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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 Metabolism of proteins and Unfolded Protein Response (UPR). GO annotations related to this gene include chromatin binding. An important paralog of this gene is KLHDC10.

UniProtKB/Swiss-Prot for KLHDC3 Gene

  • May be involved in meiotic recombination process.

Gene Wiki entry for KLHDC3 Gene

No data available for 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
GH06F042893 0.9 Ensembl ENCODE 10.9 -120.2 -120203 1.8 ELF3 HDAC1 ARID4B PTRF CHAMP1 ZBTB2 ZEB2 HDAC8 KAT8 CREB3 RPL7L1 CNPY3 ENSG00000231113 RNU6-890P PPP2R5D KLHDC3 MEA1 PEX6 RN7SL403P KLC4
GH06F042927 0.5 ENCODE 10.8 -83.3 -83315 5.6 CREB3L1 MLX ZFP64 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 NFYC PEX6 CUL9 CUL7 POLH PPP2R5D RRP36 RPL24P4 C6orf226 KLHDC3 MEA1
GH06F042901 0.9 Ensembl ENCODE 10.8 -111.1 -111053 3.3 ZFP64 SIN3A ARID4B DMAP1 ZNF48 ZNF2 SLC30A9 ZNF143 ZNF207 SP5 RPL7L1 PEX6 CNPY3 ENSG00000231113 PPP2R5D KLC4 RN7SL403P CUL7 KLHDC3 MEA1
GH06F042923 0.9 Ensembl ENCODE 10.8 -90.1 -90102 1.6 ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 ELK1 ZNF143 ZNF207 RPL7L1 ENSG00000271970 RPS2P28 ENSG00000223469 RPL24P4 PEX6 PPP2R5D KLHDC3 MEA1 KLC4
GH06F043141 1 Ensembl ENCODE 10.7 +129.4 129360 3.6 HDGF PKNOX1 ZFP64 ARID4B SIN3A ZNF2 ZNF302 ZNF143 ZNF263 SP5 CUL7 POLH RPS2P29 RPL34P14 ENSG00000271970 GLTSCR1L RPL24P4 DNPH1 PEX6 UBR2
- Elite enhancer/Elite enhancer-gene association Download Table
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
ENSR00001216960 197 2201 HDGF PKNOX1 CREB3L1 MLX WRNIP1 ARID4B SIN3A DMAP1 YY1 ZNF143

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

Protein Domains for KLHDC3 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for KLHDC3 Gene

Graphical View of Domain Structure for InterPro Entry

Q9BQ90

UniProtKB/Swiss-Prot:

KLDC3_HUMAN :
  • Contains 5 Kelch repeats.
Similarity:
  • Contains 5 Kelch repeats.
genes like me logo Genes that share domains with KLHDC3: view

No data available for Gene Families for KLHDC3 Gene

Function for KLHDC3 Gene

Molecular function for KLHDC3 Gene

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

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

miRNA for KLHDC3 Gene

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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
Jensen Localization Image for KLHDC3 Gene COMPARTMENTS Subcellular localization image for KLHDC3 gene
Compartment Confidence
cytosol 5
nucleus 5
mitochondrion 1
peroxisome 1

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 IEA,IDA 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

Transcripts for KLHDC3 Gene

Unigene Clusters for KLHDC3 Gene

Kelch domain containing 3:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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 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
genes like me logo Genes that share expression patterns with KLHDC3: view

Primer Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt 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 34 35
  • 99.65 (n)
dog
(Canis familiaris)
Mammalia KLHDC3 34 35
  • 94.76 (n)
cow
(Bos Taurus)
Mammalia KLHDC3 34 35
  • 93.63 (n)
oppossum
(Monodelphis domestica)
Mammalia KLHDC3 35
  • 91 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Klhdc3 34
  • 90.84 (n)
mouse
(Mus musculus)
Mammalia Klhdc3 34 16 35
  • 90.58 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia KLHDC3 35
  • 90 (a)
OneToOne
chicken
(Gallus gallus)
Aves KLHDC3 34 35
  • 77.57 (n)
lizard
(Anolis carolinensis)
Reptilia KLHDC3 35
  • 87 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia klhdc3 34
  • 71.08 (n)
Str.10302 34
African clawed frog
(Xenopus laevis)
Amphibia klhdc3-prov 34
zebrafish
(Danio rerio)
Actinopterygii klhdc3 34 35
  • 72.74 (n)
Dr.16735 34
fruit fly
(Drosophila melanogaster)
Insecta CG12081 34 35
  • 54.84 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009495 34
  • 50.97 (n)
worm
(Caenorhabditis elegans)
Secernentea F53E4.1 34 35
  • 51.1 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes KEL2 35
  • 9 (a)
ManyToMany
KEL1 35
  • 6 (a)
ManyToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G18610 34
  • 44.52 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.1927 35
  • 52 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.1216 34
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
rs10080728 -- 43,021,504(+) GCGGG(C/T)TATCC downstream-variant-500B, upstream-variant-2KB
rs1054337 -- 43,020,940(+) GGCCC(C/T)TTCCC nc-transcript-variant, upstream-variant-2KB, utr-variant-3-prime
rs1054384 -- 43,012,260(-) CTCTG(G/T)GGAGA intron-variant, upstream-variant-2KB, utr-variant-3-prime
rs1054388 -- 43,012,103(-) TAGGT(G/T)TTGGC intron-variant, downstream-variant-500B, upstream-variant-2KB, utr-variant-3-prime
rs111562943 -- 43,019,287(+) TTAAA(A/G)GCCCT splice-acceptor-variant

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 Lett. 2003) 2 3 4 22 64
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  4. The DNA sequence and analysis of human chromosome 6. (PMID: 14574404) Mungall A.J. … Beck S. (Nature 2003) 3 4 64
  5. Male-enhanced antigen-1 gene flanked by two overlapping genes is expressed in late spermatogenesis. (PMID: 12444059) Ohinata Y. … Mitsui Y. (Biol. Reprod. 2002) 2 3 64

Products for KLHDC3 Gene

Sources for KLHDC3 Gene

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