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KBTBD3 Gene(Protein Coding)

Kelch Repeat And BTB Domain Containing 3

GCID:
GC11M106048
GIFtS:
39
Genes Participants
UDN Logo

Aliases for KBTBD3 Gene

Aliases for KBTBD3 Gene

  • Kelch Repeat And BTB Domain Containing 3 2 3 5
  • Kelch Repeat And BTB (POZ) Domain Containing 3 2 3
  • BTB And Kelch Domain-Containing Protein 3 3 4
  • BTB And Kelch Domain Containing 3 2 3
  • BKLHD3 3 4
  • Kelch Repeat And BTB Domain-Containing Protein 3 3

External Ids for KBTBD3 Gene

Previous HGNC Symbols for KBTBD3 Gene

  • BKLHD3

Previous GeneCards Identifiers for KBTBD3 Gene

  • GC11M105460
  • GC11M105459
  • GC11M105427
  • GC11M105921
  • GC11M101852

Summaries for KBTBD3 Gene

GeneCards Summary for KBTBD3 Gene

KBTBD3 (Kelch Repeat And BTB Domain Containing 3) is a Protein Coding gene. An important paralog of this gene is KLHL24.

Additional gene information for KBTBD3 Gene

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KBTBD3 Gene

Genomics for KBTBD3 Gene

Products:

  1. Regulatory Element

GeneHancer (GH) Regulatory Elements for KBTBD3 Gene

Promoters and enhancers for KBTBD3 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
GH11I106075 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 556.5 +0.3 311 3.2 HDGF PKNOX1 FOXA2 ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 IRF4 KBTBD3 AASDHPPT LOC105369473 MSANTD4
GH11I106238 Enhancer 0.5 ENCODE 5.3 -161.3 -161310 1.2 PKNOX1 MAFF ZNF316 MAFG MAFK EMSY LOC643855 KBTBD3 LOC101928535 LOC105369473
GH11I105708 Enhancer 0.3 FANTOM5 5.3 +369.3 369267 0.1 GRIA4 KBTBD3 MSANTD4 HSPD1P13 RNU4-55P
GH11I105803 Enhancer 0.3 FANTOM5 3.2 +273.7 273714 0.4 GRIA4 KBTBD3 MSANTD4 AASDHPPT RNU4-55P HSPD1P13
GH11I106087 Enhancer 0.6 ENCODE 0.4 -10.2 -10244 0.2 CTCF ZNF654 FOXA2 ARNT TRIM22 CEBPB REST CEBPG RAD21 CEBPA KBTBD3 ENSG00000254433 AASDHPPT
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around KBTBD3 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the KBTBD3 gene promoter:

Genomic Locations for KBTBD3 Gene

Genomic Locations for KBTBD3 Gene
chr11:106,046,806-106,077,765
(GRCh38/hg38)
Size:
30,960 bases
Orientation:
Minus strand
chr11:105,921,825-105,948,492
(GRCh37/hg19)

Genomic View for KBTBD3 Gene

Genes around KBTBD3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KBTBD3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KBTBD3 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for KBTBD3 Gene

Proteins for KBTBD3 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for KBTBD3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8NAB2-KBTB3_HUMAN
    Recommended name:
    Kelch repeat and BTB domain-containing protein 3
    Protein Accession:
    Q8NAB2
    Secondary Accessions:
    • Q6N066
    • Q86X38
    • Q96NK5

    Protein attributes for KBTBD3 Gene

    Size:
    608 amino acids
    Molecular mass:
    69395 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAI17467.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=CAE45804.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=EAW67073.1; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for KBTBD3 Gene

Protein Expression for KBTBD3 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for KBTBD3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for KBTBD3 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for KBTBD3 Gene

Domains & Families for KBTBD3 Gene

Gene Families for KBTBD3 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for KBTBD3 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for KBTBD3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with KBTBD3: view

No data available for UniProtKB/Swiss-Prot for KBTBD3 Gene

Function for KBTBD3 Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Gene Ontology (GO) - Molecular Function for KBTBD3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004842 contributes_to ubiquitin-protein transferase activity IBA --
genes like me logo Genes that share ontologies with KBTBD3: view
genes like me logo Genes that share phenotypes with KBTBD3: view

Animal Model Products

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for KBTBD3 Gene

Localization for KBTBD3 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 KBTBD3 gene
Compartment Confidence
cytosol 3
nucleus 2

Gene Ontology (GO) - Cellular Components for KBTBD3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0031463 Cul3-RING ubiquitin ligase complex IBA --
genes like me logo Genes that share ontologies with KBTBD3: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from the Human Protein Atlas (HPA) for KBTBD3 Gene

Pathways & Interactions for KBTBD3 Gene

SuperPathways for KBTBD3 Gene

PathCards logo More details on SuperPathways for KBTBD3
No Data Available

Interacting Proteins for KBTBD3 Gene

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)
http://version10.5.string-db.org/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000432163%0d%0a9606.ENSP00000271308%0d%0a9606.ENSP00000216455%0d%0a9606.ENSP00000393596%0d%0a9606.ENSP00000457299%0d%0a9606.ENSP00000414359%0d%0a
Selected Interacting proteins: ENSP00000432163 Q8NAB2-KBTB3_HUMAN for KBTBD3 Gene via STRING IID

Gene Ontology (GO) - Biological Process for KBTBD3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016567 protein ubiquitination IEA --
genes like me logo Genes that share ontologies with KBTBD3: view

No data available for Pathways by source and SIGNOR curated interactions for KBTBD3 Gene

Drugs & Compounds for KBTBD3 Gene

Products:

  1. Drug
No Compound Related Data Available

Transcripts for KBTBD3 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for KBTBD3 Gene

(6) REFSEQ mRNAs :
(10) Additional mRNA sequences :
(60) Selected AceView cDNA sequences:
(7) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for KBTBD3 Gene

Kelch repeat and BTB (POZ) domain containing 3:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for KBTBD3 Gene

ExUns: 1 ^ 2a · 2b ^ 3a · 3b ^ 4a · 4b
SP1: -
SP2: - - -
SP3:

Relevant External Links for KBTBD3 Gene

GeneLoc Exon Structure for
KBTBD3
ECgene alternative splicing isoforms for
KBTBD3

Expression for KBTBD3 Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for KBTBD3 Gene

mRNA expression in normal human tissues for KBTBD3 Gene
mRNA expression by GTEx for KBTBD3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for KBTBD3 Gene

This gene is overexpressed in Frontal cortex (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for KBTBD3 Gene



Protein tissue co-expression partners for KBTBD3 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of KBTBD3 Gene:

KBTBD3

SOURCE GeneReport for Unigene cluster for KBTBD3 Gene:

Hs.101949

Evidence on tissue expression from TISSUES for KBTBD3 Gene

  • Nervous system(4.3)
  • Spleen(4.1)
genes like me logo Genes that share expression patterns with KBTBD3: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for KBTBD3 Gene

Orthologs for KBTBD3 Gene

This gene was present in the common ancestor of chordates.

Orthologs for KBTBD3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia KBTBD3 33 34
  • 99.78 (n)
cow
(Bos Taurus)
 Mammalia KBTBD3 33 34
  • 93.94 (n)
dog
(Canis familiaris)
 Mammalia KBTBD3 33 34
  • 90.03 (n)
rat
(Rattus norvegicus)
 Mammalia Kbtbd3 33
  • 88.15 (n)
oppossum
(Monodelphis domestica)
 Mammalia KBTBD3 34
  • 88 (a)
 OneToOne
mouse
(Mus musculus)
 Mammalia Kbtbd3 33 16 34
  • 87.93 (n)
platypus
(Ornithorhynchus anatinus)
 Mammalia KBTBD3 34
  • 71 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves KBTBD3 33 34
  • 78.64 (n)
lizard
(Anolis carolinensis)
 Reptilia KBTBD3 34
  • 78 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia kbtbd3 33
  • 72.85 (n)
zebrafish
(Danio rerio)
 Actinopterygii kbtbd3 33 34
  • 57.12 (n)
Species where no ortholog for KBTBD3 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)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for KBTBD3 Gene

ENSEMBL:
Gene Tree for KBTBD3 (if available)
TreeFam:
Gene Tree for KBTBD3 (if available)

Paralogs for KBTBD3 Gene

Variants for KBTBD3 Gene

Products:

  1. SNP Genotyping and Copy Number Assay

Sequence variations from dbSNP and Humsavar for KBTBD3 Gene

SNP ID Clin Chr 11 pos Variation AA Info Type
rs1000080423 -- 106,071,559(-) A/C intron_variant
rs1000410722 -- 106,066,992(-) C/G intron_variant
rs1000572140 -- 106,051,293(-) A/G 3_prime_UTR_variant
rs1000601594 -- 106,060,196(-) A/C intron_variant
rs1000623423 -- 106,076,359(-) G/A 5_prime_UTR_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for KBTBD3 Gene

Variant ID Type Subtype PubMed ID
nsv1052674 CNV loss 25217958

Variation tolerance for KBTBD3 Gene

Residual Variation Intolerance Score: 15.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.85; 34.63% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for KBTBD3 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
KBTBD3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KBTBD3 Gene

Disorders for KBTBD3 Gene

Additional Disease Information for KBTBD3

ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for KBTBD3 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for KBTBD3 Gene

Publications for KBTBD3 Gene

  1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  3. Investigation of low-dose ritonavir on human peripheral blood mononuclear cells using gene expression whole genome microarrays. (PMID: 20353815) Yilmaz S … McGregor JL (Genomics 2010) 3 58
  4. HSP27 and HSP70 interact with CD10 in C4-2 prostate cancer cells. (PMID: 17342744) Dall'Era MA … Liu AY (The Prostate 2007) 3 58
  5. The full-ORF clone resource of the German cDNA Consortium. (PMID: 17974005) Bechtel S … Schupp I (BMC genomics 2007) 4 58

Products for KBTBD3 Gene

Sources for KBTBD3 Gene

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