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Aliases for KCTD13 Gene

Aliases for KCTD13 Gene

  • Potassium Channel Tetramerization Domain Containing 13 2 3 5
  • Polymerase Delta-Interacting Protein 1 2 3 4
  • Potassium Channel Tetramerisation Domain Containing 13 2 3
  • BTB/POZ Domain-Containing Protein KCTD13 3 4
  • TNFAIP1-Like Protein 3 4
  • HBACURD1 3 4
  • BACURD1 3 4
  • POLDIP1 3 4
  • PDIP1 3 4
  • BTB/POZ Domain-Containing Adapter For CUL3-Mediated RhoA Degradation Protein 1 3
  • CTD-2574D22.4 3
  • TNFAIP1-Like 2
  • FKSG86 3

External Ids for KCTD13 Gene

Previous GeneCards Identifiers for KCTD13 Gene

  • GC16M029955
  • GC16M029948
  • GC16M029826
  • GC16M029917
  • GC16M027578
  • GC16M029918
  • GC16M029922

Summaries for KCTD13 Gene

GeneCards Summary for KCTD13 Gene

KCTD13 (Potassium Channel Tetramerization Domain Containing 13) is a Protein Coding gene. Diseases associated with KCTD13 include Osteoarthritis and Hepatocellular Carcinoma. Among its related pathways are Hepatic ABC Transporters and Activation of cAMP-Dependent PKA. Gene Ontology (GO) annotations related to this gene include identical protein binding and protein domain specific binding. An important paralog of this gene is KCTD10.

UniProtKB/Swiss-Prot for KCTD13 Gene

  • 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).

Gene Wiki entry for KCTD13 Gene

Additional gene information for KCTD13 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KCTD13 Gene

Genomics for KCTD13 Gene

GeneHancer (GH) Regulatory Elements for KCTD13 Gene

Promoters and enhancers for KCTD13 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH16J029925 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 650.7 +0.6 553 2.8 HDGF ZFP64 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B SLC30A9 POLR2B ZNF213 ENSG00000247735 KCTD13 PIR34172 INO80E SRCAP NPIPB12 ZNF764 NPIPB13 ENSG00000260853 PRR14
GH16J028950 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 4.9 +975.7 975715 2.4 HDGF PKNOX1 ARID4B SIN3A ZNF2 ZBTB7B YY1 POLR2B E2F8 ZNF143 NFATC2IP SGF29 ATXN2L ENSG00000260853 SMG1P2 SPNS1 ENSG00000260367 EIF3C SULT1A2 NPIPB8
GH16J028973 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 4.4 +952.3 952313 2.4 CLOCK MLX FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 ZNF416 ZNF143 SPNS1 ENSG00000261067 ENSG00000261766 ATXN2L NPIPB12 NFATC2IP ENSG00000260853 CDIPT SULT1A2 ENSG00000247735
GH16J028930 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE dbSUPER 5.2 +995.3 995256 3.5 PKNOX1 SMAD1 RB1 YBX1 BMI1 ZNF48 ZNF143 ATF7 BCLAF1 IKZF2 CD19 TUFM SULT1A2 CDC37P1 KCTD13 EIF3C SMG1P2 GC16P028929 RABEP2
GH16J028983 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE 4.4 +939.6 939556 7.2 ZNF280D INSM2 DPF2 ZNF217 IKZF1 ZFP91 ZNF580 ZNF24 ZNF558 LAT TUFM SULT1A2 CDC37P1 KCTD13 ENSG00000261552 SPNS1 ENSG00000261067
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around KCTD13 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the KCTD13 gene promoter:
  • Sp1
  • AP-2alpha
  • AP-2alpha isoform 2
  • AP-2alpha isoform 3
  • AP-2alpha isoform 4
  • AP-2alphaA
  • HOXA5
  • GCNF

Genomic Locations for KCTD13 Gene

Genomic Locations for KCTD13 Gene
chr16:29,905,012-29,927,035
(GRCh38/hg38)
Size:
22,024 bases
Orientation:
Minus strand
chr16:29,916,333-29,938,356
(GRCh37/hg19)
Size:
22,024 bases
Orientation:
Minus strand

Genomic View for KCTD13 Gene

Genes around KCTD13 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KCTD13 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KCTD13 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KCTD13 Gene

Proteins for KCTD13 Gene

  • Protein details for KCTD13 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8WZ19-BACD1_HUMAN
    Recommended name:
    BTB/POZ domain-containing adapter for CUL3-mediated RhoA degradation protein 1
    Protein Accession:
    Q8WZ19
    Secondary Accessions:
    • A8K0R5
    • Q96P93
    • Q96SA1

    Protein attributes for KCTD13 Gene

    Size:
    329 amino acids
    Molecular mass:
    36357 Da
    Quaternary structure:
    • 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).

    Three dimensional structures from OCA and Proteopedia for KCTD13 Gene

neXtProt entry for KCTD13 Gene

Post-translational modifications for KCTD13 Gene

  • Ubiquitination at isoforms=201, isoforms=140, and Lys34
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for KCTD13 Gene

Domains & Families for KCTD13 Gene

Gene Families for KCTD13 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for KCTD13 Gene

Suggested Antigen Peptide Sequences for KCTD13 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8WZ19

UniProtKB/Swiss-Prot:

BACD1_HUMAN :
  • Belongs to the BACURD family.
Family:
  • Belongs to the BACURD family.
genes like me logo Genes that share domains with KCTD13: view

Function for KCTD13 Gene

Molecular function for KCTD13 Gene

UniProtKB/Swiss-Prot Function:
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).
UniProtKB/Swiss-Prot Induction:
By TNF and IL6/interleukin-6.

Phenotypes From GWAS Catalog for KCTD13 Gene

Gene Ontology (GO) - Molecular Function for KCTD13 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004842 contributes_to ubiquitin-protein transferase activity IDA 19782033
GO:0005515 protein binding IEA,IPI 16189514
GO:0017049 GTP-Rho binding IDA 19782033
GO:0019904 protein domain specific binding IEA --
GO:0042802 identical protein binding IEA,IPI 25416956
genes like me logo Genes that share ontologies with KCTD13: view
genes like me logo Genes that share phenotypes with KCTD13: view

Animal Models for KCTD13 Gene

MGI Knock Outs for KCTD13:
  • Kctd13 Kctd13<tm1.1(KOMP)Vlcg>

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for KCTD13 Gene

Localization for KCTD13 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KCTD13 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for KCTD13 gene
Compartment Confidence
nucleus 5
cytosol 2
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear bodies (3)
  • Nucleus (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for KCTD13 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA --
GO:0016604 nuclear body IDA --
GO:0031463 Cul3-RING ubiquitin ligase complex IDA 19782033
genes like me logo Genes that share ontologies with KCTD13: view

Pathways & Interactions for KCTD13 Gene

genes like me logo Genes that share pathways with KCTD13: view

UniProtKB/Swiss-Prot Q8WZ19-BACD1_HUMAN

  • Pathway: Protein modification; protein ubiquitination.

Gene Ontology (GO) - Biological Process for KCTD13 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006260 DNA replication ISS,IEA 15726626
GO:0016477 cell migration IMP 19782033
GO:0016567 protein ubiquitination IEA --
GO:0035024 negative regulation of Rho protein signal transduction IEA,ISS --
GO:0043149 stress fiber assembly IMP 19782033
genes like me logo Genes that share ontologies with KCTD13: view

No data available for SIGNOR curated interactions for KCTD13 Gene

Drugs & Compounds for KCTD13 Gene

No Compound Related Data Available

Transcripts for KCTD13 Gene

Unigene Clusters for KCTD13 Gene

Potassium channel tetramerisation domain containing 13:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for KCTD13 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3a · 3b · 3c ^ 4 ^ 5 ^ 6 ^ 7
SP1: - - -
SP2:
SP3: - -
SP4: -

Relevant External Links for KCTD13 Gene

GeneLoc Exon Structure for
KCTD13
ECgene alternative splicing isoforms for
KCTD13

Expression for KCTD13 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for KCTD13 Gene

Protein differential expression in normal tissues from HIPED for KCTD13 Gene

This gene is overexpressed in Testis (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for KCTD13 Gene



Protein tissue co-expression partners for KCTD13 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of KCTD13 Gene:

KCTD13

SOURCE GeneReport for Unigene cluster for KCTD13 Gene:

Hs.534590

mRNA Expression by UniProt/SwissProt for KCTD13 Gene:

Q8WZ19-BACD1_HUMAN
Tissue specificity: Expressed in a wide variety of tissues.

Evidence on tissue expression from TISSUES for KCTD13 Gene

  • Nervous system(4.4)
genes like me logo Genes that share expression patterns with KCTD13: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for KCTD13 Gene

Orthologs for KCTD13 Gene

This gene was present in the common ancestor of animals.

Orthologs for KCTD13 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KCTD13 34 33
  • 99.59 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia KCTD13 34
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia KCTD13 34 33
  • 93.31 (n)
OneToOne
cow
(Bos Taurus)
Mammalia KCTD13 34 33
  • 92.81 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Kctd13 33
  • 90.18 (n)
mouse
(Mus musculus)
Mammalia Kctd13 16 34 33
  • 89.54 (n)
lizard
(Anolis carolinensis)
Reptilia KCTD13 34
  • 77 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii kctd13 34 33
  • 66.21 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG10465 34
  • 56 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea ZC239.13 34
  • 37 (a)
ManyToMany
D2045.8 34
  • 34 (a)
ManyToMany
C40A11.6 34
  • 33 (a)
ManyToMany
ZC239.17 34
  • 33 (a)
ManyToMany
C40A11.7 34
  • 32 (a)
ManyToMany
B0281.6 34
  • 32 (a)
ManyToMany
ZC239.16 34
  • 32 (a)
ManyToMany
B0281.5 34
  • 31 (a)
ManyToMany
F22E5.6 34
  • 30 (a)
ManyToMany
sdz-35 34
  • 30 (a)
ManyToMany
ZC239.14 34
  • 29 (a)
ManyToMany
T08G3.13 34
  • 29 (a)
ManyToMany
ZC239.3 34
  • 28 (a)
ManyToMany
F22E5.12 34
  • 28 (a)
ManyToMany
ZC239.15 34
  • 28 (a)
ManyToMany
C17F4.8 34
  • 27 (a)
ManyToMany
ZC239.4 34
  • 27 (a)
ManyToMany
K02F6.8 34
  • 26 (a)
ManyToMany
ZC239.5 34
  • 26 (a)
ManyToMany
C40A11.3 34
  • 26 (a)
ManyToMany
K02F6.5 34
  • 26 (a)
ManyToMany
T05E12.3 34
  • 25 (a)
ManyToMany
C40A11.2 34
  • 25 (a)
ManyToMany
ZC239.6 34
  • 24 (a)
ManyToMany
C40A11.4 34
  • 23 (a)
ManyToMany
F22E5.11 34
  • 22 (a)
ManyToMany
F22E5.8 34
  • 22 (a)
ManyToMany
ZC239.2 34
  • 22 (a)
ManyToMany
F22E5.13 34
  • 18 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9320 34
  • 62 (a)
OneToMany
Species where no ortholog for KCTD13 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for KCTD13 Gene

ENSEMBL:
Gene Tree for KCTD13 (if available)
TreeFam:
Gene Tree for KCTD13 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for KCTD13: view image

Paralogs for KCTD13 Gene

Paralogs for KCTD13 Gene

(5) SIMAP similar genes for KCTD13 Gene using alignment to 5 proteins:

  • BACD1_HUMAN
  • H3BM90_HUMAN
  • I3L108_HUMAN
  • I3L1U2_HUMAN
  • I3L3K4_HUMAN
genes like me logo Genes that share paralogs with KCTD13: view

Variants for KCTD13 Gene

Sequence variations from dbSNP and Humsavar for KCTD13 Gene

SNP ID Clin Chr 16 pos Variation AA Info Type
rs1000097510 -- 29,924,311(-) T/A intron_variant
rs1000236584 -- 29,910,828(-) G/T downstream_transcript_variant, genic_downstream_transcript_variant, intron_variant
rs1000326983 -- 29,923,010(-) G/A intron_variant
rs1000588711 -- 29,910,486(-) T/C genic_downstream_transcript_variant, intron_variant
rs1000934046 -- 29,921,574(-) C/T 3_prime_UTR_variant, intron_variant

Variation tolerance for KCTD13 Gene

Residual Variation Intolerance Score: 20.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.44; 9.61% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for KCTD13 Gene

Human Gene Mutation Database (HGMD)
KCTD13
SNPedia medical, phenotypic, and genealogical associations of SNPs for
KCTD13

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for KCTD13 Gene

Disorders for KCTD13 Gene

MalaCards: The human disease database

(4) MalaCards diseases for KCTD13 Gene - From: LncRNADisease, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
osteoarthritis
  • kashin-beck disease
hepatocellular carcinoma
  • hcc
schizophrenia
  • sczd
autism
  • autistic disorder
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

BACD1_HUMAN
  • Note=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). {ECO:0000269 PubMed:22596160, ECO:0000269 PubMed:25695269}.

Additional Disease Information for KCTD13

genes like me logo Genes that share disorders with KCTD13: view

No data available for Genatlas for KCTD13 Gene

Publications for KCTD13 Gene

  1. A tumor necrosis factor alpha- and interleukin 6-inducible protein that interacts with the small subunit of DNA polymerase delta and proliferating cell nuclear antigen. (PMID: 11593007) He H … So AG (Proceedings of the National Academy of Sciences of the United States of America 2001) 2 3 4 22 58
  2. Structural complexity in the KCTD family of Cullin3-dependent E3 ubiquitin ligases. (PMID: 28963344) Pinkas DM … Bullock AN (The Biochemical journal 2017) 3 4 58
  3. Identification of rare variants in KCTD13 at the schizophrenia risk locus 16p11.2. (PMID: 27668412) Degenhardt F … Nöthen MM (Psychiatric genetics 2016) 3 4 58
  4. Proliferating cell nuclear antigen (PCNA)-binding protein C1orf124 is a regulator of translesion synthesis. (PMID: 22902628) Ghosal G … Chen J (The Journal of biological chemistry 2012) 3 4 58
  5. KCTD13 is a major driver of mirrored neuroanatomical phenotypes of the 16p11.2 copy number variant. (PMID: 22596160) Golzio C … Katsanis N (Nature 2012) 3 4 58

Products for KCTD13 Gene

Sources for KCTD13 Gene

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