Description: Homo sapiens kelch-like family member 7 (KLHL7), transcript variant 1, mRNA. RefSeq Summary (NM_001031710): 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]. Transcript (Including UTRs) Position: hg19 chr7:23,145,353-23,215,038 Size: 69,686 Total Exon Count: 11 Strand: + Coding Region Position: hg19 chr7:23,145,646-23,213,917 Size: 68,272 Coding Exon Count: 11
ID:KLHL7_HUMAN DESCRIPTION: RecName: Full=Kelch-like protein 7; 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. PATHWAY: Protein modification; protein ubiquitination. SUBUNIT: Homodimer. Component of the BCR(KLHL7) E3 ubiquitin ligase complex, at least composed of CUL3 and KLHL7 and RBX1. SUBCELLULAR LOCATION: Nucleus. TISSUE SPECIFICITY: Widely expressed, with highest levels in adult and fetal heart, CNS and adult testis. DISEASE: Defects in KLHL7 are the cause of retinitis pigmentosa type 42 (RP42) [MIM:612943]. A retinal dystrophy belonging to the group of pigmentary retinopathies. RP 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. SIMILARITY: Contains 1 BACK (BTB/Kelch associated) domain. SIMILARITY: Contains 1 BTB (POZ) domain. SIMILARITY: Contains 6 Kelch repeats.
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Genetic Association Studies of Complex Diseases and Disorders
Genetic Association Database (archive): KLHL7 CDC HuGE Published Literature: KLHL7 Positive Disease Associations: Platelet Aggregation Related Studies:
Platelet Aggregation Qiong Yang et al. BMC medical genetics 2007, Genome-wide association and linkage analyses of hemostatic factors and hematological phenotypes in the Framingham Heart Study., BMC medical genetics.
[PubMed 17903294]
Using genome-wide association methodology, we have successfully identified a SNP in complete LD with a sequence variant previously shown to be strongly associated with factor VII, providing proof of principle for this approach. Further study of additional strongly associated SNPs and linked regions may identify novel variants that influence the inter-individual variability in hemostatic factors and hematological phenotypes.
Platelet Aggregation Qiong Yang et al. BMC medical genetics 2007, Genome-wide association and linkage analyses of hemostatic factors and hematological phenotypes in the Framingham Heart Study., BMC medical genetics.
[PubMed 17903294]
Using genome-wide association methodology, we have successfully identified a SNP in complete LD with a sequence variant previously shown to be strongly associated with factor VII, providing proof of principle for this approach. Further study of additional strongly associated SNPs and linked regions may identify novel variants that influence the inter-individual variability in hemostatic factors and hematological phenotypes.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q8IXQ5
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
US Server
