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KLHL7 Gene

protein-coding   GIFtS: 53
GCID: GC07P023145

Kelch-Like Family Member 7

(Previous name: kelch-like 7 (Drosophila))
  See KLHL7-related diseases
at  

(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-Like Family Member 71 2     Kelch-Like 62
Kelch-Like 7 (Drosophila)1     Kelch-Like 72
Retinitis Pigmentosa 421     Kelch-Like Protein 72
KLHL62     kelch/BTB2
SBBI262     RP425

External Ids:    HGNC: 156461   Entrez Gene: 559752   Ensembl: ENSG000001225507   OMIM: 6111195   UniProtKB: Q8IXQ53   

Export aliases for KLHL7 gene to outside databases

Previous GC identifers: GC00U991218 GC07P022888 GC07P022918 GC07P023111 GC07P023029


(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 KLHL7 Gene:
This gene encodes a BTB-Kelch-related protein. The encoded protein may be involved in protein degradation.
Mutations in this gene have been associated with retinitis pigmentosa 42. (provided by RefSeq, Feb 2010)

GeneCards Summary for KLHL7 Gene:
KLHL7 (kelch-like family member 7) is a protein-coding gene. Diseases associated with KLHL7 include retinitis pigmentosa 42, and klhl7-related retinitis pigmentosa. GO annotations related to this gene include protein homodimerization activity. An important paralog of this gene is GAN.

UniProtKB/Swiss-Prot: KLHL7_HUMAN, Q8IXQ5
Function: Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin ligase complex. The BCR(KLHL7) complex
acts by mediating ubiquitination and subsequent degradation of substrate proteins. Probably mediates
'Lys-48'-linked ubiquitination

Gene Wiki entry for KLHL7 Gene


(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_000007.13  NT_007819.18  NC_018918.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the KLHL7 gene promoter:
         ER-alpha   Pax-2   Pax-2a   C/EBPalpha   CREB   SRY   Pax-2b   FOXO4   deltaCREB   ATF6   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 3): KLHL7 promoter sequence
   Search Chromatin IP Primers for KLHL7

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat KLHL7


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

Entrez Gene cytogenetic band: 7p15.3   Ensembl cytogenetic band:  7p15.3   HGNC cytogenetic band: 7p15.3

KLHL7 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KLHL7 gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07P023145:  view genomic region     (about GC identifiers)

Start:
23,145,353 bp from pter      End:
23,217,533 bp from pter
Size:
72,181 bases      Orientation:
plus strand

1 alternative location:
Chr7+,CRA_TCAG 23,197,216-23,266,913     

(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, LSBio, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: KLHL7_HUMAN, Q8IXQ5 (See protein sequence)
Recommended Name: Kelch-like protein 7  
Size: 586 amino acids; 65992 Da
Subunit: Homodimer. Component of the BCR(KLHL7) E3 ubiquitin ligase complex, at least composed of CUL3 and KLHL7
and RBX1
1 PDB 3D structure from and Proteopedia for KLHL7:
3II7 (3D)    
Secondary accessions: A4D144 B7Z5I9 G5E9G3 Q7Z765 Q96MV2 Q9BQF8 Q9UDQ9
Alternative splicing: 5 isoforms:  Q8IXQ5-1   Q8IXQ5-2   Q8IXQ5-3   Q8IXQ5-4   Q8IXQ5-5   (Variant in position: 18:K->R (in dbSNP:rs17147682))

Explore the universe of human proteins at neXtProt for KLHL7: NX_Q8IXQ5

Explore proteomics data for KLHL7 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys261, Lys517, Lys560
  • Modification sites at PhosphoSitePlus

  • See KLHL7 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001026880.2  NP_001165899.1  NP_061334.4  

    ENSEMBL proteins: 
     ENSP00000430351   ENSP00000343273   ENSP00000323270   ENSP00000386263   ENSP00000386999  
     ENSP00000404181   ENSP00000322958   ENSP00000442366   ENSP00000446445   ENSP00000441136  
     ENSP00000442367  

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    Cloud-Clone Corp. Proteins for KLHL7

     
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    antibodies-online proteins for KLHL7 

     
    antibodies-online peptides for KLHL7

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    antibodies-online antibodies for KLHL7 (18 products) 

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    BTBD: BTB/POZ domain containing
    KLHL: Kelch-like

    Selected InterPro protein domains (see all 7):
     IPR006652 Kelch_1
     IPR011333 BTB/POZ_fold
     IPR017096 Kelch-like_gigaxonin-typ
     IPR013069 BTB_POZ
     IPR011705 BACK

    Graphical View of Domain Structure for InterPro Entry Q8IXQ5

    ProtoNet protein and cluster: Q8IXQ5

    2 Blocks protein domains:
    IPB000210 BTB/POZ domain
    IPB011705 BTB/Kelch-associated


    UniProtKB/Swiss-Prot: KLHL7_HUMAN, Q8IXQ5
    Similarity: Contains 1 BACK (BTB/Kelch associated) domain
    Similarity: Contains 1 BTB (POZ) domain
    Similarity: Contains 6 Kelch repeats


    Find genes that share domains with KLHL7           About GenesLikeMe


    (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,
    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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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: KLHL7_HUMAN, Q8IXQ5
    Function: Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin ligase complex. The BCR(KLHL7) complex
    acts by mediating ubiquitination and subsequent degradation of substrate proteins. Probably mediates
    'Lys-48'-linked ubiquitination

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
    GO:0042803protein homodimerization activity IDA--
         
    Find genes that share ontologies with KLHL7           About GenesLikeMe


    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for KLHL7
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    Block miRNA regulation of human, mouse, rat KLHL7 using miScript Target Protectors
    3 qRT-PCR Assays for microRNAs that regulate KLHL7:
    hsa-miR-1271 hsa-miR-3121-3p hsa-miR-96
    SwitchGear 3'UTR luciferase reporter plasmidKLHL7 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat KLHL7

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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
    KLHL7_HUMAN, Q8IXQ5: Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    plasma membrane4
    cytosol3

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm IDA--
    GO:0005886plasma membrane IDA--
    GO:0031463Cul3-RING ubiquitin ligase complex IDA--

    Find genes that share ontologies with KLHL7           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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    UniProtKB/Swiss-Prot: KLHL7_HUMAN, Q8IXQ5
    Pathway: Protein modification; protein ubiquitination

        Pathway & Disease-focused RT2 Profiler PCR Array including KLHL7: 

              Ubiquitin Ligases in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for KLHL7

    STRING Interaction Network Preview (showing 5 interactants - click image to see 13)

    Selected Interacting proteins for KLHL7 (Q8IXQ53 ENSP000003432734) via UniProtKB, MINT, STRING, and/or I2D (see all 14)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    AXIN2Q9Y2T13I2D: score=1 
    CUL3ENSP000002644144STRING: ENSP00000264414
    KLHL12ENSP000003562304STRING: ENSP00000356230
    KLHL13ENSP000002628204STRING: ENSP00000262820
    KLHL3ENSP000003123974STRING: ENSP00000312397
    About this table

    Gene Ontology (GO): 1 biological process term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016567protein ubiquitination IEA--

    Find genes that share ontologies with KLHL7           About GenesLikeMe



    (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 KLHL7



    (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 KLHL7 gene (3 alternative transcripts): 
    NM_001031710.2  NM_001172428.1  NM_018846.4  

    Unigene Cluster for KLHL7:

    Kelch-like family member 7
    Hs.654817  [show with all ESTs]
    Unigene Representative Sequence: NR_033328
    18 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000479288 ENST00000521082 ENST00000339077(uc011jyv.2) ENST00000322275(uc003svp.3 uc003svq.3)
    ENST00000459661 ENST00000491352 ENST00000409689(uc003svt.3) ENST00000410047
    ENST00000479700 ENST00000477076 ENST00000414163 ENST00000469576 ENST00000469845
    ENST00000322231(uc003svr.4 uc003svs.4 uc011jys.2 uc011jyt.2)
    ENST00000545443 ENST00000545771(uc011jyu.2) ENST00000539124 ENST00000542558

    miRNA
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    3 qRT-PCR Assays for microRNAs that regulate KLHL7:
    hsa-miR-1271 hsa-miR-3121-3p hsa-miR-96
    SwitchGear 3'UTR luciferase reporter plasmidKLHL7 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat KLHL7
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      QuantiFast Probe-based Assays in human, mouse, rat KLHL7

    Additional mRNA sequence: 

    AF111113.1 AK055473.1 AK056390.1 AK290479.1 AK296219.1 AK297369.1 AK297421.1 AK297595.1 
    AK299006.1 AK302995.1 AL136597.1 AL834193.1 AY028802.1 BC009555.1 BC039585.1 EF560731.1 
    NR_033328.1 NR_033329.1 

    12 DOTS entries:

    DT.213612  DT.91660250  DT.92427999  DT.95289414  DT.100794817  DT.91669090  DT.91923178  DT.97824868 
    DT.92427992  DT.92428000  DT.40218618  DT.95241522 

    Selected AceView cDNA sequences (see all 170):

    AK056390 BI488615 H99846 BX441117 BM970543 AU252407 AI829079 BI768218 
    AA736498 AI080154 BQ441139 AW517996 AI284488 AI954716 AA431362 AI755080 
    AI423697 BF000829 AI956119 AA478899 NM_018846 CD365119 CF272535 AA432360 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for KLHL7 (see all 8)    About this scheme

    ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b ^ 4a · 4b · 4c ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11a · 11b ^ 12a · 12b ^ 13a · 13b ^ 14a · 14b
    SP1:                                                                    -                                               -     -                     
    SP2:                                                                                                                                                
    SP3:                    -                                                                                                                           
    SP4:                    -     -     -     -     -     -     -     -     -                                                                           
    SP5:                    -     -     -                                                                                                               


    ECgene alternative splicing isoforms for KLHL7

    (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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    KLHL7 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TAAAGCTGTC
    KLHL7 Expression
    About this image

    KLHL7 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    KLHL7 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.654817

    UniProtKB/Swiss-Prot: KLHL7_HUMAN, Q8IXQ5
    Tissue specificity: Widely expressed, with highest levels in adult and fetal heart, CNS and adult testis

        Pathway & Disease-focused RT2 Profiler PCR Array including KLHL7: 
              Ubiquitin Ligases in human mouse rat

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KLHL7

    (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 chordates.

    Orthologs for KLHL7 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Klhl71 , 5 kelch-like 7 (Drosophila)5
    kelch-like 71
    91.24(n)1
    97.78(a)1
      5 (10.67 cM)5
    523231  NM_026448.31  NP_080724.21 
     241005905 
    chicken
    (Gallus gallus)
    Aves KLHL71 kelch-like 7 (Drosophila) 84.98(n)
    98.12(a)
      420612  NM_001012857.1  NP_001012875.1 
    lizard
    (Anolis carolinensis)
    Reptilia KLHL76
    kelch-like family member 7
    97(a)
    1 ↔ 1
    6(30403805-30423384)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.76582 Xenopus laevis transcribed sequence with strong similarity more 81.25(n)    BX843731.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc635202 hypothetical protein MGC63520 72.11(n)   393851  BC063745.1 


    ENSEMBL Gene Tree for KLHL7 (if available)
    TreeFam Gene Tree for KLHL7 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for KLHL7 gene
    GAN2  KLHDC8B2  IPP2  IVNS1ABP2  KLHDC8A2  
    Selected SIMAP similar genes for KLHL7 using alignment to 6 protein entries:     KLHL7_HUMAN (see all proteins) (see all similar genes):
    ZBTB21    ZBTB16    KLHL32    ZBTB14    BTBD3    KBTBD3
    KBTBD4    KBTBD8    MYNN    ZBTB38    ZBTB49    KLHL3
    KLHL28    KLHL20    KEAP1    KLHL17    KLHL18    KLHL29

    Find genes that share paralogs with KLHL7           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 KLHL7 (see all 1486)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0606734
    Retinitis pigmentosa 42 (RP42)4--see VAR_0606732 A T mis40--------
    VAR_0606724
    Retinitis pigmentosa 42 (RP42)4--see VAR_0606722 S N mis40--------
    VAR_0606744
    Retinitis pigmentosa 42 (RP42)4--see VAR_0606742 A V mis40--------
    rs564004411,2
    C--23117160(+) CATGTG/AGTAGG 4 -- us2k18Minor allele frequency- A:0.40WA NA CSA EA 367
    rs1830401601,2
    --23117202(+) TAACAC/GAAGTT 4 -- us2k10--------
    rs1884218011,2
    --23117252(+) TGTTTC/GACTTT 4 -- us2k10--------
    rs1921353751,2
    C--23117316(+) TCTTTC/GAGCTC 4 -- us2k10--------
    rs1831236981,2
    --23117371(+) CAATAC/TGTAAA 4 -- us2k10--------
    rs1497682951,2
    --23117438(+) ATTACA/TGGACA 4 -- us2k10--------
    rs134381791,2
    C,F,H--23117447(+) CAGCAT/CTCTTT 4 -- us2k123Minor allele frequency- C:0.44NS EA NA WA CSA 2264

    HapMap Linkage Disequilibrium report for KLHL7 (23145353 - 23217533 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 8 variations for KLHL7:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv516984CNV Loss19592680
    esv29260CNV Loss19812545
    nsv8070CNV Loss18304495
    nsv526131CNV Loss19592680
    nsv437540CNV Loss16327808
    nsv437539CNV Loss16327808
    nsv524486CNV Gain19592680
    nsv7393OTHER Inversion18451855

    Human Gene Mutation Database (HGMD): KLHL7
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing KLHL7
    DNA2.0 Custom Variant and Variant Library Synthesis for KLHL7

    (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.)
    About This Section

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    OMIM gene information: 611119   
    OMIM disorders: 612943  
    UniProtKB/Swiss-Prot: KLHL7_HUMAN, Q8IXQ5
  • Retinitis pigmentosa 42 (RP42) [MIM:612943]: A retinal dystrophy belonging to the group of pigmentary
    retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination
    and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically
    have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose
    their far peripheral visual field and eventually central vision as well. Note=The disease is caused by mutations
    affecting the gene represented in this entry

  • 5 diseases for KLHL7:    
    About MalaCards
    retinitis pigmentosa 42    klhl7-related retinitis pigmentosa    retinitis    retinitis pigmentosa
    leber congenital amaurosis

    1 disease from the University of Copenhagen DISEASES database for KLHL7:
    Retinitis pigmentosa

    Find genes that share disorders with KLHL7           About GenesLikeMe

    Genetic Association Database (GAD): KLHL7

    Export disorders for KLHL7 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 KLHL7 gene, integrated from 10 sources (see all 26):
    (articles sorted by number of sources associating them with KLHL7)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutations in a BTB-Kelch protein, KLHL7, cause autosomal-dominant retinitis pigmentosa. (PubMed id 19520207)1, 2, 3 Friedman J.S.... Swaroop A. (Am. J. Hum. Genet. 2009)
    2. Phenotypic characterization of 3 families with autosomal dominant retinitis pigmentosa due to mutations in KLHL7. (PubMed id 22084217)1, 2 Wen Y.... Hughbanks-Wheaton D.K. (Arch. Ophthalmol. 2011)
    3. Ubiquitin ligase activity of Cul3-KLHL7 protein is attenuated by autosomal dominant retinitis pigmentosa causative mutation. (PubMed id 21828050)1, 2 Kigoshi Y.... Chiba T. (J. Biol. Chem. 2011)
    4. Phenotype associated with mutation in the recently identified autosomal dominant retinitis pigmentosa KLHL7 gene. (PubMed id 20547956)1, 2 Hugosson T....Andreasson S. (Arch. Ophthalmol. 2010)
    5. Detection of autoantibodies to the BTB-kelch protein KLHL7 in cancer sera. (PubMed id 16918702)1, 2 Bredholt G.... Vedeler C.A. (Scand. J. Immunol. 2006)
    6. 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)
    7. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    8. The DNA sequence of human chromosome 7. (PubMed id 12853948)1, 2 Hillier L.W.... Wilson R.K. (Nature 2003)
    9. Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PubMed id 11230166)1, 2 Wiemann S.... Poustka A. (Genome Res. 2001)
    10. Pathway Analysis of ChIP-Seq-Based NRF1 Target Genes Suggests a Logical Hypothesis of their Involvement in the Pathogenesis of Neurodegenerative Diseases. (PubMed id 24250222)1 Satoh J....Yamamoto Y. (Gene Regul Syst Bio 2013)

    (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)
    About This Section

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    Entrez Gene: 55975 HGNC: 15646 AceView: KLHL7 Ensembl:ENSG00000122550 euGenes: HUgn55975
    ECgene: KLHL7 H-InvDB: KLHL7

    (According to HUGE)
    About This Section

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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)
    About This Section

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    NameDescription
    PharmGKB entry for KLHL7 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for KLHL7 gene:
    Search GeneIP for patents involving KLHL7

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



    (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, LSBio, 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
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