Property Summary

NCBI Gene PubMed Count 11
PubMed Score 2.41
PubTator Score 2.28

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (10)

Gene RIF (2)

PMID Text
20574843 Observational study of gene-disease association. (HuGE Navigator)
20554658 A unique form of early onset autosomal dominant distal myopathy is associated with a kelch-like homologue 9 mutation and interferes with normal skeletal muscle through a novel pathogenetic mechanism.

AA Sequence

MKVSLGNGEMGVSAHLQPCKAGTTRFFTSNTHSSVVLQGFDQLRIEGLLCDVTLVPGDGDEIFPVHRAMM      1 - 70
ASASDYFKAMFTGGMKEQDLMCIKLHGVNKVGLKKIIDFIYTAKLSLNMDNLQDTLEAASFLQILPVLDF     71 - 140
CKVFLISGVSLDNCVEVGRIANTYNLIEVDKYVNNFILKNFPALLSTGEFLKLPFERLAFVLSSNSLKHC    141 - 210
TELELFKAACRWLRLEDPRMDYAAKLMKNIRFPLMTPQDLINYVQTVDFMRTDNTCVNLLLEASNYQMMP    211 - 280
YMQPVMQSDRTAIRSDSTHLVTLGGVLRQQLVVSKELRMYDERAQEWRSLAPMDAPRYQHGIAVIGNFLY    281 - 350
VVGGQSNYDTKGKTAVDTVFRFDPRYNKWMQVASLNEKRTFFHLSALKGHLYAVGGRSAAGELATVECYN    351 - 420
PRMNEWSYVAKMSEPHYGHAGTVYGGLMYISGGITHDTFQNELMCFDPDTDKWMQKAPMTTVRGLHCMCT    421 - 490
VGDKLYVIGGNHFRGTSDYDDVLSCEYYSPTLDQWTPIAAMLRGQSDVGVAVFENKIYVVGGYSWNNRCM    491 - 560
VEIVQKYDPEKDEWHKVFDLPESLGGIRACTLTVFPPEENPGSPSRESPLSAPSDHS                 561 - 617
//

Text Mined References (13)

PMID Year Title
23676014 2013 Update on the Kelch-like (KLHL) gene family.
20574843 2010 Associations of 9p21 variants with cutaneous malignant melanoma, nevi, and pigmentation phenotypes in melanoma-prone families with and without CDKN2A mutations.
20554658 2010 Kelch-like homologue 9 mutation is associated with an early onset autosomal dominant distal myopathy.
19995937 2009 The Cul3-KLHL21 E3 ubiquitin ligase targets aurora B to midzone microtubules in anaphase and is required for cytokinesis.
17974005 2007 The full-ORF clone resource of the German cDNA Consortium.
17543862 2007 A Cul3-based E3 ligase removes Aurora B from mitotic chromosomes, regulating mitotic progression and completion of cytokinesis in human cells.
17113583 2006 Pan-genome isolation of low abundance transcripts using SAGE tag.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
14528312 2003 Targeting of protein ubiquitination by BTB-Cullin 3-Roc1 ubiquitin ligases.
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