Q96KE9 (BTBD6_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
BTB/POZ domain-containing protein 6

Alternative name(s):
Lens BTB domain protein

Gene names

Name:	BTBD6
Synonyms:	BDPL

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

General annotation (Comments)

Function	Adapter protein for the CUL3 E3 ubiquitin-protein ligase complex. Involved in late neuronal development and muscle formation By similarity.
Subcellular location	Cytoplasm › P-body By similarity. Note: Cytoplasmic bodies By similarity.
Tissue specificity	Expressed in lens. Ref.3
Sequence similarities	Contains 1 BTB (POZ) domain.
Sequence caution	The sequence AAK39520.1 differs from that shown. Reason: Erroneous initiation.

Ontologies

Keywords
Cellular component	Cytoplasm
Coding sequence diversity	Alternative splicing
Technical term	3D-structure Complete proteome Reference proteome
Gene Ontology (GO)
Cellular component	cytoplasmic mRNA processing body Inferred from electronic annotation. Source: UniProtKB-SubCell
Complete GO annotation...

Alternative products

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

Isoform 1 (identifier: Q96KE9-1)

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: Q96KE9-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-75: Missing.

Sequence annotation (Features)

Feature key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Chain

1 – 485

485

BTB/POZ domain-containing protein 6

PRO_0000186213

Regions

Domain

83 – 153

71

BTB

Compositional bias

7 – 14

8

Poly-Ala

Compositional bias

31 – 50

20

Pro-rich

Natural variations

Alternative sequence

1 – 75

75

Missing in isoform 2.

VSP_037792

Experimental info

Sequence conflict

11

1

A → R in AAK39520. Ref.3

Sequence conflict

273

1

R → G in AAH42525. Ref.2

Secondary structure

1

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

485

Helix Strand Turn

Details...

Beta strand

76 – 101

26

Helix

102 – 107

6

Helix

110 – 116

7

Beta strand

125 – 128

4

Beta strand

130 – 132

3

Helix

134 – 146

13

Beta strand

147 – 155

9

Helix

156 – 165

10

Helix

169 – 181

13

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified July 28, 2009. Version 3. Checksum: B6D984D25DDD843B	FASTA	485	53,411
	10 20 30 40 50 60 MAAELYAPAS AAAADLANSN AGAAVGRKAG PRSPPSAPAP APPPPAPAPP TLGNNHQESP 70 80 90 100 110 120 GWRCCRPTLR ERNALMFNNE LMADVHFVVG PPGATRTVPA HKYVLAVGSS VFYAMFYGDL 130 140 150 160 170 180 AEVKSEIHIP DVEPAAFLIL LKYMYSDEID LEADTVLATL YAAKKYIVPA LAKACVNFLE 190 200 210 220 230 240 TSLEAKNACV LLSQSRLFEE PELTQRCWEV IDAQAEMALR SEGFCEIDRQ TLEIIVTREA 250 260 270 280 290 300 LNTKEAVVFE AVLNWAEAEC KRQGLPITPR NKRHVLGRAL YLVRIPTMTL EEFANGAAQS 310 320 330 340 350 360 DILTLEETHS IFLWYTATNK PRLDFPLTKR KGLAPQRCHR FQSSAYRSNQ WRYRGRCDSI 370 380 390 400 410 420 QFAVDRRVFI AGLGLYGSSS GKAEYSVKIE LKRLGVVLAQ NLTKFMSDGS SNTFPVWFEH 430 440 450 460 470 480 PVQVEQDTFY TASAVLDGSE LSYFGQEGMT EVQCGKVAFQ FQCSSDSTNG TGVQGGQIPE LIFYA
	Isoform 2 [UniParc]. Checksum: 2EC0F14F0AE12769	FASTA	410	45,925
	10 20 30 40 50 60 MFNNELMADV HFVVGPPGAT RTVPAHKYVL AVGSSVFYAM FYGDLAEVKS EIHIPDVEPA 70 80 90 100 110 120 AFLILLKYMY SDEIDLEADT VLATLYAAKK YIVPALAKAC VNFLETSLEA KNACVLLSQS 130 140 150 160 170 180 RLFEEPELTQ RCWEVIDAQA EMALRSEGFC EIDRQTLEII VTREALNTKE AVVFEAVLNW 190 200 210 220 230 240 AEAECKRQGL PITPRNKRHV LGRALYLVRI PTMTLEEFAN GAAQSDILTL EETHSIFLWY 250 260 270 280 290 300 TATNKPRLDF PLTKRKGLAP QRCHRFQSSA YRSNQWRYRG RCDSIQFAVD RRVFIAGLGL 310 320 330 340 350 360 YGSSSGKAEY SVKIELKRLG VVLAQNLTKF MSDGSSNTFP VWFEHPVQVE QDTFYTASAV 370 380 390 400 410 LDGSELSYFG QEGMTEVQCG KVAFQFQCSS DSTNGTGVQG GQIPELIFYA

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"The DNA sequence and analysis of human chromosome 14." Heilig R., Eckenberg R., Petit J.-L., Fonknechten N., Da Silva C., Cattolico L., Levy M., Barbe V., De Berardinis V., Ureta-Vidal A., Pelletier E., Vico V., Anthouard V., Rowen L., Madan A., Qin S., Sun H., Du H. , Pepin K., Artiguenave F., Robert C., Cruaud C., Bruels T., Jaillon O., Friedlander L., Samson G., Brottier P., Cure S., Segurens B., Aniere F., Samain S., Crespeau H., Abbasi N., Aiach N., Boscus D., Dickhoff R., Dors M., Dubois I., Friedman C., Gouyvenoux M., James R., Madan A., Mairey-Estrada B., Mangenot S., Martins N., Menard M., Oztas S., Ratcliffe A., Shaffer T., Trask B., Vacherie B., Bellemere C., Belser C., Besnard-Gonnet M., Bartol-Mavel D., Boutard M., Briez-Silla S., Combette S., Dufosse-Laurent V., Ferron C., Lechaplais C., Louesse C., Muselet D., Magdelenat G., Pateau E., Petit E., Sirvain-Trukniewicz P., Trybou A., Vega-Czarny N., Bataille E., Bluet E., Bordelais I., Dubois M., Dumont C., Guerin T., Haffray S., Hammadi R., Muanga J., Pellouin V., Robert D., Wunderle E., Gauguet G., Roy A., Sainte-Marthe L., Verdier J., Verdier-Discala C., Hillier L.W., Fulton L., McPherson J., Matsuda F., Wilson R., Scarpelli C., Gyapay G., Wincker P., Saurin W., Quetier F., Waterston R., Hood L., Weissenbach J. Nature 421:601-607(2003) [PubMed: 12508121] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[2]	"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 2). Tissue: Testis and Uterus.
[3]	"Expressed sequence tag analysis of adult human lens for the NEIBank project: over 2000 non-redundant transcripts, novel genes and splice variants." Wistow G., Bernstein S.L., Wyatt M.K., Behal A., Touchman J.W., Bouffard G., Smith D., Peterson K. Mol. Vis. 8:171-184(2002) [PubMed: 12107413] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 6-485 (ISOFORM 1), TISSUE SPECIFICITY. Tissue: Lens.
[4]	"Crystal structure of BTB domain from BTBD6." Structural genomics consortium (SGC) Submitted (FEB-2008) to the PDB data bank Cited for: X-RAY CRYSTALLOGRAPHY (1.9 ANGSTROMS) OF 76-183.
+	Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ

AL512355 Genomic DNA. No translation available.
BC006414 mRNA. Translation: AAH06414.1.
BC042525 mRNA. Translation: AAH42525.1.
AF353674 mRNA. Translation: AAK39520.1. Different initiation.

IPI

IPI00064579.
IPI00943024.

RefSeq

NP_150374.2. NM_033271.2.

UniGene

Hs.7367.

3D structure databases

PDBe
RCSB PDB
PDBj

Entry	Method	Resolution (Å)	Chain	Positions	PDBsum
2VKP	X-ray	1.90	A/B	76-183	[»]

ProteinModelPortal

Q96KE9.

SMR

Q96KE9. Positions 66-215, 334-485.

ModBase

Search...

Protein-protein interaction databases

IntAct

Q96KE9. 1 interaction.

Polymorphism databases

DMDM

254763426.

Proteomic databases

PRIDE

Q96KE9.

Protocols and materials databases

StructuralBiologyKnowledgebase

Search...

Genome annotation databases

Ensembl

ENST00000392554; ENSP00000376337; ENSG00000184887.

GeneID

90135.

KEGG

hsa:90135.

UCSC

uc001yqq.1. human.

Organism-specific databases

CTD

90135.

GeneCards

GC14P105715.

H-InvDB

HIX0026634.

HGNC

HGNC:19897. BTBD6.

HPA

HPA031355.

neXtProt

NX_Q96KE9.

PharmGKB

PA128394741.

GenAtlas

Search...

Phylogenomic databases

eggNOG

prNOG08439.

GeneTree

ENSGT00550000074511.

HOGENOM

HBG385020.

HOVERGEN

HBG050743.

InParanoid

Q96KE9.

OMA

PVTPRNK.

OrthoDB

EOG4CRM01.

PhylomeDB

Q96KE9.

Gene expression databases

ArrayExpress

Q96KE9.

Bgee

Q96KE9.

CleanEx

HS_BTBD6.

Genevestigator

Q96KE9.

GermOnline

ENSG00000184887. Homo sapiens.

Family and domain databases

InterPro

IPR011705. BACK.
IPR000210. BTB/POZ-like.
IPR011333. BTB/POZ_fold.
IPR013069. BTB_POZ.
IPR012983. PHR.
[Graphical view]

Gene3D

G3DSA:3.30.710.10. BTB/POZ_fold. 1 hit.

KO

K10478.

Pfam

PF07707. BACK. 1 hit.
PF00651. BTB. 1 hit.
PF08005. PHR. 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

76547.

Entry information

Entry name

BTBD6_HUMAN

Accession

Primary (citable) accession number: Q96KE9
Secondary accession number(s): Q8IVQ7, Q9BR94

Entry history

Integrated into UniProtKB/Swiss-Prot:	November 28, 2003
Last sequence update:	July 28, 2009
Last modified:	January 25, 2012
This is version 80 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.