Property Summary

NCBI Gene PubMed Count 16
PubMed Score 8.18
PubTator Score 9.11

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (16)

Disease log2 FC p
Multiple myeloma 1.034 4.7e-02
malignant mesothelioma 1.100 1.0e-05
psoriasis -1.600 2.8e-04
glioblastoma 2.700 4.8e-06
posterior fossa group A ependymoma 1.500 1.5e-06
group 4 medulloblastoma 2.500 7.7e-06
atypical teratoid / rhabdoid tumor 1.900 6.6e-06
medulloblastoma, large-cell 1.900 1.6e-06
primitive neuroectodermal tumor 2.100 9.1e-05
adrenocortical carcinoma 1.047 1.9e-02
non-small cell lung cancer 1.630 4.0e-15
intraductal papillary-mucinous neoplasm ... 1.500 1.2e-02
lung cancer 1.800 2.2e-03
pediatric high grade glioma 2.500 7.7e-08
pilocytic astrocytoma 1.600 3.7e-07
ovarian cancer -2.000 4.4e-06

Gene RIF (6)

PMID Text
22084217 The phenotypes are similar among patients with 3 types of KLHL7 mutations (c.458C>T, c.449G>A, and c.457G>A).
22082156 Knockdown of kelch-like 7 (Drosophila) by siRNA enhances the early stages of HIV-1 replication in HeLa-CD4 cells infected with viral pseudotypes HIV89.6R and HIV8.2N
21828050 KLHL7 forms a dimer, assembles with Cul3 through its BTB and BACK domains, and exerts E3 activity.
20547956 Observed in 2 Scandinavian families to date, KLHL7 mutation has recently been associated with autosomal dominant retinitis pigmentosa.
19520207 Mutations in a BTB-Kelch protein, KLHL7, cause autosomal-dominant retinitis pigmentosa.
16918702 The present results indicate that KLHL7 antibodies are associated with various cancers, and in some patients also with neurological disease. Whether KLHL7 antibodies can be used as paraneoplastic markers for PNS remains to be determined.

AA Sequence

MAASGVEKSSKKKTEKKLAAREEAKLLAGFMGVMNNMRKQKTLCDVILMVQERKIPAHRVVLAAASHFFN      1 - 70
LMFTTNMLESKSFEVELKDAEPDIIEQLVEFAYTARISVNSNNVQSLLDAANQYQIEPVKKMCVDFLKEQ     71 - 140
VDASNCLGISVLAECLDCPELKATADDFIHQHFTEVYKTDEFLQLDVKRVTHLLNQDTLTVRAEDQVYDA    141 - 210
AVRWLKYDEPNRQPFMVDILAKVRFPLISKNFLSKTVQAEPLIQDNPECLKMVISGMRYHLLSPEDREEL    211 - 280
VDGTRPRRKKHDYRIALFGGSQPQSCRYFNPKDYSWTDIRCPFEKRRDAACVFWDNVVYILGGSQLFPIK    281 - 350
RMDCYNVVKDSWYSKLGPPTPRDSLAACAAEGKIYTSGGSEVGNSALYLFECYDTRTESWHTKPSMLTQR    351 - 420
CSHGMVEANGLIYVCGGSLGNNVSGRVLNSCEVYDPATETWTELCPMIEARKNHGLVFVKDKIFAVGGQN    421 - 490
GLGGLDNVEYYDIKLNEWKMVSPMPWKGVTVKCAAVGSIVYVLAGFQGVGRLGHILEYNTETDKWVANSK    491 - 560
VRAFPVTSCLICVVDTCGANEETLET                                                561 - 586
//

Text Mined References (17)

PMID Year Title
27392078 2016 Bi-allelic Mutations in KLHL7 Cause a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa.
23676014 2013 Update on the Kelch-like (KLHL) gene family.
22084217 2011 Phenotypic characterization of 3 families with autosomal dominant retinitis pigmentosa due to mutations in KLHL7.
21828050 2011 Ubiquitin ligase activity of Cul3-KLHL7 protein is attenuated by autosomal dominant retinitis pigmentosa causative mutation.
20547956 2010 Phenotype associated with mutation in the recently identified autosomal dominant retinitis pigmentosa KLHL7 gene.
19520207 2009 Mutations in a BTB-Kelch protein, KLHL7, cause autosomal-dominant retinitis pigmentosa.
18029348 2008 Toward a confocal subcellular atlas of the human proteome.
17974005 2007 The full-ORF clone resource of the German cDNA Consortium.
16918702 2006 Detection of autoantibodies to the BTB-kelch protein KLHL7 in cancer sera.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12853948 2003 The DNA sequence of human chromosome 7.
12690205 2003 Human chromosome 7: DNA sequence and biology.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11256614 2000 Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing.
11230166 2001 Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs.
9847074 1998 Toward a complete human genome sequence.