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Protein

Kelch repeat and BTB domain-containing protein 8

Gene

KBTBD8

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

Functioni

Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin ligase complex that acts as a regulator of neural crest specification (PubMed:26399832). The BCR(KBTBD8) complex acts by mediating monoubiquitination of NOLC1 and TCOF1: monoubiquitination promotes the formation of a NOLC1-TCOF1 complex that acts as a platform to connect RNA polymerase I with enzymes responsible for ribosomal processing and modification, leading to remodel the translational program of differentiating cells in favor of neural crest specification (PubMed:26399832).1 Publication

GO - Biological processi

  • neural crest cell development Source: UniProtKB
  • neural crest formation Source: UniProtKB
  • post-translational protein modification Source: Reactome
  • protein monoubiquitination Source: UniProtKB
  • regulation of translation Source: UniProtKB-KW

Keywordsi

Biological processTranslation regulation, Ubl conjugation pathway

Enzyme and pathway databases

ReactomeiR-HSA-8951664 Neddylation
R-HSA-983168 Antigen processing: Ubiquitination & Proteasome degradation

Names & Taxonomyi

Protein namesi
Recommended name:
Kelch repeat and BTB domain-containing protein 8
Alternative name(s):
T-cell activation kelch repeat protein
Short name:
TA-KRP
Gene namesi
Name:KBTBD8
Synonyms:KIAA1842, TAKRP
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 3

Organism-specific databases

EuPathDBiHostDB:ENSG00000163376.11
HGNCiHGNC:30691 KBTBD8
MIMi616607 gene
neXtProtiNX_Q8NFY9

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Cytoskeleton, Golgi apparatus

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi74Y → A: Abolishes CUL3-binding and ability to mediate monoubiquitination of NOLC1 and TCOF1. 1 Publication1
Mutagenesisi579W → A: Abolishes substrate-binding and ability to mediate monoubiquitination of NOLC1 and TCOF1. 1 Publication1

Organism-specific databases

DisGeNETi84541
OpenTargetsiENSG00000163376
PharmGKBiPA142671641

Polymorphism and mutation databases

BioMutaiKBTBD8
DMDMi126215728

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002782201 – 601Kelch repeat and BTB domain-containing protein 8Add BLAST601

Proteomic databases

EPDiQ8NFY9
MaxQBiQ8NFY9
PaxDbiQ8NFY9
PeptideAtlasiQ8NFY9
PRIDEiQ8NFY9
ProteomicsDBi73392

PTM databases

iPTMnetiQ8NFY9
PhosphoSitePlusiQ8NFY9

Expressioni

Developmental stagei

Down-regulated in differentiating embryonic stem cells (ESCs) (at protein level).1 Publication

Gene expression databases

BgeeiENSG00000163376 Expressed in 172 organ(s), highest expression level in secondary oocyte
CleanExiHS_KBTBD8
ExpressionAtlasiQ8NFY9 baseline and differential
GenevisibleiQ8NFY9 HS

Organism-specific databases

HPAiHPA041285
HPA069190

Interactioni

Subunit structurei

Component of the BCR(KBTBD8) E3 ubiquitin ligase complex, at least composed of CUL3, KBTBD8 and RBX1 (PubMed:26399832).1 Publication

Protein-protein interaction databases

BioGridi124128, 11 interactors
STRINGi9606.ENSP00000401878

Structurei

3D structure databases

ProteinModelPortaliQ8NFY9
SMRiQ8NFY9
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini49 – 117BTBPROSITE-ProRule annotationAdd BLAST69
Domaini153 – 252BACKSequence analysisAdd BLAST100
Repeati336 – 390Kelch 1Sequence analysisAdd BLAST55
Repeati391 – 441Kelch 2Sequence analysisAdd BLAST51
Repeati443 – 481Kelch 3Sequence analysisAdd BLAST39
Repeati483 – 532Kelch 4Sequence analysisAdd BLAST50
Repeati542 – 588Kelch 5Sequence analysisAdd BLAST47

Sequence similaritiesi

Belongs to the KBTBD8 family.Curated

Keywords - Domaini

Kelch repeat, Repeat

Phylogenomic databases

eggNOGiKOG4441 Eukaryota
ENOG410XNX8 LUCA
GeneTreeiENSGT00930000150851
HOGENOMiHOG000070103
HOVERGENiHBG100857
InParanoidiQ8NFY9
KOiK10475
OMAiYESIVRW
OrthoDBiEOG091G035Y
PhylomeDBiQ8NFY9
TreeFamiTF332672

Family and domain databases

Gene3Di2.120.10.80, 1 hit
InterProiView protein in InterPro
IPR011705 BACK
IPR017096 BTB-kelch_protein
IPR000210 BTB/POZ_dom
IPR028764 KBTBD8
IPR015915 Kelch-typ_b-propeller
IPR006652 Kelch_1
IPR011333 SKP1/BTB/POZ_sf
PANTHERiPTHR24412:SF388 PTHR24412:SF388, 1 hit
PfamiView protein in Pfam
PF07707 BACK, 1 hit
PF00651 BTB, 1 hit
PF01344 Kelch_1, 3 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

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 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q8NFY9-1) [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
MAASADLSKS SPTPNGIPSS DPASDAMDPF HACSILKQLK TMYDEGQLTD
60 70 80 90 100
IVVEVDHGKT FSCHRNVLAA ISPYFRSMFT SGLTESTQKE VRIVGVEAES
110 120 130 140 150
MDLVLNYAYT SRVILTEANV QALFTAASIF QIPSIQDQCA KYMISHLDPQ
160 170 180 190 200
NSIGVFIFAD HYGHQELGDR SKEYIRKKFL CVTKEQEFLQ LTKDQLISIL
210 220 230 240 250
DSDDLNVDRE EHVYESIIRW FEHEQNEREV HLPEIFAKCI RFPLMEDTFI
260 270 280 290 300
EKIPPQFAQA IAKSCVEKGP SNTNGCTQRL GMTASEMIIC FDAAHKHSGK
310 320 330 340 350
KQTVPCLDIV TGRVFKLCKP PNDLREVGIL VSPDNDIYIA GGYRPSSSEV
360 370 380 390 400
SIDHKAENDF WMYDHSTNRW LSKPSLLRAR IGCKLVYCCG KMYAIGGRVY
410 420 430 440 450
EGDGRNSLKS VECYDSRENC WTTVCAMPVA MEFHNAVEYK EKIYVLQGEF
460 470 480 490 500
FLFYEPQKDY WGFLTPMTVP RIQGLAAVYK DSIYYIAGTC GNHQRMFTVE
510 520 530 540 550
AYDIELNKWT RKKDFPCDQS INPYLKLVLF QNKLHLFVRA TQVTVEEHVF
560 570 580 590 600
RTSRKNSLYQ YDDIADQWMK VYETPDRLWD LGRHFECAVA KLYPQCLQKV

L
Length:601
Mass (Da):68,823
Last modified:February 20, 2007 - v2
Checksum:iE5DC921FD9C10BBA
GO
Isoform 2 (identifier: Q8NFY9-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     6-447: Missing.

Note: No experimental confirmation available.
Show »
Length:159
Mass (Da):18,827
Checksum:i951CFB969FFDE36E
GO

Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
C9J331C9J331_HUMAN
Kelch repeat and BTB domain-contain...
KBTBD8
166Annotation score:
C9JAA6C9JAA6_HUMAN
Kelch repeat and BTB domain-contain...
KBTBD8
146Annotation score:

Sequence cautioni

The sequence AAI17488 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence AAM43839 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_036082198S → C in a breast cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_036083405R → K in a breast cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_030694420C → R. Corresponds to variant dbSNP:rs13096789Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0561076 – 447Missing in isoform 2. 1 PublicationAdd BLAST442

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK096640 mRNA No translation available.
AK300397 mRNA Translation: BAG62128.1
AC020655 Genomic DNA No translation available.
AF385438 mRNA Translation: AAM43839.1 Different initiation.
BC117487 mRNA Translation: AAI17488.1 Different initiation.
AB058745 mRNA Translation: BAB47471.1
CCDSiCCDS2906.2 [Q8NFY9-1]
RefSeqiNP_115894.2, NM_032505.2 [Q8NFY9-1]
UniGeneiHs.116665

Genome annotation databases

EnsembliENST00000417314; ENSP00000401878; ENSG00000163376 [Q8NFY9-1]
ENST00000460576; ENSP00000419738; ENSG00000163376 [Q8NFY9-2]
GeneIDi84541
KEGGihsa:84541
UCSCiuc003dmy.4 human [Q8NFY9-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK096640 mRNA No translation available.
AK300397 mRNA Translation: BAG62128.1
AC020655 Genomic DNA No translation available.
AF385438 mRNA Translation: AAM43839.1 Different initiation.
BC117487 mRNA Translation: AAI17488.1 Different initiation.
AB058745 mRNA Translation: BAB47471.1
CCDSiCCDS2906.2 [Q8NFY9-1]
RefSeqiNP_115894.2, NM_032505.2 [Q8NFY9-1]
UniGeneiHs.116665

3D structure databases

ProteinModelPortaliQ8NFY9
SMRiQ8NFY9
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi124128, 11 interactors
STRINGi9606.ENSP00000401878

PTM databases

iPTMnetiQ8NFY9
PhosphoSitePlusiQ8NFY9

Polymorphism and mutation databases

BioMutaiKBTBD8
DMDMi126215728

Proteomic databases

EPDiQ8NFY9
MaxQBiQ8NFY9
PaxDbiQ8NFY9
PeptideAtlasiQ8NFY9
PRIDEiQ8NFY9
ProteomicsDBi73392

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000417314; ENSP00000401878; ENSG00000163376 [Q8NFY9-1]
ENST00000460576; ENSP00000419738; ENSG00000163376 [Q8NFY9-2]
GeneIDi84541
KEGGihsa:84541
UCSCiuc003dmy.4 human [Q8NFY9-1]

Organism-specific databases

CTDi84541
DisGeNETi84541
EuPathDBiHostDB:ENSG00000163376.11
GeneCardsiKBTBD8
HGNCiHGNC:30691 KBTBD8
HPAiHPA041285
HPA069190
MIMi616607 gene
neXtProtiNX_Q8NFY9
OpenTargetsiENSG00000163376
PharmGKBiPA142671641
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4441 Eukaryota
ENOG410XNX8 LUCA
GeneTreeiENSGT00930000150851
HOGENOMiHOG000070103
HOVERGENiHBG100857
InParanoidiQ8NFY9
KOiK10475
OMAiYESIVRW
OrthoDBiEOG091G035Y
PhylomeDBiQ8NFY9
TreeFamiTF332672

Enzyme and pathway databases

ReactomeiR-HSA-8951664 Neddylation
R-HSA-983168 Antigen processing: Ubiquitination & Proteasome degradation

Miscellaneous databases

ChiTaRSiKBTBD8 human
GenomeRNAii84541
PROiPR:Q8NFY9
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000163376 Expressed in 172 organ(s), highest expression level in secondary oocyte
CleanExiHS_KBTBD8
ExpressionAtlasiQ8NFY9 baseline and differential
GenevisibleiQ8NFY9 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
IPR028764 KBTBD8
IPR015915 Kelch-typ_b-propeller
IPR006652 Kelch_1
IPR011333 SKP1/BTB/POZ_sf
PANTHERiPTHR24412:SF388 PTHR24412:SF388, 1 hit
PfamiView protein in Pfam
PF07707 BACK, 1 hit
PF00651 BTB, 1 hit
PF01344 Kelch_1, 3 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 nameiKBTB8_HUMAN
AccessioniPrimary (citable) accession number: Q8NFY9
Secondary accession number(s): B4DTW6, Q96JI5
Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 20, 2007
Last sequence update: February 20, 2007
Last modified: November 7, 2018
This is version 123 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. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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