Property Summary

NCBI Gene PubMed Count 20
Grant Count 18
R01 Count 8
Funding $1,095,705.01
PubMed Score 29.13
PubTator Score 26.81

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (1)

Disease log2 FC p
osteosarcoma 1.285 0.006

 GWAS Trait (1)

Gene RIF (11)

PMID Text
26174511 two children who both had two missense mutations in the Kinesin Family Member 7 (KIF7) gene, are reported.
25714560 We identified a Turkish family who had a novel homozygous sequence change, c.2593-2A>C, located at the acceptor splice site of intron 12 of KIF7 (IVS12-2A>C).
25492966 results suggested that PPFIA1 functioned with PP2A to promote the dephosphorylation of Kif7, triggering Kif7 localization to the tips of primary cilia and promoting Gli transcriptional activity.
25265279 Kif7 may contribute to pathogenesis of gestational trophoblastic disease through enhancing survival and promoting dissemination of trophoblasts.
24462444 Studied the ExoS to identify unknown cellular targets associated with ExoS-induced cytotoxicity in a P. aeruginosa infection model.A pull-down assay revealed that ExoS bound the truncated KIF7 gene encoding the N-terminal domain (residues 1-109) of KIF7.
23142271 This study confirms that KIF7 mutations can cause acrocallosal syndrome.
23125460 six novel mutations were identified at the KIF7 locus in five suspected Acrocallosal syndrome cases
22587682 report the first missense homozygous disease-causing mutation in KIF7 and expand the clinical spectrum associated with mutations in this gene to include multiple epiphyseal dysplasia
22281744 The high-resolution structure of the human KIF7 motor domain is reported and is compared with that of conventional kinesin, the founding member of the kinesin superfamily.
21633164 Data report mutations in the KIF7 gene, a known regulator of sonic hedgehog signaling and a putative ciliary motor protein, in Joubert syndrome patients.
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AA Sequence

MGLEAQRLPGAEEAPVRVALRVRPLLPKELLHGHQSCLQVEPGLGRVTLGRDRHFGFHVVLAEDAGQEAV      1 - 70
YQACVQPLLEAFFEGFNATVFAYGQTGSGKTYTMGEASVASLLEDEQGIVPRAMAEAFKLIDENDLLDCL     71 - 140
VHVSYLEVYKEEFRDLLEVGTASRDIQLREDERGNVVLCGVKEVDVEGLDEVLSLLEMGNAARHTGATHL    141 - 210
NHLSSRSHTVFTVTLEQRGRAPSRLPRPAPGQLLVSKFHFVDLAGSERVLKTGSTGERLKESIQINSSLL    211 - 280
ALGNVISALGDPQRRGSHIPYRDSKITRILKDSLGGNAKTVMIACVSPSSSDFDETLNTLNYASRAQNIR    281 - 350
NRATVNWRPEAERPPEETASGARGPPRHRSETRIIHRGRRAPGPATASAAAAMRLGAECARYRACTDAAY    351 - 420
SLLRELQAEPGLPGAAARKVRDWLCAVEGERSALSSASGPDSGIESASVEDQAAQGAGGRKEDEGAQQLL    421 - 490
TLQNQVARLEEENRDFLAALEDAMEQYKLQSDRLREQQEEMVELRLRLELVRPGWGGPRLLNGLPPGSFV    491 - 560
PRPHTAPLGGAHAHVLGMVPPACLPGDEVGSEQRGEQVTNGREAGAELLTEVNRLGSGSSAASEEEEEEE    561 - 630
EPPRRTLHLRRNRISNCSQRAGARPGSLPERKGPELCLEELDAAIPGSRAVGGSKARVQARQVPPATASE    631 - 700
WRLAQAQQKIRELAINIRMKEELIGELVRTGKAAQALNRQHSQRIRELEQEAEQVRAELSEGQRQLRELE    701 - 770
GKELQDAGERSRLQEFRRRVAAAQSQVQVLKEKKQATERLVSLSAQSEKRLQELERNVQLMRQQQGQLQR    771 - 840
RLREETEQKRRLEAEMSKRQHRVKELELKHEQQQKILKIKTEEIAAFQRKRRSGSNGSVVSLEQQQKIEE    841 - 910
QKKWLDQEMEKVLQQRRALEELGEELHKREAILAKKEALMQEKTGLESKRLRSSQALNEDIVRVSSRLEH    911 - 980
LEKELSEKSGQLRQGSAQSQQQIRGEIDSLRQEKDSLLKQRLEIDGKLRQGSLLSPEEERTLFQLDEAIE    981 - 1050
ALDAAIEYKNEAITCRQRVLRASASLLSQCEMNLMAKLSYLSSSETRALLCKYFDKVVTLREEQHQQQIA   1051 - 1120
FSELEMQLEEQQRLVYWLEVALERQRLEMDRQLTLQQKEHEQNMQLLLQQSRDHLGEGLADSRRQYEARI   1121 - 1190
QALEKELGRYMWINQELKQKLGGVNAVGHSRGGEKRSLCSEGRQAPGNEDELHLAPELLWLSPLTEGAPR   1191 - 1260
TREETRDLVHAPLPLTWKRSSLCGEEQGSPEELRQREAAEPLVGRVLPVGEAGLPWNFGPLSKPRRELRR   1261 - 1330
ASPGMIDVRKNPL                                                            1331 - 1343
//

Text Mined References (23)

PMID Year Title
26174511 2015 Novel KIF7 missense substitutions in two patients presenting with multiple malformations and features of acrocallosal syndrome.
25714560 2015 A novel KIF7 mutation in two affected siblings with acrocallosal syndrome.
25492966 2014 The PPFIA1-PP2A protein complex promotes trafficking of Kif7 to the ciliary tip and Hedgehog signaling.
25265279 2014 Downregulation of the gli transcription factors regulator Kif7 facilitates cell survival and migration of choriocarcinoma cells.
24462444 2014 ExoS of Pseudomonas aeruginosa binds to a human KIF7 to induce cytotoxicity in cultured human bronchial epithelial cells.
23251661 2012 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
23142271 2013 Acrocallosal syndrome: identification of a novel KIF7 mutation and evidence for oligogenic inheritance.
23125460 2012 Novel KIF7 mutations extend the phenotypic spectrum of acrocallosal syndrome.
22587682 2012 A mutation in KIF7 is responsible for the autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia and distinctive facial appearance.
22281744 2012 Structural insights into human Kif7, a kinesin involved in Hedgehog signalling.
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