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Protein

Kelch repeat and BTB domain-containing protein 4

Gene

KBTBD4

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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

EuPathDBiHostDB:ENSG00000123444.13
HGNCiHGNC:23761 KBTBD4
MIMi617645 gene
neXtProtiNX_Q9NVX7

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
ProteomicsDBi82878
82879 [Q9NVX7-2]

PTM databases

iPTMnetiQ9NVX7
PhosphoSitePlusiQ9NVX7

Expressioni

Gene expression databases

BgeeiENSG00000123444 Expressed in 221 organ(s), highest expression level in muscle of leg
CleanExiHS_KBTBD4
ExpressionAtlasiQ9NVX7 baseline and differential
GenevisibleiQ9NVX7 HS

Organism-specific databases

HPAiHPA037792
HPA037793

Interactioni

Protein-protein interaction databases

BioGridi120833, 17 interactors
IntActiQ9NVX7, 2 interactors
STRINGi9606.ENSP00000415106

Structurei

Secondary structure

1518
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

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

Keywords - Domaini

Kelch repeat, Repeat

Phylogenomic databases

eggNOGiKOG4441 Eukaryota
ENOG410XNX8 LUCA
GeneTreeiENSGT00930000150851
HOGENOMiHOG000231393
HOVERGENiHBG052213
InParanoidiQ9NVX7
KOiK10472
PhylomeDBiQ9NVX7
TreeFamiTF330249

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
IPR011333 SKP1/BTB/POZ_sf
PfamiView protein in Pfam
PF07707 BACK, 1 hit
PF00651 BTB, 1 hit
PIRSFiPIRSF037037 Kelch-like_protein_gigaxonin, 1 hit
SMARTiView protein in SMART
SM00875 BACK, 1 hit
SM00225 BTB, 1 hit
SUPFAMiSSF117281 SSF117281, 1 hit
SSF54695 SSF54695, 1 hit
PROSITEiView protein in PROSITE
PS50097 BTB, 1 hit

Sequences (2+)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 7 potential isoforms that are computationally mapped.Show allAlign All

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

Computationally mapped potential isoform sequencesi

There are 7 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A075B6T4A0A075B6T4_HUMAN
Kelch repeat and BTB domain-contain...
KBTBD4
543Annotation score:
E9PL18E9PL18_HUMAN
Kelch repeat and BTB domain-contain...
KBTBD4
198Annotation score:
E9PQ38E9PQ38_HUMAN
Kelch repeat and BTB domain-contain...
KBTBD4
286Annotation score:
E9PJ66E9PJ66_HUMAN
Kelch repeat and BTB domain-contain...
KBTBD4
159Annotation score:
E9PJY1E9PJY1_HUMAN
Kelch repeat and BTB domain-contain...
KBTBD4
161Annotation score:
E9PM58E9PM58_HUMAN
Kelch repeat and BTB domain-contain...
KBTBD4
173Annotation score:
E9PSA4E9PSA4_HUMAN
Kelch repeat and BTB domain-contain...
KBTBD4
31Annotation score:

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 dbSNP:rs11039302Ensembl.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]
ENST00000645388; ENSP00000495796; ENSG00000284900 [Q9NVX7-1]
ENST00000646317; ENSP00000495324; ENSG00000284900 [Q9NVX7-1]
ENST00000647201; ENSP00000495892; ENSG00000284900 [Q9NVX7-2]
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
STRINGi9606.ENSP00000415106

PTM databases

iPTMnetiQ9NVX7
PhosphoSitePlusiQ9NVX7

Polymorphism and mutation databases

BioMutaiKBTBD4
DMDMi116242601

Proteomic databases

EPDiQ9NVX7
MaxQBiQ9NVX7
PaxDbiQ9NVX7
PeptideAtlasiQ9NVX7
PRIDEiQ9NVX7
ProteomicsDBi82878
82879 [Q9NVX7-2]

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]
ENST00000645388; ENSP00000495796; ENSG00000284900 [Q9NVX7-1]
ENST00000646317; ENSP00000495324; ENSG00000284900 [Q9NVX7-1]
ENST00000647201; ENSP00000495892; ENSG00000284900 [Q9NVX7-2]
GeneIDi55709
KEGGihsa:55709
UCSCiuc001nfx.4 human [Q9NVX7-1]

Organism-specific databases

CTDi55709
EuPathDBiHostDB:ENSG00000123444.13
GeneCardsiKBTBD4
H-InvDBiHIX0036358
HGNCiHGNC:23761 KBTBD4
HPAiHPA037792
HPA037793
MIMi617645 gene
neXtProtiNX_Q9NVX7
OpenTargetsiENSG00000123444
PharmGKBiPA134883813
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4441 Eukaryota
ENOG410XNX8 LUCA
GeneTreeiENSGT00930000150851
HOGENOMiHOG000231393
HOVERGENiHBG052213
InParanoidiQ9NVX7
KOiK10472
PhylomeDBiQ9NVX7
TreeFamiTF330249

Miscellaneous databases

EvolutionaryTraceiQ9NVX7
GenomeRNAii55709
PROiPR:Q9NVX7
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000123444 Expressed in 221 organ(s), highest expression level in muscle of leg
CleanExiHS_KBTBD4
ExpressionAtlasiQ9NVX7 baseline and differential
GenevisibleiQ9NVX7 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
IPR011333 SKP1/BTB/POZ_sf
PfamiView protein in Pfam
PF07707 BACK, 1 hit
PF00651 BTB, 1 hit
PIRSFiPIRSF037037 Kelch-like_protein_gigaxonin, 1 hit
SMARTiView protein in SMART
SM00875 BACK, 1 hit
SM00225 BTB, 1 hit
SUPFAMiSSF117281 SSF117281, 1 hit
SSF54695 SSF54695, 1 hit
PROSITEiView protein in PROSITE
PS50097 BTB, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiKBTB4_HUMAN
AccessioniPrimary (citable) accession number: Q9NVX7
Secondary accession number(s): D3DQS1
, D3DQS2, Q6IA85, Q9BUC3, Q9NV76
Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 16, 2004
Last sequence update: October 17, 2006
Last modified: November 7, 2018
This is version 148 of the entry and version 3 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

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  5. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
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Main funding by: National Institutes of Health

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