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Aliases for KLHDC1 Gene

Aliases for KLHDC1 Gene

  • Kelch Domain Containing 1 2 3
  • MST025 3

External Ids for KLHDC1 Gene

Previous GeneCards Identifiers for KLHDC1 Gene

  • GC14P043955
  • GC14P048149
  • GC14P049229
  • GC14P050159
  • GC14P030277

Summaries for KLHDC1 Gene

GeneCards Summary for KLHDC1 Gene

KLHDC1 (Kelch Domain Containing 1) is a Protein Coding gene. An important paralog of this gene is HCFC2.

No data available for Entrez Gene Summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KLHDC1 Gene

Genomics for KLHDC1 Gene

Regulatory Elements for KLHDC1 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for KLHDC1 Gene

Chromosome:
14
Start:
49,693,105 bp from pter
End:
49,753,152 bp from pter
Size:
60,048 bases
Orientation:
Plus strand

Genomic View for KLHDC1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for KLHDC1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KLHDC1 Gene

Proteins for KLHDC1 Gene

  • Protein details for KLHDC1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N7A1-KLDC1_HUMAN
    Recommended name:
    Kelch domain-containing protein 1
    Protein Accession:
    Q8N7A1
    Secondary Accessions:
    • B3KXD9
    • Q8WYI1

    Protein attributes for KLHDC1 Gene

    Size:
    406 amino acids
    Molecular mass:
    46720 Da
    Quaternary structure:
    No Data Available

neXtProt entry for KLHDC1 Gene

Proteomics data for KLHDC1 Gene at MOPED

Post-translational modifications for KLHDC1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for KLHDC1 Gene

Antibody Products

No data available for DME Specific Peptides for KLHDC1 Gene

Domains & Families for KLHDC1 Gene

Protein Domains for KLHDC1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for KLHDC1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8N7A1

UniProtKB/Swiss-Prot:

KLDC1_HUMAN :
  • Contains 6 Kelch repeats.
Similarity:
  • Contains 6 Kelch repeats.
genes like me logo Genes that share domains with KLHDC1: view

No data available for Gene Families for KLHDC1 Gene

Function for KLHDC1 Gene

Phenotypes for KLHDC1 Gene

genes like me logo Genes that share phenotypes with KLHDC1: view

Animal Model Products

miRNA for KLHDC1 Gene

miRTarBase miRNAs that target KLHDC1

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for KLHDC1

In Situ Assay Products

Flow Cytometry Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets and HOMER Transcription for KLHDC1 Gene

Localization for KLHDC1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KLHDC1 Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for KLHDC1 Gene COMPARTMENTS Subcellular localization image for KLHDC1 gene
Compartment Confidence
cytosol 2

Gene Ontology (GO) - Cellular Components for KLHDC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA --
genes like me logo Genes that share ontologies with KLHDC1: view

Pathways & Interactions for KLHDC1 Gene

SuperPathways for KLHDC1 Gene

No Data Available

Interacting Proteins for KLHDC1 Gene

Gene Ontology (GO) - Biological Process for KLHDC1 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for KLHDC1 Gene

Drugs & Compounds for KLHDC1 Gene

No Compound Related Data Available

Transcripts for KLHDC1 Gene

Unigene Clusters for KLHDC1 Gene

Kelch domain containing 1:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for KLHDC1

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for KLHDC1 Gene

No ASD Table

Relevant External Links for KLHDC1 Gene

GeneLoc Exon Structure for
KLHDC1
ECgene alternative splicing isoforms for
KLHDC1

Expression for KLHDC1 Gene

mRNA expression in normal human tissues for KLHDC1 Gene

Protein differential expression in normal tissues from HIPED for KLHDC1 Gene

This gene is overexpressed in Liver, secretome (58.7) and Peripheral blood mononuclear cells (10.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for KLHDC1 Gene



SOURCE GeneReport for Unigene cluster for KLHDC1 Gene Hs.509258

mRNA Expression by UniProt/SwissProt for KLHDC1 Gene

Q8N7A1-KLDC1_HUMAN
Tissue specificity: Widely expressed, with high levels in skeletal muscle, pancreas and liver. Undetectable in peripheral blood leukocytes.
genes like me logo Genes that share expression patterns with KLHDC1: view

Protein tissue co-expression partners for KLHDC1 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for KLHDC1 Gene

Orthologs for KLHDC1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for KLHDC1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia KLHDC1 35
  • 94.75 (n)
  • 94.33 (a)
KLHDC1 36
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia KLHDC1 35
  • 94.01 (n)
  • 94.09 (a)
KLHDC1 36
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Klhdc1 35
  • 88.72 (n)
  • 88.89 (a)
Klhdc1 16
Klhdc1 36
  • 89 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia KLHDC1 35
  • 99.59 (n)
  • 99.26 (a)
KLHDC1 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Klhdc1 35
  • 87.63 (n)
  • 91.3 (a)
oppossum
(Monodelphis domestica)
Mammalia KLHDC1 36
  • 71 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KLHDC1 36
  • 82 (a)
OneToOne
chicken
(Gallus gallus)
Aves KLHDC1 35
  • 79.27 (n)
  • 83.25 (a)
KLHDC1 36
  • 81 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia KLHDC1 36
  • 73 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia klhdc1 35
  • 72.73 (n)
  • 70.25 (a)
zebrafish
(Danio rerio)
Actinopterygii LOC101883226 35
  • 54.71 (n)
  • 46.19 (a)
CABZ01073069.1 36
  • 42 (a)
OneToMany
CABZ01073071.1 36
  • 40 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes KEL1 36
  • 8 (a)
ManyToMany
KEL2 36
  • 10 (a)
ManyToMany
Species with no ortholog for KLHDC1:
  • 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)
  • 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 KLHDC1 Gene

ENSEMBL:
Gene Tree for KLHDC1 (if available)
TreeFam:
Gene Tree for KLHDC1 (if available)

Paralogs for KLHDC1 Gene

Paralogs for KLHDC1 Gene

genes like me logo Genes that share paralogs with KLHDC1: view

Variants for KLHDC1 Gene

Sequence variations from dbSNP and Humsavar for KLHDC1 Gene

SNP ID Clin Chr 14 pos Sequence Context AA Info Type MAF
rs4243560 -- 49,734,980(+) TAATA(A/T)TTTTA intron-variant
rs4243561 -- 49,735,280(+) ATAGT(A/G)TAATA intron-variant
rs4243562 -- 49,735,409(+) ATTTA(A/G)TGATA intron-variant
rs4296170 -- 49,692,461(+) CCTTT(C/T)GTGTA upstream-variant-2KB
rs4301946 -- 49,728,961(+) CATAC(A/G/T)TGTGC synonymous-codon, reference, nc-transcript-variant

Structural Variations from Database of Genomic Variants (DGV) for KLHDC1 Gene

Variant ID Type Subtype PubMed ID
esv28926 CNV Gain+Loss 19812545
esv2657550 CNV Deletion 23128226
dgv396e199 CNV Deletion 23128226
esv260001 OTHER Complex 20981092
esv259642 OTHER Complex 20981092
esv2484466 CNV Insertion 19546169
nsv1269 CNV Insertion 18451855
nsv509533 CNV Insertion 20534489

Variation tolerance for KLHDC1 Gene

Residual Variation Intolerance Score: 20.06% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.79; 16.59% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for KLHDC1 Gene

HapMap Linkage Disequilibrium report
KLHDC1
Human Gene Mutation Database (HGMD)
KLHDC1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KLHDC1 Gene

Disorders for KLHDC1 Gene

Relevant External Links for KLHDC1

Genetic Association Database (GAD)
KLHDC1
Human Genome Epidemiology (HuGE) Navigator
KLHDC1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KLHDC1
genes like me logo Genes that share disorders with KLHDC1: view

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for KLHDC1 Gene

Publications for KLHDC1 Gene

  1. Crystal-contact engineering to obtain a crystal form of the Kelch domain of human Keap1 suitable for ligand-soaking experiments. (PMID: 23722832) HAPrer S. … Nar H. (Acta Crystallogr. Sect. F Struct. Biol. Cryst. Commun. 2013) 67
  2. Genome-wide searching of rare genetic variants in WTCCC data. (PMID: 20549515) Feng T. … Zhu X. (Hum. Genet. 2010) 67
  3. CCR4 and CCR10 ligands play additive roles in mouse contact hypersensitivity. (PMID: 18095942) Mirshahpanah P. … Zollner T.M. (Exp. Dermatol. 2008) 67
  4. Toward a confocal subcellular atlas of the human proteome. (PMID: 18029348) Barbe L. … Andersson-Svahn H. (Mol. Cell Proteomics 2008) 67
  5. Differential subcellular localization and activity of kelch repeat proteins KLHDC1 and KLHDC2. (PMID: 16964437) Chin K.-T. … Jin D.-Y. (Mol. Cell. Biochem. 2007) 67

Products for KLHDC1 Gene

Sources for KLHDC1 Gene

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