	"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] (ISOFORM 1). Tissue: Lymph node.
[4]	"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].
[5]	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 (SEP-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[6]	"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] (ISOFORM 1). Tissue: Brain.
[7]	"Solution structure of the back domain of KELCH repeat and BTB domain-containing protein 4." RIKEN structural genomics initiative (RSGI) Submitted (OCT-2007) to the PDB data bank Cited for: STRUCTURE BY NMR OF 142-239.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ

AK001312 mRNA. Translation: BAA91616.1.
AK001749 mRNA. Translation: BAA91880.1.
CR457270 mRNA. Translation: CAG33551.1.
AL713735 mRNA. Translation: CAD28521.1.
AC104942 Genomic DNA. No translation available.
CH471064 Genomic DNA. Translation: EAW67898.1.
CH471064 Genomic DNA. Translation: EAW67899.1.
CH471064 Genomic DNA. Translation: EAW67900.1.
CH471064 Genomic DNA. Translation: EAW67901.1.
CH471064 Genomic DNA. Translation: EAW67902.1.
BC002736 mRNA. Translation: AAH02736.1.

IPI

IPI00334927.
IPI00983979.

RefSeq

NP_057590.3. NM_016506.5.
NP_060565.4. NM_018095.4.

UniGene

Hs.656205.
Hs.718483.

3D structure databases

PDBe
RCSB PDB
PDBj

Entry	Method	Resolution (Å)	Chain	Positions	PDBsum
2EQX	NMR	-	A	142-239	[»]

ProteinModelPortal

Q9NVX7.

SMR

Q9NVX7. Positions 18-239, 264-473.

ModBase

Search...

Protein-protein interaction databases

IntAct

Q9NVX7. 1 interaction.

STRING

Q9NVX7.

Polymorphism databases

DMDM

116242601.

Proteomic databases

PRIDE

Q9NVX7.

Protocols and materials databases

StructuralBiologyKnowledgebase

Search...

Genome annotation databases

Ensembl

ENST00000357777; ENSP00000350422; ENSG00000123444.
ENST00000395288; ENSP00000378703; ENSG00000123444.
ENST00000430070; ENSP00000415106; ENSG00000123444.
ENST00000533290; ENSP00000436713; ENSG00000123444.

GeneID

55709.

KEGG

hsa:55709.

UCSC

uc001nfw.1. human.

Organism-specific databases

CTD

55709.

GeneCards

GC11M047597.

H-InvDB

HIX0009619.

HGNC

HGNC:23761. KBTBD4.

HPA

HPA037792.

neXtProt

NX_Q9NVX7.

PharmGKB

PA134883813.

GenAtlas

Search...

Phylogenomic databases

GeneTree

ENSGT00600000084437.

HOVERGEN

HBG052213.

InParanoid

Q9NVX7.

OrthoDB

EOG4N04DK.

PhylomeDB

Q9NVX7.

Gene expression databases

ArrayExpress

Q9NVX7.

Bgee

Q9NVX7.

CleanEx

HS_KBTBD4.

Genevestigator

Q9NVX7.

GermOnline

ENSG00000123444. Homo sapiens.

Family and domain databases

InterPro

IPR011705. BACK.
IPR000210. BTB/POZ-like.
IPR011333. BTB/POZ_fold.
IPR013069. BTB_POZ.
IPR015915. Kelch-typ_b-propeller.
[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

K10472.

Pfam

PF07707. BACK. 1 hit.
PF00651. BTB. 1 hit.
[Graphical view]

SMART

SM00875. BACK. 1 hit.
SM00225. BTB. 1 hit.
[Graphical view]

SUPFAM

SSF54695. BTB/POZ_fold. 1 hit.

PROSITE

PS50097. BTB. 1 hit.
[Graphical view]

ProtoNet

Search...

Other

NextBio

60571.

Entry information

Entry name

KBTB4_HUMAN

Accession

Primary (citable) accession number: Q9NVX7
Secondary accession number(s): D3DQS1 , D3DQS2, Q6IA85, Q9BUC3, Q9NV76

Entry history

Integrated into UniProtKB/Swiss-Prot:	January 16, 2004
Last sequence update:	October 17, 2006
Last modified:	January 25, 2012
This is version 89 of the entry and version 3 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.