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Aliases for KLHDC1 Gene

Aliases for KLHDC1 Gene

  • Kelch Domain Containing 1 2 3 5
  • 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. Diseases associated with KLHDC1 include Myelodysplastic Myeloproliferative Cancer. An important paralog of this gene is KLHDC2.

Additional gene information for KLHDC1 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 KLHDC1 Gene

Genomics for KLHDC1 Gene

GeneHancer (GH) Regulatory Elements for KLHDC1 Gene

Promoters and enhancers for KLHDC1 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
GH14J049691 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 650.7 -0.3 -342 2.9 HDGF PKNOX1 FOXA2 SIN3A DMAP1 YY1 ZNF207 ZNF143 SP3 ZHX2 KLHDC1 VCPKMT NEMF LRR1 POLE2 GC14P049663
GH14J049860 Promoter/Enhancer 2.1 FANTOM5 Ensembl ENCODE dbSUPER 48.2 +169.2 169189 4.6 CLOCK MLX FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 GC14P049865 RN7SL2 PIR56593 GC14M049869 GC14M049865 ENSG00000278002 KLHDC1 NEMF VCPKMT MAP4K5
GH14J049583 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 30.1 -107.3 -107298 4 HDGF CLOCK SMAD1 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B IRF4 YY1 RPS29 GC14M049586 RN7SL1 PIR42644 GC14P049611 GC14M049587 ENSG00000283029 LRR1 RPL36AL KLHDC1
GH14J049766 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 11.1 +76.2 76206 5.7 PKNOX1 FOXA2 MLX ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 KLHDC2 LRR1 RPL36AL RNU6ATAC30P POLE2 KLHDC1 GC14M049783
GH14J050446 Enhancer 0.8 ENCODE 26.4 +754.3 754278 1.5 PKNOX1 CLOCK BRCA1 ZNF366 RCOR1 FOS SP3 CEBPB ZNF148 ZNF217 ENSG00000259113 KLHDC1 NEMF CDKL1 ATL1 MAP4K5 ENSG00000258377 DNAAF2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around KLHDC1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the KLHDC1 gene promoter:

Genomic Locations for KLHDC1 Gene

Genomic Locations for KLHDC1 Gene
chr14:49,693,105-49,753,152
(GRCh38/hg38)
Size:
60,048 bases
Orientation:
Plus strand
chr14:50,159,823-50,219,870
(GRCh37/hg19)

Genomic View for KLHDC1 Gene

Genes around KLHDC1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KLHDC1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

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 & Families for KLHDC1 Gene

Gene Families for KLHDC1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

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

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

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

Function for KLHDC1 Gene

Phenotypes From GWAS Catalog 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

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , 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
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 KLHDC1 gene
Compartment Confidence
cytosol 5
cytoskeleton 3
nucleus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for KLHDC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol IDA --
genes like me logo Genes that share ontologies with KLHDC1: view

Pathways & Interactions for KLHDC1 Gene

SuperPathways for KLHDC1 Gene

No Data Available

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

mRNA/cDNA for KLHDC1 Gene

Unigene Clusters for KLHDC1 Gene

Kelch domain containing 1:
Representative Sequences:

Clone 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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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 and MOPED for KLHDC1 Gene



Protein tissue co-expression partners for KLHDC1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of KLHDC1 Gene:

KLHDC1

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.

Evidence on tissue expression from TISSUES for KLHDC1 Gene

  • Nervous system(4.1)
genes like me logo Genes that share expression patterns with KLHDC1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 34 33
  • 99.59 (n)
OneToOne
cow
(Bos Taurus)
Mammalia KLHDC1 34 33
  • 94.75 (n)
OneToOne
dog
(Canis familiaris)
Mammalia KLHDC1 34 33
  • 94.01 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Klhdc1 16 34 33
  • 88.72 (n)
rat
(Rattus norvegicus)
Mammalia Klhdc1 33
  • 87.63 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia KLHDC1 34
  • 82 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia KLHDC1 34
  • 71 (a)
OneToOne
chicken
(Gallus gallus)
Aves KLHDC1 34 33
  • 79.27 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia KLHDC1 34
  • 73 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia klhdc1 33
  • 72.73 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC101883226 33
  • 54.71 (n)
CABZ01073069.1 34
  • 42 (a)
OneToMany
CABZ01073071.1 34
  • 40 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes KEL2 34
  • 10 (a)
ManyToMany
KEL1 34
  • 8 (a)
ManyToMany
Species where no ortholog for KLHDC1 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)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for KLHDC1: view image

Paralogs for KLHDC1 Gene

Paralogs for KLHDC1 Gene

(50) SIMAP similar genes for KLHDC1 Gene using alignment to 5 proteins:

  • KLDC1_HUMAN
  • G3V2D3_HUMAN
  • G3V3T1_HUMAN
  • G3V4I4_HUMAN
  • G3V5V5_HUMAN
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 Variation AA Info Type
rs1000023923 -- 49,730,877(+) C/T intron_variant
rs1000059170 -- 49,738,247(+) G/A intron_variant
rs1000107770 -- 49,747,604(+) G/T genic_downstream_transcript_variant, intron_variant
rs1000118199 -- 49,731,108(+) C/T intron_variant
rs1000127167 -- 49,722,271(+) C/T intron_variant

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

Variant ID Type Subtype PubMed ID
dgv1252e59 CNV tandem duplication 20981092
dgv396e199 CNV deletion 23128226
esv2484466 CNV insertion 19546169
esv2657550 CNV deletion 23128226
esv2857013 CNV duplication 24192839
esv28926 CNV gain+loss 19812545
esv3375655 CNV duplication 20981092
esv3634466 CNV gain 21293372
esv3634467 CNV gain 21293372
esv3634468 CNV gain 21293372
esv3634469 CNV gain 21293372
nsv1035708 CNV gain 25217958
nsv1142847 CNV tandem duplication 24896259
nsv1269 CNV insertion 18451855
nsv509533 CNV insertion 20534489
nsv564834 CNV loss 21841781

Variation tolerance for KLHDC1 Gene

Residual Variation Intolerance Score: 20.1% 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)

Additional Variant Information for KLHDC1 Gene

Human Gene Mutation Database (HGMD)
KLHDC1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
KLHDC1

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

Disorders for KLHDC1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for KLHDC1 Gene - From: HGMD and DISEASES

Disorder Aliases PubMed IDs
myelodysplastic myeloproliferative cancer
  • myelodysplastic/myeloproliferative neoplasm
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for KLHDC1

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

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

Publications for KLHDC1 Gene

  1. Genome-wide searching of rare genetic variants in WTCCC data. (PMID: 20549515) Feng T … Zhu X (Human genetics 2010) 3 44 58
  2. Differential subcellular localization and activity of kelch repeat proteins KLHDC1 and KLHDC2. (PMID: 16964437) Chin KT … Jin DY (Molecular and cellular biochemistry 2007) 3 4 58
  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 58
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  5. Crystal-contact engineering to obtain a crystal form of the Kelch domain of human Keap1 suitable for ligand-soaking experiments. (PMID: 23722832) Hörer S … Nar H (Acta crystallographica. Section F, Structural biology and crystallization communications 2013) 3 58

Products for KLHDC1 Gene

Sources for KLHDC1 Gene

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