LOCUS AH011517 5310 bp DNA linear HUM 10-JUN-2016 DEFINITION Homo sapiens isolate Pima Indian Genomic DNA, #657 LIM homeobox transcription factor 1 (LMX1A) gene, complete cds, alternatively spliced; and LIM homeobox transcription factor 1 alpha variant 6A (LMX1A) gene, complete sequence. ACCESSION AH011517 AY078391 AY078392 AY078393 AY078394 AY078395 AY078396 AY078397 AY078398 VERSION AH011517.2 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 5310) AUTHORS Thameem,F., Wolford,J.K., Wang,J., German,M.S., Bogardus,C. and Prochazka,M. TITLE Cloning, expression and genomic structure of human LMX1A, and variant screening in Pima Indians JOURNAL Gene 290 (1-2), 217-225 (2002) PUBMED 12062816 REFERENCE 2 (bases 1 to 5310) AUTHORS Thameem,F. TITLE Direct Submission JOURNAL Submitted (08-FEB-2002) Clinical Diabetes and Nutrition Section, NIDDK, NIH, 4212, North 16th Street, Phoenix, AZ 85016, USA COMMENT On or before Jun 10, 2016 this sequence version replaced AY078391.1, AY078392.1, AY078393.1, AY078394.1, AY078395.1, AY078396.1, AY078397.1, AY078398.1, AH011517.1. FEATURES Location/Qualifiers source 1..5310 /organism="Homo sapiens" /mol_type="genomic DNA" /isolate="Pima Indian Genomic DNA, #657" /db_xref="taxon:9606" /chromosome="1" /map="1q22" gene <1..5305 /gene="LMX1A" regulatory <1..133 /regulatory_class="promoter" /gene="LMX1A" variation 50 /gene="LMX1A" /replace="a" mRNA join(134..430,1072..1258,1504..1736,1980..2152,3317..3394, 3661..3730,4539..4709,4953..5305) /gene="LMX1A" /product="LIM homeobox transcription factor 1 alpha" /note="alternative transcript" exon 134..430 /gene="LMX1A" /number=1 5'UTR 134..354 /gene="LMX1A" CDS join(355..430,1072..1258,1504..1736,1980..2152,3317..3394, 3661..3730,4539..4709,4953..5113) /gene="LMX1A" /note="alternatively spliced" /codon_start=1 /product="LIM homeobox transcription factor 1 alpha" /protein_id="AAL82892.1" /translation="MLDGLKMEENFQSAIDTSASFSSLLGRAVSPKSVCEGCQRVILD RFLLRLNDSFWHEQCVQCASCKEPLETTCFYRDKKLYCKYDYEKLFAVKCGGCFEAIA PNEFVMRAQKSVYHLSCFCCCVCERQLQKGDEFVLKEGQLLCKGDYEKERELLSLVSP AASDSGKSDDEESLCKSAHGAGKGTAEEGKDHKRPKRPRTILTTQQRRAFKASFEVSS KPCRKVRETLAAETGLSVRVVQVWFQNQRAKMKKLARRQQQQQQDQQNTQRLSSAQTN GGGSAGMEGIMNPYTALPTPQQLLAIEQSVYSSDPFRQGLTPPQMPGDHMHPYGAEPL FHDLDSDDTSLSNLGDCFLATSEAGPLQSRVGNPIDHLYSMQNSYFTS" variation 856 /gene="LMX1A" /replace="g" gap 901..1000 /estimated_length=unknown exon 1072..1258 /gene="LMX1A" /number=2 gap 1301..1400 /estimated_length=unknown exon 1504..1736 /gene="LMX1A" /number=3 variation 1589 /gene="LMX1A" /replace="t" mRNA join(1592..1736,1980..2152,3317..3394,3661..3730, 4179..4311,4539..4709,4953..5305) /gene="LMX1A" /product="LIM homeobox transcription factor 1 alpha variant 6A" /note="alternative transcript detected only in testis cDNA; coding region not determined" misc_feature 1592 /gene="LMX1A" /note="transcription start site for alternative transcript encoding LMX1-6A" gap 1821..1920 /estimated_length=unknown exon 1980..2152 /gene="LMX1A" /number=4 mRNA join(2516..2585,2738..2834,3317..3394,3661..3730, 4539..4709,4953..5305) /gene="LMX1A" /product="LIM homeobox transcription factor 1 alpha variant 4AB" /note="alternative transcript detected only in testis cDNA" exon 2516..2585 /gene="LMX1A" /note="alternative exon for LMX1-4AB; detected only in testis cDNA" /number=4a variation 2539 /gene="LMX1A" /replace="a" variation 2675 /gene="LMX1A" /replace="g" exon 2738..2834 /gene="LMX1A" /note="alternative exon for LMX1-4AB; detected only in testis cDNA" /number=4b gap 2881..2980 /estimated_length=unknown variation 2992 /gene="LMX1A" /replace="c" variation 3241 /gene="LMX1A" /replace="t" exon 3317..3394 /gene="LMX1A" /number=5 gap 3461..3560 /estimated_length=unknown CDS join(3661..3730,4539..4709,4953..5113) /gene="LMX1A" /note="LMX1-4AB; alternatively spliced" /codon_start=1 /product="LIM homeobox transcription factor 1 alpha variant 4AB" /protein_id="AAL82893.1" /translation="MKKLARRQQQQQQDQQNTQRLSSAQTNGGGSAGMEGIMNPYTAL PTPQQLLAIEQSVYSSDPFRQGLTPPQMPGDHMHPYGAEPLFHDLDSDDTSLSNLGDC FLATSEAGPLQSRVGNPIDHLYSMQNSYFTS" exon 3661..3730 /gene="LMX1A" /number=6 exon 4179..4311 /gene="LMX1A" /note="alternative exon for LMX1-6A; detected only in testis cDNA" /number=6A gap 4401..4500 /estimated_length=unknown exon 4539..4709 /gene="LMX1A" /number=7 gap 4801..4900 /estimated_length=unknown exon 4953..5305 /gene="LMX1A" /number=8 BASE COUNT 1060 a 1179 c 1228 g 1143 t ORIGIN 1 gtataggttg gggcggagtc ggattcggga tggaaaacct ggggcaaggg atgtaggtgg 61 gggtgagggg ggcaggagaa ggagaaacgc agttgggggg cggaggccta agtacataac 121 gtgttgactt caagtgaaat cagatcagcc agagcagttc gctgtgactg atctctcctc 181 ccaccctaca ttctcttggc tggaccctat cctcctggct gattctggtc gccctggaca 241 ctccctcagt tctttcccag gagtgcggtg gctgctggcg ccgagtccca gcgggcacgg 301 acgtcagacg catcgtttct tctcctctac aggtcctccc ggcccggccc gaacatgctg 361 gacggcctaa agatggagga gaacttccaa agcgcgatcg acacctcggc ctccttctcc 421 tcgctgctgg gtgagtgttc aggccgtgcg tcctgggcgc actctctttc cgcttggcgc 481 tgagctctgg agccccgctc tctgggacct ggtccgcgat agggaagcta gcgcccctct 541 tcatacacta aattgagccc catcactatc tgtccgtcag tgcttgtggg tcgtccctac 601 ccaaataaat ccaacaagcc gccccaggcc tcacgcactg ggcaccgaat tccccaaagc 661 cgcgaggggc gggcgagctt gttcgtaggc gtctgagtgg caagtgatta aaaataccca 721 gggctggatt tttaatctcg gagctgatcg acgtctcata aatgccgccc tcttctcgcg 781 gcctagaggc aatagcatcc gagacccgag gcctggagcg cccaagttcg aggaggcttc 841 tctcccccac caactccagc cccaatttca gccatgggca aggccgagag agacttttct 901 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn 961 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn gggtcccggc caggtttggc 1021 atggtctacc tgcccgggct gctcacccgc caacgtctgt tgtggctaca ggcagagcgg 1081 tgagccccaa gtctgtctgc gagggctgtc agcgggtcat cttggacagg tttctgctgc 1141 ggctcaacga cagcttctgg catgagcagt gcgtgcagtg cgcctcctgc aaagagcccc 1201 tggagaccac ctgcttctac cgggacaaga agctgtactg caagtatgac tacgagaagt 1261 aagtggccgc acccccgcag cgctccccgc gcactggcat nnnnnnnnnn nnnnnnnnnn 1321 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn 1381 nnnnnnnnnn nnnnnnnnnn atcccagttc ttgaagttcc ttttgctgtt gacttcaggg 1441 gagacccagg accaagccag attttactca tggtgcatgt acttcctttc tccctgctgc 1501 caggctgttt gctgttaaat gtgggggctg cttcgaggcc atcgctccca atgagtttgt 1561 tatgcgggcc cagaagagtg tataccacct gagctgcttc tgctgctgtg tctgcgagcg 1621 acagcttcag aagggtgatg agtttgtcct gaaggagggg cagctgctct gcaaagggga 1681 ctatgagaag gagcgggagc tgctcagcct ggtgagccca gcagcctcag actcaggtga 1741 gtgccaggtg gtgggcaggg ctgcggtggg gtgggtagag tggagttggg tggctgtctg 1801 cattgtttct tccctagatg nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn 1861 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn 1921 catacagctc caggaactgg ctttcaggga ctcacaacat tgtcttttgc ttctttcagg 1981 taaaagtgat gatgaagaaa gtctctgcaa gtcagcccat ggggcaggga aaggaactgc 2041 tgaggaaggc aaggaccata agcgccccaa acgtccgaga accatcttga caactcaaca 2101 gaggcgagca ttcaaggcct catttgaagt atcctccaag ccctgcagga aggtatagga 2161 gggagcaggg aggaaaagga gctgggcccc acttctctgt gtgcactcag acccctctgg 2221 gatctcagtg ggcattgggg gtcacagtgg tgaggaaggc tgttcagaca gagcctgcac 2281 aggcggctca agcctgttgg agactccaga gatcactaag ctgtggccag ggtgtgatag 2341 actctcctga agctttcatg catgcacacc aactccaaat ggcccctgtc acacctttca 2401 tttcatagag cacaatggga acagtaataa tgataggtgt ccattgtggt gtagacccag 2461 atgctgtaaa gcaaagagta taaaaacaca gtggcttgca gtactctttt ttgagtctgg 2521 ctttttccac ttggtgtggt ggtttgggga ttcattcatt cctatttcag cattccactg 2581 tataggtgtg ccatgattgg tttgtccatg cacctgttga tgggtgtttg gggttgtttc 2641 tagtttggga ctgtttcaaa taggactgct atggacattc atgtaaaaaa aaatacagtg 2701 gtttaatgag acaggagttt attctcttct gtcacagtcc agaggtgagc aaggcaaggc 2761 tggtgggtgg ctctgttatc catctcctgt gtccaagcga ctgctccagt tgtcaccatg 2821 tttccagtca ccaggtagag aaagaggaaa tggagggcaa gcgccctgct ttttaaggat 2881 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn 2941 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn atgcatatgc atggcttata 3001 gctaaagcac aacaatagac taaagtctaa accacttgaa ggcctaattt ccagagcaag 3061 agaaatccag aaacacctct tgggaatgca catgtaaatt aataattatt attttgtttc 3121 tttacctggt gaaggacttt ctttctacct gaagggaagc aatgttctcg tgtttgtgtg 3181 tatgctcaac attaaaaact attcagctcc taaagcagat acagtctttt ggcctcctca 3241 agtattatat aggagatgtt ctacctccta ccctgagatg ccagtgtgtc tacatttctc 3301 gttcaatttt tccaaggtga gagagactct ggctgcagag acagggctga gtgtccgtgt 3361 cgtccaggtg tggttccaaa accagagagc gaaggtaacc tgcttcttac ttttatctgt 3421 ccccatgttg ctggtttcct gaaataatca cagtaggaca nnnnnnnnnn nnnnnnnnnn 3481 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn 3541 nnnnnnnnnn nnnnnnnnnn agccctctcc cggggaaggt gtcacttcca ggccccccct 3601 tactttgtga acatgctgca ggccacctga cttctaatcc tatggtcctc tccttatcag 3661 atgaagaagc tggccaggcg acagcagcag cagcagcaag atcagcagaa cacccagagg 3721 ctgagctctg gtaagctggt gcctcctccc aggcagttct ggctggaatc caggctgttc 3781 ctaccagagg cctcccacta cccagctctt tggatgacat atctggactc agtgaagcct 3841 agaccacacc cactggagaa ataaggcctt caagggaaga ctgagccacg aggaacttgt 3901 gagagggttg agggctcctg agctgcaggc ttagaactgc tgattgggga tggcactgac 3961 cttatccaca gcgtccaggc ctggatccca ccacagcgtc agggactgct tgcagagtca 4021 cagatacgtt cagtttctca tcttgcttag ttctccttcc aggctaattg atttaataga 4081 agacacctcg gtgacttggc tctttccaaa ataacataaa gtagtaaaaa taatgatagt 4141 aaaataacaa tgccttcctt tgttgaacac tcttatagat tggtgttctc atacatgctg 4201 acttgacttt tacaacaccc attcctggag gcgagtggag aagttgttat tatccctatg 4261 tcacagatga gcaaacaaag gctctgcaag attgaatgtg gccctagatc ggtaagggca 4321 gggggctggg actagaactc taactgtgtt ccacaggcca tgggccttct catctctacc 4381 cagatgtgct tttgaaaaag nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn 4441 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn 4501 cacgttgaga atgacctggc ttcttctttg ttccacagct cagacaaacg gtggtgggag 4561 tgctgggatg gaaggaatca tgaaccccta cacggctctg cccaccccac agcagctcct 4621 ggccatcgag cagagtgtct acagctcaga tcccttccga cagggtctca ccccacccca 4681 gatgcctgga gaccacatgc acccttatgg taagagggac ttaagcccct cgggccctct 4741 cataacttgt gtgggtttct cattccctcc taaacacatc taggcagttc ccagatgctc 4801 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn 4861 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn aaatgagtca cttcttcaag 4921 accctcatgc cagtgtttca tctccatttc aggtgccgag ccccttttcc atgacctgga 4981 tagcgacgac acctccctca gtaacctggg tgattgtttc ctagcaacct cagaagctgg 5041 gcctctgcag tccagagtgg gaaaccccat tgaccatctg tactccatgc agaattctta 5101 cttcacatct tgagtcttcc cctagagttc tgtgactagg ctcccatatg gaacaaccat 5161 attctttgag gggtcactgg ctttaggaca gggaggccag ggaagaggtg ggttggggag 5221 ggagttttgt tggggatgct gttgtataat gatatggtgt agctcagcat ttccaaagac 5281 tgaatacatt atggattgca tagtttaatg //