LOCUS JN226411 1947 bp mRNA linear HUM 08-AUG-2011
DEFINITION Homo sapiens male germ cell-associated kinase retinal-enriched
isoform (MAK) mRNA, complete cds, alternatively spliced.
ACCESSION JN226411
VERSION JN226411.1
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 1947)
AUTHORS Corbo,J.C. and Myers,C.A.
TITLE Exome Sequencing and Cis-Regulatory Mapping Identify Mutations in
MAK, a Gene Encoding a Regulator of Ciliary Length, as a Cause of
Retinitis Pigmentosa
JOURNAL Unpublished
REFERENCE 2 (bases 1 to 1947)
AUTHORS Corbo,J.C. and Myers,C.A.
TITLE Direct Submission
JOURNAL Submitted (07-JUL-2011) Pathology/Immunology, Washington
University, 660 S. Euclid Ave., St. Louis, MO 63110, USA
FEATURES Location/Qualifiers
source 1..1947
/db_xref="H-InvDB:HIT000719111"
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/tissue_type="retinal tissue"
gene 1..1947
/gene="MAK"
CDS 1..1947
/gene="MAK"
/note="alternatively spliced"
/codon_start=1
/product="male germ cell-associated kinase
retinal-enriched isoform"
/protein_id="AEL29206.1"
/translation="MNRYTTMRQLGDGTYGSVLMGKSNESGELVAIKRMKRKFYSWDE
CMNLREVKSLKKLNHANVIKLKEVIRENDHLYFIFEYMKENLYQLMKDRNKLFPESVI
RNIMYQILQGLAFIHKHGFFHRDMKPENLLCMGPELVKIADFGLARELRSQPPYTDYV
STRWYRAPEVLLRSSVYSSPIDVWAVGSIMAELYMLRPLFPGTSEVDEIFKICQVLGT
PKKSDWPEGYQLASSMNFRFPQCVPINLKTLIPNASNEAIQLMTEMLNWDPKKRPTAS
QALKHPYFQVGQVLGPSSNHLESKQSLNKQLQPLESKPSLVEVEPKPLPDIIDQVVGQ
PQPKTSQQPLQPIQPPQNLSVQQPPKQQSQEKPPQTLFPSIVKNMPTKPNGTLSHKSG
RRRWGQTIFKSGDSWEELEDYDFGASHSKKPSMGVFKEKRKKDSPFRLPEPVPSGSNH
STGENKSLPAVTSLKSDSELSTAPTSKQYYLKQSRYLPGVNPKKVSLIASGKEINPHT
WSNQLFPKSLGPVGAELAFKRSNAEESIIKPIEKLSCNETFPEKLEDPQGNLGSYATY
NQSGYIPSFLKKEVQSAGQRIHLAPLNATASEYTWNTKTGRGQFSGRTYNPTAKNLNI
VNRAQPIPSVHGRTDWVAKYGGHR"
BASE COUNT 631 a 423 c 418 g 475 t
ORIGIN
1 atgaaccgat acacaaccat gagacagttg ggggacggca cgtatgggag tgtgcttatg
61 ggcaagagta atgaatccgg ggagctggtg gccatcaaaa ggatgaagag aaagttctat
121 tcttgggatg aatgcatgaa cttgagagaa gttaagtctc tgaagaaact taatcatgcc
181 aatgttatta aattgaaaga agttatcaga gaaaatgacc atctttattt tatatttgaa
241 tatatgaaag aaaacctcta tcaattaatg aaagacagaa acaagttgtt ccctgaatca
301 gtcatcagaa atattatgta tcaaatattg caagggctgg cttttatcca taaacatggc
361 ttttttcata gggacatgaa accagaaaac ttgctttgta tgggtccaga gcttgtgaaa
421 attgctgatt ttggacttgc aagagaatta aggtcacagc caccatacac tgattatgta
481 tctaccagat ggtatcgtgc ccctgaagtt ttactgagat cttcagttta tagttctccc
541 attgatgtgt gggctgttgg aagtatcatg gctgaactct atatgttaag gccacttttc
601 ccagggacaa gtgaggtcga tgaaatcttt aaaatttgcc aagttttagg gactcccaaa
661 aaaagtgact ggccagaagg ataccagctg gcatcctcta tgaacttccg ttttccccag
721 tgtgttccta taaacttaaa aactcttatt cccaatgcca gtaatgaagc tattcagctc
781 atgaccgaaa tgttgaattg ggatccaaag aaacgaccga cagcaagcca ggcattgaaa
841 cacccatatt ttcaagttgg tcaggtatta ggcccttcgt caaatcatct ggaatcaaaa
901 cagtctttaa ataagcagct gcaaccatta gaatcaaagc catctttagt tgaggtagag
961 cctaagcctc tgccggatat aatcgatcag gttgttggac aaccccagcc aaaaactagc
1021 cagcagccac tgcagcccat tcagccgcca cagaacctga gcgtccagca acctccaaag
1081 caacagagtc aggagaaacc gccacaaacg ctattcccga gcatcgtcaa aaacatgcca
1141 actaagccaa atggcacact gagtcataaa agtggtagga ggcgttgggg tcagactatc
1201 ttcaagtctg gagatagctg ggaagagttg gaggactatg atttcggagc ctcccattcc
1261 aagaagccaa gcatgggtgt ttttaaagaa aaaaggaaaa aagattctcc atttcggctt
1321 ccagagccag taccctcagg ctccaaccac tcgacagggg aaaacaagag cttacctgct
1381 gttacttccc taaaatctga ttccgaattg tcaactgctc caacctctaa acagtactac
1441 ttgaaacaat caagatatct tccaggtgtg aatcccaaga aggtgtcctt gatagccagt
1501 ggaaaggaaa taaaccccca cacttggagc aaccagttat tccccaagtc actgggaccc
1561 gttggggcag aacttgcttt caaaaggagc aatgcagaag aaagcataat taaaccaatc
1621 gaaaaactat catgcaatga aacttttcct gaaaaattag aggacccaca aggaaatctt
1681 ggaagttatg ctacttacaa tcagtcagga tatattcctt cctttctcaa aaaagaagtg
1741 cagtcagctg gccagaggat ccacttagca cctctcaatg caacggcttc agaatatacc
1801 tggaacacaa aaactggtcg ggggcagttt tcaggacgta cttataatcc tacagcaaaa
1861 aacctaaata ttgtgaaccg tgcacagccc attccctcag tgcatgggag gacagactgg
1921 gtggccaagt atggaggcca ccggtag
//