Property Summary

NCBI Gene PubMed Count 44
Grant Count 36
R01 Count 34
Funding $3,379,523.79
PubMed Score 49.69
PubTator Score 63.70

Knowledge Summary

Patent

No data available

Expression

Gene RIF (34)

PMID Text
26190014 We explain the phenotypic findings associated with mutations in KIF21A
24656932 This study demonistrated that the interaction between Kif21a and Map1b is likely to play a critical role in the pathogenesis of CFEOM1 and highlights a selective vulnerability of the developing oculomotor nerve to perturbations of the axon cytoskeleton.
24426772 Germline mosaicism of KIF21A c.2860C>T is likely to cause the high occurrence of this mutation in the population.
24120883 CFEOM1-associated mutations relieve autoinhibition of the KIF21A motor, and this results in enhanced KIF21A accumulation in axonal growth cones, aberrant axon morphology, and reduced responsiveness to inhibitory cues.
23535681 Congenital fibrosis of extraocular muscle assciated with KIF21A mutation.
22968744 The data of this study suggested that KIF21A gene expression could have a role on the axonal transport and the development of the nervous system with implications on the resulting phenotype of subjects with Down syndrome.
22552340 Expression of RRP1B, PCNT, KIF21A and ADRB2 in leucocytes of Down's syndrome subjects, was analyzed.
22465342 The diffuse and widespread expression of KIF21A in the developing human and mouse central and peripheral nervous system as well as in extraocular muscle does not account for the restricted ocular phenotype observed in Congenital fibrosis of the extraocular muscles type 1.
22442075 This study indicated that KIF21A-mediated axonal transport and selective somatodendritic endocytosis underlie the axonal polarized surface expression of NCKX2.
21983718 This Chinese family with congenital fibrosis of the extraocular muscles type I(CFEOM1) may be caused by a c.2860C to T mutation in the KIF21A gene.
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AA Sequence

MLGAPDESSVRVAVRIRPQLAKEKIEGCHICTSVTPGEPQVFLGKDKAFTFDYVFDIDSQQEQIYIQCIE      1 - 70
KLIEGCFEGYNATVFAYGQTGAGKTYTMGTGFDVNIVEEELGIISRAVKHLFKSIEEKKHIAIKNGLPAP     71 - 140
DFKVNAQFLELYNEEVLDLFDTTRDIDAKSKKSNIRIHEDSTGGIYTVGVTTRTVNTESEMMQCLKLGAL    141 - 210
SRTTASTQMNVQSSRSHAIFTIHVCQTRVCPQIDADNATDNKIISESAQMNEFETLTAKFHFVDLAGSER    211 - 280
LKRTGATGERAKEGISINCGLLALGNVISALGDKSKRATHVPYRDSKLTRLLQDSLGGNSQTIMIACVSP    281 - 350
SDRDFMETLNTLKYANRARNIKNKVMVNQDRASQQINALRSEITRLQMELMEYKTGKRIIDEEGVESIND    351 - 420
MFHENAMLQTENNNLRVRIKAMQETVDALRSRITQLVSDQANHVLARAGEGNEEISNMIHSYIKEIEDLR    421 - 490
AKLLESEAVNENLRKNLTRATARAPYFSGSSTFSPTILSSDKETIEIIDLAKKDLEKLKRKEKRKKKRLQ    491 - 560
KLEESNREERSVAGKEDNTDTDQEKKEEKGVSERENNELEVEESQEVSDHEDEEEEEEEEEDDIDGGESS    561 - 630
DESDSESDEKANYQADLANITCEIAIKQKLIDELENSQKRLQTLKKQYEEKLMMLQHKIRDTQLERDQVL    631 - 700
QNLGSVESYSEEKAKKVRSEYEKKLQAMNKELQRLQAAQKEHARLLKNQSQYEKQLKKLQQDVMEMKKTK    701 - 770
VRLMKQMKEEQEKARLTESRRNREIAQLKKDQRKRDHQLRLLEAQKRNQEVVLRRKTEEVTALRRQVRPM    771 - 840
SDKVAGKVTRKLSSSDAPAQDTGSSAAAVETDASRTGAQQKMRIPVARVQALPTPATNGNRKKYQRKGLT    841 - 910
GRVFISKTARMKWQLLERRVTDIIMQKMTISNMEADMNRLLKQREELTKRREKLSKRREKIVKENGEGDK    911 - 980
NVANINEEMESLTANIDYINDSISDCQANIMQMEEAKEEGETLDVTAVINACTLTEARYLLDHFLSMGIN    981 - 1050
KGLQAAQKEAQIKVLEGRLKQTEITSATQNQLLFHMLKEKAELNPELDALLGHALQDLDSVPLENVEDST   1051 - 1120
DEDAPLNSPGSEGSTLSSDLMKLCGEVKPKNKARRRTTTQMELLYADSSELASDTSTGDASLPGPLTPVA   1121 - 1190
EGQEIGMNTETSGTSAREKELSPPPGLPSKIGSISRQSSLSEKKIPEPSPVTRRKAYEKAEKSKAKEQKH   1191 - 1260
SDSGTSEASLSPPSSPPSRPRNELNVFNRLTVSQGNTSVQQDKSDESDSSLSEVHRSSRRGIINPFPASK   1261 - 1330
GIRAFPLQCIHIAEGHTKAVLCVDSTDDLLFTGSKDRTCKVWNLVTGQEIMSLGGHPNNVVSVKYCNYTS   1331 - 1400
LVFTVSTSYIKVWDIRDSAKCIRTLTSSGQVTLGDACSASTSRTVAIPSGENQINQIALNPTGTFLYAAS   1401 - 1470
GNAVRMWDLKRFQSTGKLTGHLGPVMCLTVDQISSGQDLIITGSKDHYIKMFDVTEGALGTVSPTHNFEP   1471 - 1540
PHYDGIEALTIQGDNLFSGSRDNGIKKWDLTQKDLLQQVPNAHKDWVCALGVVPDHPVLLSGCRGGILKV   1541 - 1610
WNMDTFMPVGEMKGHDSPINAICVNSTHIFTAADDRTVRIWKARNLQDGQISDTGDLGEDIASN         1611 - 1674
//

Text Mined References (57)

PMID Year Title
26496610 2015 A human interactome in three quantitative dimensions organized by stoichiometries and abundances.
26190014 2015 A rare case of congenital fibrosis of extraocular muscle type 1A due to KIF21A mutation with Marcus Gunn jaw-winking phenomenon.
24715754 2014 A novel de novo KIF21A mutation in a patient with congenital fibrosis of the extraocular muscles and Möbius syndrome.
24656932 2014 Human CFEOM1 mutations attenuate KIF21A autoinhibition and cause oculomotor axon stalling.
24426772 2014 Maternal germline mosaicism of kinesin family member 21A (KIF21A) mutation causes complex phenotypes in a Chinese family with congenital fibrosis of the extraocular muscles.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
24120883 2013 CFEOM1-associated kinesin KIF21A is a cortical microtubule growth inhibitor.
23535681 2013 Congenital fibrosis of extraocular muscle type 1A due to KIF21A mutation: first case report from Hong Kong.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
22968744 2013 KIF21A mRNA expression in patients with Down syndrome.
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