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Aliases for KLHDC1 Gene

Aliases for KLHDC1 Gene

  • Kelch Domain Containing 1 2 3
  • Kelch Domain-Containing Protein 1 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

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

No data available for DME Specific Peptides for KLHDC1 Gene

Domains 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 :
  • Q8N7A1
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

Gene Ontology (GO) - Molecular Function for KLHDC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding --
genes like me logo Genes that share ontologies with KLHDC1: view

Animal Model Products

CRISPR Products

miRNA for KLHDC1 Gene

miRTarBase miRNAs that target KLHDC1

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , Transcription Factor Targeting 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
cytoskeleton 3
cytosol 3
nucleus 1

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 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 for KLHDC1 Gene

Transcripts for KLHDC1 Gene

Unigene Clusters for KLHDC1 Gene

Kelch domain containing 1:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

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

Primer Products

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

Integrated Proteomics: protein expression 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 expressions with KLHDC1: view

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
chimpanzee
(Pan troglodytes)
Mammalia KLHDC1 35
  • 99.59 (n)
  • 99.26 (a)
KLHDC1 36
  • 99 (a)
OneToOne
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
oppossum
(Monodelphis domestica)
Mammalia KLHDC1 36
  • 71 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KLHDC1 36
  • 82 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Klhdc1 35
  • 87.63 (n)
  • 91.3 (a)
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 CABZ01073069.1 36
  • 42 (a)
OneToMany
CABZ01073071.1 36
  • 40 (a)
OneToMany
LOC101883226 35
  • 54.71 (n)
  • 46.19 (a)
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
rs4359343 -- 49,748,137(+) AAGGT(C/G)ATAAA intron-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

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

No data available for UniProtKB/Swiss-Prot for KLHDC1 Gene

Publications for KLHDC1 Gene

  1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  2. 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
  3. Differential subcellular localization and activity of kelch repeat proteins KLHDC1 and KLHDC2. (PMID: 16964437) Chin K.-T. … Jin D.-Y. (Mol. Cell. Biochem. 2007) 3 4
  4. Genome-wide searching of rare genetic variants in WTCCC data. (PMID: 20549515) Feng T. … Zhu X. (Hum. Genet. 2010) 3 48
  5. 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) 3

Products for KLHDC1 Gene

Sources for KLHDC1 Gene

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