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 4

Gene

KBTBD4

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

Functioni

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Names & Taxonomyi

Protein namesi
Recommended name:
Kelch repeat and BTB domain-containing protein 4
Alternative name(s):
BTB and kelch domain-containing protein 4
Gene namesi
Name:KBTBD4
Synonyms:BKLHD4
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 11

Organism-specific databases

HGNCiHGNC:23761. KBTBD4.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Pathology & Biotechi

Organism-specific databases

OpenTargetsiENSG00000123444.
PharmGKBiPA134883813.

Polymorphism and mutation databases

BioMutaiKBTBD4.
DMDMi116242601.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001190801 – 518Kelch repeat and BTB domain-containing protein 4Add BLAST518

Proteomic databases

EPDiQ9NVX7.
MaxQBiQ9NVX7.
PaxDbiQ9NVX7.
PeptideAtlasiQ9NVX7.
PRIDEiQ9NVX7.

PTM databases

iPTMnetiQ9NVX7.
PhosphoSitePlusiQ9NVX7.

Expressioni

Gene expression databases

BgeeiENSG00000123444.
CleanExiHS_KBTBD4.
ExpressionAtlasiQ9NVX7. baseline and differential.
GenevisibleiQ9NVX7. HS.

Organism-specific databases

HPAiHPA037792.
HPA037793.

Interactioni

GO - Molecular functioni

Protein-protein interaction databases

BioGridi120833. 17 interactors.
IntActiQ9NVX7. 2 interactors.
MINTiMINT-4717449.

Structurei

Secondary structure

1518
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Turni144 – 146Combined sources3
Helixi147 – 156Combined sources10
Helixi160 – 172Combined sources13
Helixi175 – 178Combined sources4
Helixi181 – 185Combined sources5
Helixi188 – 196Combined sources9
Helixi205 – 214Combined sources10
Helixi217 – 230Combined sources14
Beta strandi233 – 236Combined sources4

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2EQXNMR-A142-239[»]
ProteinModelPortaliQ9NVX7.
SMRiQ9NVX7.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ9NVX7.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini45 – 112BTBPROSITE-ProRule annotationAdd BLAST68
Domaini147 – 239BACKAdd BLAST93
Repeati239 – 285Kelch 1Add BLAST47
Repeati286 – 328Kelch 2Add BLAST43
Repeati331 – 378Kelch 3Add BLAST48
Repeati380 – 430Kelch 4Add BLAST51
Repeati432 – 481Kelch 5Add BLAST50

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.
GeneTreeiENSGT00390000000361.
HOGENOMiHOG000231393.
HOVERGENiHBG052213.
InParanoidiQ9NVX7.
KOiK10472.
PhylomeDBiQ9NVX7.
TreeFamiTF330249.

Family and domain databases

Gene3Di2.120.10.80. 1 hit.
InterProiIPR011705. BACK.
IPR000210. BTB/POZ_dom.
IPR015915. Kelch-typ_b-propeller.
IPR011333. SKP1/BTB/POZ.
[Graphical view]
PfamiPF07707. BACK. 1 hit.
PF00651. BTB. 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: Q9NVX7-1) [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
MESPEEPGAS MDENYFVNYT FKDRSHSGRV AQGIMKLCLE EELFADVTIS
60 70 80 90 100
VEGREFQLHR LVLSAQSCFF RSMFTSNLKE AHNRVIVLQD VSESVFQLLV
110 120 130 140 150
DYIYHGTVKL RAEELQEIYE VSDMYQLTSL FEECSRFLAR TVQVGNCLQV
160 170 180 190 200
MWLADRHSDP ELYTAAKHCA KTHLAQLQNT EEFLHLPHRL LTDIISDGVP
210 220 230 240 250
CSQNPTEAIE AWINFNKEER EAFAESLRTS LKEIGENVHI YLIGKESSRT
260 270 280 290 300
HSLAVSLHCA EDDSISVSGQ NSLCHQITAA CKHGGDLYVV GGSIPRRMWK
310 320 330 340 350
CNNATVDWEW CAPLPRDRLQ HTLVSVPGKD AIYSLGGKTL QDTLSNAVIY
360 370 380 390 400
YRVGDNVWTE TTQLEVAVSG AAGANLNGII YLLGGEENDL DFFTKPSRLI
410 420 430 440 450
QCFDTETDKC HVKPYVLPFA GRMHAAVHKD LVFIVAEGDS LVCYNPLLDS
460 470 480 490 500
FTRLCLPEAW SSAPSLWKIA SCNGSIYVFR DRYKKGDANT YKLDPATSAV
510
TVTRGIKVLL TNLQFVLA
Length:518
Mass (Da):58,144
Last modified:October 17, 2006 - v3
Checksum:i4522BC807A22D70D
GO
Isoform 2 (identifier: Q9NVX7-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MKGGNADSWQREKLASM

Show »
Length:534
Mass (Da):59,904
Checksum:i4082E10475B57D50
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti195I → T in BAA91616 (PubMed:14702039).Curated1
Sequence conflicti254A → G in BAA91616 (PubMed:14702039).Curated1
Sequence conflicti443C → R in BAA91616 (PubMed:14702039).Curated1
Sequence conflicti478V → A in CAG33551 (Ref. 2) Curated1
Sequence conflicti500V → I in BAA91616 (PubMed:14702039).Curated1
Sequence conflicti500V → I in BAA91880 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_028046330D → N.Corresponds to variant rs11039302dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0420681M → MKGGNADSWQREKLASM in isoform 2. Curated1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK001312 mRNA. Translation: BAA91616.1.
AK001749 mRNA. Translation: BAA91880.1.
CR457270 mRNA. Translation: CAG33551.1.
AL713735 mRNA. Translation: CAD28521.1.
AC104942 Genomic DNA. No translation available.
CH471064 Genomic DNA. Translation: EAW67898.1.
CH471064 Genomic DNA. Translation: EAW67899.1.
CH471064 Genomic DNA. Translation: EAW67900.1.
CH471064 Genomic DNA. Translation: EAW67901.1.
CH471064 Genomic DNA. Translation: EAW67902.1.
BC002736 mRNA. Translation: AAH02736.1.
CCDSiCCDS44594.1. [Q9NVX7-2]
CCDS7940.1. [Q9NVX7-1]
RefSeqiNP_001305645.1. NM_001318716.1.
NP_001305646.1. NM_001318717.1.
NP_001305647.1. NM_001318718.1.
NP_001305648.1. NM_001318719.1.
NP_001305649.1. NM_001318720.1.
NP_001305650.1. NM_001318721.1. [Q9NVX7-1]
NP_001305651.1. NM_001318722.1. [Q9NVX7-1]
NP_001305652.1. NM_001318723.1. [Q9NVX7-1]
NP_001305653.1. NM_001318724.1. [Q9NVX7-1]
NP_001305654.1. NM_001318725.1. [Q9NVX7-1]
NP_057590.3. NM_016506.6. [Q9NVX7-1]
NP_060565.4. NM_018095.5. [Q9NVX7-2]
UniGeneiHs.718483.

Genome annotation databases

EnsembliENST00000395288; ENSP00000378703; ENSG00000123444. [Q9NVX7-1]
ENST00000430070; ENSP00000415106; ENSG00000123444. [Q9NVX7-2]
ENST00000526005; ENSP00000433340; ENSG00000123444. [Q9NVX7-1]
GeneIDi55709.
KEGGihsa:55709.
UCSCiuc001nfx.4. human. [Q9NVX7-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK001312 mRNA. Translation: BAA91616.1.
AK001749 mRNA. Translation: BAA91880.1.
CR457270 mRNA. Translation: CAG33551.1.
AL713735 mRNA. Translation: CAD28521.1.
AC104942 Genomic DNA. No translation available.
CH471064 Genomic DNA. Translation: EAW67898.1.
CH471064 Genomic DNA. Translation: EAW67899.1.
CH471064 Genomic DNA. Translation: EAW67900.1.
CH471064 Genomic DNA. Translation: EAW67901.1.
CH471064 Genomic DNA. Translation: EAW67902.1.
BC002736 mRNA. Translation: AAH02736.1.
CCDSiCCDS44594.1. [Q9NVX7-2]
CCDS7940.1. [Q9NVX7-1]
RefSeqiNP_001305645.1. NM_001318716.1.
NP_001305646.1. NM_001318717.1.
NP_001305647.1. NM_001318718.1.
NP_001305648.1. NM_001318719.1.
NP_001305649.1. NM_001318720.1.
NP_001305650.1. NM_001318721.1. [Q9NVX7-1]
NP_001305651.1. NM_001318722.1. [Q9NVX7-1]
NP_001305652.1. NM_001318723.1. [Q9NVX7-1]
NP_001305653.1. NM_001318724.1. [Q9NVX7-1]
NP_001305654.1. NM_001318725.1. [Q9NVX7-1]
NP_057590.3. NM_016506.6. [Q9NVX7-1]
NP_060565.4. NM_018095.5. [Q9NVX7-2]
UniGeneiHs.718483.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2EQXNMR-A142-239[»]
ProteinModelPortaliQ9NVX7.
SMRiQ9NVX7.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi120833. 17 interactors.
IntActiQ9NVX7. 2 interactors.
MINTiMINT-4717449.

PTM databases

iPTMnetiQ9NVX7.
PhosphoSitePlusiQ9NVX7.

Polymorphism and mutation databases

BioMutaiKBTBD4.
DMDMi116242601.

Proteomic databases

EPDiQ9NVX7.
MaxQBiQ9NVX7.
PaxDbiQ9NVX7.
PeptideAtlasiQ9NVX7.
PRIDEiQ9NVX7.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000395288; ENSP00000378703; ENSG00000123444. [Q9NVX7-1]
ENST00000430070; ENSP00000415106; ENSG00000123444. [Q9NVX7-2]
ENST00000526005; ENSP00000433340; ENSG00000123444. [Q9NVX7-1]
GeneIDi55709.
KEGGihsa:55709.
UCSCiuc001nfx.4. human. [Q9NVX7-1]

Organism-specific databases

CTDi55709.
GeneCardsiKBTBD4.
H-InvDBHIX0036358.
HGNCiHGNC:23761. KBTBD4.
HPAiHPA037792.
HPA037793.
neXtProtiNX_Q9NVX7.
OpenTargetsiENSG00000123444.
PharmGKBiPA134883813.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4441. Eukaryota.
ENOG410XNX8. LUCA.
GeneTreeiENSGT00390000000361.
HOGENOMiHOG000231393.
HOVERGENiHBG052213.
InParanoidiQ9NVX7.
KOiK10472.
PhylomeDBiQ9NVX7.
TreeFamiTF330249.

Miscellaneous databases

EvolutionaryTraceiQ9NVX7.
GenomeRNAii55709.
PROiQ9NVX7.

Gene expression databases

BgeeiENSG00000123444.
CleanExiHS_KBTBD4.
ExpressionAtlasiQ9NVX7. baseline and differential.
GenevisibleiQ9NVX7. HS.

Family and domain databases

Gene3Di2.120.10.80. 1 hit.
InterProiIPR011705. BACK.
IPR000210. BTB/POZ_dom.
IPR015915. Kelch-typ_b-propeller.
IPR011333. SKP1/BTB/POZ.
[Graphical view]
PfamiPF07707. BACK. 1 hit.
PF00651. BTB. 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...

Entry informationi

Entry nameiKBTB4_HUMAN
AccessioniPrimary (citable) accession number: Q9NVX7
Secondary accession number(s): D3DQS1
, D3DQS2, Q6IA85, Q9BUC3, Q9NV76
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 16, 2004
Last sequence update: October 17, 2006
Last modified: November 2, 2016
This is version 134 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 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. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  5. 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.