LOCUS AY368076 5044 bp mRNA linear HUM 03-DEC-2003
DEFINITION Homo sapiens kinesin family member 21A (KIF21A) mRNA, complete cds,
alternatively spliced.
ACCESSION AY368076
VERSION AY368076.1
KEYWORDS .
SOURCE Homo sapiens (human)
ORGANISM Homo sapiens
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
REFERENCE 1 (bases 1 to 5044)
AUTHORS Yamada,K., Andrews,C., Chan,W.M., McKeown,C.A., Magli,A., de
Berardinis,T., Loewenstein,A., Lazar,M., O'Keefe,M., Letson,R.,
London,A., Ruttum,M., Matsumoto,N., Saito,N., Morris,L., Del
Monte,M., Johnson,R.H., Uyama,E., Houtman,W.A., de Vries,B.,
Carlow,T.J., Hart,B.L., Krawiecki,N., Shoffner,J., Vogel,M.C.,
Katowitz,J., Goldstein,S.M., Levin,A.V., Sener,E.C., Ozturk,B.T.,
Akarsu,A.N., Brodsky,M.C., Hanisch,F., Cruse,R.P., Zubcov,A.A.,
Robb,R.M., Roggenkaemper,P., Gottlob,I., Kowal,L., Battu,R.,
Traboulsi,E.I., Franceschini,P., Newlin,A., Demer,J.L. and
Engle,E.C.
TITLE Heterozygous mutations of the kinesin KIF21A in congenital fibrosis
of the extraocular muscles type 1 (CFEOM1)
JOURNAL Nat. Genet. 35 (4), 318-321 (2003)
PUBMED 14595441
REFERENCE 2 (bases 1 to 5044)
AUTHORS Yamada,K. and Engle,E.C.
TITLE Direct Submission
JOURNAL Submitted (14-AUG-2003) Genetics, Children's Hospital Boston, 300
Longwood Avenue, Boston, MA 02115, USA
FEATURES Location/Qualifiers
source 1..5044
/db_xref="H-InvDB:HIT000253282"
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="12"
/map="12q12"
gene 1..5044
/gene="KIF21A"
CDS 17..5041
/gene="KIF21A"
/note="microtubule-based motor protein; alternatively
spliced"
/codon_start=1
/product="kinesin family member 21A"
/protein_id="AAR04774.1"
/translation="MLGAPDESSVRVAVRIRPQLAKEKIEGCHICTSVTPGEPQVFLG
KDKAFTFDYVFDIDSQQEQIYIQCIEKLIEGCFEGYNATVFAYGQTGAGKTYTMGTGF
DVNIVEEELGIISRAVKHLFKSIEEKKHIAIKNGLPAPDFKVNAQFLELYNEEVLDLF
DTTRDIDAKSKKSNIRIHEDSTGGIYTVGVTTRTVNTESEMMQCLKLGALSRTTASTQ
MNVQSSRSHAIFTIHVCQTRVCPQIDADNATDNKIISESAQMNEFETLTAKFHFVDLA
GSERLKRTGATGERAKEGISINCGLLALGNVISALGDKSKRATHVPYRDSKLTRLLQD
SLGGNSQTIMIACVSPSDRDFMETLNTLKYANRARNIKNKVMVNQDRASQQINALRSE
ITRLQMELMEYKTGKRIIDEEGVESINDMFHENAMLQTENNNLRVRIKAMQETVDALR
SRITQLVSDQANHVLARAGEGNEEISNMIHSYIKEIEDLRAKLLESEAVNENLRKNLT
RATARAPYFSGSSTFSPTILSSDKETIEIIDLAKKDLEKLKRKEKRKKKRLQKLEESN
REERSVAGKEDNTDTDQEKKEEKGVSERENNELEVEESQEVSDHEDEEEEEEEEEDDI
DGGESSDESDSESDEKANYQADLANITCEIAIKQKLIDELENSQKRLQTLKKQYEEKL
MMLQHKIRDTQLERDQVLQNLGSVESYSEEKAKKVRSEYEKKLQAMNKELQRLQAAQK
EHARLLKNQSQYEKQLKKLQQDVMEMKKTKVRLMKQMKEEQEKARLTESRRNREIAQL
KKDQRKRDHQLRLLEAQKRNQEVVLRRKTEEVTALRRQVRPMSDKVAGKVTRKLSSSD
APAQDTGSSAAAVETDASRTGAQQKMRIPVARVQALPTPATNGNRKKYQRKGLTGRVF
ISKTARMKWQLLERRVTDIIMQKMTISNMEADMNRLLKQREELTKRREKLSKRREKIV
KENGEGDKNVANINEEMESLTANIDYINDSISDCQANIMQMEEAKEEGETLDVTAVIN
ACTLTEARYLLDHFLSMGINKGLQAAQKEAQIKVLEGRLKQTEITSATQNQLLFHMLK
EKAELNPELDALLGHALQDLDSVPLENVEDSTDEDAPLNSPGSEGSTLSSDLMKLCGE
VKPKNKARRRTTTQMELLYADSSELASDTSTGDASLPGPLTPVAEGQEIGMNTETSGT
SAREKELSPPPGLPSKIGSISRQSSLSEKKIPEPSPVTRRKAYEKAEKSKAKEQKHSD
SGTSEASLSPPSSPPSRPRNELNVFNRLTVSQGNTSVQQDKSDESDSSLSEVHRSSRR
GIINPFPASKGIRAFPLQCIHIAEGHTKAVLCVDSTDDLLFTGSKDRTCKVWNLVTGQ
EIMSLGGHPNNVVSVKYCNYTSLVFTVSTSYIKVWDIRDSAKCIRTLTSSGQVTLGDA
CSASTSRTVAIPSGENQINQIALNPTGTFLYAASGNAVRMWDLKRFQSTGKLTGHLGP
VMCLTVDQISSGQDLIITGSKDHYIKMFDVTEGALGTVSPTHNFEPPHYDGIEALTIQ
GDNLFSGSRDNGIKKWDLTQKDLLQQVPNAHKDWVCALGVVPDHPVLLSGCRGGILKV
WNMDTFMPVGEMKGHDSPINAICVNSTHIFTAADDRTVRIWKARNLQDGQISDTGDLG
EDIASN"
exon 1690..1728
/gene="KIF21A"
/note="alternatively spliced"
/number=12
variation 3317
/gene="KIF21A"
/note="single nucleotide polymorphism"
/replace="a"
variation 3657
/gene="KIF21A"
/note="single nucleotide polymorphism"
/replace="g"
variation 3727
/gene="KIF21A"
/note="single nucleotide polymorphism"
/replace="t"
exon 3796..3924
/gene="KIF21A"
/note="alternatively spliced"
/number=29
exon 3925..3963
/gene="KIF21A"
/note="alternatively spliced"
/number=30
exon 3964..3975
/gene="KIF21A"
/note="alternatively spliced"
/number=31
variation 4784
/gene="KIF21A"
/note="single nucleotide polymorphism"
/replace="t"
BASE COUNT 1738 a 961 c 1174 g 1171 t
ORIGIN
1 gctgcccgcc gccagcatgt tgggcgcccc ggacgagagc tccgtgcggg tggctgtcag
61 aataagacca cagcttgcca aagagaagat tgaaggatgc catatttgta catctgtcac
121 accaggagag cctcaggtct tcctagggaa agataaggct tttacttttg actatgtatt
181 tgacattgac tcccagcaag agcagatcta cattcaatgt atagaaaaac taattgaagg
241 ttgctttgaa ggatacaatg ctacagtttt tgcttatgga caaactggag ctggtaaaac
301 atacacaatg ggaacaggat ttgatgttaa cattgttgag gaagaactgg gtattatttc
361 tcgagctgtt aaacaccttt ttaagagtat tgaagaaaaa aaacacatag caattaaaaa
421 tgggcttcct gctccagatt ttaaagtgaa tgcccaattc ttagagctct ataatgaaga
481 ggtccttgac ttatttgata ccactcgtga tattgatgca aaaagtaaaa aatcaaatat
541 aagaattcat gaagattcaa ctggaggaat ttatactgtg ggcgttacaa cacgtactgt
601 gaatacagaa tcagagatga tgcagtgttt gaagttgggt gctttatccc ggacaactgc
661 cagtacccag atgaatgttc agagctctcg ttcacatgcc atttttacca ttcatgtgtg
721 tcaaaccaga gtgtgtcccc aaatagatgc tgacaatgca actgataata aaattatttc
781 tgaatcagca cagatgaatg aatttgaaac cctgactgca aagttccatt ttgttgatct
841 cgcaggatct gaaagactga agcgtactgg agctacaggc gagagggcaa aagaaggcat
901 ttctatcaac tgtggacttt tggcacttgg caatgtaata agtgccttgg gagacaagag
961 caagagggcc acacatgtcc cctatagaga ttccaagcta acaagactac tacaggattc
1021 cctcgggggt aatagccaaa caatcatgat agcatgtgtc agcccttcag acagagactt
1081 tatggaaacg ttaaacaccc tgaaatacgc caatcgagct agaaatatca agaataaggt
1141 gatggtcaat caggacagag ctagtcagca aatcaatgca cttcgtagtg aaatcacacg
1201 acttcagatg gagctcatgg agtacaaaac aggtaaaaga ataattgacg aagagggtgt
1261 ggaaagcatc aatgacatgt ttcatgagaa tgctatgcta cagactgaaa ataataacct
1321 gcgtgtaaga attaaagcca tgcaagagac ggttgatgca ttgaggtcca gaattacaca
1381 gcttgttagt gatcaggcca accatgttct tgccagagca ggtgaaggaa atgaggagat
1441 tagtaatatg attcatagtt atataaaaga aatcgaagat ctcagggcaa aattattaga
1501 aagtgaagca gtgaatgaga accttcgaaa aaacttgaca agagccacag caagagcgcc
1561 atatttcagc ggatcatcaa ctttttctcc taccatacta tcctcagaca aagaaaccat
1621 tgaaattata gacctagcaa aaaaagattt agagaagttg aaaagaaaag aaaagaggaa
1681 gaaaaaaagg ctacagaaac ttgaggaaag caatcgagaa gaaagaagtg tggctggtaa
1741 agaggataat acagacactg accaagagaa gaaagaagaa aagggtgttt cggaaagaga
1801 aaacaatgaa ttagaagtgg aagaaagtca agaagtgagt gatcatgagg atgaagaaga
1861 ggaggaggag gaggaggaag atgacattga tgggggtgaa agttctgatg aatcagattc
1921 tgaatcagat gaaaaagcca attatcaagc agacttggca aacattactt gtgaaattgc
1981 aattaagcaa aagctgattg atgaactaga aaacagccag aaaagactgc agactctgaa
2041 aaagcagtat gaagagaagc taatgatgct gcaacataaa attcgggata ctcagcttga
2101 aagagaccag gtgcttcaaa acttaggctc ggtagaatct tactcagaag aaaaagcaaa
2161 aaaagttagg tctgaatatg aaaagaaact ccaagccatg aacaaagaac tgcagagact
2221 tcaagcagct caaaaagaac atgcaaggtt gcttaaaaat cagtctcagt atgaaaagca
2281 attgaagaaa ttgcagcagg atgtgatgga aatgaaaaaa acaaaggttc gcctaatgaa
2341 acaaatgaaa gaagaacaag agaaagccag actgactgag tctagaagaa acagagagat
2401 tgctcagttg aaaaaggatc aacgtaaaag agatcatcaa cttagacttc tggaagccca
2461 aaaaagaaac caagaagtgg ttctacgtcg caaaactgaa gaggttacgg ctcttcgtcg
2521 gcaagtaaga cccatgtcag ataaagtggc tgggaaagtt actcggaagc tgagttcatc
2581 tgatgcacct gctcaggaca caggttccag tgcagctgct gtcgaaacag atgcatcaag
2641 gacaggagcc cagcagaaaa tgagaattcc tgtggcgaga gtccaggcct taccaacgcc
2701 ggcaacaaat ggaaacagga aaaaatatca gaggaaagga ttgactggcc gagtgtttat
2761 ttccaagaca gctcgcatga agtggcagct ccttgagcgc agggtcacag acatcatcat
2821 gcagaagatg accatttcca acatggaggc agatatgaat agactcctca agcaacggga
2881 ggaactcaca aaaagacgag agaaactttc aaaaagaagg gagaagatag tcaaggagaa
2941 tggagaggga gataaaaatg tggctaatat caatgaagag atggagtcac tgactgctaa
3001 tatcgattac atcaatgaca gtatttctga ttgtcaggcc aacataatgc agatggaaga
3061 agcaaaggaa gaaggtgaga cattggatgt tactgcagtc attaatgcct gcacccttac
3121 agaagcccga tacctgctag atcacttcct gtcaatgggc atcaataagg gtcttcaggc
3181 tgcccagaaa gaggctcaaa ttaaagtact ggaaggtcga ctcaaacaaa cagaaataac
3241 cagtgctacc caaaaccagc tcttattcca tatgttgaaa gagaaggcag aattaaatcc
3301 tgagctagat gctttactag gccatgcttt acaagatcta gatagcgtac cattagaaaa
3361 tgtagaggat agtactgatg aggatgctcc tttaaacagc ccaggatcag aaggaagcac
3421 gctgtcttca gatctcatga agctttgtgg tgaagtgaaa cctaagaaca aggcccgaag
3481 gagaaccacc actcagatgg aattgctgta tgcagatagc agtgaactag cttcagacac
3541 tagtacagga gatgcctcct tgcctggccc tctcacacct gttgcagaag ggcaagagat
3601 tggaatgaat acagagacaa gtggtacttc tgctagggaa aaagagctct ctcccccacc
3661 tggcttacct tctaagatag gcagcatttc caggcagtca tctctatcag aaaaaaaaat
3721 tccagagcct tctcctgtaa caaggagaaa ggcatatgag aaagcagaaa aatcaaaggc
3781 caaggaacaa aagcactcag attctggaac ttcagaggct agtctttcac ctccttcttc
3841 cccaccaagc cggccccgta atgaactgaa tgtttttaat cgtcttactg tttctcaggg
3901 aaacacatca gttcagcagg ataagtctga tgaaagtgac tcctctctct cggaggtaca
3961 cagatcctcc agaaggggca taatcaaccc atttcctgct tcaaaaggaa tcagagcttt
4021 tccacttcag tgtattcaca tagctgaagg gcatacaaaa gctgtgctct gtgtggattc
4081 tactgatgat ctcctcttca ctggatcaaa agatcgtact tgtaaagtat ggaatctggt
4141 gactgggcag gaaataatgt cactgggggg tcatcccaac aatgtcgtgt ctgtaaaata
4201 ctgtaattat accagtttgg tcttcactgt atcaacatct tatattaagg tgtgggatat
4261 cagagattca gcaaagtgca ttcgaacact aacgtcttca ggtcaagtta ctcttggaga
4321 tgcttgttct gcaagtacca gtcgaacagt agctattcct tctggagaga accagatcaa
4381 tcaaattgcc ctaaacccaa ctggcacctt cctctatgct gcttctggaa atgctgtcag
4441 gatgtgggat cttaaaaggt ttcagtctac aggaaagtta acaggacacc taggccctgt
4501 tatgtgcctt actgtggatc agatttccag tggacaagat ctaatcatca ctggctccaa
4561 ggatcattac atcaaaatgt ttgatgttac agaaggagct cttgggactg tgagtcccac
4621 ccacaatttt gaaccccctc attatgatgg catagaagca ctaaccattc aaggggataa
4681 cctatttagt gggtctagag ataatggaat caagaaatgg gacttaactc aaaaagacct
4741 tcttcagcaa gttccaaatg cacataagga ttgggtctgt gccctgggag tggtgccaga
4801 ccacccagtt ttgctcagtg gctgcagagg gggcattttg aaagtctgga acatggatac
4861 ttttatgcca gtgggagaga tgaagggtca tgatagtcct atcaatgcca tatgtgttaa
4921 ttccacccac atttttactg cagctgatga tcgaactgtg agaatttgga aggctcgcaa
4981 tttgcaagat ggtcagatct ctgacacagg agatctgggg gaagatattg ccagtaatta
5041 aaca
//