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

KLHDC8A Gene

protein-coding   GIFtS: 46
GCID: GC01M205305

Kelch Domain Containing 8A

  Search for KLHDC8A
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 8A1 2
Substitute For Delta-EGFR Expression 12 3
S-delta-E12 3
Kelch Domain-Containing Protein 8A2

External Ids:    HGNC: 255731   Entrez Gene: 552202   Ensembl: ENSG000001628737   OMIM: 6145035   UniProtKB: Q8IYD23   

Export aliases for KLHDC8A gene to outside databases

Previous GC identifers: GC01M202038 GC01M203571 GC01M176471


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

Entrez Gene summary for KLHDC8A Gene:
This gene encodes a kelch domain-containing protein which is upregulated in cancer. Upregulated expression of the
encoded protein may provide an alternative pathway for tumors to maintain aggressiveness in the absence of
epidermal growth factor receptor dependence. Alternative splicing results in multiple transcript variants.
(provided by RefSeq, Dec 2012)

GeneCards Summary for KLHDC8A Gene: 
KLHDC8A (kelch domain containing 8A) is a protein-coding gene. An important paralog of this gene is GAN.




(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_000001.10  NC_018912.2  NT_004487.19  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the KLHDC8A gene promoter:
         HOXA9B   HOXA9   Nkx2-2   GCNF   Meis-1b   Nkx6-1   GCNF-1   GCNF-2   LyF-1   Meis-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidKLHDC8A promoter sequence
   Search SABiosciences Chromatin IP Primers for KLHDC8A

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat KLHDC8A


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

Entrez Gene cytogenetic band: 1q32.1   Ensembl cytogenetic band:  1q32.1   HGNC cytogenetic band: 1q32.1

KLHDC8A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KLHDC8A gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M205305:  view genomic region     (about GC identifiers)

Start:
205,305,220 bp from pter      End:
205,326,218 bp from pter
Size:
20,999 bases      Orientation:
minus strand

(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: KLD8A_HUMAN, Q8IYD2 (See protein sequence)
Recommended Name: Kelch domain-containing protein 8A  
Size: 350 amino acids; 38859 Da
Secondary accessions: B3KU70 Q9NVG5

Explore the universe of human proteins at neXtProt for KLHDC8A: NX_Q8IYD2

Explore proteomics data for KLHDC8A at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q8IYD2

  • KLHDC8A Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    KLHDC8A Protein Expression
    REFSEQ proteins (4 alternative transcripts): 
    NP_001258792.1  NP_001258793.1  NP_001258794.1  NP_060673.1  

    ENSEMBL proteins: 
     ENSP00000356123   ENSP00000356124   ENSP00000475871   ENSP00000475745   ENSP00000475902  
     ENSP00000475290   ENSP00000475334   ENSP00000475955   ENSP00000443447   ENSP00000442229  

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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 Q8IYD2

    ProtoNet protein and cluster: Q8IYD2

    1 Blocks protein domain: IPB006651 Kelch repeat signature

    UniProtKB/Swiss-Prot: KLD8A_HUMAN, Q8IYD2
    Similarity: Contains 7 Kelch repeats


    KLHDC8A 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 ----
         
    KLHDC8A for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for KLHDC8A:
     Increased gamma-H2AX phosphory 

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for KLHDC8A 
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    SwitchGear 3'UTR luciferase reporter plasmidKLHDC8A 3' UTR sequence
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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 KLHDC8A

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    1 Interacting protein for KLHDC8A (ENSP000003561234) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HDAC7ENSP000000800594STRING: ENSP00000080059
    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 KLHDC8A (KLD8A)

    Search CenterWatch for drugs/clinical trials and news about KLHDC8A / KLD8A

    (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 KLHDC8A gene (4 alternative transcripts): 
    NM_001271863.1  NM_001271864.1  NM_001271865.1  NM_018203.2  

    Unigene Cluster for KLHDC8A:

    Kelch domain containing 8A
    Hs.10414  [show with all ESTs]
    Unigene Representative Sequence: NM_001271863
    13 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000367155(uc001hcf.1 uc010prg.1) ENST00000367156(uc001hcg.1)
    ENST00000460687 ENST00000606181 ENST00000607826 ENST00000607173 ENST00000491471
    ENST00000606887 ENST00000606111 ENST00000606529 ENST00000607193 ENST00000537168
    ENST00000539253
    miRNA
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    8/14 QIAGEN miScript miRNA Assays for microRNAs that regulate KLHDC8A (see all 14):
    hsa-miR-301b hsa-miR-4289 hsa-miR-876-5p hsa-miR-128 hsa-miR-3681* hsa-miR-301a hsa-miR-218 hsa-miR-759
    SwitchGear 3'UTR luciferase reporter plasmidKLHDC8A 3' UTR sequence
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat KLHDC8A
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat KLHDC8A

    Additional mRNA sequence: 

    AK001610.1 AK096590.1 AK299227.1 BC036076.1 

    6 DOTS entries:

    DT.100017397  DT.412212  DT.100685343  DT.121454981  DT.100713874  DT.100751652 

    24/80 AceView cDNA sequences (see all 80):

    F08992 CR593027 BF939563 CR618248 CB141613 BE220757 AW139401 R56283 
    AL519859 CB054762 AA908205 Z39616 BF447914 BM712830 F08996 F11332 
    BM716664 AI918283 BE747964 AK096590 AA993639 BE393803 AL539257 AK001610 

    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™, 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

    KLHDC8A expression in normal human tissues (normalized intensities)      KLHDC8A embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGTGATGGGG
    KLHDC8A Expression
    About this image


    KLHDC8A expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/6 selected tissues (see all 6) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Midbrain tegmentum
             Fetal Neuronal Stem Cells (NSC)   
     
     Adrenal Gland (Endocrine System)
             gland/adrenal gland/cortex   
     
     Neural Tube (Nervous System)
             Metencephalon
     
     Eye (Sensory Organs)
             GABAergic Amacrine Cells Inner Nuclear Layer
     
     Heart (Cardiovascular System)

    See KLHDC8A Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for KLHDC8A

    SOURCE GeneReport for Unigene cluster: Hs.10414
        SABiosciences Custom PCR Arrays for KLHDC8A
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KLHDC8A

    (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.

    Orthologs for KLHDC8A gene from 6/13 species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Klhdc8a1 , 5 kelch domain containing 8A1, 5 89.24(n)1
    95.71(a)1
      1 (57.24 cM)5
    2134171  NM_144810.51  NP_659059.11 
     1322986265 
    chicken
    (Gallus gallus)
    Aves KLHDC8A1 kelch domain containing 8A 79.43(n)
    84.57(a)
      419829  XM_417963.3  XP_417963.3 
    lizard
    (Anolis carolinensis)
    Reptilia KLHDC8A6
    Uncharacterized protein
    83(a)
    1 ↔ 1
    4(115902973-115919124)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.1082 Transcribed sequence with moderate similarity to protein more 76.28(n)    BG348571.1 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC7942581 kelch domain-containing protein 8A-like 60.73(n)
    56.03(a)
      794258  XM_001334158.3  XP_001334194.3 
    worm
    (Caenorhabditis elegans)
    Secernentea C53A5.96
    C53A5.116
    (see all 6)
    Protein C53A5.11
    (see all 6)
    13(a)
    11(a)
    (see all 6)
    many ↔ many
    many ↔ many
    (see all 6)
    V(14557038-14558866)
    V(14562565-14564639)


    ENSEMBL Gene Tree for KLHDC8A (if available)
    TreeFam Gene Tree for KLHDC8A (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for KLHDC8A gene
    GAN2  KLHDC8B2  IVNS1ABP2  
    1 SIMAP similar gene for KLHDC8A using alignment to 2 protein entries:     KLD8A_HUMAN (see all proteins):
    KLHDC8B

    KLHDC8A 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

    10/567 SNPs in KLHDC8A are shown (see all 567)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs121293831,2
    C,F,H--205304699(+) TCCAGT/CTGCTA 4 -- ds500111Minor allele frequency- C:0.18NS EA NA WA 784
    rs1823627311,2
    --205304766(+) CTAATG/TCACAG 4 -- ds50010--------
    rs618230931,2
    C,F--205304806(+) CCTCCA/GGCTCC 4 -- ds50014Minor allele frequency- G:0.32NA EA 244
    rs1857371061,2
    --205304952(+) AAATGC/TTGGGC 4 -- ds50010--------
    rs109004791,2
    C,F,A,H--205305048(+) TGTAAA/CGACCC 4 -- ds500118Minor allele frequency- C:0.15NS EA NA WA CSA 2223
    rs1894743151,2
    --205305053(+) AGACCA/CAGGTT 4 -- ds50010--------
    rs741408831,2
    C,F--205305263(+) TAACTG/CGGAGT 4 -- ut313Minor allele frequency- C:0.10WA CSA 122
    rs1427979011,2
    --205305391(+) CTGAGA/CTGCTG 4 -- ut310--------
    rs109004801,2
    C,F,A,H--205305449(+) AAGAAC/TATGTG 4 -- ut31 ese39Minor allele frequency- T:0.20NS EA WA NA CSA 653
    rs1402049081,2
    --205305500(+) AAGGCA/GGAGCT 4 -- ut310--------

    HapMap Linkage Disequilibrium report for KLHDC8A (205305220 - 205326218 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for KLHDC8A:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv873113CNV Loss21882294
    nsv832381CNV Gain17160897

    SABiosciences Cancer Mutation PCR Assays
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    (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

    KLHDC8A for disorders           About MalaCards
    OMIM gene information: 614503    OMIM disorders: --


    KLHDC8A for disorders           About GeneDecksing


    Export disorders for KLHDC8A 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 KLHDC8A gene integrated from 9 sources:
    (articles sorted by number of sources associating them with KLHDC8A)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. 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. (2004)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    3. Functional dissection of lysine deacetylases reveals t hat HDAC1 and p300 regulate AMPK. (PubMed id 22318606)1 Lin Y.Y....Boeke J.D. (2012)
    4. Mutant EGFR is required for maintenance of glioma gro wth in vivo, and its ablation leads to escape from receptor dependence. (PubMed id 20133782)1 Mukasa A....Furnari F. (2010)
    5. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PubMed id 17207965)1 Lamesch P.... Vidal M. (2007)
    6. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)2 Gregory S.G.... Bentley D.R. (2006)
    7. 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)
    About This Section
     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)
    About This Section
    Entrez Gene: 55220 HGNC: 25573 AceView: FLJ10748 Ensembl:ENSG00000162873 euGenes: HUgn55220
    ECgene: KLHDC8A H-InvDB: KLHDC8A

    (According to HUGE)
    About This Section
      --

    (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 KLHDC8A 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 KLHDC8A gene:
    Search GeneIP for patents involving KLHDC8A

    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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