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KLHDC1 Gene

protein-coding   GIFtS: 45
GCID: GC14P050159

Kelch Domain Containing 1

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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Kelch Domain Containing 11 2
MST0252
Kelch Domain-Containing Protein 12

External Ids:    HGNC: 198361   Entrez Gene: 1227732   Ensembl: ENSG000001977767   OMIM: 6112815   UniProtKB: Q8N7A13   

Export aliases for KLHDC1 gene to outside databases

Previous GC identifers: GC14P043955 GC14P048149 GC14P049229 GC14P030277


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for KLHDC1 Gene:
KLHDC1 (kelch domain containing 1) is a protein-coding gene. An important paralog of this gene is KLHDC2.


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000014.8  NC_018925.2  NT_026437.13  
Regulatory elements:
   Regulatory transcription factor binding sites in the KLHDC1 gene promoter:
         HOXA9   HOXA9B   Lmo2   AP-4   CUTL1   Meis-1b   CREB   deltaCREB   Zic3   Meis-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidKLHDC1 promoter sequence
   Search Chromatin IP Primers for KLHDC1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat KLHDC1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 14q21.3   Ensembl cytogenetic band:  14q21.3   HGNC cytogenetic band: 14q21.3

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

GeneLoc information about chromosome 14         GeneLoc Exon Structure

GeneLoc location for GC14P050159:  view genomic region     (about GC identifiers)

Start:
50,159,823 bp from pter      End:
50,219,870 bp from pter
Size:
60,048 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: KLDC1_HUMAN, Q8N7A1 (See protein sequence)
Recommended Name: Kelch domain-containing protein 1  
Size: 406 amino acids; 46720 Da
Secondary accessions: B3KXD9 Q8WYI1

Explore the universe of human proteins at neXtProt for KLHDC1: NX_Q8N7A1

Explore proteomics data for KLHDC1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See KLHDC1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_751943.1  
    ENSEMBL proteins: 
     ENSP00000450595   ENSP00000451819   ENSP00000352282   ENSP00000452543   ENSP00000451407  

    KLHDC1 Human Recombinant Protein Products:

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    Cloud-Clone Corp. Proteins for KLHDC1

     
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    antibodies-online proteins for KLHDC1 (4 products) 

     
    antibodies-online peptides for KLHDC1

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    antibodies-online antibodies for KLHDC1 (11 products) 

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    Cloud-Clone Corp. CLIAs for KLHDC1
    Search eBioscience for ELISAs for KLHDC1 
    antibodies-online kits for KLHDC1 (4 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR015915 Kelch-typ_b-propeller

    Graphical View of Domain Structure for InterPro Entry Q8N7A1

    ProtoNet protein and cluster: Q8N7A1

    UniProtKB/Swiss-Prot: KLDC1_HUMAN, Q8N7A1
    Similarity: Contains 6 Kelch repeats


    Find genes that share domains with KLHDC1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
         
    Find genes that share ontologies with KLHDC1           About GenesLikeMe


    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for KLHDC1

    miRNA
    Products:
        
    miRTarBase miRNAs that target KLHDC1:
    hsa-mir-335-5p (MIRT017967)

    Block miRNA regulation of human, mouse, rat KLHDC1 using miScript Target Protectors
    6 qRT-PCR Assays for microRNAs that regulate KLHDC1:
    hsa-miR-587 hsa-miR-466 hsa-miR-526b hsa-miR-590-3p hsa-miR-3941 hsa-miR-410
    SwitchGear 3'UTR luciferase reporter plasmidKLHDC1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat KLHDC1

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    Browse Sino Biological Human cDNA Clones
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    KLDC1_HUMAN, Q8N7A1: Cytoplasm
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton3
    cytosol3
    nucleus1

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA--

    Find genes that share ontologies with KLHDC1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for KLHDC1
    Interactions:

        Search GeneGlobe Interaction Network for KLHDC1

    STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

    4 Interacting proteins for KLHDC1 (ENSP000003522824) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SOS2ENSP000002163734STRING: ENSP00000216373
    PPP1CAENSP000003260314STRING: ENSP00000326031
    PPP1CBENSP000002961224STRING: ENSP00000296122
    PPP1CCENSP000003350844STRING: ENSP00000335084
    About this table

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for KLHDC1 (KLDC1)



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for KLHDC1 gene: 
    NM_172193.2  

    Unigene Cluster for KLHDC1:

    Kelch domain containing 1
    Hs.509258  [show with all ESTs]
    Unigene Representative Sequence: NM_172193
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000556392 ENST00000555704 ENST00000359332(uc001www.3 uc010tqg.2 uc010tqh.2)
    ENST00000553274 ENST00000557128 ENST00000554512
    miRNA
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    6 qRT-PCR Assays for microRNAs that regulate KLHDC1:
    hsa-miR-587 hsa-miR-466 hsa-miR-526b hsa-miR-590-3p hsa-miR-3941 hsa-miR-410
    SwitchGear 3'UTR luciferase reporter plasmidKLHDC1 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for KLHDC1
    Predesigned siRNA for gene silencing in human, mouse, rat KLHDC1
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    GenScript: all cDNA clones in your preferred vector: KLHDC1 (NM_014997)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for KLHDC1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat KLHDC1
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for KLHDC1
    OriGene qSTAR qPCR primer pairs in human, mouse for KLHDC1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat KLHDC1
      QuantiTect SYBR Green Assays in human, mouse, rat KLHDC1
      QuantiFast Probe-based Assays in human, mouse, rat KLHDC1

    Additional mRNA sequence: 

    AF111806.1 AK127202.1 AL833437.1 BC031270.1 BC101595.1 BC101597.1 BC143596.1 BC143597.1 

    4 DOTS entries:

    DT.75128110  DT.100017465  DT.91676299  DT.95100778 

    Selected AceView cDNA sequences (see all 27):

    NM_172193 AF111806 AK127202 CK822677 BI597206 CA942537 BX953504 AI624804 
    BE465875 BC031270 AL702200 CB958796 CD236987 BE465891 BM509918 BI599950 
    AW873321 BM503769 CK822678 N47757 AL833437 AV721319 AI703423 BI602051 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    KLHDC1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CAAGTTATCT
    KLHDC1 Expression
    About this image

    KLHDC1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    KLHDC1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.509258

    UniProtKB/Swiss-Prot: KLDC1_HUMAN, Q8N7A1
    Tissue specificity: Widely expressed, with high levels in skeletal muscle, pancreas and liver. Undetectable in
    peripheral blood leukocytes

        Custom PCR Arrays for KLHDC1
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KLHDC1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for KLHDC1 gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Klhdc11 , 5 kelch domain containing 11, 5 88.72(n)1
    88.89(a)1
      12 (28.74 cM)5
    2710051  NM_178253.51  NP_839984.11 
     692411765 
    chicken
    (Gallus gallus)
    Aves KLHDC11 kelch domain containing 1 79.27(n)
    83.25(a)
      423568  XM_421458.4  XP_421458.1 
    lizard
    (Anolis carolinensis)
    Reptilia KLHDC16
    kelch domain containing 1
    73(a)
    1 ↔ 1
    GL343560.1(81676-99989)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia klhdc11 kelch domain containing 1 72.73(n)
    70.25(a)
      100135383  NM_001251819.1  NP_001238748.1 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC1018832261 kelch domain-containing protein 1-like 54.71(n)
    46.19(a)
      101883226  XM_005173562.1  XP_005173619.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes KEL16
    KEL26
    Protein required for proper cell fusion and cell m...
    Protein that functions in a complex with Kel1p to ...
    8(a)
    10(a)
    many ↔ many
    many ↔ many
    VIII(413685-417179) YHR158C
    VII(966039-968687) YGR238C


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for KLHDC1 gene
    KLHDC22  KLHDC32  HCFC12  LZTR12  RABEPK2  KLHDC102  HCFC22  
    Selected SIMAP similar genes for KLHDC1 using alignment to 5 protein entries:     KLDC1_HUMAN (see all proteins) (see all similar genes):
    COX7A2    IFT122    ZNF568    CCL16    CCPG1    SCIMP
    CES4A    FAM3A    LRTOMT    NSRP1    THADA    ZNF415
    ZNF480    ZNF83    MTA3    ZNHIT3    LGALS3    TMEM67

    Find genes that share paralogs with KLHDC1           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for KLHDC1 (see all 1212)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 14 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs590522121,2
    C--30328955(+) TGTGT-/GTGTGTGTGT
    /GTGTGTGTGTGT
    ATGTA
    1 -- int11NA 2
    rs1159292581,2
    F--31141006(+) GGAACC/TTTCCC 1 -- us2k11Minor allele frequency- T:0.04WA 118
    rs1461583561,2
    --31141112(+) TGTTTA/GCTGGT 1 -- us2k10--------
    rs1394492711,2
    --31141140(+) CTCTAC/TAGTCC 1 -- us2k10--------
    rs1814817531,2
    --31141153(+) GAGGAC/TAAATG 1 -- us2k10--------
    rs1496681801,2
    --31141155(+) GGACAA/GATGCT 1 -- us2k10--------
    rs101442161,2
    C,F,H--31141156(+) GACAAG/ATGCTC 1 -- us2k121Minor allele frequency- A:0.01NS EA NA WA CSA 1173
    rs1172297931,2
    C,F--31141162(+) TGCTCC/TATTTC 1 -- us2k11Minor allele frequency- T:0.01NA 120
    rs1149080621,2
    F--31141178(+) TACAAT/AACCAA 1 -- us2k11Minor allele frequency- A:0.01WA 118
    rs1173340641,2
    C,F--31141387(+) CCCCTC/TCCTAC 1 -- us2k11Minor allele frequency- T:0.02EA 120

    HapMap Linkage Disequilibrium report for KLHDC1 (50159823 - 50219870 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 8 variations for KLHDC1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2657550CNV Deletion23128226
    dgv396e199CNV Deletion23128226
    nsv509533CNV Insertion20534489
    esv2484466CNV Insertion19546169
    nsv1269CNV Insertion18451855
    esv28926CNV Gain+Loss19812545
    esv259642OTHER Complex20981092
    esv260001OTHER Complex20981092

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing KLHDC1
    DNA2.0 Custom Variant and Variant Library Synthesis for KLHDC1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 611281    OMIM disorders: --


    Find genes that share disorders with KLHDC1           About GenesLikeMe

    Genetic Association Database (GAD): KLHDC1
    Human Genome Epidemiology (HuGE) Navigator: KLHDC1 (1 document)

    Export disorders for KLHDC1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for KLHDC1 gene integrated from 10 sources:
    (articles sorted by number of sources associating them with KLHDC1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Genome-wide searching of rare genetic variants in WTCCC data. (PubMed id 20549515)1, 4 Feng T. and Zhu X. (Hum. Genet. 2010)
    2. Differential subcellular localization and activity of kelch repeat proteins KLHDC1 and KLHDC2. (PubMed id 16964437)1, 2 Chin K.-T.... Jin D.-Y. (Mol. Cell. Biochem. 2007)
    3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    5. Interlaboratory reproducibility of large-scale human protein-complex analysis by standardized AP-MS. (PubMed id 23455922)1 Varjosalo M....Superti-Furga G. (Nat. Methods 2013)
    6. Crystal-contact engineering to obtain a crystal form of the Kelch domain of human Keap1 suitable for ligand-soaking experiments. (PubMed id 23722832)1 HAPrer S....Nar H. (Acta Crystallogr. Sect. F Struct. Biol. Cryst. Commun. 2013)
    7. CCR4 and CCR10 ligands play additive roles in mouse contact hypersensitivity. (PubMed id 18095942)1 Mirshahpanah P....Zollner T.M. (Exp. Dermatol. 2008)
    8. Toward a confocal subcellular atlas of the human proteome. (PubMed id 18029348)1 Barbe L....Andersson-Svahn H. (amp 2008)
    9. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)
    10. (PubMed id )2 

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 122773 HGNC: 19836 AceView: KLHDC1 Ensembl:ENSG00000197776 euGenes: HUgn122773
    ECgene: KLHDC1 H-InvDB: KLHDC1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for KLHDC1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for KLHDC1 gene:
    Search GeneIP for patents involving KLHDC1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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