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Protein

Kelch repeat and BTB domain-containing protein 3

Gene

KBTBD3

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

Functioni

GO - Biological processi

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

EuPathDBiHostDB:ENSG00000182359.14
HGNCiHGNC:22934 KBTBD3
neXtProtiNX_Q8NAB2

Subcellular locationi

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
ProteomicsDBi72667

PTM databases

iPTMnetiQ8NAB2
PhosphoSitePlusiQ8NAB2

Expressioni

Gene expression databases

BgeeiENSG00000182359 Expressed in 134 organ(s), highest expression level in corpus callosum
CleanExiHS_KBTBD3
ExpressionAtlasiQ8NAB2 baseline and differential
GenevisibleiQ8NAB2 HS

Organism-specific databases

HPAiHPA047385

Interactioni

Protein-protein interaction databases

BioGridi126820, 2 interactors
IntActiQ8NAB2, 1 interactor

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

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
InterProiView protein in InterPro
IPR011705 BACK
IPR017096 BTB-kelch_protein
IPR000210 BTB/POZ_dom
IPR015915 Kelch-typ_b-propeller
IPR006652 Kelch_1
IPR011333 SKP1/BTB/POZ_sf
PfamiView protein in Pfam
PF07707 BACK, 1 hit
PF00651 BTB, 1 hit
PF01344 Kelch_1, 2 hits
PIRSFiPIRSF037037 Kelch-like_protein_gigaxonin, 1 hit
SMARTiView protein in SMART
SM00875 BACK, 1 hit
SM00225 BTB, 1 hit
SM00612 Kelch, 3 hits
SUPFAMiSSF117281 SSF117281, 1 hit
SSF54695 SSF54695, 1 hit
PROSITEiView protein in PROSITE
PS50097 BTB, 1 hit

Sequence (1+)i

Sequence statusi: Complete.

This entry has 1 described isoform and 3 potential isoforms that are computationally mapped.Show allAlign All

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

Computationally mapped potential isoform sequencesi

There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
G3V161G3V161_HUMAN
Kelch repeat and BTB (POZ) domain c...
KBTBD3 hCG_40528
533Annotation score:
U3KQF6U3KQF6_HUMAN
Kelch repeat and BTB (POZ) domain c...
KBTBD3 hCG_40528
91Annotation score:
E9PKJ3E9PKJ3_HUMAN
Kelch repeat and BTB domain-contain...
KBTBD3
33Annotation score:

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 dbSNP:rs35762821Ensembl.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

Similar proteinsi

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, 2 interactors
IntActiQ8NAB2, 1 interactor

PTM databases

iPTMnetiQ8NAB2
PhosphoSitePlusiQ8NAB2

Polymorphism and mutation databases

BioMutaiKBTBD3
DMDMi34921839

Proteomic databases

PaxDbiQ8NAB2
PeptideAtlasiQ8NAB2
PRIDEiQ8NAB2
ProteomicsDBi72667

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
EuPathDBiHostDB:ENSG00000182359.14
GeneCardsiKBTBD3
HGNCiHGNC:22934 KBTBD3
HPAiHPA047385
neXtProtiNX_Q8NAB2
PharmGKBiPA134920598
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4441 Eukaryota
ENOG410XNX8 LUCA
HOVERGENiHBG052212
InParanoidiQ8NAB2
KOiK10471
OrthoDBiEOG091G02X3
PhylomeDBiQ8NAB2
TreeFamiTF329218

Miscellaneous databases

ChiTaRSiKBTBD3 human
GenomeRNAii143879
PROiPR:Q8NAB2

Gene expression databases

BgeeiENSG00000182359 Expressed in 134 organ(s), highest expression level in corpus callosum
CleanExiHS_KBTBD3
ExpressionAtlasiQ8NAB2 baseline and differential
GenevisibleiQ8NAB2 HS

Family and domain databases

Gene3Di2.120.10.80, 1 hit
InterProiView protein in InterPro
IPR011705 BACK
IPR017096 BTB-kelch_protein
IPR000210 BTB/POZ_dom
IPR015915 Kelch-typ_b-propeller
IPR006652 Kelch_1
IPR011333 SKP1/BTB/POZ_sf
PfamiView protein in Pfam
PF07707 BACK, 1 hit
PF00651 BTB, 1 hit
PF01344 Kelch_1, 2 hits
PIRSFiPIRSF037037 Kelch-like_protein_gigaxonin, 1 hit
SMARTiView protein in SMART
SM00875 BACK, 1 hit
SM00225 BTB, 1 hit
SM00612 Kelch, 3 hits
SUPFAMiSSF117281 SSF117281, 1 hit
SSF54695 SSF54695, 1 hit
PROSITEiView protein in PROSITE
PS50097 BTB, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiKBTB3_HUMAN
AccessioniPrimary (citable) accession number: Q8NAB2
Secondary accession number(s): Q6N066, Q86X38, Q96NK5
Entry historyiIntegrated into UniProtKB/Swiss-Prot: September 19, 2003
Last sequence update: September 19, 2003
Last modified: September 12, 2018
This is version 129 of the entry and version 2 of the sequence. See 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 entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
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