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

KLHL7 Gene

protein-coding   GIFtS: 53
GCID: GC07P023145

Kelch-Like Family Member 7

(Previous name: kelch-like 7 (Drosophila))
  See 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)
About This Section

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

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 klhl7-related retinitis pigmentosa, and pigmentary retinopathy. GO annotations related to this gene include protein homodimerization activity. An important paralog of this gene is KLHL21.

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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000007.13  NC_018918.2  NT_007819.17  NT_079592.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for KLHL7

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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:
23,215,040 bp from pter
Size:
69,688 bases      Orientation:
plus strand

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

(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: 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
Subcellular location: Nucleus
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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q8IXQ5

  • KLHL7 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    KLHL7 Protein Expression
    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 

    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    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--

    KLHL7 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
    HGNC Gene Families: 
    BTBD: BTB/POZ domain containing
    KLHL: Kelch-like

    5/7 InterPro protein domains (see all 7):
     IPR006652 Kelch_1
     IPR011333 BTB/POZ_fold
     IPR017096 Kelch-like_gigaxonin
     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


    KLHL7 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

    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 (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
    GO:0042803protein homodimerization activity IDA--
         
    KLHL7 for ontologies           About GeneDecksing


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    SwitchGear 3'UTR luciferase reporter plasmidKLHL7 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



    UniProtKB/Swiss-Prot: KLHL7_HUMAN, Q8IXQ5
    Pathway: Protein modification; protein ubiquitination

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for KLHL7

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

    5/14 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 (GO ID links to tree view):    About this table

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

    KLHL7 for ontologies           About GeneDecksing



    (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 KLHL7

    Search CenterWatch for drugs/clinical trials and news about 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,
    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 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

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    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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    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 

    24/170 AceView cDNA sequences (see all 170):

    BX441117 CB157248 CB146713 AI080154 Z38380 BX100739 CD365119 AW517996 
    AA478899 BM970543 AI284488 AI956119 AU252407 BM718221 CA945015 BE786124 
    CA424920 AI954716 AA736498 AA432360 AL834193 AW592135 AI829079 AK056390 

    GeneLoc Exon Structure

    5/8 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™, 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

    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


    See KLHL7 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for KLHL7

    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

        SABiosciences Expression via Pathway-Focused PCR Array including KLHL7: 
              Ubiquitin Ligases in human mouse rat

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    In Situ
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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 chordates.

    Orthologs for KLHL7 gene from 5/13 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)1, 5 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
    Uncharacterized protein
    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)
    About This Section
    Paralogs for KLHL7 gene
    KLHL212  KLHL62  KBTBD82  KLHL412  KBTBD122  KLHL242  KBTBD22  ENC12  
    KLHL382  KLHL292  KBTBD32  KLHL232  KLHL402  KBTBD72  KLHL302  KBTBD62  
    KLHL252  KLHL352  
    18/26 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

    KLHL7 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

    10/1486 SNPs in KLHL7 are shown (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--------
    VAR_0606774
    ----see VAR_0606772 K Q mis40--------
    VAR_0606764
    ----see VAR_0606762 H Y mis40--------
    VAR_0606754
    ----see VAR_0606752 D N 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--------

    HapMap Linkage Disequilibrium report for KLHL7 (23145353 - 23215040 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
    SABiosciences Cancer Mutation 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, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    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

  • 6 diseases for KLHL7:    About MalaCards
    klhl7-related retinitis pigmentosa    pigmentary retinopathy    rhyns syndrome    retinitis pigmentosa
    retinitis    blindness

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

    KLHL7 for disorders           About GeneDecksing

    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)
    About This Section

    PubMed articles for KLHL7 gene, integrated from 9 sources (see all 23):
    (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 autoso mal-dominant retinitis pigmentosa. (PubMed id 19520207)1, 2, 3 Friedman J.S....Swaroop A. (2009)
    2. Phenotypic characterization of 3 families with autoso mal dominant retinitis pigmentosa due to mutations in KLHL7. (PubMed id 22084217)1, 2 Wen Y....Hughbanks-Wheaton D.K. (2011)
    3. Ubiquitin ligase activity of Cul3-KLHL7 protein is at tenuated by autosomal dominant retinitis pigmentosa causative mutation. (PubMed id 21828050)1, 2 Kigoshi Y....Chiba T. (2011)
    4. Phenotype associated with mutation in the recently id entified autosomal dominant retinitis pigmentosa KLHL7 gene. (PubMed id 20547956)1, 2 Hugosson T....AndrAcasson S. (2010)
    5. Detection of autoantibodies to the BTB-kelch protein KLHL7 in cancer sera. (PubMed id 16918702)1, 2 Bredholt G.... Vedeler C.A. (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. (2004)
    7. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    8. The DNA sequence of human chromosome 7. (PubMed id 12853948)1, 2 Hillier L.W.... Wilson R.K. (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. (2001)
    10. Methods for quantification of in vivo changes in prote in ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 55975 HGNC: 15646 AceView: KLHL7 Ensembl:ENSG00000122550 euGenes: HUgn55975
    ECgene: KLHL7 H-InvDB: KLHL7

    (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 KLHL7 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 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



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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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