Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Kelch repeat and BTB domain-containing protein 2

Gene

KBTBD2

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

Functioni

GO - Biological processi

Complete GO annotation...

Names & Taxonomyi

Protein namesi
Recommended name:
Kelch repeat and BTB domain-containing protein 2
Alternative name(s):
BTB and kelch domain-containing protein 1
Gene namesi
Name:KBTBD2
Synonyms:BKLHD1, KIAA1489
ORF Names:CGI-73
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 7

Organism-specific databases

HGNCiHGNC:21751. KBTBD2.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Pathology & Biotechi

Organism-specific databases

OpenTargetsiENSG00000170852.
PharmGKBiPA134892896.

Polymorphism and mutation databases

BioMutaiKBTBD2.
DMDMi33301029.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001190771 – 623Kelch repeat and BTB domain-containing protein 2Add BLAST623

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei300PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ8IY47.
MaxQBiQ8IY47.
PaxDbiQ8IY47.
PeptideAtlasiQ8IY47.
PRIDEiQ8IY47.

PTM databases

iPTMnetiQ8IY47.
PhosphoSitePlusiQ8IY47.

Expressioni

Gene expression databases

BgeeiENSG00000170852.
CleanExiHS_KBTBD2.
ExpressionAtlasiQ8IY47. baseline and differential.
GenevisibleiQ8IY47. HS.

Organism-specific databases

HPAiHPA021133.

Interactioni

Protein-protein interaction databases

BioGridi117443. 5 interactors.
STRINGi9606.ENSP00000302586.

Structurei

3D structure databases

ProteinModelPortaliQ8IY47.
SMRiQ8IY47.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini31 – 98BTBPROSITE-ProRule annotationAdd BLAST68
Repeati317 – 380Kelch 1Add BLAST64
Repeati381 – 429Kelch 2Add BLAST49
Repeati431 – 469Kelch 3Add BLAST39
Repeati470 – 529Kelch 4Add BLAST60
Repeati535 – 581Kelch 5Add BLAST47

Sequence similaritiesi

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

Keywords - Domaini

Kelch repeat, Repeat

Phylogenomic databases

eggNOGiKOG4441. Eukaryota.
ENOG410XNX8. LUCA.
GeneTreeiENSGT00850000132244.
HOGENOMiHOG000004807.
HOVERGENiHBG052211.
InParanoidiQ8IY47.
KOiK10470.
OMAiFFYEQKL.
OrthoDBiEOG091G035Y.
PhylomeDBiQ8IY47.
TreeFamiTF332672.

Family and domain databases

Gene3Di2.120.10.80. 1 hit.
InterProiIPR011705. BACK.
IPR017096. BTB-kelch_protein.
IPR000210. BTB/POZ_dom.
IPR030586. KBTBD2.
IPR015915. Kelch-typ_b-propeller.
IPR006652. Kelch_1.
IPR011333. SKP1/BTB/POZ.
[Graphical view]
PANTHERiPTHR24412:SF192. PTHR24412:SF192. 2 hits.
PfamiPF07707. BACK. 1 hit.
PF00651. BTB. 1 hit.
PF01344. Kelch_1. 1 hit.
[Graphical view]
PIRSFiPIRSF037037. Kelch-like_protein_gigaxonin. 1 hit.
SMARTiSM00875. BACK. 1 hit.
SM00225. BTB. 1 hit.
SM00612. Kelch. 4 hits.
[Graphical view]
SUPFAMiSSF54695. SSF54695. 1 hit.
PROSITEiPS50097. BTB. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q8IY47-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MSTQDERQIN TEYAVSLLEQ LKLFYEQQLF TDIVLIVEGT EFPCHKMVLA
60 70 80 90 100
TCSSYFRAMF MSGLSESKQT HVHLRNVDAA TLQIIITYAY TGNLAMNDST
110 120 130 140 150
VEQLYETACF LQVEDVLQRC REYLIKKINA ENCVRLLSFA DLFSCEELKQ
160 170 180 190 200
SAKRMVEHKF TAVYHQDAFM QLSHDLLIDI LSSDNLNVEK EETVREAAML
210 220 230 240 250
WLEYNTESRS QYLSSVLSQI RIDALSEVTQ RAWFQGLPPN DKSVVVQGLY
260 270 280 290 300
KSMPKFFKPR LGMTKEEMMI FIEASSENPC SLYSSVCYSP QAEKVYKLCS
310 320 330 340 350
PPADLHKVGT VVTPDNDIYI AGGQVPLKNT KTNHSKTSKL QTAFRTVNCF
360 370 380 390 400
YWFDAQQNTW FPKTPMLFVR IKPSLVCCEG YIYAIGGDSV GGELNRRTVE
410 420 430 440 450
RYDTEKDEWT MVSPLPCAWQ WSAAVVVHDC IYVMTLNLMY CYFPRSDSWV
460 470 480 490 500
EMAMRQTSRS FASAAAFGDK IFYIGGLHIA TNSGIRLPSG TVDGSSVTVE
510 520 530 540 550
IYDVNKNEWK MAANIPAKRY SDPCVRAVVI SNSLCVFMRE THLNERAKYV
560 570 580 590 600
TYQYDLELDR WSLRQHISER VLWDLGRDFR CTVGKLYPSC LEESPWKPPT
610 620
YLFSTDGTEE FELDGEMVAL PPV
Length:623
Mass (Da):71,331
Last modified:July 25, 2003 - v2
Checksum:iA999ED0429B92772
GO

Sequence cautioni

The sequence AAD34068 differs from that shown. Reason: Frameshift at position 328.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti167D → V in AAD34068 (PubMed:10810093).Curated1
Sequence conflicti181L → F in AAD34068 (PubMed:10810093).Curated1
Sequence conflicti276S → A in CAB55994 (PubMed:17974005).Curated1
Sequence conflicti543L → S in CAB55994 (PubMed:17974005).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_037766166Q → K.1 PublicationCorresponds to variant rs17853781dbSNPEnsembl.1
Natural variantiVAR_037767189E → G.1 PublicationCorresponds to variant rs17854425dbSNPEnsembl.1
Natural variantiVAR_037768193T → P.Corresponds to variant rs35477666dbSNPEnsembl.1
Natural variantiVAR_037769254P → R.1 PublicationCorresponds to variant rs17857323dbSNPEnsembl.1
Natural variantiVAR_037770301P → R.1 PublicationCorresponds to variant rs17857324dbSNPEnsembl.1
Natural variantiVAR_037771534L → I.1 PublicationCorresponds to variant rs17854424dbSNPEnsembl.1
Natural variantiVAR_037772594S → Y.1 PublicationCorresponds to variant rs17853783dbSNPEnsembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK292802 mRNA. Translation: BAF85491.1.
CH471073 Genomic DNA. Translation: EAW94000.1.
BC037887 mRNA. Translation: AAH37887.1.
BC047107 mRNA. Translation: AAH47107.1.
AF151831 mRNA. Translation: AAD34068.1. Frameshift.
AB040922 mRNA. Translation: BAA96013.1.
AL117562 mRNA. Translation: CAB55994.1.
CCDSiCCDS34614.1.
PIRiT17304.
RefSeqiNP_056298.2. NM_015483.2.
XP_005249753.1. XM_005249696.2.
XP_011513558.1. XM_011515256.2.
UniGeneiHs.372541.

Genome annotation databases

EnsembliENST00000304056; ENSP00000302586; ENSG00000170852.
GeneIDi25948.
KEGGihsa:25948.
UCSCiuc003tdb.3. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK292802 mRNA. Translation: BAF85491.1.
CH471073 Genomic DNA. Translation: EAW94000.1.
BC037887 mRNA. Translation: AAH37887.1.
BC047107 mRNA. Translation: AAH47107.1.
AF151831 mRNA. Translation: AAD34068.1. Frameshift.
AB040922 mRNA. Translation: BAA96013.1.
AL117562 mRNA. Translation: CAB55994.1.
CCDSiCCDS34614.1.
PIRiT17304.
RefSeqiNP_056298.2. NM_015483.2.
XP_005249753.1. XM_005249696.2.
XP_011513558.1. XM_011515256.2.
UniGeneiHs.372541.

3D structure databases

ProteinModelPortaliQ8IY47.
SMRiQ8IY47.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi117443. 5 interactors.
STRINGi9606.ENSP00000302586.

PTM databases

iPTMnetiQ8IY47.
PhosphoSitePlusiQ8IY47.

Polymorphism and mutation databases

BioMutaiKBTBD2.
DMDMi33301029.

Proteomic databases

EPDiQ8IY47.
MaxQBiQ8IY47.
PaxDbiQ8IY47.
PeptideAtlasiQ8IY47.
PRIDEiQ8IY47.

Protocols and materials databases

DNASUi25948.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000304056; ENSP00000302586; ENSG00000170852.
GeneIDi25948.
KEGGihsa:25948.
UCSCiuc003tdb.3. human.

Organism-specific databases

CTDi25948.
GeneCardsiKBTBD2.
H-InvDBHIX0006584.
HGNCiHGNC:21751. KBTBD2.
HPAiHPA021133.
neXtProtiNX_Q8IY47.
OpenTargetsiENSG00000170852.
PharmGKBiPA134892896.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4441. Eukaryota.
ENOG410XNX8. LUCA.
GeneTreeiENSGT00850000132244.
HOGENOMiHOG000004807.
HOVERGENiHBG052211.
InParanoidiQ8IY47.
KOiK10470.
OMAiFFYEQKL.
OrthoDBiEOG091G035Y.
PhylomeDBiQ8IY47.
TreeFamiTF332672.

Miscellaneous databases

GenomeRNAii25948.
PROiQ8IY47.

Gene expression databases

BgeeiENSG00000170852.
CleanExiHS_KBTBD2.
ExpressionAtlasiQ8IY47. baseline and differential.
GenevisibleiQ8IY47. HS.

Family and domain databases

Gene3Di2.120.10.80. 1 hit.
InterProiIPR011705. BACK.
IPR017096. BTB-kelch_protein.
IPR000210. BTB/POZ_dom.
IPR030586. KBTBD2.
IPR015915. Kelch-typ_b-propeller.
IPR006652. Kelch_1.
IPR011333. SKP1/BTB/POZ.
[Graphical view]
PANTHERiPTHR24412:SF192. PTHR24412:SF192. 2 hits.
PfamiPF07707. BACK. 1 hit.
PF00651. BTB. 1 hit.
PF01344. Kelch_1. 1 hit.
[Graphical view]
PIRSFiPIRSF037037. Kelch-like_protein_gigaxonin. 1 hit.
SMARTiSM00875. BACK. 1 hit.
SM00225. BTB. 1 hit.
SM00612. Kelch. 4 hits.
[Graphical view]
SUPFAMiSSF54695. SSF54695. 1 hit.
PROSITEiPS50097. BTB. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiKBTB2_HUMAN
AccessioniPrimary (citable) accession number: Q8IY47
Secondary accession number(s): A8K9T7
, Q86Y62, Q9P239, Q9UFM7, Q9Y382
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 25, 2003
Last sequence update: July 25, 2003
Last modified: November 2, 2016
This is version 122 of the entry and version 2 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 7
    Human chromosome 7: 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.