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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

KLHDC10 Gene

protein-coding   GIFtS: 48
GCID: GC07P129710

Kelch Domain Containing 10

  Search for KLHDC10
at  

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

Aliases
Kelch Domain Containing 101 2     Scruin Like At The Midline Homolog2
Scruin Like At The Midline Homolog (Drosophila)1     slim2
PNAS-1192     KIAA02653
Kelch Domain-Containing Protein 102     

External Ids:    HGNC: 221941   Entrez Gene: 230082   Ensembl: ENSG000001286077   OMIM: 6151525   UniProtKB: Q6PID83   

Export aliases for KLHDC10 gene to outside databases

Previous GC identifers: GC07P129498 GC07P124072


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

GeneCards Summary for KLHDC10 Gene: 
KLHDC10 (kelch domain containing 10) 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000007.13  NT_007933.15  NC_018918.2  NT_079596.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the KLHDC10 gene promoter:
         Max1   GATA-1   AREB6   Max   CBF-A   CBF-B   STAT3   c-Myc   CBF(2)   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 3): KLHDC10 promoter sequence
   Search SABiosciences Chromatin IP Primers for KLHDC10

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat KLHDC10


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

Entrez Gene cytogenetic band: 7q32.2   Ensembl cytogenetic band:  7q32.2   HGNC cytogenetic band: 7q32.2

KLHDC10 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KLHDC10 gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07P129710:  view genomic region     (about GC identifiers)

Start:
129,710,349 bp from pter      End:
129,775,560 bp from pter
Size:
65,212 bases      Orientation:
plus strand

1 alternative location:
Chr7+,CRA_TCAG 129,095,715-129,160,935     

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: KLD10_HUMAN, Q6PID8 (See protein sequence)
Recommended Name: Kelch domain-containing protein 10  
Size: 442 amino acids; 49098 Da
Developmental stage: Expressed in fetal brain, liver, lung, kidney and placenta
Sequence caution: Sequence=BAA13395.1; Type=Erroneous initiation;
Secondary accessions: Q86Y99 Q92554
Alternative splicing: 2 isoforms:  Q6PID8-1   Q6PID8-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for KLHDC10: NX_Q6PID8

Explore proteomics data for KLHDC10 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q6PID8

  • KLHDC10 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    KLHDC10 Protein Expression
    REFSEQ proteins: NP_055812.1  
    ENSEMBL proteins: 
     ENSP00000334140   ENSP00000420083   ENSP00000420034  

    Human Recombinant Protein Products for KLHDC10: 
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    Cloud-Clone Corp. Proteins for KLHDC10 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--
    GO:0005737cytoplasm IEA--

    KLHDC10 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    2 InterPro protein domains:
     IPR006652 Kelch_1
     IPR015915 Kelch-typ_b-propeller

    Graphical View of Domain Structure for InterPro Entry Q6PID8

    ProtoNet protein and cluster: Q6PID8

    UniProtKB/Swiss-Prot: KLD10_HUMAN, Q6PID8
    Similarity: Contains 6 Kelch repeats


    KLHDC10 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

         Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
         
    KLHDC10 for ontologies           About GeneDecksing


    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for KLHDC10 
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    SwitchGear 3'UTR luciferase reporter plasmidKLHDC10 3' UTR sequence
    Inhib. RNA
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    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for KLHDC10

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

    5/289 Interacting proteins for KLHDC10 (Q6PID83 ENSP000003341404) via UniProtKB, MINT, STRING, and/or I2D (see all 289)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HIST1H4AP628053I2D: score=1 
    HIST1H4BP628053I2D: score=1 
    HIST1H4CP628053I2D: score=1 
    HIST1H4DP628053I2D: score=1 
    HIST1H4EP628053I2D: score=1 
    About this table

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for KLHDC10 (KLD10)

    Search CenterWatch for drugs/clinical trials and news about KLHDC10 / KLD10

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for KLHDC10 gene: 
    NM_014997.3  

    Unigene Cluster for KLHDC10:

    Kelch domain containing 10
    Hs.520710  [show with all ESTs]
    Unigene Representative Sequence: NM_014997
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000335420(uc003vpj.2 uc003vpk.2 uc010lmb.2) ENST00000463413
    ENST00000468226 ENST00000495724
    miRNA
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    8/95 QIAGEN miScript miRNA Assays for microRNAs that regulate KLHDC10 (see all 95):
    hsa-miR-548j hsa-miR-579 hsa-miR-26a-2* hsa-miR-200a hsa-miR-877* hsa-miR-3142 hsa-miR-4325 hsa-miR-383
    SwitchGear 3'UTR luciferase reporter plasmidKLHDC10 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat KLHDC10
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat KLHDC10

    Additional mRNA sequence: 

    AF268385.1 AF277175.1 AF277177.1 BC009977.2 BC036464.2 BC044884.1 D87454.1 

    7 DOTS entries:

    DT.316710  DT.97806266  DT.92432685  DT.95079754  DT.40253332  DT.95079753  DT.95218936 

    24/270 AceView cDNA sequences (see all 270):

    BQ787670 AA418990 BM674591 BU146480 BM090987 AI969301 D87454 AA468745 
    AA829417 AA468765 AI927546 BQ425753 AI146839 BU184054 BQ581723 AA769540 
    CK822145 BQ268309 AA703195 AA831130 AI825557 BF478100 BQ436702 W72688 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for KLHDC10    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11
    SP1:              -                                                         
    SP2:                                                                        
    SP3:              -     -                                                   


    ECgene alternative splicing isoforms for KLHDC10

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    KLHDC10 expression in normal human tissues (normalized intensities)      KLHDC10 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CCATATGATC
    KLHDC10 Expression
    About this image


    KLHDC10 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/5 selected tissues (see all 5) fully expand
     
     Testis (Reproductive System)
             sperm   
     
     Trophoblast (Extraembryonic Tissues)
             Mural Trophectoderm Cells Mural Trophectoderm
     
     Ovary (Reproductive System)
             oocyte   
     
     Bone (Muscoskeletal System)
             mandibular prominence tissue e10.0   
     
     Head Mesenchyme (Muscoskeletal System)
             mandibular prominence tissue e10.0   

    See KLHDC10 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for KLHDC10

    SOURCE GeneReport for Unigene cluster: Hs.520710
        SABiosciences Custom PCR Arrays for KLHDC10
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    In Situ
    Assay Products:
     

     
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    (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)
    About This Section

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

    Orthologs for KLHDC10 gene from 8/17 species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Klhdc101 , 5 kelch domain containing 101, 5 90.96(n)1
    97.27(a)1
      6 (12.52 cM)5
    767881  NM_029742.21  NP_084018.11 
     304018685 
    chicken
    (Gallus gallus)
    Aves KLHDC101 kelch domain containing 10 80.89(n)
    89.72(a)
      427683  XM_425257.3  XP_425257.2 
    lizard
    (Anolis carolinensis)
    Reptilia KLHDC106
    Uncharacterized protein
    84(a)
    1 ↔ 1
    GL343708.1(195433-221102)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.213262 Xenopus laevis transcribed sequence with weak similarity more 78.81(n)    BX843490.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc556632 hypothetical protein MGC55663 77.77(n)   393231  BC048880.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta slim1 scruin like at the midline 49.34(n)
    43.75(a)
      37121  NM_079058.2  NP_523782.1 
    worm
    (Caenorhabditis elegans)
    Secernentea CELE_Y67H2A.21 Protein Y67H2A.2 45.2(n)
    34.98(a)
      178286  NM_001047591.2  NP_001041056.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes KEL26
    KEL16
    Protein that functions in a complex with Kel1p to ...
    Protein required for proper cell fusion and cell m...
    9(a)
    6(a)
    many ↔ many
    many ↔ many
    VII(966039-968687)
    VIII(413685-417179)


    ENSEMBL Gene Tree for KLHDC10 (if available)
    TreeFam Gene Tree for KLHDC10 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for KLHDC10 gene
    KLHDC22  KLHDC32  HCFC12  KLHDC12  LZTR12  RABEPK2  HCFC22  

    KLHDC10 for paralogs           About GeneDecksing



    (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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1223 SNPs in KLHDC10 are shown (see all 1223)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1441359501,2
    --129708361(+) GATTAC/TAGACA 1 -- us2k10--------
    rs127069151,2
    C,F--129708425(+) CCCAGT/CTGATT 1 -- us2k1 tfbs39Minor allele frequency- C:0.21NA CSA WA EA 370
    rs1883252091,2
    --129708432(+) GATTAA/CTTAAA 1 -- us2k10--------
    rs1914198311,2
    --129708449(+) TACTTA/GAGAAT 1 -- us2k10--------
    rs1836902451,2
    --129708550(+) TAGCCA/GGAGCA 1 -- us2k10--------
    rs102701181,2
    C,F--129708671(+) AAACAT/AGTAAA 1 -- us2k12Minor allele frequency- A:0.25NA WA 4
    rs1887610851,2
    --129708740(+) CACCTA/GTAATC 1 -- us2k10--------
    rs1123038321,2
    C,F--129708886(+) GCTACC/TTGGGA 1 -- us2k11Minor allele frequency- T:0.00WA 2
    rs102578921,2
    C,F--129708971(+) gtctcG/Agcgac 1 -- us2k14Minor allele frequency- A:0.16NA WA 124
    rs3683282561,2
    C--129708994(+) CGTCTA/CAAAAA 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for KLHDC10 (129710349 - 129775560 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for KLHDC10:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv366394CNV Loss16902084
    nsv510968CNV Complex20534489

    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing KLHDC10
    DNA2.0 Custom Variant and Variant Library Synthesis for KLHDC10

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    KLHDC10 for disorders           About MalaCards
    OMIM gene information: 615152    OMIM disorders: --


    KLHDC10 for disorders           About GeneDecksing

    Genetic Association Database (GAD): KLHDC10

    Export disorders for KLHDC10 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)
    About This Section

    PubMed articles for KLHDC10 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with KLHDC10)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Human chromosome 7: DNA sequence and biology. (PubMed id 12690205)1, 2 Scherer S.W.... Tsui L.-C. (2003)
    2. Prediction of the coding sequences of unidentified human genes. VI. The coding sequences of 80 new genes (KIAA0201-KIAA0280) deduced by analysis of cDNA clones from cell line KG-1 and brain. (PubMed id 9039502)1, 2 Nagase T....Nomura N. (1996)
    3. The Kelch repeat protein KLHDC10 regulates oxidative s tress-induced ASK1 activation by suppressing PP5. (PubMed id 23102700)1 Sekine Y....Ichijo H. (2012)
    4. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
    5. Network organization of the human autophagy system. (PubMed id 20562859)1 Behrends C....Harper J.W. (2010)
    6. Dynamics of cullin-RING ubiquitin ligase network revea led by systematic quantitative proteomics. (PubMed id 21145461)1 Bennett E.J....Harper J.W. (2010)
    7. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S....Malek J. (2004)
    8. Imprinting analysis of 10 genes and/or transcripts in a 1.5-Mb MEST- flanking region at human chromosome 7q32. (PubMed id 14962666)2 Yamada T.... Kishino T. (2004)
    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. (2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 23008 HGNC: 22194 AceView: KIAA0265 Ensembl:ENSG00000128607 euGenes: HUgn23008
    ECgene: KLHDC10 H-InvDB: KLHDC10

    (According to HUGE)
    About This Section
    HUGE: KIAA0265

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for KLHDC10 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for KLHDC10 gene:
    Search GeneIP for patents involving KLHDC10

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



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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