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Protein

BTB/POZ domain-containing protein 6

Gene

BTBD6

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 3 out of 5-Experimental evidence at protein leveli

Functioni

Adapter protein for the CUL3 E3 ubiquitin-protein ligase complex. Involved in late neuronal development and muscle formation (By similarity).By similarity

Names & Taxonomyi

Protein namesi
Recommended name:
BTB/POZ domain-containing protein 6
Alternative name(s):
Lens BTB domain protein
Gene namesi
Name:BTBD6
Synonyms:BDPL
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 14

Organism-specific databases

HGNCiHGNC:19897. BTBD6.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA128394741.

Polymorphism and mutation databases

BioMutaiBTBD6.
DMDMi254763426.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 485485BTB/POZ domain-containing protein 6PRO_0000186213Add
BLAST

Proteomic databases

PaxDbiQ96KE9.
PRIDEiQ96KE9.

PTM databases

iPTMnetiQ96KE9.
PhosphoSiteiQ96KE9.

Expressioni

Tissue specificityi

Expressed in lens.1 Publication

Gene expression databases

BgeeiQ96KE9.
CleanExiHS_BTBD6.
ExpressionAtlasiQ96KE9. baseline and differential.
GenevisibleiQ96KE9. HS.

Organism-specific databases

HPAiHPA031355.

Interactioni

Protein-protein interaction databases

BioGridi124668. 6 interactions.
IntActiQ96KE9. 1 interaction.
STRINGi9606.ENSP00000376337.

Structurei

Secondary structure

1
485
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Beta strandi85 – 917Combined sources
Beta strandi96 – 1005Combined sources
Helixi102 – 1087Combined sources
Helixi110 – 1167Combined sources
Beta strandi126 – 1294Combined sources
Helixi134 – 14613Combined sources
Turni153 – 1553Combined sources
Helixi156 – 16510Combined sources
Helixi169 – 18214Combined sources

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
2VKPX-ray1.90A/B76-183[»]
ProteinModelPortaliQ96KE9.
SMRiQ96KE9. Positions 76-255, 339-484.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ96KE9.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini83 – 15371BTBPROSITE-ProRule annotationAdd
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi7 – 148Poly-Ala
Compositional biasi31 – 5020Pro-richAdd
BLAST

Sequence similaritiesi

Contains 1 BTB (POZ) domain.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiKOG2075. Eukaryota.
ENOG410XQ3X. LUCA.
GeneTreeiENSGT00550000074511.
HOGENOMiHOG000293364.
HOVERGENiHBG050743.
InParanoidiQ96KE9.
KOiK10478.
OMAiKSEGFCE.
OrthoDBiEOG73BVC6.
PhylomeDBiQ96KE9.
TreeFamiTF106482.

Family and domain databases

InterProiIPR011705. BACK.
IPR000210. BTB/POZ_dom.
IPR012983. PHR.
IPR011333. SKP1/BTB/POZ.
[Graphical view]
PfamiPF07707. BACK. 1 hit.
PF00651. BTB. 1 hit.
PF08005. PHR. 1 hit.
[Graphical view]
SMARTiSM00875. BACK. 1 hit.
SM00225. BTB. 1 hit.
[Graphical view]
SUPFAMiSSF54695. SSF54695. 1 hit.
PROSITEiPS50097. BTB. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q96KE9-1) [UniParc]FASTAAdd to basket

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.

« Hide

        10         20         30         40         50
MAAELYAPAS AAAADLANSN AGAAVGRKAG PRSPPSAPAP APPPPAPAPP
60 70 80 90 100
TLGNNHQESP GWRCCRPTLR ERNALMFNNE LMADVHFVVG PPGATRTVPA
110 120 130 140 150
HKYVLAVGSS VFYAMFYGDL AEVKSEIHIP DVEPAAFLIL LKYMYSDEID
160 170 180 190 200
LEADTVLATL YAAKKYIVPA LAKACVNFLE TSLEAKNACV LLSQSRLFEE
210 220 230 240 250
PELTQRCWEV IDAQAEMALR SEGFCEIDRQ TLEIIVTREA LNTKEAVVFE
260 270 280 290 300
AVLNWAEAEC KRQGLPITPR NKRHVLGRAL YLVRIPTMTL EEFANGAAQS
310 320 330 340 350
DILTLEETHS IFLWYTATNK PRLDFPLTKR KGLAPQRCHR FQSSAYRSNQ
360 370 380 390 400
WRYRGRCDSI QFAVDRRVFI AGLGLYGSSS GKAEYSVKIE LKRLGVVLAQ
410 420 430 440 450
NLTKFMSDGS SNTFPVWFEH PVQVEQDTFY TASAVLDGSE LSYFGQEGMT
460 470 480
EVQCGKVAFQ FQCSSDSTNG TGVQGGQIPE LIFYA
Length:485
Mass (Da):53,411
Last modified:July 28, 2009 - v3
Checksum:iB6D984D25DDD843B
GO
Isoform 2 (identifier: Q96KE9-2) [UniParc]FASTAAdd to basket

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

Show »
Length:410
Mass (Da):45,925
Checksum:i2EC0F14F0AE12769
GO

Sequence cautioni

The sequence AAK39520.1 differs from that shown. Reason: Erroneous initiation. Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti11 – 111A → R in AAK39520 (PubMed:12107413).Curated
Sequence conflicti273 – 2731R → G in AAH42525 (PubMed:15489334).Curated

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 7575Missing in isoform 2. 1 PublicationVSP_037792Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AL512355 Genomic DNA. No translation available.
BC006414 mRNA. Translation: AAH06414.1.
BC042525 mRNA. Translation: AAH42525.1.
AF353674 mRNA. Translation: AAK39520.1. Different initiation.
CCDSiCCDS10002.2. [Q96KE9-1]
RefSeqiNP_150374.2. NM_033271.2. [Q96KE9-1]
UniGeneiHs.7367.

Genome annotation databases

EnsembliENST00000327471; ENSP00000329361; ENSG00000184887. [Q96KE9-2]
ENST00000392554; ENSP00000376337; ENSG00000184887. [Q96KE9-1]
ENST00000463376; ENSP00000418150; ENSG00000184887. [Q96KE9-2]
ENST00000536364; ENSP00000443091; ENSG00000184887. [Q96KE9-1]
GeneIDi90135.
KEGGihsa:90135.
UCSCiuc059fzp.1. human. [Q96KE9-1]

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AL512355 Genomic DNA. No translation available.
BC006414 mRNA. Translation: AAH06414.1.
BC042525 mRNA. Translation: AAH42525.1.
AF353674 mRNA. Translation: AAK39520.1. Different initiation.
CCDSiCCDS10002.2. [Q96KE9-1]
RefSeqiNP_150374.2. NM_033271.2. [Q96KE9-1]
UniGeneiHs.7367.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
2VKPX-ray1.90A/B76-183[»]
ProteinModelPortaliQ96KE9.
SMRiQ96KE9. Positions 76-255, 339-484.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi124668. 6 interactions.
IntActiQ96KE9. 1 interaction.
STRINGi9606.ENSP00000376337.

PTM databases

iPTMnetiQ96KE9.
PhosphoSiteiQ96KE9.

Polymorphism and mutation databases

BioMutaiBTBD6.
DMDMi254763426.

Proteomic databases

PaxDbiQ96KE9.
PRIDEiQ96KE9.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000327471; ENSP00000329361; ENSG00000184887. [Q96KE9-2]
ENST00000392554; ENSP00000376337; ENSG00000184887. [Q96KE9-1]
ENST00000463376; ENSP00000418150; ENSG00000184887. [Q96KE9-2]
ENST00000536364; ENSP00000443091; ENSG00000184887. [Q96KE9-1]
GeneIDi90135.
KEGGihsa:90135.
UCSCiuc059fzp.1. human. [Q96KE9-1]

Organism-specific databases

CTDi90135.
GeneCardsiBTBD6.
H-InvDBHIX0026634.
HGNCiHGNC:19897. BTBD6.
HPAiHPA031355.
neXtProtiNX_Q96KE9.
PharmGKBiPA128394741.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2075. Eukaryota.
ENOG410XQ3X. LUCA.
GeneTreeiENSGT00550000074511.
HOGENOMiHOG000293364.
HOVERGENiHBG050743.
InParanoidiQ96KE9.
KOiK10478.
OMAiKSEGFCE.
OrthoDBiEOG73BVC6.
PhylomeDBiQ96KE9.
TreeFamiTF106482.

Miscellaneous databases

EvolutionaryTraceiQ96KE9.
GenomeRNAii90135.
PROiQ96KE9.

Gene expression databases

BgeeiQ96KE9.
CleanExiHS_BTBD6.
ExpressionAtlasiQ96KE9. baseline and differential.
GenevisibleiQ96KE9. HS.

Family and domain databases

InterProiIPR011705. BACK.
IPR000210. BTB/POZ_dom.
IPR012983. PHR.
IPR011333. SKP1/BTB/POZ.
[Graphical view]
PfamiPF07707. BACK. 1 hit.
PF00651. BTB. 1 hit.
PF08005. PHR. 1 hit.
[Graphical view]
SMARTiSM00875. BACK. 1 hit.
SM00225. BTB. 1 hit.
[Graphical view]
SUPFAMiSSF54695. SSF54695. 1 hit.
PROSITEiPS50097. BTB. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [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.

Entry informationi

Entry nameiBTBD6_HUMAN
AccessioniPrimary (citable) accession number: Q96KE9
Secondary accession number(s): Q8IVQ7, Q9BR94
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 28, 2003
Last sequence update: July 28, 2009
Last modified: June 8, 2016
This is version 118 of the entry and version 3 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 14
    Human chromosome 14: entries, gene names and cross-references to MIM
  2. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  3. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.