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Protein

Kelch repeat and BTB domain-containing protein 3

Gene

KBTBD3

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 2 out of 5-Experimental evidence at transcript leveli

Functioni

GO - Biological processi

Complete GO annotation...

Enzyme and pathway databases

BioCyciZFISH:G66-33010-MONOMER.

Names & Taxonomyi

Protein namesi
Recommended name:
Kelch repeat and BTB domain-containing protein 3
Alternative name(s):
BTB and kelch domain-containing protein 3
Gene namesi
Name:KBTBD3
Synonyms:BKLHD3
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 11

Organism-specific databases

HGNCiHGNC:22934. KBTBD3.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA134920598.

Polymorphism and mutation databases

BioMutaiKBTBD3.
DMDMi34921839.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001190781 – 608Kelch repeat and BTB domain-containing protein 3Add BLAST608

Proteomic databases

PaxDbiQ8NAB2.
PeptideAtlasiQ8NAB2.
PRIDEiQ8NAB2.

PTM databases

iPTMnetiQ8NAB2.
PhosphoSitePlusiQ8NAB2.

Expressioni

Gene expression databases

BgeeiENSG00000182359.
CleanExiHS_KBTBD3.
ExpressionAtlasiQ8NAB2. baseline and differential.
GenevisibleiQ8NAB2. HS.

Organism-specific databases

HPAiHPA047385.

Interactioni

Protein-protein interaction databases

BioGridi126820. 1 interactor.
IntActiQ8NAB2. 1 interactor.
STRINGi9606.ENSP00000432163.

Structurei

3D structure databases

ProteinModelPortaliQ8NAB2.
SMRiQ8NAB2.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini48 – 115BTBPROSITE-ProRule annotationAdd BLAST68
Domaini150 – 252BACKAdd BLAST103
Repeati291 – 337Kelch 1Add BLAST47
Repeati339 – 399Kelch 2Add BLAST61
Repeati400 – 450Kelch 3Add BLAST51
Repeati452 – 502Kelch 4Add BLAST51
Repeati548 – 595Kelch 5Add BLAST48

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.
HOVERGENiHBG052212.
InParanoidiQ8NAB2.
KOiK10471.
OrthoDBiEOG091G02X3.
PhylomeDBiQ8NAB2.
TreeFamiTF329218.

Family and domain databases

Gene3Di2.120.10.80. 1 hit.
InterProiIPR011705. BACK.
IPR017096. BTB-kelch_protein.
IPR000210. BTB/POZ_dom.
IPR030589. KBTBD3.
IPR015915. Kelch-typ_b-propeller.
IPR006652. Kelch_1.
IPR011333. SKP1/BTB/POZ.
[Graphical view]
PANTHERiPTHR24412:SF5. PTHR24412:SF5. 1 hit.
PfamiPF07707. BACK. 1 hit.
PF00651. BTB. 1 hit.
PF01344. Kelch_1. 2 hits.
[Graphical view]
PIRSFiPIRSF037037. Kelch-like_protein_gigaxonin. 1 hit.
SMARTiSM00875. BACK. 1 hit.
SM00225. BTB. 1 hit.
SM00612. Kelch. 3 hits.
[Graphical view]
SUPFAMiSSF54695. SSF54695. 1 hit.
PROSITEiPS50097. BTB. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q8NAB2-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MDNSYAFNQR STCNGIPSEK KNNFLVSEDH GQKILSVLQN FREQNVFYDF
60 70 80 90 100
KIIMKDEIIP CHRCVLAACS DFFRAMFEVN MKERDDGSVT ITNLSSKAVK
110 120 130 140 150
AFLDYAYTGK TKITDDNVEM FFQLSSFLQV SFLSKACSDF LIKSINLVNC
160 170 180 190 200
LQLLSISDSY GSTSLFDHAL HFVQHHFSLL FKSSDFLEMN FGVLQKCLES
210 220 230 240 250
DELNVPEEEM VLKVVLSWTK HNLESRQKYL PHLIEKVRLH QLSEETLQDC
260 270 280 290 300
LFNEESLLKS TNCFDIIMDA IKCVQGSGGL FPDARPSTTE KYIFIHKTEE
310 320 330 340 350
NGENQYTFCY NIKSDSWKIL PQSHLIDLPG SSLSSYGEKI FLTGGCKGKC
360 370 380 390 400
CRTVRLHIAE SYHDATDQTW CYCPVKNDFF LVSTMKTPRT MHTSVMALDR
410 420 430 440 450
LFVIGGKTRG SRDIKSLLDV ESYNPLSKEW ISVSPLPRGI YYPEASTCQN
460 470 480 490 500
VIYVLGSEVE ITDAFNPSLD CFFKYNATTD QWSELVAEFG QFFHATLIKA
510 520 530 540 550
VPVNCTLYIC DLSTYKVYSF CPDTCVWKGE GSFECAGFNA GAIGIEDKIY
560 570 580 590 600
ILGGDYAPDE ITDEVQVYHS NRSEWEEVSP MPRALTEFYC QVIQFNKYRD

PWFSNLCA
Length:608
Mass (Da):69,395
Last modified:September 19, 2003 - v2
Checksum:i90EC46DAB57C39A6
GO

Sequence cautioni

The sequence AAI17467 differs from that shown. Reason: Erroneous initiation.Curated
The sequence CAE45804 differs from that shown. Reason: Erroneous initiation.Curated
The sequence EAW67073 differs from that shown. Reason: Erroneous initiation.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti23N → S in BAC04012 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_056124189M → V.Corresponds to variant rs35762821dbSNPEnsembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK092993 mRNA. Translation: BAC04012.1.
BX640672 mRNA. Translation: CAE45804.1. Different initiation.
AP001001 Genomic DNA. No translation available.
CH471065 Genomic DNA. Translation: EAW67073.1. Different initiation.
BC117466 mRNA. Translation: AAI17467.1. Different initiation.
RefSeqiNP_689646.2. NM_152433.3.
NP_940841.1. NM_198439.2.
XP_006718830.1. XM_006718767.3.
XP_011540920.1. XM_011542618.2.
UniGeneiHs.101949.

Genome annotation databases

EnsembliENST00000526793; ENSP00000436262; ENSG00000182359.
ENST00000531837; ENSP00000432163; ENSG00000182359.
GeneIDi143879.
KEGGihsa:143879.
UCSCiuc001pja.4. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK092993 mRNA. Translation: BAC04012.1.
BX640672 mRNA. Translation: CAE45804.1. Different initiation.
AP001001 Genomic DNA. No translation available.
CH471065 Genomic DNA. Translation: EAW67073.1. Different initiation.
BC117466 mRNA. Translation: AAI17467.1. Different initiation.
RefSeqiNP_689646.2. NM_152433.3.
NP_940841.1. NM_198439.2.
XP_006718830.1. XM_006718767.3.
XP_011540920.1. XM_011542618.2.
UniGeneiHs.101949.

3D structure databases

ProteinModelPortaliQ8NAB2.
SMRiQ8NAB2.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi126820. 1 interactor.
IntActiQ8NAB2. 1 interactor.
STRINGi9606.ENSP00000432163.

PTM databases

iPTMnetiQ8NAB2.
PhosphoSitePlusiQ8NAB2.

Polymorphism and mutation databases

BioMutaiKBTBD3.
DMDMi34921839.

Proteomic databases

PaxDbiQ8NAB2.
PeptideAtlasiQ8NAB2.
PRIDEiQ8NAB2.

Protocols and materials databases

DNASUi143879.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000526793; ENSP00000436262; ENSG00000182359.
ENST00000531837; ENSP00000432163; ENSG00000182359.
GeneIDi143879.
KEGGihsa:143879.
UCSCiuc001pja.4. human.

Organism-specific databases

CTDi143879.
GeneCardsiKBTBD3.
HGNCiHGNC:22934. KBTBD3.
HPAiHPA047385.
neXtProtiNX_Q8NAB2.
PharmGKBiPA134920598.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4441. Eukaryota.
ENOG410XNX8. LUCA.
HOVERGENiHBG052212.
InParanoidiQ8NAB2.
KOiK10471.
OrthoDBiEOG091G02X3.
PhylomeDBiQ8NAB2.
TreeFamiTF329218.

Enzyme and pathway databases

BioCyciZFISH:G66-33010-MONOMER.

Miscellaneous databases

GenomeRNAii143879.
PROiQ8NAB2.

Gene expression databases

BgeeiENSG00000182359.
CleanExiHS_KBTBD3.
ExpressionAtlasiQ8NAB2. baseline and differential.
GenevisibleiQ8NAB2. HS.

Family and domain databases

Gene3Di2.120.10.80. 1 hit.
InterProiIPR011705. BACK.
IPR017096. BTB-kelch_protein.
IPR000210. BTB/POZ_dom.
IPR030589. KBTBD3.
IPR015915. Kelch-typ_b-propeller.
IPR006652. Kelch_1.
IPR011333. SKP1/BTB/POZ.
[Graphical view]
PANTHERiPTHR24412:SF5. PTHR24412:SF5. 1 hit.
PfamiPF07707. BACK. 1 hit.
PF00651. BTB. 1 hit.
PF01344. Kelch_1. 2 hits.
[Graphical view]
PIRSFiPIRSF037037. Kelch-like_protein_gigaxonin. 1 hit.
SMARTiSM00875. BACK. 1 hit.
SM00225. BTB. 1 hit.
SM00612. Kelch. 3 hits.
[Graphical view]
SUPFAMiSSF54695. SSF54695. 1 hit.
PROSITEiPS50097. BTB. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiKBTB3_HUMAN
AccessioniPrimary (citable) accession number: Q8NAB2
Secondary accession number(s): Q6N066, Q86X38, Q96NK5
Entry historyi
Integrated into UniProtKB/Swiss-Prot: September 19, 2003
Last sequence update: September 19, 2003
Last modified: November 2, 2016
This is version 118 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 11
    Human chromosome 11: 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.