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Aliases for KLHL7 Gene

Aliases for KLHL7 Gene

  • Kelch-Like Family Member 7 2 3
  • Kelch-Like 7 (Drosophila) 2
  • Retinitis Pigmentosa 42 2
  • Kelch-Like Protein 7 3
  • Kelch-Like 6 3
  • Kelch-Like 7 3
  • Kelch/BTB 3
  • SBBI26 3
  • KLHL6 3
  • RP42 6

External Ids for KLHL7 Gene

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. 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

Genomic Location for KLHL7 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for KLHL7 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KLHL7 Gene

Regulatory Elements 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

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys261, Lys517, and Lys560

No data available for DME Specific Peptides for KLHL7 Gene

Domains for KLHL7 Gene

Gene Families for KLHL7 Gene

HGNC:
  • BTBD :BTB/POZ domain containing
  • KLHL :Kelch-like

Graphical View of Domain Structure for InterPro Entry

Q8IXQ5

UniProtKB/Swiss-Prot:

KLHL7_HUMAN
Domain:
  • Contains 1 BACK (BTB/Kelch associated) domain.:
    • Q8IXQ5
  • Contains 1 BTB (POZ) domain.:
    • Q8IXQ5
Similarity:
  • Contains 6 Kelch repeats.:
    • Q8IXQ5
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:0005515 protein binding IPI 21828050
GO:0042802 identical protein binding IPI 21828050
GO:0042803 protein homodimerization activity IDA 21828050
genes like me logo Genes that share ontologies with KLHL7: view

miRNA for KLHL7 Gene

miRTarBase miRNAs that target KLHL7

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , Transcription Factor Targeting 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 4
cytosol 3

Gene Ontology (GO) - Cellular Components for KLHL7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA --
GO:0005654 nucleoplasm IDA --
GO:0005730 nucleolus IDA --
GO:0005737 cytoplasm IDA --
GO:0005886 plasma membrane IDA --
genes like me logo Genes that share ontologies with KLHL7: view

Pathways 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 --
genes like me logo Genes that share ontologies with KLHL7: view

No data available for Pathways by source for KLHL7 Gene

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 (4.9).

Integrated Proteomics: protein expression 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 expressions with KLHL7: view

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
chimpanzee
(Pan troglodytes)
Mammalia KLHL7 35
  • 99.77 (n)
  • 100 (a)
KLHL7 36
  • 100 (a)
OneToOne
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
oppossum
(Monodelphis domestica)
Mammalia KLHL7 36
  • 92 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KLHL7 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Klhl7 35
  • 89.53 (n)
  • 97.95 (a)
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
African clawed frog
(Xenopus laevis)
Amphibia Xl.7658 35
tropical clawed frog
(Silurana tropicalis)
Amphibia klhl7 35
  • 80.42 (n)
  • 97.03 (a)
Str.1353 35
zebrafish
(Danio rerio)
Actinopterygii KLHL7 36
  • 59 (a)
OneToOne
zgc63520 35
zgc:63520 35
  • 70.01 (n)
  • 82.66 (a)
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 MAF
rs1468 -- 23,164,031(-) TCCCT(A/G)CAATA intron-variant
rs15775 -- 23,125,082(-) ATCCA(A/G)CAAAG reference, synonymous-codon, nc-transcript-variant
rs706013 -- 23,175,077(-) TTTAC(C/T)TTTTG utr-variant-3-prime, nc-transcript-variant
rs764533 -- 23,114,256(+) ACATA(C/T)GACTG intron-variant
rs764534 -- 23,114,316(+) TTTGG(C/T)TTATC intron-variant

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

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

(1) OMIM Diseases for KLHL7 Gene (611119)

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.

(1) University of Copenhagen DISEASES for KLHL7 Gene

Relevant External Links for KLHL7

Genetic Association Database (GAD)
KLHL7
genes like me logo Genes that share disorders with KLHL7: view

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
  2. Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PMID: 11230166) Wiemann S. … Poustka A. (Genome Res. 2001) 3 4
  3. The DNA sequence of human chromosome 7. (PMID: 12853948) Hillier L.W. … Wilson R.K. (Nature 2003) 3 4
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4

Products for KLHL7 Gene

  • Addgene plasmids for KLHL7

Sources for KLHL7 Gene

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