Free for academic non-profit institutions. Other users need a Commercial license

Aliases for KLHL7 Gene

Aliases for KLHL7 Gene

  • Kelch Like Family Member 7 2 3 5
  • Kelch-Like Family Member 7 3
  • Kelch-Like 7 (Drosophila) 2
  • Retinitis Pigmentosa 42 2
  • Kelch-Like 6 3
  • Kelch-Like 7 3
  • Kelch/BTB 3
  • SBBI26 3
  • KLHL6 3

External Ids for KLHL7 Gene

Previous GeneCards Identifiers for KLHL7 Gene

  • GC00U991218
  • GC07P022888
  • GC07P022918
  • GC07P023111
  • GC07P023029
  • GC07P023145

Summaries for KLHL7 Gene

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 and identical protein binding. An important paralog of this gene is GAN.

UniProtKB/Swiss-Prot for KLHL7 Gene

  • 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KLHL7 Gene

Genomics for KLHL7 Gene

Regulatory Elements for KLHL7 Gene

Enhancers for KLHL7 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around KLHL7 on UCSC Golden Path with GeneCards custom track

Promoters for KLHL7 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around KLHL7 on UCSC Golden Path with GeneCards custom track

Genomic Location for KLHL7 Gene

Chromosome:
7
Start:
23,105,734 bp from pter
End:
23,177,914 bp from pter
Size:
72,181 bases
Orientation:
Plus strand

Genomic View for KLHL7 Gene

Genes around KLHL7 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KLHL7 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KLHL7 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KLHL7 Gene

Proteins for KLHL7 Gene

  • Protein details for KLHL7 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8IXQ5-KLHL7_HUMAN
    Recommended name:
    Kelch-like protein 7
    Protein Accession:
    Q8IXQ5
    Secondary Accessions:
    • A4D144
    • B7Z5I9
    • G5E9G3
    • Q7Z765
    • Q96MV2
    • Q9BQF8
    • Q9UDQ9

    Protein attributes for KLHL7 Gene

    Size:
    586 amino acids
    Molecular mass:
    65992 Da
    Quaternary structure:
    • Homodimer. Component of the BCR(KLHL7) E3 ubiquitin ligase complex, at least composed of CUL3 and KLHL7 and RBX1.

    Three dimensional structures from OCA and Proteopedia for KLHL7 Gene

    Alternative splice isoforms for KLHL7 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for KLHL7 Gene

Proteomics data for KLHL7 Gene at MOPED

Post-translational modifications for KLHL7 Gene

  • Ubiquitination at Lys 261, Lys 517, and Lys 560
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Santa Cruz Biotechnology (SCBT) Antibodies for KLHL7

No data available for DME Specific Peptides for KLHL7 Gene

Domains & Families for KLHL7 Gene

Gene Families for KLHL7 Gene

Graphical View of Domain Structure for InterPro Entry

Q8IXQ5

UniProtKB/Swiss-Prot:

KLHL7_HUMAN :
  • Contains 1 BACK (BTB/Kelch associated) domain.
  • Contains 6 Kelch repeats.
Domain:
  • Contains 1 BACK (BTB/Kelch associated) domain.
  • Contains 1 BTB (POZ) domain.
Similarity:
  • Contains 6 Kelch repeats.
genes like me logo Genes that share domains with KLHL7: view

Function for KLHL7 Gene

Molecular function for KLHL7 Gene

UniProtKB/Swiss-Prot 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) - Molecular Function for KLHL7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004842 contributes_to ubiquitin-protein transferase activity IBA --
GO:0042803 protein homodimerization activity IDA 21828050
genes like me logo Genes that share ontologies with KLHL7: view
genes like me logo Genes that share phenotypes with KLHL7: view

Human Phenotype Ontology for KLHL7 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for KLHL7 Gene

Localization for KLHL7 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KLHL7 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for KLHL7 Gene COMPARTMENTS Subcellular localization image for KLHL7 gene
Compartment Confidence
nucleus 5
plasma membrane 5
cytosol 4

Gene Ontology (GO) - Cellular Components for KLHL7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005730 nucleolus IDA --
GO:0005737 cytoplasm IDA --
genes like me logo Genes that share ontologies with KLHL7: view

Pathways & Interactions for KLHL7 Gene

SuperPathways for KLHL7 Gene

No Data Available

UniProtKB/Swiss-Prot Q8IXQ5-KLHL7_HUMAN

  • Pathway: Protein modification; protein ubiquitination.

Gene Ontology (GO) - Biological Process for KLHL7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016567 protein ubiquitination IEA,IDA 21828050
genes like me logo Genes that share ontologies with KLHL7: view

No data available for Pathways by source and SIGNOR curated interactions for KLHL7 Gene

Drugs & Compounds for KLHL7 Gene

No Compound Related Data Available

Transcripts for KLHL7 Gene

Unigene Clusters for KLHL7 Gene

Kelch-like family member 7:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for KLHL7 Gene

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: - - -
SP6:
SP7:
SP8:

Relevant External Links for KLHL7 Gene

GeneLoc Exon Structure for
KLHL7
ECgene alternative splicing isoforms for
KLHL7

Expression for KLHL7 Gene

mRNA expression in normal human tissues for KLHL7 Gene

mRNA differential expression in normal tissues according to GTEx for KLHL7 Gene

This gene is overexpressed in Heart - Left Ventricle (x4.9).

Protein differential expression in normal tissues from HIPED for KLHL7 Gene

This gene is overexpressed in Testis (50.2) and Ovary (10.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for KLHL7 Gene



SOURCE GeneReport for Unigene cluster for KLHL7 Gene Hs.654817

mRNA Expression by UniProt/SwissProt for KLHL7 Gene

Q8IXQ5-KLHL7_HUMAN
Tissue specificity: Widely expressed, with highest levels in adult and fetal heart, CNS and adult testis.
genes like me logo Genes that share expression patterns with KLHL7: view

Protein tissue co-expression partners for KLHL7 Gene

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for KLHL7 Gene

Orthologs for KLHL7 Gene

This gene was present in the common ancestor of chordates.

Orthologs for KLHL7 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia KLHL7 35
  • 93.97 (n)
  • 99.66 (a)
KLHL7 36
  • 100 (a)
OneToOne
dog
(Canis familiaris)
Mammalia KLHL7 35
  • 94.49 (n)
  • 99.81 (a)
KLHL7 36
  • 100 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Klhl7 35
  • 91.24 (n)
  • 97.78 (a)
Klhl7 16
Klhl7 36
  • 98 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia KLHL7 35
  • 99.77 (n)
  • 100 (a)
KLHL7 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Klhl7 35
  • 89.53 (n)
  • 97.95 (a)
oppossum
(Monodelphis domestica)
Mammalia KLHL7 36
  • 92 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KLHL7 36
  • 99 (a)
OneToOne
chicken
(Gallus gallus)
Aves KLHL7 35
  • 84.98 (n)
  • 98.12 (a)
KLHL7 36
  • 98 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia KLHL7 36
  • 97 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia klhl7 35
  • 80.42 (n)
  • 97.03 (a)
Str.1353 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.7658 35
zebrafish
(Danio rerio)
Actinopterygii zgc63520 35
zgc:63520 35
  • 70.01 (n)
  • 82.66 (a)
KLHL7 36
  • 59 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5646 36
  • 27 (a)
OneToOne
Species with no ortholog for KLHL7:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for KLHL7 Gene

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

Paralogs for KLHL7 Gene

Paralogs for KLHL7 Gene

genes like me logo Genes that share paralogs with KLHL7: view

Variants for KLHL7 Gene

Sequence variations from dbSNP and Humsavar for KLHL7 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
VAR_060672 Retinitis pigmentosa 42 (RP42)
VAR_060673 Retinitis pigmentosa 42 (RP42)
VAR_060674 Retinitis pigmentosa 42 (RP42)
VAR_060675 -
VAR_060676 -

Structural Variations from Database of Genomic Variants (DGV) for KLHL7 Gene

Variant ID Type Subtype PubMed ID
nsv7393 OTHER Inversion 18451855
nsv526131 CNV Loss 19592680
nsv524486 CNV Gain 19592680
nsv8070 CNV Loss 18304495
nsv437539 CNV Loss 16327808
nsv516984 CNV Loss 19592680
nsv437540 CNV Loss 16327808
esv29260 CNV Loss 19812545

Variation tolerance for KLHL7 Gene

Residual Variation Intolerance Score: 10.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.58; 12.51% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for KLHL7 Gene

HapMap Linkage Disequilibrium report
KLHL7
Human Gene Mutation Database (HGMD)
KLHL7

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KLHL7 Gene

Disorders for KLHL7 Gene

MalaCards: The human disease database

(4) MalaCards diseases for KLHL7 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
retinitis pigmentosa 42
  • rp42
klhl7-related retinitis pigmentosa
  • retinitis pigmentosa 42
retinitis pigmentosa
  • retinitis pigmentosa 1
retinitis
- elite association - COSMIC cancer census association via MalaCards
Search KLHL7 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

KLHL7_HUMAN
  • 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. {ECO:0000269 PubMed:19520207, ECO:0000269 PubMed:20547956, ECO:0000269 PubMed:22084217}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for KLHL7

Genetic Association Database (GAD)
KLHL7
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KLHL7
genes like me logo Genes that share disorders with KLHL7: view

No data available for Genatlas for KLHL7 Gene

Publications for KLHL7 Gene

  1. Mutations in a BTB-Kelch protein, KLHL7, cause autosomal-dominant retinitis pigmentosa. (PMID: 19520207) Friedman J.S. … Swaroop A. (Am. J. Hum. Genet. 2009) 2 3 4 67
  2. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  3. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein M.Y. … Mann M. (Cell 2015) 3
  4. Update on the Kelch-like (KLHL) gene family. (PMID: 23676014) Dhanoa B.S. … Friedman J.S. (Hum. Genomics 2013) 3
  5. Insights into RNA biology from an atlas of mammalian mRNA-binding proteins. (PMID: 22658674) Castello A. … Hentze M.W. (Cell 2012) 3

Products for KLHL7 Gene

Sources for KLHL7 Gene

Content