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Protein

Kelch repeat and BTB domain-containing protein 4

Gene

KBTBD4

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

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.

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA134883813.

Polymorphism and mutation databases

BioMutaiKBTBD4.
DMDMi116242601.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 518518Kelch repeat and BTB domain-containing protein 4PRO_0000119080Add
BLAST

Proteomic databases

EPDiQ9NVX7.
MaxQBiQ9NVX7.
PaxDbiQ9NVX7.
PeptideAtlasiQ9NVX7.
PRIDEiQ9NVX7.

PTM databases

iPTMnetiQ9NVX7.
PhosphoSiteiQ9NVX7.

Expressioni

Gene expression databases

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

Organism-specific databases

HPAiHPA037792.
HPA037793.

Interactioni

Protein-protein interaction databases

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

Structurei

Secondary structure

1
518
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Turni144 – 1463Combined sources
Helixi147 – 15610Combined sources
Helixi160 – 17213Combined sources
Helixi175 – 1784Combined sources
Helixi181 – 1855Combined sources
Helixi188 – 1969Combined sources
Helixi205 – 21410Combined sources
Helixi217 – 23014Combined sources
Beta strandi233 – 2364Combined sources

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
2EQXNMR-A142-239[»]
ProteinModelPortaliQ9NVX7.
SMRiQ9NVX7. Positions 26-481.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ9NVX7.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini45 – 11268BTBPROSITE-ProRule annotationAdd
BLAST
Domaini147 – 23993BACKAdd
BLAST
Repeati239 – 28547Kelch 1Add
BLAST
Repeati286 – 32843Kelch 2Add
BLAST
Repeati331 – 37848Kelch 3Add
BLAST
Repeati380 – 43051Kelch 4Add
BLAST
Repeati432 – 48150Kelch 5Add
BLAST

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.
GeneTreeiENSGT00840000129689.
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)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti195 – 1951I → T in BAA91616 (PubMed:14702039).Curated
Sequence conflicti254 – 2541A → G in BAA91616 (PubMed:14702039).Curated
Sequence conflicti443 – 4431C → R in BAA91616 (PubMed:14702039).Curated
Sequence conflicti478 – 4781V → A in CAG33551 (Ref. 2) Curated
Sequence conflicti500 – 5001V → I in BAA91616 (PubMed:14702039).Curated
Sequence conflicti500 – 5001V → I in BAA91880 (PubMed:14702039).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti330 – 3301D → N.
Corresponds to variant rs11039302 [ dbSNP | Ensembl ].
VAR_028046

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 11M → MKGGNADSWQREKLASM in isoform 2. CuratedVSP_042068

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
EntryMethodResolution (Å)ChainPositionsPDBsum
2EQXNMR-A142-239[»]
ProteinModelPortaliQ9NVX7.
SMRiQ9NVX7. Positions 26-481.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

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

PTM databases

iPTMnetiQ9NVX7.
PhosphoSiteiQ9NVX7.

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.
PharmGKBiPA134883813.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4441. Eukaryota.
ENOG410XNX8. LUCA.
GeneTreeiENSGT00840000129689.
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: September 7, 2016
This is version 132 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.