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Aliases for KLHDC3 Gene

Aliases for KLHDC3 Gene

  • Kelch Domain Containing 3 2 3 5
  • Testis Intracellular Mediator Protein 3 4
  • PEAS 3 4
  • Kelch Domain-Containing Protein 3 3
  • Protein Peas 4
  • DJ20C7.3 3

External Ids for KLHDC3 Gene

Previous GeneCards Identifiers for KLHDC3 Gene

  • GC06P042983
  • GC06P043030
  • GC06P043031
  • GC06P043089
  • GC06P042981
  • GC06P042699

Summaries for KLHDC3 Gene

Entrez Gene Summary for KLHDC3 Gene

  • The protein encoded by this gene contains six repeated kelch motifs that are structurally similar to recombination activating gene 2, a protein involved in the activation of the V(D)J recombination. In mouse, this gene is found to be expressed specifically in testis. Its expression in pachytene spermatocytes is localized to cytoplasma and meiotic chromatin, suggesting that this gene may be involved in meiotic recombination. [provided by RefSeq, Jun 2012]

GeneCards Summary for KLHDC3 Gene

KLHDC3 (Kelch Domain Containing 3) is a Protein Coding gene. Among its related pathways are Unfolded Protein Response (UPR) and Metabolism of proteins. GO annotations related to this gene include chromatin binding. An important paralog of this gene is HCFC1.

UniProtKB/Swiss-Prot for KLHDC3 Gene

  • May be involved in meiotic recombination process.

Gene Wiki entry for KLHDC3 Gene

Additional gene information for KLHDC3 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KLHDC3 Gene

Genomics for KLHDC3 Gene

Regulatory Elements for KLHDC3 Gene

Enhancers for KLHDC3 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH06H042901 1.5 Ensembl ENCODE dbSUPER 10.8 -111.1 -111053 3 FOXA2 ARNT ZFP64 ARID4B DMAP1 ZNF2 YY1 TCF12 SLC30A9 ZNF143 RPL7L1 PEX6 CNPY3 ENSG00000231113 PPP2R5D KLC4 RN7SL403P CUL7 KLHDC3 MEA1
GH06H042928 1.4 ENCODE dbSUPER 10.8 -83.3 -83315 5 MLX ZFP64 DMAP1 YY1 SLC30A9 ZNF143 SP3 NFYC PPARGC1A ZNF610 PEX6 ZNF318 POLH XPO5 RRP36 CUL7 GTPBP2 ABCC10 PPP2R5D RPS2P29
GH06H043141 1.3 Ensembl ENCODE 10.8 +129.4 129360 3 HDGF ARID4B SIN3A ZNF2 ZNF143 SP5 MXD4 REST ZNF592 KAT8 CUL7 DNPH1 KLC4 RN7SL403P MEA1 KLHDC3 PPP2R5D RPL7L1 SRF PIR51341
GH06H043119 1.3 Ensembl ENCODE dbSUPER 10.5 +109.3 109287 8 ZBTB21 ZIC2 ZNF324 ZNF121 ZFHX2 GLIS2 POLR2A ZBTB48 EGR1 SCRT2 CUL7 PTK7 KLC4 RN7SL403P PPP2R5D ENSG00000231113 CNPY3 DNPH1 KLHDC3 MEA1
GH06H043095 1.3 Ensembl ENCODE dbSUPER 10.2 +82.9 82862 3 PKNOX1 FOXA2 RB1 SIN3A GATA2 SCRT2 FOS IKZF2 ZNF362 GLIS1 PEX6 CUL7 PPP2R5D MEA1 KLHDC3 DNPH1 PIR51341 SRF
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around KLHDC3 on UCSC Golden Path with GeneCards custom track

Promoters for KLHDC3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000197076 97 2001 HDGF PKNOX1 FOXA2 MLX ARNT ARID4B SIN3A DMAP1 YY1 ZNF766

Genomic Location for KLHDC3 Gene

Chromosome:
6
Start:
43,014,103 bp from pter
End:
43,021,298 bp from pter
Size:
7,196 bases
Orientation:
Plus strand

Genomic View for KLHDC3 Gene

Genes around KLHDC3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KLHDC3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KLHDC3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KLHDC3 Gene

Proteins for KLHDC3 Gene

  • Protein details for KLHDC3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BQ90-KLDC3_HUMAN
    Recommended name:
    Kelch domain-containing protein 3
    Protein Accession:
    Q9BQ90
    Secondary Accessions:
    • A8K2W9

    Protein attributes for KLHDC3 Gene

    Size:
    382 amino acids
    Molecular mass:
    43088 Da
    Quaternary structure:
    No Data Available

neXtProt entry for KLHDC3 Gene

Post-translational modifications for KLHDC3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for KLHDC3 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for KLHDC3 Gene

Domains & Families for KLHDC3 Gene

Gene Families for KLHDC3 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for KLHDC3 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for KLHDC3 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with KLHDC3: view

No data available for UniProtKB/Swiss-Prot for KLHDC3 Gene

Function for KLHDC3 Gene

Molecular function for KLHDC3 Gene

UniProtKB/Swiss-Prot Function:
May be involved in meiotic recombination process.

Phenotypes From GWAS Catalog for KLHDC3 Gene

Gene Ontology (GO) - Molecular Function for KLHDC3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003682 chromatin binding IDA 12606021
GO:0005515 protein binding IPI 12482870
genes like me logo Genes that share ontologies with KLHDC3: view
genes like me logo Genes that share phenotypes with KLHDC3: view

Animal Model Products

CRISPR Products

miRNA for KLHDC3 Gene

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for KLHDC3
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for KLHDC3 Gene

Localization for KLHDC3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KLHDC3 Gene

Cytoplasm. Note=Also found in meiotic chromatin. {ECO:0000250}.

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 KLHDC3 gene
Compartment Confidence
nucleus 5
cytosol 5
mitochondrion 1
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for KLHDC3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000790 nuclear chromatin IDA 12606021
GO:0005737 cytoplasm IDA,IEA 12606021
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with KLHDC3: view

Pathways & Interactions for KLHDC3 Gene

genes like me logo Genes that share pathways with KLHDC3: view

Gene Ontology (GO) - Biological Process for KLHDC3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007131 reciprocal meiotic recombination NAS 12606021
GO:0036498 IRE1-mediated unfolded protein response TAS --
GO:0051321 meiotic cell cycle IEA --
genes like me logo Genes that share ontologies with KLHDC3: view

No data available for SIGNOR curated interactions for KLHDC3 Gene

Drugs & Compounds for KLHDC3 Gene

No Compound Related Data Available

Transcripts for KLHDC3 Gene

mRNA/cDNA for KLHDC3 Gene

Unigene Clusters for KLHDC3 Gene

Kelch domain containing 3:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for KLHDC3
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for KLHDC3 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6a · 6b · 6c · 6d · 6e ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11a · 11b · 11c
SP1: -
SP2: -
SP3: - -
SP4: - -
SP5: - - - - - - - - - - - - - - -
SP6: - - -
SP7: - - - - -
SP8: - - -
SP9:
SP10:

Relevant External Links for KLHDC3 Gene

GeneLoc Exon Structure for
KLHDC3
ECgene alternative splicing isoforms for
KLHDC3

Expression for KLHDC3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for KLHDC3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for KLHDC3 Gene

This gene is overexpressed in Testis (37.1) and CD8 Tcells (31.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for KLHDC3 Gene



Protein tissue co-expression partners for KLHDC3 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of KLHDC3 Gene:

KLHDC3

SOURCE GeneReport for Unigene cluster for KLHDC3 Gene:

Hs.412468

Evidence on tissue expression from TISSUES for KLHDC3 Gene

  • Nervous system(4.9)
  • Lung(4.7)
  • Eye(4.6)
  • Blood(4.3)
  • Intestine(3.2)
  • Kidney(2.9)
  • Muscle(2.7)
  • Heart(2.4)
  • Pancreas(2.4)
genes like me logo Genes that share expression patterns with KLHDC3: view

Primer Products

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 KLHDC3 Gene

Orthologs for KLHDC3 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for KLHDC3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KLHDC3 33 34
  • 99.65 (n)
dog
(Canis familiaris)
Mammalia KLHDC3 33 34
  • 94.76 (n)
cow
(Bos Taurus)
Mammalia KLHDC3 33 34
  • 93.63 (n)
oppossum
(Monodelphis domestica)
Mammalia KLHDC3 34
  • 91 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Klhdc3 33
  • 90.84 (n)
mouse
(Mus musculus)
Mammalia Klhdc3 33 16 34
  • 90.58 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia KLHDC3 34
  • 90 (a)
OneToOne
chicken
(Gallus gallus)
Aves KLHDC3 33 34
  • 77.57 (n)
lizard
(Anolis carolinensis)
Reptilia KLHDC3 34
  • 87 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia klhdc3 33
  • 71.08 (n)
Str.10302 33
African clawed frog
(Xenopus laevis)
Amphibia klhdc3-prov 33
zebrafish
(Danio rerio)
Actinopterygii klhdc3 33 34
  • 72.74 (n)
Dr.16735 33
fruit fly
(Drosophila melanogaster)
Insecta CG12081 33 34
  • 54.84 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009495 33
  • 50.97 (n)
worm
(Caenorhabditis elegans)
Secernentea F53E4.1 33 34
  • 51.1 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes KEL2 34
  • 9 (a)
ManyToMany
KEL1 34
  • 6 (a)
ManyToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G18610 33
  • 44.52 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.1927 34
  • 52 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.1216 33
Species where no ortholog for KLHDC3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • 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)
  • 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 urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for KLHDC3 Gene

ENSEMBL:
Gene Tree for KLHDC3 (if available)
TreeFam:
Gene Tree for KLHDC3 (if available)

Paralogs for KLHDC3 Gene

Paralogs for KLHDC3 Gene

genes like me logo Genes that share paralogs with KLHDC3: view

Variants for KLHDC3 Gene

Sequence variations from dbSNP and Humsavar for KLHDC3 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
rs1000201066 -- 43,015,228(+) AGCTT(C/T)CTGCT intron-variant, upstream-variant-2KB
rs1001039061 -- 43,013,797(+) ACAGA(A/T)GCCTT intron-variant, upstream-variant-2KB, reference, missense
rs1001151588 -- 43,013,978(+) TATCC(A/C)TGATT intron-variant, upstream-variant-2KB, utr-variant-5-prime
rs1001268356 -- 43,014,282(+) GTTGG(C/T)GCGCA intron-variant, nc-transcript-variant, upstream-variant-2KB, utr-variant-5-prime
rs1001475564 -- 43,021,236(+) GCTGT(C/T)GCTGT nc-transcript-variant, upstream-variant-2KB, utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for KLHDC3 Gene

Variant ID Type Subtype PubMed ID
dgv10640n54 CNV loss 21841781
nsv1017398 CNV gain 25217958
nsv1074927 CNV deletion 25765185
nsv462927 CNV loss 19166990
nsv462930 CNV loss 19166990
nsv602992 CNV loss 21841781

Variation tolerance for KLHDC3 Gene

Residual Variation Intolerance Score: 15.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.26; 5.80% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for KLHDC3 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
KLHDC3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KLHDC3 Gene

Disorders for KLHDC3 Gene

Relevant External Links for KLHDC3

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KLHDC3

No disorders were found for KLHDC3 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for KLHDC3 Gene

Publications for KLHDC3 Gene

  1. A novel testis-specific RAG2-like protein, Peas: its expression in pachytene spermatocyte cytoplasm and meiotic chromatin. (PMID: 12606021) Ohinata Y … Mitsui Y (FEBS letters 2003) 2 3 4 22 60
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60
  3. 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 60
  4. The DNA sequence and analysis of human chromosome 6. (PMID: 14574404) Mungall AJ … Beck S (Nature 2003) 3 4 60
  5. Male-enhanced antigen-1 gene flanked by two overlapping genes is expressed in late spermatogenesis. (PMID: 12444059) Ohinata Y … Mitsui Y (Biology of reproduction 2002) 2 3 60

Products for KLHDC3 Gene

Sources for KLHDC3 Gene

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