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Protein

Ankyrin repeat and BTB/POZ domain-containing protein BTBD11

Gene

BTBD11

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-Experimental evidence at transcript leveli

Functioni

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Names & Taxonomyi

Protein namesi
Recommended name:
Ankyrin repeat and BTB/POZ domain-containing protein BTBD11
Alternative name(s):
BTB/POZ domain-containing protein 11
Gene namesi
Name:BTBD11
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 12

Organism-specific databases

HGNCiHGNC:23844. BTBD11.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transmembranei168 – 188HelicalSequence analysisAdd BLAST21

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Organism-specific databases

DisGeNETi121551.
OpenTargetsiENSG00000151136.
PharmGKBiPA134975180.

Polymorphism and mutation databases

BioMutaiBTBD11.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003288271 – 1104Ankyrin repeat and BTB/POZ domain-containing protein BTBD11Add BLAST1104

Proteomic databases

MaxQBiA6QL63.
PaxDbiA6QL63.
PRIDEiA6QL63.

PTM databases

iPTMnetiA6QL63.
PhosphoSitePlusiA6QL63.

Expressioni

Inductioni

By all-trans retinoic acid (ATRA).

Gene expression databases

BgeeiENSG00000151136.
CleanExiHS_BTBD11.
ExpressionAtlasiA6QL63. baseline and differential.
GenevisibleiA6QL63. HS.

Organism-specific databases

HPAiHPA055898.

Interactioni

GO - Molecular functioni

Protein-protein interaction databases

BioGridi125738. 1 interactor.
IntActiA6QL63. 1 interactor.
STRINGi9606.ENSP00000280758.

Structurei

3D structure databases

ProteinModelPortaliA6QL63.
SMRiA6QL63.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati603 – 632ANK 1Add BLAST30
Repeati649 – 678ANK 2Add BLAST30
Repeati687 – 716ANK 3Add BLAST30
Repeati730 – 759ANK 4Add BLAST30
Repeati825 – 854ANK 5Add BLAST30
Domaini923 – 989BTBPROSITE-ProRule annotationAdd BLAST67

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi280 – 330Ala-richAdd BLAST51
Compositional biasi332 – 341His-rich10

Sequence similaritiesi

Contains 5 ANK repeats.PROSITE-ProRule annotation
Contains 1 BTB (POZ) domain.PROSITE-ProRule annotation

Keywords - Domaini

ANK repeat, Repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IESM. Eukaryota.
ENOG410XRDX. LUCA.
GeneTreeiENSGT00550000074669.
HOGENOMiHOG000033776.
HOVERGENiHBG050447.
InParanoidiA6QL63.
KOiK10483.
OMAiSINTENC.
OrthoDBiEOG091G010V.
PhylomeDBiA6QL63.
TreeFamiTF106437.

Family and domain databases

Gene3Di1.10.20.10. 3 hits.
1.25.40.20. 3 hits.
InterProiIPR002110. Ankyrin_rpt.
IPR020683. Ankyrin_rpt-contain_dom.
IPR000210. BTB/POZ_dom.
IPR009072. Histone-fold.
IPR011333. SKP1/BTB/POZ.
[Graphical view]
PfamiPF00023. Ank. 1 hit.
PF12796. Ank_2. 1 hit.
PF00651. BTB. 1 hit.
[Graphical view]
SMARTiSM00248. ANK. 4 hits.
SM00225. BTB. 1 hit.
[Graphical view]
SUPFAMiSSF47113. SSF47113. 3 hits.
SSF48403. SSF48403. 1 hit.
SSF54695. SSF54695. 1 hit.
PROSITEiPS50297. ANK_REP_REGION. 1 hit.
PS50088. ANK_REPEAT. 3 hits.
PS50097. BTB. 1 hit.
[Graphical view]

Sequences (5)i

Sequence statusi: Complete.

This entry describes 5 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: A6QL63-1) [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
MARRGKKPVV RTLEDLTLDS GYGGAADSVR SSNLSLCCSD SHPASPYGGS
60 70 80 90 100
CWPPLADSMH SRHNSFDTVN TALVEDSEGL DCAGQHCSRL LPDLDEVPWT
110 120 130 140 150
LQELEALLLR SRDPRAGPAV PGGLPKDALA KLSTLVSRAL VRIAKEAQRL
160 170 180 190 200
SLRFAKCTKY EIQSAMEIVL SWGLAAHCTA AALAALSLYN MSSAGGDRLG
210 220 230 240 250
RGKSARCGLT FSVGRVYRWM VDSRVALRIH EHAAIYLTAC MESLFRDIYS
260 270 280 290 300
RVVASGVPRS CSGPGSGSGS GPGPSSGPGA APAADKEREA PGGGAASGGA
310 320 330 340 350
CSAASSASGG SSCCAPPAAA AAAVPPAAAA NHHHHHHHAL HEAPKFTVET
360 370 380 390 400
LEHTVNNDSE IWGLLQPYQH LICGKNASGV LCLPDSLNLH RDPQRSNKPG
410 420 430 440 450
ELPMFSQSEL RTIEQSLLAT RVGSIAELSD LVSRAMHHLQ PLNAKHHGNG
460 470 480 490 500
TPLHHKQGAL YWEPEALYTL CYFMHCPQME WENPNVEPSK VNLQVERPFL
510 520 530 540 550
VLPPLMEWIR VAVAHAGHRR SFSMDSDDVR QAARLLLPGV DCEPRQLRAD
560 570 580 590 600
DCFCASRKLD AVAIEAKFKQ DLGFRMLNCG RTDLVKQAVS LLGPDGINTM
610 620 630 640 650
SEQGMTPLMY ACVRGDEAMV QMLLDAGADL NVEVVSTPHK YPSVHPETRH
660 670 680 690 700
WTALTFAVLH GHIPVVQLLL DAGAKVEGSV EHGEENYSET PLQLAAAVGN
710 720 730 740 750
FELVSLLLER GADPLIGTMY RNGISTTPQG DMNSFSQAAA HGHRNVFRKL
760 770 780 790 800
LAQPEKEKSD ILSLEEILAE GTDLAETAPP PLCASRNSKA KLRALREAMY
810 820 830 840 850
HSAEHGYVDV TIDIRSIGVP WTLHTWLESL RIAFQQHRRP LIQCLLKEFK
860 870 880 890 900
TIQEEEYTEE LVTQGLPLMF EILKASKNEV ISQQLCVIFT HCYGPYPIPK
910 920 930 940 950
LTEIKRKQTS RLDPHFLNNK EMSDVTFLVE GRPFYAHKVL LFTASPRFKA
960 970 980 990 1000
LLSSKPTNDG TCIEIGYVKY SIFQLVMQYL YYGGPESLLI KNNEIMELLS
1010 1020 1030 1040 1050
AAKFFQLEAL QRHCEIICAK SINTDNCVDI YNHAKFLGVT ELSAYCEGYF
1060 1070 1080 1090 1100
LKNMMVLIEN EAFKQLLYDK NGEGTGQDVL QDLQRTLAIR IQSIHLSSSK

GSVV
Length:1,104
Mass (Da):120,884
Last modified:November 24, 2009 - v3
Checksum:i118D5C668CB78A3E
GO
Isoform 2 (identifier: A6QL63-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     699-817: Missing.

Note: No experimental confirmation available.
Show »
Length:985
Mass (Da):107,867
Checksum:i143A780F66A6C711
GO
Isoform 3 (identifier: A6QL63-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     998-1104: LLSAAKFFQL...HLSSSKGSVV → VRDPLWCWLS

Note: No experimental confirmation available.
Show »
Length:1,007
Mass (Da):110,143
Checksum:i01429CBB6D70708F
GO
Isoform 4 (identifier: A6QL63-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-921: Missing.

Show »
Length:183
Mass (Da):20,686
Checksum:i8EE7B21C420B83DF
GO
Isoform 5 (identifier: A6QL63-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-33: MARRGKKPVVRTLEDLTLDSGYGGAADSVRSSN → MRKLRPKDSREPAPGSPVRSGCLQRLSHYSGIQ
     34-496: Missing.

Note: No experimental confirmation available.
Show »
Length:641
Mass (Da):71,876
Checksum:iDB1ABB3072799348
GO

Sequence cautioni

The sequence AAI01562 differs from that shown. Reason: Erroneous initiation.Curated
The sequence AAI01564 differs from that shown. Reason: Erroneous initiation.Curated
The sequence AAI46825 differs from that shown. Contaminating sequence. Potential poly-A sequence.Curated
The sequence AAR21078 differs from that shown. Reason: Erroneous initiation.Curated
The sequence BAC85963 differs from that shown. Reason: Erroneous initiation.Curated
The sequence EAW97799 differs from that shown. Reason: Erroneous gene model prediction.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti224R → H in AAI46825 (PubMed:15489334).Curated1
Sequence conflicti361I → V in BAC85963 (PubMed:14702039).Curated1
Sequence conflicti653A → V in BAG54475 (PubMed:14702039).Curated1
Sequence conflicti1043S → P in BAC03626 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_055560448G → S.Corresponds to variant rs1558781dbSNPEnsembl.1
Natural variantiVAR_0425341002A → D.Corresponds to variant rs11610050dbSNPEnsembl.1
Natural variantiVAR_0425351076G → S.Corresponds to variant rs12303478dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0328011 – 921Missing in isoform 4. 1 PublicationAdd BLAST921
Alternative sequenceiVSP_0458021 – 33MARRG…VRSSN → MRKLRPKDSREPAPGSPVRS GCLQRLSHYSGIQ in isoform 5. 1 PublicationAdd BLAST33
Alternative sequenceiVSP_04580334 – 496Missing in isoform 5. 1 PublicationAdd BLAST463
Alternative sequenceiVSP_032802699 – 817Missing in isoform 2. 1 PublicationAdd BLAST119
Alternative sequenceiVSP_032803998 – 1104LLSAA…KGSVV → VRDPLWCWLS in isoform 3. 1 PublicationAdd BLAST107

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK091276 mRNA. Translation: BAC03626.1.
AK124835 mRNA. Translation: BAC85963.1. Different initiation.
AK127295 mRNA. Translation: BAG54475.1.
AC007540 Genomic DNA. No translation available.
AC007649 Genomic DNA. No translation available.
AC009774 Genomic DNA. No translation available.
CH471054 Genomic DNA. Translation: EAW97799.1. Sequence problems.
CH471054 Genomic DNA. Translation: EAW97800.1.
BC093627 mRNA. Translation: AAH93627.1.
BC093629 mRNA. Translation: AAH93629.1.
BC101561 mRNA. Translation: AAI01562.1. Different initiation.
BC101563 mRNA. Translation: AAI01564.1. Different initiation.
BC146824 mRNA. Translation: AAI46825.1. Sequence problems.
AY373588 mRNA. Translation: AAR21078.1. Different initiation.
CCDSiCCDS31893.1. [A6QL63-1]
CCDS41827.1. [A6QL63-5]
RefSeqiNP_001017523.1. NM_001017523.1. [A6QL63-5]
NP_001018082.1. NM_001018072.1. [A6QL63-1]
UniGeneiHs.271272.

Genome annotation databases

EnsembliENST00000280758; ENSP00000280758; ENSG00000151136. [A6QL63-1]
ENST00000357167; ENSP00000349690; ENSG00000151136. [A6QL63-5]
ENST00000420571; ENSP00000413889; ENSG00000151136. [A6QL63-2]
ENST00000490090; ENSP00000447319; ENSG00000151136. [A6QL63-3]
ENST00000494235; ENSP00000448322; ENSG00000151136. [A6QL63-4]
GeneIDi121551.
KEGGihsa:121551.
UCSCiuc001tmj.4. human. [A6QL63-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK091276 mRNA. Translation: BAC03626.1.
AK124835 mRNA. Translation: BAC85963.1. Different initiation.
AK127295 mRNA. Translation: BAG54475.1.
AC007540 Genomic DNA. No translation available.
AC007649 Genomic DNA. No translation available.
AC009774 Genomic DNA. No translation available.
CH471054 Genomic DNA. Translation: EAW97799.1. Sequence problems.
CH471054 Genomic DNA. Translation: EAW97800.1.
BC093627 mRNA. Translation: AAH93627.1.
BC093629 mRNA. Translation: AAH93629.1.
BC101561 mRNA. Translation: AAI01562.1. Different initiation.
BC101563 mRNA. Translation: AAI01564.1. Different initiation.
BC146824 mRNA. Translation: AAI46825.1. Sequence problems.
AY373588 mRNA. Translation: AAR21078.1. Different initiation.
CCDSiCCDS31893.1. [A6QL63-1]
CCDS41827.1. [A6QL63-5]
RefSeqiNP_001017523.1. NM_001017523.1. [A6QL63-5]
NP_001018082.1. NM_001018072.1. [A6QL63-1]
UniGeneiHs.271272.

3D structure databases

ProteinModelPortaliA6QL63.
SMRiA6QL63.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi125738. 1 interactor.
IntActiA6QL63. 1 interactor.
STRINGi9606.ENSP00000280758.

PTM databases

iPTMnetiA6QL63.
PhosphoSitePlusiA6QL63.

Polymorphism and mutation databases

BioMutaiBTBD11.

Proteomic databases

MaxQBiA6QL63.
PaxDbiA6QL63.
PRIDEiA6QL63.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000280758; ENSP00000280758; ENSG00000151136. [A6QL63-1]
ENST00000357167; ENSP00000349690; ENSG00000151136. [A6QL63-5]
ENST00000420571; ENSP00000413889; ENSG00000151136. [A6QL63-2]
ENST00000490090; ENSP00000447319; ENSG00000151136. [A6QL63-3]
ENST00000494235; ENSP00000448322; ENSG00000151136. [A6QL63-4]
GeneIDi121551.
KEGGihsa:121551.
UCSCiuc001tmj.4. human. [A6QL63-1]

Organism-specific databases

CTDi121551.
DisGeNETi121551.
GeneCardsiBTBD11.
HGNCiHGNC:23844. BTBD11.
HPAiHPA055898.
neXtProtiNX_A6QL63.
OpenTargetsiENSG00000151136.
PharmGKBiPA134975180.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IESM. Eukaryota.
ENOG410XRDX. LUCA.
GeneTreeiENSGT00550000074669.
HOGENOMiHOG000033776.
HOVERGENiHBG050447.
InParanoidiA6QL63.
KOiK10483.
OMAiSINTENC.
OrthoDBiEOG091G010V.
PhylomeDBiA6QL63.
TreeFamiTF106437.

Miscellaneous databases

ChiTaRSiBTBD11. human.
GenomeRNAii121551.
PROiA6QL63.

Gene expression databases

BgeeiENSG00000151136.
CleanExiHS_BTBD11.
ExpressionAtlasiA6QL63. baseline and differential.
GenevisibleiA6QL63. HS.

Family and domain databases

Gene3Di1.10.20.10. 3 hits.
1.25.40.20. 3 hits.
InterProiIPR002110. Ankyrin_rpt.
IPR020683. Ankyrin_rpt-contain_dom.
IPR000210. BTB/POZ_dom.
IPR009072. Histone-fold.
IPR011333. SKP1/BTB/POZ.
[Graphical view]
PfamiPF00023. Ank. 1 hit.
PF12796. Ank_2. 1 hit.
PF00651. BTB. 1 hit.
[Graphical view]
SMARTiSM00248. ANK. 4 hits.
SM00225. BTB. 1 hit.
[Graphical view]
SUPFAMiSSF47113. SSF47113. 3 hits.
SSF48403. SSF48403. 1 hit.
SSF54695. SSF54695. 1 hit.
PROSITEiPS50297. ANK_REP_REGION. 1 hit.
PS50088. ANK_REPEAT. 3 hits.
PS50097. BTB. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiBTBDB_HUMAN
AccessioniPrimary (citable) accession number: A6QL63
Secondary accession number(s): A4FU41
, B3KXG3, C9J019, C9JK80, E9PHS4, Q3ZTQ4, Q52M89, Q6ZV99, Q8N245
Entry historyi
Integrated into UniProtKB/Swiss-Prot: April 8, 2008
Last sequence update: November 24, 2009
Last modified: November 2, 2016
This is version 85 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

Complete proteome, Reference proteome

Documents

  1. Human chromosome 12
    Human chromosome 12: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. 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.