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KLHDC8A Gene

protein-coding   GIFtS: 45
GCID: GC01M205305

Kelch Domain Containing 8A

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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 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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000001.10  NT_004487.20  NC_018912.2  
Regulatory elements:
   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 Chromatin IP Primers for KLHDC8A

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 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: 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


See KLHDC8A Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

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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antibodies-online proteins for KLHDC8A (4 products) 

 
antibodies-online peptides for KLHDC8A

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antibodies-online antibodies for KLHDC8A (20 products) 

KLHDC8A Assay Products:

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antibodies-online kits for KLHDC8A (4 products) 


(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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3 InterPro protein domains:
 IPR011043 Gal_Oxase/kelch_b-propeller
 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


Find genes that share domains with KLHDC8A           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 KLHDC8A           About GenesLikeMe


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

Animal Models:
   genOway: Develop your customized and physiologically relevant rodent model for KLHDC8A

miRNA
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Selected qRT-PCR 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
Inhib. RNA
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Predesigned siRNA for gene silencing in human, mouse, rat KLHDC8A

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Sino Biological Human cDNA Clone for KLHDC8A
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Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat KLHDC8A

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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 COMPARTMENTS: 

CompartmentConfidence
cytosol2
nucleus2
cytoskeleton1
endoplasmic reticulum1
mitochondrion1
peroxisome1

(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 KLHDC8A
Interactions:

    Search GeneGlobe Interaction Network 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
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(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 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,
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 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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Selected qRT-PCR 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
Inhib. RNA
Products:
     
OriGene RNAi products in human, mouse, rat for KLHDC8A
Predesigned siRNA for gene silencing in human, mouse, rat KLHDC8A
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GenScript: all cDNA clones in your preferred vector: KLHDC8A (NM_018203)
DNA2.0 Custom Codon Optimized Gene Synthesis Service for KLHDC8A
Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat KLHDC8A
Primer
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OriGene qPCR primer pairs and template standards for KLHDC8A
OriGene qSTAR qPCR primer pairs in human, mouse for KLHDC8A
Pre-validated RT2 qPCR Primer Assay in human, mouse, rat KLHDC8A
  QuantiTect SYBR Green Assays in human, mouse, rat KLHDC8A
  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 

Selected AceView cDNA sequences (see all 80):

F08992 BM716664 BE220757 CB054762 Z39616 AW139401 BM712830 AA908205 
BF447914 BF939563 AL519859 AI918283 F08996 CR618248 F11332 CB141613 
CR593027 R56283 AI424639 BX282212 AI458684 BX461700 BX643653 BF732685 

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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KLHDC8A expression in normal human tissues (normalized intensities)
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
 selected tissues (see all 6) fully expand
 
 Brain (Nervous System)    fully expand to see all 3 entries
         Midbrain tegmentum
 
 Neurons
         GABAergic Amacrine Cells Inner Nuclear Layer
 
 Neural Tube (Nervous System)
         Metencephalon
 
 Eye (Sensory Organs)
         GABAergic Amacrine Cells Inner Nuclear Layer
 
 Heart (Cardiovascular System)
KLHDC8A Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

KLHDC8A Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.10414
    Custom PCR Arrays for KLHDC8A
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OriGene qPCR primer pairs and template standards 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)
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This gene was present in the common ancestor of animals.

Orthologs for KLHDC8A gene from Selected 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 89.14(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 79.33(n)
84.57(a)
  419829  XM_004934932.1  XP_004934989.1 
lizard
(Anolis carolinensis)
Reptilia KLHDC8A6
kelch domain containing 8A
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_001334158.4  XP_001334194.3 
worm
(Caenorhabditis elegans)
Secernentea C53A5.116
C53A5.96
(see all 3)
Protein C53A5.9 (C53A5.9) mRNA, complete cds
(see all 3)
16(a)
13(a)
(see all 3)
many ↔ many
many ↔ many
(see all 3)
V(14562565-14564639) WBGene00008269
V(14557038-14558866) WBGene00008267


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)
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Paralogs for KLHDC8A gene
GAN2  KLHDC8B2  KLHL72  IPP2  IVNS1ABP2  
9 SIMAP similar genes for KLHDC8A using alignment to 8 protein entries:     KLD8A_HUMAN (see all proteins):
KLHDC8B    IVNS1ABP    KLHL18    KLHL2    KLHL20    KLHL3
KLHL5    KLHL21    KLHL33

Find genes that share paralogs with KLHDC8A           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 KLHDC8A (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

Site Specific Mutation Identification with PCR Assays
SeqTarget long-range PCR primers for resequencing KLHDC8A
DNA2.0 Custom Variant and Variant Library Synthesis for KLHDC8A

(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: 614503    OMIM disorders: --


Find genes that share disorders with KLHDC8A           About GenesLikeMe


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)
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PubMed articles for KLHDC8A gene integrated from 10 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. (Genome Res. 2004)
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
  3. Mutant EGFR is required for maintenance of glioma growth in vivo, and its ablation leads to escape from receptor dependence. (PubMed id 20133782)1 Mukasa A....Furnari F. (Proc. Natl. Acad. Sci. U.S.A. 2010)
  4. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PubMed id 17207965)1 Lamesch P.... Vidal M. (Genomics 2007)
  5. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)2 Gregory S.G.... Bentley D.R. (Nature 2006)
  6. 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)

(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: 55220 HGNC: 25573 AceView: FLJ10748 Ensembl:ENSG00000162873 euGenes: HUgn55220
ECgene: KLHDC8A H-InvDB: KLHDC8A

(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 KLHDC8A 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 KLHDC8A gene:
Search GeneIP for patents involving KLHDC8A

GeneCards and IP:
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(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from genOway)
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 Block miRNA regulation of human, mouse, rat KLHDC8A using miScript Target Protectors SeqTarget long-range PCR primers for resequencing KLHDC8A
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 Novus Tissue Slides
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 antibodies-online proteins for KLHDC8A (4 products)
       
GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014 , 7 Oct 2014

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