Kinesin-like protein KIF7

NameKinesin-like protein KIF7
Synonyms
Gene NameKIF7
OrganismHuman
Amino acid sequence
>lcl|BSEQ0009167|Kinesin-like protein KIF7
MGLEAQRLPGAEEAPVRVALRVRPLLPKELLHGHQSCLQVEPGLGRVTLGRDRHFGFHVV
LAEDAGQEAVYQACVQPLLEAFFEGFNATVFAYGQTGSGKTYTMGEASVASLLEDEQGIV
PRAMAEAFKLIDENDLLDCLVHVSYLEVYKEEFRDLLEVGTASRDIQLREDERGNVVLCG
VKEVDVEGLDEVLSLLEMGNAARHTGATHLNHLSSRSHTVFTVTLEQRGRAPSRLPRPAP
GQLLVSKFHFVDLAGSERVLKTGSTGERLKESIQINSSLLALGNVISALGDPQRRGSHIP
YRDSKITRILKDSLGGNAKTVMIACVSPSSSDFDETLNTLNYASRAQNIRNRATVNWRPE
AERPPEETASGARGPPRHRSETRIIHRGRRAPGPATASAAAAMRLGAECARYRACTDAAY
SLLRELQAEPGLPGAAARKVRDWLCAVEGERSALSSASGPDSGIESASVEDQAAQGAGGR
KEDEGAQQLLTLQNQVARLEEENRDFLAALEDAMEQYKLQSDRLREQQEEMVELRLRLEL
VRPGWGGPRLLNGLPPGSFVPRPHTAPLGGAHAHVLGMVPPACLPGDEVGSEQRGEQVTN
GREAGAELLTEVNRLGSGSSAASEEEEEEEEPPRRTLHLRRNRISNCSQRAGARPGSLPE
RKGPELCLEELDAAIPGSRAVGGSKARVQARQVPPATASEWRLAQAQQKIRELAINIRMK
EELIGELVRTGKAAQALNRQHSQRIRELEQEAEQVRAELSEGQRQLRELEGKELQDAGER
SRLQEFRRRVAAAQSQVQVLKEKKQATERLVSLSAQSEKRLQELERNVQLMRQQQGQLQR
RLREETEQKRRLEAEMSKRQHRVKELELKHEQQQKILKIKTEEIAAFQRKRRSGSNGSVV
SLEQQQKIEEQKKWLDQEMEKVLQQRRALEELGEELHKREAILAKKEALMQEKTGLESKR
LRSSQALNEDIVRVSSRLEHLEKELSEKSGQLRQGSAQSQQQIRGEIDSLRQEKDSLLKQ
RLEIDGKLRQGSLLSPEEERTLFQLDEAIEALDAAIEYKNEAITCRQRVLRASASLLSQC
EMNLMAKLSYLSSSETRALLCKYFDKVVTLREEQHQQQIAFSELEMQLEEQQRLVYWLEV
ALERQRLEMDRQLTLQQKEHEQNMQLLLQQSRDHLGEGLADSRRQYEARIQALEKELGRY
MWINQELKQKLGGVNAVGHSRGGEKRSLCSEGRQAPGNEDELHLAPELLWLSPLTEGAPR
TREETRDLVHAPLPLTWKRSSLCGEEQGSPEELRQREAAEPLVGRVLPVGEAGLPWNFGP
LSKPRRELRRASPGMIDVRKNPL
Number of residues1343
Molecular Weight150585.79
Theoretical pINone
GO Classification
Functions
    ATP binding
ATPase activity
microtubule motor activity
Processes
    smoothened signaling pathway
negative regulation of smoothened signaling pathway
positive regulation of smoothened signaling pathway
ventricular system development
microtubule-based movement
Components
    cilium
kinesin complex
ciliary tip
General FunctionMicrotubule motor activity
Specific FunctionEssential for hedgehog signaling regulation: acts as both a negative and positive regulator of sonic hedgehog (Shh) and Indian hedgehog (Ihh) pathways, acting downstream of SMO, through both SUFU-dependent and -independent mechanisms (PubMed:21633164). Involved in the regulation of microtubular dynamics. Required for proper organization of the ciliary tip and control of ciliary localization of SUFU-GLI2 complexes (By similarity). Required for localization of GLI3 to cilia in response to Shh. Negatively regulates Shh signaling by preventing inappropriate activation of the transcriptional activator GLI2 in the absence of ligand. Positively regulates Shh signaling by preventing the processing of the transcription factor GLI3 into its repressor form. In keratinocytes, promotes the dissociation of SUFU-GLI2 complexes, GLI2 nuclear translocation and Shh signaling activation (By similarity). Involved in the regulation of epidermal differentiation and chondrocyte development (By similarity).
Transmembrane Regions
GenBank Protein ID
UniProtKB IDQ2M1P5
UniProtKB Entry NameKIF7_HUMAN
Cellular LocationCell projection
Gene sequence
>lcl|BSEQ0013648|Kinesin-like protein KIF7 (KIF7)
ATGGGGCTGGAGGCTCAGAGGCTGCCAGGGGCTGAGGAGGCCCCAGTGCGGGTTGCCCTG
CGAGTTCGACCACTGCTGCCCAAGGAGCTGCTGCACGGGCATCAGAGCTGCCTGCAGGTG
GAGCCAGGGCTTGGCCGCGTCACTCTGGGCCGTGACCGACACTTTGGCTTCCACGTGGTG
CTGGCCGAGGATGCGGGGCAGGAGGCCGTGTACCAGGCCTGCGTTCAGCCCCTCCTTGAG
GCCTTCTTCGAGGGCTTCAATGCCACTGTCTTTGCCTATGGTCAGACGGGCTCAGGGAAG
ACATACACCATGGGGGAGGCCAGTGTGGCCTCCCTCCTTGAGGATGAGCAGGGCATTGTC
CCGAGGGCCATGGCCGAGGCCTTCAAGCTCATCGATGAGAACGACCTGCTTGACTGTCTG
GTACATGTGTCCTACCTGGAAGTGTACAAGGAGGAGTTCCGAGACCTGCTCGAGGTGGGC
ACTGCCAGCCGTGACATCCAGCTCCGGGAAGATGAGCGCGGGAATGTTGTGCTGTGCGGG
GTGAAGGAGGTCGACGTGGAGGGCCTGGATGAGGTGCTGAGCCTCCTGGAGATGGGCAAC
GCGGCGCGGCACACGGGAGCCACGCACCTCAACCACCTGTCTAGCCGCTCACACACGGTC
TTCACCGTGACCCTGGAGCAGCGGGGGCGCGCCCCCAGCCGCCTACCCCGCCCCGCCCCG
GGCCAGCTGCTCGTCTCCAAGTTCCACTTCGTGGACCTGGCGGGCTCAGAGAGGGTGCTC
AAGACGGGCAGCACCGGCGAGCGGCTCAAGGAGAGCATCCAGATCAACAGCAGCCTCCTG
GCGCTGGGCAACGTCATCAGCGCCCTGGGGGACCCTCAGCGCCGGGGCAGCCACATACCC
TACCGCGACTCCAAGATCACCCGGATCCTCAAAGACTCGCTGGGCGGGAACGCCAAGACG
GTGATGATCGCCTGCGTCAGCCCTTCCTCCTCCGACTTCGACGAGACCCTCAACACCCTC
AACTACGCCAGCCGCGCCCAGAACATCCGCAACCGCGCCACGGTCAACTGGCGGCCCGAG
GCCGAGCGGCCACCCGAAGAGACGGCGAGCGGCGCGCGGGGTCCGCCACGGCACCGCTCC
GAGACCCGCATCATCCACCGCGGCCGGCGCGCCCCAGGCCCAGCCACCGCCTCCGCGGCG
GCCGCCATGCGCCTGGGCGCCGAGTGCGCGCGCTACCGGGCCTGCACCGACGCCGCCTAC
AGCCTCTTGCGCGAGCTGCAGGCCGAGCCCGGGCTGCCCGGCGCCGCCGCCCGCAAGGTG
CGCGACTGGCTGTGCGCCGTCGAGGGCGAGCGCAGCGCCCTGAGCTCCGCCTCCGGGCCC
GATAGCGGCATCGAGAGCGCCTCCGTCGAGGACCAGGCGGCGCAGGGGGCCGGCGGGCGA
AAGGAGGATGAGGGGGCGCAGCAGCTGCTGACCCTGCAGAACCAGGTGGCGCGGCTGGAG
GAGGAGAACCGAGACTTTCTGGCTGCGCTGGAGGACGCCATGGAGCAGTACAAACTGCAG
AGCGACCGGCTGCGTGAGCAGCAGGAGGAGATGGTGGAACTGCGGCTGCGGTTAGAGCTG
GTGCGGCCAGGCTGGGGGGGCCCGCGGCTCCTGAATGGCCTGCCTCCCGGGTCCTTTGTG
CCTCGACCTCATACAGCCCCCCTGGGGGGTGCCCACGCCCATGTGCTGGGCATGGTGCCG
CCTGCCTGCCTCCCTGGAGATGAAGTTGGCTCTGAGCAGAGGGGAGAGCAGGTGACAAAT
GGCAGGGAGGCTGGAGCTGAGTTGCTGACTGAGGTGAACAGGCTGGGAAGTGGCTCTTCA
GCTGCTTCAGAGGAGGAAGAGGAGGAGGAGGAGCCGCCCAGGCGGACCTTACACCTGCGC
AGAAATAGGATCAGCAACTGCAGTCAGAGGGCGGGGGCACGCCCAGGGAGTCTGCCAGAG
AGGAAGGGCCCAGAGCTTTGCCTTGAGGAGTTGGATGCAGCCATTCCAGGGTCCAGAGCA
GTTGGTGGGAGCAAGGCCCGAGTTCAGGCCCGCCAGGTCCCCCCTGCCACAGCCTCAGAG
TGGCGGCTGGCCCAGGCCCAGCAGAAGATCCGGGAGCTGGCTATCAACATCCGCATGAAG
GAGGAGCTTATTGGCGAGCTGGTCCGCACAGGAAAGGCAGCTCAGGCCCTGAACCGCCAG
CACAGCCAGCGTATCCGGGAGCTGGAGCAGGAGGCAGAGCAGGTGCGGGCCGAGCTGAGT
GAAGGCCAGAGGCAGCTGCGGGAGCTCGAGGGCAAGGAGCTCCAGGATGCTGGCGAGCGG
TCTCGGCTCCAGGAGTTCCGCAGGAGGGTCGCTGCGGCCCAGAGCCAGGTGCAGGTGCTG
AAGGAGAAGAAGCAGGCTACGGAGCGGCTGGTGTCACTGTCGGCCCAGAGTGAGAAGCGA
CTGCAGGAGCTCGAGCGGAACGTGCAGCTCATGCGGCAGCAGCAGGGACAGCTGCAGAGG
CGGCTTCGCGAGGAGACGGAGCAGAAGCGGCGCCTGGAGGCAGAAATGAGCAAGCGGCAG
CACCGCGTCAAGGAGCTGGAGCTGAAGCATGAGCAACAGCAGAAGATCCTGAAGATTAAG
ACGGAAGAGATCGCGGCATTCCAGAGGAAGAGGCGCAGTGGCAGCAACGGCTCTGTGGTC
AGCCTGGAACAGCAGCAGAAGATTGAGGAGCAGAAGAAGTGGCTGGACCAGGAGATGGAG
AAGGTGCTACAGCAGCGGCGGGCGCTGGAGGAGCTGGGGGAGGAGCTCCACAAGCGGGAG
GCCATCCTGGCCAAGAAGGAGGCCCTGATGCAGGAGAAGACGGGGCTGGAGAGCAAGCGC
CTGAGATCCAGCCAGGCCCTCAACGAGGACATCGTGCGAGTGTCCAGCCGGCTGGAGCAC
CTGGAGAAGGAGCTGTCCGAGAAGAGCGGGCAGCTGCGGCAGGGCAGCGCCCAGAGCCAG
CAGCAGATCCGCGGGGAGATCGACAGCCTGCGCCAGGAGAAGGACTCGCTGCTCAAGCAG
CGCCTGGAGATCGACGGCAAGCTGAGGCAGGGGAGTCTGCTGTCCCCCGAGGAGGAGCGG
ACGCTGTTCCAGTTGGATGAGGCCATCGAGGCCCTGGATGCTGCCATTGAGTATAAGAAT
GAGGCCATCACATGCCGCCAGCGGGTGCTTCGGGCCTCAGCCTCGTTGCTGTCCCAGTGC
GAGATGAACCTCATGGCCAAGCTCAGCTACCTCTCATCCTCAGAGACCAGAGCCCTCCTC
TGCAAGTATTTTGACAAGGTGGTGACGCTCCGAGAGGAGCAGCACCAGCAGCAGATTGCC
TTCTCGGAACTGGAGATGCAGCTGGAGGAGCAGCAGAGGCTGGTGTACTGGCTGGAGGTG
GCCCTGGAGCGGCAGCGCCTGGAGATGGACCGCCAGCTGACCCTGCAGCAGAAGGAGCAC
GAGCAGAACATGCAGCTGCTCCTGCAGCAGAGTCGAGACCACCTCGGTGAAGGGTTAGCA
GACAGCAGGAGGCAGTATGAGGCCCGGATTCAAGCTCTGGAGAAGGAACTGGGCCGTTAC
ATGTGGATAAACCAGGAACTGAAACAGAAGCTCGGCGGTGTGAACGCTGTAGGCCACAGC
AGGGGTGGGGAGAAGAGGAGCCTGTGCTCGGAGGGCAGACAGGCTCCTGGAAATGAAGAT
GAGCTCCACCTGGCACCCGAGCTTCTCTGGCTGTCCCCCCTCACTGAGGGGGCCCCCCGC
ACCCGGGAGGAGACGCGGGACTTGGTCCACGCTCCGTTACCCTTGACCTGGAAACGCTCG
AGCCTGTGTGGTGAGGAGCAGGGGTCCCCCGAGGAACTGAGGCAGCGGGAGGCGGCTGAG
CCCCTGGTGGGGCGGGTGCTTCCTGTGGGTGAGGCAGGCCTGCCCTGGAACTTTGGGCCT
TTGTCCAAGCCCCGGCGGGAACTGCGACGAGCCAGCCCGGGGATGATTGATGTCCGGAAA
AACCCCCTGTAA
GenBank Gene ID
GeneCard IDNone
GenAtlas ID
HGNC IDHGNC:30497
Chromosome Location15
LocusNone
References
  1. Clark HF, Gurney AL, Abaya E, Baker K, Baldwin D, Brush J, Chen J, Chow B, Chui C, Crowley C, Currell B, Deuel B, Dowd P, Eaton D, Foster J, Grimaldi C, Gu Q, Hass PE, Heldens S, Huang A, Kim HS, Klimowski L, Jin Y, Johnson S, Lee J, Lewis L, Liao D, Mark M, Robbie E, Sanchez C, Schoenfeld J, Seshagiri S, Simmons L, Singh J, Smith V, Stinson J, Vagts A, Vandlen R, Watanabe C, Wieand D, Woods K, Xie MH, Yansura D, Yi S, Yu G, Yuan J, Zhang M, Zhang Z, Goddard A, Wood WI, Godowski P, Gray A: The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. Genome Res. 2003 Oct;13(10):2265-70. Epub 2003 Sep 15.[12975309 ]
  2. Katoh Y, Katoh M: Characterization of KIF7 gene in silico. Int J Oncol. 2004 Dec;25(6):1881-6.[15547730 ]
  3. Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP: A quantitative atlas of mitotic phosphorylation. Proc Natl Acad Sci U S A. 2008 Aug 5;105(31):10762-7. doi: 10.1073/pnas.0805139105. Epub 2008 Jul 31.[18669648 ]
  4. Gauci S, Helbig AO, Slijper M, Krijgsveld J, Heck AJ, Mohammed S: Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach. Anal Chem. 2009 Jun 1;81(11):4493-501. doi: 10.1021/ac9004309.[19413330 ]
  5. Endoh-Yamagami S, Evangelista M, Wilson D, Wen X, Theunissen JW, Phamluong K, Davis M, Scales SJ, Solloway MJ, de Sauvage FJ, Peterson AS: The mammalian Cos2 homolog Kif7 plays an essential role in modulating Hh signal transduction during development. Curr Biol. 2009 Aug 11;19(15):1320-6. doi: 10.1016/j.cub.2009.06.046. Epub 2009 Jul 9.[19592253 ]
  6. Burkard TR, Planyavsky M, Kaupe I, Breitwieser FP, Burckstummer T, Bennett KL, Superti-Furga G, Colinge J: Initial characterization of the human central proteome. BMC Syst Biol. 2011 Jan 26;5:17. doi: 10.1186/1752-0509-5-17.[21269460 ]
  7. Dafinger C, Liebau MC, Elsayed SM, Hellenbroich Y, Boltshauser E, Korenke GC, Fabretti F, Janecke AR, Ebermann I, Nurnberg G, Nurnberg P, Zentgraf H, Koerber F, Addicks K, Elsobky E, Benzing T, Schermer B, Bolz HJ: Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics. J Clin Invest. 2011 Jul;121(7):2662-7. doi: 10.1172/JCI43639.[21633164 ]
  8. Putoux A, Thomas S, Coene KL, Davis EE, Alanay Y, Ogur G, Uz E, Buzas D, Gomes C, Patrier S, Bennett CL, Elkhartoufi N, Frison MH, Rigonnot L, Joye N, Pruvost S, Utine GE, Boduroglu K, Nitschke P, Fertitta L, Thauvin-Robinet C, Munnich A, Cormier-Daire V, Hennekam R, Colin E, Akarsu NA, Bole-Feysot C, Cagnard N, Schmitt A, Goudin N, Lyonnet S, Encha-Razavi F, Siffroi JP, Winey M, Katsanis N, Gonzales M, Vekemans M, Beales PL, Attie-Bitach T: KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes. Nat Genet. 2011 Jun;43(6):601-6. doi: 10.1038/ng.826. Epub 2011 May 8.[21552264 ]
  9. Ali BR, Silhavy JL, Akawi NA, Gleeson JG, Al-Gazali L: A mutation in KIF7 is responsible for the autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia and distinctive facial appearance. Orphanet J Rare Dis. 2012 May 15;7:27. doi: 10.1186/1750-1172-7-27.[22587682 ]
  10. Zody MC, Garber M, Sharpe T, Young SK, Rowen L, O'Neill K, Whittaker CA, Kamal M, Chang JL, Cuomo CA, Dewar K, FitzGerald MG, Kodira CD, Madan A, Qin S, Yang X, Abbasi N, Abouelleil A, Arachchi HM, Baradarani L, Birditt B, Bloom S, Bloom T, Borowsky ML, Burke J, Butler J, Cook A, DeArellano K, DeCaprio D, Dorris L 3rd, Dors M, Eichler EE, Engels R, Fahey J, Fleetwood P, Friedman C, Gearin G, Hall JL, Hensley G, Johnson E, Jones C, Kamat A, Kaur A, Locke DP, Madan A, Munson G, Jaffe DB, Lui A, Macdonald P, Mauceli E, Naylor JW, Nesbitt R, Nicol R, O'Leary SB, Ratcliffe A, Rounsley S, She X, Sneddon KM, Stewart S, Sougnez C, Stone SM, Topham K, Vincent D, Wang S, Zimmer AR, Birren BW, Hood L, Lander ES, Nusbaum C: Analysis of the DNA sequence and duplication history of human chromosome 15. Nature. 2006 Mar 30;440(7084):671-5.[16572171 ]
  11. Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7.[15489334 ]
  12. Putoux A, Nampoothiri S, Laurent N, Cormier-Daire V, Beales PL, Schinzel A, Bartholdi D, Alby C, Thomas S, Elkhartoufi N, Ichkou A, Litzler J, Munnich A, Encha-Razavi F, Kannan R, Faivre L, Boddaert N, Rauch A, Vekemans M, Attie-Bitach T: Novel KIF7 mutations extend the phenotypic spectrum of acrocallosal syndrome. J Med Genet. 2012 Nov;49(11):713-20. doi: 10.1136/jmedgenet-2012-101016.[23125460 ]

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