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Protein

BTB/POZ domain-containing adapter for CUL3-mediated RhoA degradation protein 1

Gene

KCTD13

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-protein ligase complex required for synaptic transmission (PubMed:19782033). The BCR(KCTD13) E3 ubiquitin ligase complex mediates the ubiquitination of RHOA, leading to its degradation by the proteasome (PubMed:19782033) Degradation of RHOA regulates the actin cytoskeleton and promotes synaptic transmission (By similarity).By similarity1 Publication

Caution

Baed on animal models in mouse and zebrafish, it was suggested that KCTD13 is the major factor inducing the macrocephaly phenotype associated with the 16p11.2 deletion (PubMed:22596160). However, a subsequent report showed that KCTD13 does not play a role in brain size.1 Publication

Pathwayi: protein ubiquitination

This protein is involved in the pathway protein ubiquitination, which is part of Protein modification.1 Publication
View all proteins of this organism that are known to be involved in the pathway protein ubiquitination and in Protein modification.

GO - Molecular functioni

  • GTP-Rho binding Source: UniProtKB
  • identical protein binding Source: IntAct
  • protein domain specific binding Source: Ensembl

GO - Biological processi

  • cell migration Source: UniProtKB
  • DNA replication Source: UniProtKB
  • negative regulation of Rho protein signal transduction Source: UniProtKB
  • positive regulation of DNA replication Source: Ensembl
  • positive regulation of synaptic transmission Source: UniProtKB
  • proteasome-mediated ubiquitin-dependent protein catabolic process Source: UniProtKB
  • protein homooligomerization Source: InterPro
  • protein ubiquitination Source: UniProtKB
  • stress fiber assembly Source: UniProtKB

Keywordsi

Biological processUbl conjugation pathway

Enzyme and pathway databases

UniPathwayiUPA00143

Names & Taxonomyi

Protein namesi
Recommended name:
BTB/POZ domain-containing adapter for CUL3-mediated RhoA degradation protein 11 Publication
Short name:
hBACURD11 Publication
Alternative name(s):
BTB/POZ domain-containing protein KCTD13Curated
Polymerase delta-interacting protein 11 Publication
TNFAIP1-like protein
Gene namesi
Name:KCTD13
Synonyms:BACURD11 Publication, PDIP11 Publication, POLDIP1
ORF Names:FKSG86, PP6832
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 16

Organism-specific databases

EuPathDBiHostDB:ENSG00000174943.9
HGNCiHGNC:22234 KCTD13
MIMi608947 gene
neXtProtiNX_Q8WZ19

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

Nucleus

Pathology & Biotechi

Involvement in diseasei

The gene represented in this entry may act as a disease modifier for autism and schizophrenia associated with recurrent deletions and duplications of chromosome 16p11.2 region (PubMed:22596160, PubMed:25695269).2 Publications

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi84 – 86VLI → AAA: Abolishes interaction with CUL3 and induces abnormal actin stress fibers. 1 Publication3

Keywords - Diseasei

Autism, Autism spectrum disorder, Disease mutation, Schizophrenia

Organism-specific databases

DisGeNETi253980
OpenTargetsiENSG00000174943
PharmGKBiPA134907908

Polymorphism and mutation databases

BioMutaiKCTD13
DMDMi51701604

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001912971 – 329BTB/POZ domain-containing adapter for CUL3-mediated RhoA degradation protein 1Add BLAST329

Proteomic databases

EPDiQ8WZ19
MaxQBiQ8WZ19
PaxDbiQ8WZ19
PeptideAtlasiQ8WZ19
PRIDEiQ8WZ19
ProteomicsDBi75205

PTM databases

iPTMnetiQ8WZ19
PhosphoSitePlusiQ8WZ19

Expressioni

Tissue specificityi

Expressed in a wide variety of tissues.1 Publication

Inductioni

By TNF and IL6/interleukin-6.1 Publication

Gene expression databases

BgeeiENSG00000174943
CleanExiHS_KCTD13
ExpressionAtlasiQ8WZ19 baseline and differential
GenevisibleiQ8WZ19 HS

Organism-specific databases

HPAiHPA043524

Interactioni

Subunit structurei

Homotetramer; forms a two-fold symmetric tetramer in solution (PubMed:28963344). Interacts with CUL3; interaction is direct and forms a 5:5 heterodecamer (PubMed:28963344). Component of the BCR(KCTD13) E3 ubiquitin ligase complex, at least composed of CUL3, KCTD13/BACURD1 and RBX1. Interacts with RHOA; with a preference for RhoA-GDP (PubMed:19782033). Interacts with POLD2 and PCNA (PubMed:11593007). Interacts with SPRTN (PubMed:22902628).4 Publications

Binary interactionsi

Show more details

GO - Molecular functioni

  • GTP-Rho binding Source: UniProtKB
  • identical protein binding Source: IntAct
  • protein domain specific binding Source: Ensembl

Protein-protein interaction databases

BioGridi129001, 31 interactors
IntActiQ8WZ19, 20 interactors
MINTiQ8WZ19
STRINGi9606.ENSP00000311202

Structurei

Secondary structure

1329
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi42 – 47Combined sources6
Beta strandi50 – 55Combined sources6
Helixi56 – 59Combined sources4
Beta strandi61 – 64Combined sources4
Helixi65 – 69Combined sources5
Turni70 – 72Combined sources3
Beta strandi84 – 86Combined sources3
Turni90 – 92Combined sources3
Helixi93 – 102Combined sources10
Helixi111 – 123Combined sources13
Helixi127 – 140Combined sources14

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4UIJX-ray2.70A/B/C/D27-144[»]
ProteinModelPortaliQ8WZ19
SMRiQ8WZ19
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini41 – 109BTBPROSITE-ProRule annotationAdd BLAST69

Sequence similaritiesi

Belongs to the BACURD family.Curated

Phylogenomic databases

eggNOGiKOG2716 Eukaryota
ENOG410XQYZ LUCA
GeneTreeiENSGT00920000149007
HOGENOMiHOG000294088
HOVERGENiHBG052219
InParanoidiQ8WZ19
KOiK15074
OMAiHIMHDER
OrthoDBiEOG091G0L1Y
PhylomeDBiQ8WZ19
TreeFamiTF315649

Family and domain databases

InterProiView protein in InterPro
IPR000210 BTB/POZ_dom
IPR011333 SKP1/BTB/POZ_sf
IPR003131 T1-type_BTB
PfamiView protein in Pfam
PF02214 BTB_2, 1 hit
SMARTiView protein in SMART
SM00225 BTB, 1 hit
SUPFAMiSSF54695 SSF54695, 1 hit
PROSITEiView protein in PROSITE
PS50097 BTB, 1 hit

Sequencei

Sequence statusi: Complete.

Q8WZ19-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MSAEASGPAA AAAPSLEAPK PSGLEPGPAA YGLKPLTPNS KYVKLNVGGS
60 70 80 90 100
LHYTTLRTLT GQDTMLKAMF SGRVEVLTDA GGWVLIDRSG RHFGTILNYL
110 120 130 140 150
RDGSVPLPES TRELGELLGE ARYYLVQGLI EDCQLALQQK RETLSPLCLI
160 170 180 190 200
PMVTSPREEQ QLLASTSKPV VKLLHNRSNN KYSYTSTSDD NLLKNIELFD
210 220 230 240 250
KLALRFHGRL LFLKDVLGDE ICCWSFYGQG RKIAEVCCTS IVYATEKKQT
260 270 280 290 300
KVEFPEARIF EETLNILIYE TPRGPDPALL EATGGAAGAG GAGRGEDEEN
310 320
REHRVRRIHV RRHITHDERP HGQQIVFKD
Length:329
Mass (Da):36,357
Last modified:March 1, 2002 - v1
Checksum:i17A8AC2DBE81EE78
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti251K → N in AAK27301 (Ref. 3) Curated1
Sequence conflicti328K → R in AAK27301 (Ref. 3) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_080045200D → N Found in a patient with schizophrenia; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs774536350Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF401315 mRNA Translation: AAL14962.2
AY027918 mRNA Translation: AAK27301.1
AF289573 mRNA Translation: AAL55757.1
AK289630 mRNA Translation: BAF82319.1
AC120114 Genomic DNA No translation available.
CH471238 Genomic DNA Translation: EAW79969.1
BC036228 mRNA Translation: AAH36228.1
CCDSiCCDS10661.1
RefSeqiNP_849194.1, NM_178863.4
UniGeneiHs.534590
Hs.657408

Genome annotation databases

EnsembliENST00000308768; ENSP00000311202; ENSG00000174943
ENST00000568000; ENSP00000455785; ENSG00000174943
GeneIDi253980
KEGGihsa:253980
UCSCiuc002duv.5 human

Similar proteinsi

Entry informationi

Entry nameiBACD1_HUMAN
AccessioniPrimary (citable) accession number: Q8WZ19
Secondary accession number(s): A8K0R5, Q96P93, Q96SA1
Entry historyiIntegrated into UniProtKB/Swiss-Prot: August 31, 2004
Last sequence update: March 1, 2002
Last modified: June 20, 2018
This is version 143 of the entry and version 1 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 chromosome 16
    Human chromosome 16: 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. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  6. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  7. SIMILARITY comments
    Index of protein domains and families

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