Property Summary

NCBI Gene PubMed Count 44
PubMed Score 49.69
PubTator Score 63.70

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (5)

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.
21805025 KIF21A novel deletion and recurrent mutation have been fonund in Chinese patients with congenital fibrosis of the extraocular muscles-1.
21264235 patients with congenital fibrosis of the extraocular muscles type I patients from consanguineous Saudi Arabian families do not have KIF21A mutations
21042561 The observation of these two KIF21A mutations in a Chinese pedigree underscores the homogeneity of these mutations as a cause of congenital fibrosis of the extraocular muscles CFEOM1 and CFEOM3 across ethnic divisions.
19896199 Parental germline mosaicism can mimic recessive inheritance in congenital fibrosis of the extraocular muscles (CFEOM) and likely is underrecognized.
19852579 Our 16-patient sample suggests that KIF21A and PHOX2A sequence variation does not have a role in common forms of congenital incomitant vertical strabismus.
19559006 These results suggest that KIF21A regulates the distribution of Kank1 and that KIF21A mutations associated with congenital fibrosis of the extraocular muscles type 1 enhanced the accumulation of Kank1 in the membrane fraction.
19551685 The patients had marked restriction of movement bilaterally with nearly complete loss of vertical ocular motility, graded reduction of horizontal motility, ptosis, and compensatory chin elevation.
19165527 Using shotgun mass spectrometry, we found this protein differentially expressed in the dorsolateral prefrontal cortex from patients with schizophrenia.
19020088 Overexpression of full-length KIF21A and BIG1 and their fragments in HEK293 cells followed by reciprocal IP revealed that the C-terminal tail of KIF21A, with seven WD-40 repeats, may interact with structure in the C-terminal region of BIG1.
18363169 The finding of R954W mutation in the historically isolated population of the Arabian Peninsula confirms that R954 is a "hotspot" for KIF21A mutation.
18332320 The novel KIF21A mutation 84C>G demonstrated in a CFEOM1 family affects the kinesin motor domain, supporting that mutations may also occur outside the commonly involved coiled-coil domain.
18323871 No KIF21A nucleotide change was found in any patients with congenital superior oblique muscle palsy
17511870 All three new mutations alter amino acids in heptad repeats within the third coiled-coil region of the KIF21A stalk, highlighting the importance of alterations in this domain in the etiology of Congenital fibrosis of the extraocular muscles types 1 and 3.
16939002 mutation p.Arg954Trp of the KIF21A is the genetic basis of the congenital fibrosis of the extraocular muscles type 1
16365788 Mutations of the KIF21A gene contribute to the development of CFEOM1 regardless of ethnicity.
16157808 This report introduces a new CFEOM1 (congenital fibrosis of the extraocular muscles) KIF21A mutation and is, to our knowledge, the first report of a genetic defect associated with Marcus Gunn jaw-winking.
15827546 CFEOM (congenital fibrosis of the extraocular muscles) is present in Chinese populations. Both CFEOM1 and CFEOM3 can be caused by the same mutation at the KIF21A gene.
15671279 Orbital imaging in CFEOM1 due to various amino acid substitutions in the kinesin KIF21A demonstrates consistent abnormalities of motor and sensory innervation in the orbit.
15621877 Mutation in cpg island of KIF21A is associated with congenital fibrosis of the extraocular muscles patients
15621876 Observational study of genotype prevalence. (HuGE Navigator)
15621876 Mutation in KIF21A is associated with congenital fibrosis of the extraocular muscles patients
15223798 The results demonstrate that KIF21A mutations are a rare cause of CFEOM3 (congenital fibrosis of the extraocular muscles)
14595441 Heterozygous mutations of the kinesin KIF21A is associated with congenital fibrosis of the extraocular muscles type 1
12702216 Surgery is effective at improving ptosis in the majority of patients with classic CFEOM (congenital fibiosis of the extraocular muscles).

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.
22814378 2012 N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB.
22552340 2012 Gene expression profiling and qRT-PCR expression of RRP1B, PCNT, KIF21A and ADRB2 in leucocytes of Down's syndrome subjects.
22465342 Spatiotemporal expression pattern of KIF21A during normal embryonic development and in congenital fibrosis of the extraocular muscles type 1 (CFEOM1).
22442075 2012 KIF21A-mediated axonal transport and selective endocytosis underlie the polarized targeting of NCKX2.
22223895 2012 Comparative large scale characterization of plant versus mammal proteins reveals similar and idiosyncratic N-?-acetylation features.
21983718 2011 [Mutation analysis of KIF21A gene in a Chinese family with congenital fibrosis of the extraocular muscles type I].
21805025 2011 KIF21A novel deletion and recurrent mutation in patients with congenital fibrosis of the extraocular muscles-1.
21406692 2011 System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.
21269460 2011 Initial characterization of the human central proteome.
21264235 2011 Lack of KIF21A mutations in congenital fibrosis of the extraocular muscles type I patients from consanguineous Saudi Arabian families.
21042561 2010 KIF21A mutations in two Chinese families with congenital fibrosis of the extraocular muscles (CFEOM).
20068231 2010 Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.
19896199 2010 Germline Mosaicism for KIF21A Mutation (p.R954L) Mimicking Recessive Inheritance for Congenital Fibrosis of the Extraocular Muscles.
19852579 2009 Mutations in KIF21A and PHOX2A are absent in 16 patients with congenital vertical incomitant strabismus.
19690332 2009 Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.
19559006 2009 A major mutation of KIF21A associated with congenital fibrosis of the extraocular muscles type 1 (CFEOM1) enhances translocation of Kank1 to the membrane.
19551685 KIF21A variant R954W in familial or sporadic cases of CFEOM1.
19413330 2009 Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.
19165527 2009 Prefrontal cortex shotgun proteome analysis reveals altered calcium homeostasis and immune system imbalance in schizophrenia.
19020088 2008 Interaction of brefeldin A-inhibited guanine nucleotide-exchange protein (BIG) 1 and kinesin motor protein KIF21A.
18669648 2008 A quantitative atlas of mitotic phosphorylation.
18363169 2008 Congential fibrosis of the extraocular muscles type I (CFEOM1) on the Arabian Peninsula.
18332320 2008 Novel and recurrent KIF21A mutations in congenital fibrosis of the extraocular muscles type 1 and 3.
18323871 2008 Clinical features, ARIX and PHOX2B nucleotide changes in three families with congenital superior oblique muscle palsy.
17974005 2007 The full-ORF clone resource of the German cDNA Consortium.
17511870 2007 Three novel mutations in KIF21A highlight the importance of the third coiled-coil stalk domain in the etiology of CFEOM1.
17081983 2006 Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.
16939002 2006 Mutation p.Arg954Trp of KIF21A causes congenital fibrosis of the extraocular muscles in a Chinese family.
16541075 2006 The finished DNA sequence of human chromosome 12.
16365788 Recurrent mutation of the KIF21A gene in Japanese patients with congenital fibrosis of the extraocular muscles.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
16157808 2005 A novel KIF21A mutation in a patient with congenital fibrosis of the extraocular muscles and Marcus Gunn jaw-winking phenomenon.
15827546 2005 KIF21A gene c.2860C>T mutation in congenital fibrosis of extraocular muscles type 1 and 3.
15671279 2005 Magnetic resonance imaging evidence for widespread orbital dysinnervation in congenital fibrosis of extraocular muscles due to mutations in KIF21A.
15621877 2004 Mutation analysis of the KIF21A gene in an Indian family with CFEOM1: implication of CpG methylation for most frequent mutations.
15621876 2004 Mutation analysis of KIF21A in congenital fibrosis of the extraocular muscles (CFEOM) patients.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15223798 2004 Identification of KIF21A mutations as a rare cause of congenital fibrosis of the extraocular muscles type 3 (CFEOM3).
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
14595441 2003 Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1).
12702216 2003 Clinical and surgical data of affected members of a classic CFEOM I family.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11214970 2000 Prediction of the coding sequences of unidentified human genes. XIX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.
10508479 1999 Antigens recognized by autologous antibody in patients with renal-cell carcinoma.
10225949 1999 Novel dendritic kinesin sorting identified by different process targeting of two related kinesins: KIF21A and KIF21B.
9734811 1998 Prediction of the coding sequences of unidentified human genes. X. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro.
8075644 1994 Mapping a gene for congenital fibrosis of the extraocular muscles to the centromeric region of chromosome 12.