LOCUS X95808 6126 bp mRNA linear HUM 07-OCT-2008 DEFINITION H.sapiens mRNA for protein encoded by a candidate gene, DXS6673E, for mental retardation. ACCESSION X95808 VERSION X95808.1 KEYWORDS X-linked mental retardation. SOURCE Homo sapiens (human) ORGANISM Homo sapiens Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo. REFERENCE 1 AUTHORS van der Maarel S.M., Scholten I.H.G.M., Huber I., Phillippe C., Suijkerbuijk R.F., Gilgenkrantz S., Kere J., Cremers F.P.M., Ropers H.H. TITLE Cloning and characterization of DXS6673E, a candidate gene for X-linked mental retardation in Xq13.1 JOURNAL Hum. Mol. Genet. 5(7), 887-897(1996). PUBMED 8817323 REFERENCE 2 (bases 1 to 6126) AUTHORS van der Maarel S.M. JOURNAL Submitted (21-FEB-1996) to the INSDC. S.M. Van Der Maarel, Max-Planck-Institut Molekulare Genetik, Ihnestrasse 73, 14195 Berlin (dahlem), FRG FEATURES Location/Qualifiers source 1..6126 /db_xref="H-InvDB:HIT000324936" /organism="Homo sapiens" /chromosome="X" /map="q13.1" /mol_type="mRNA" /db_xref="taxon:9606" mRNA join(<1..706,707..1392,1393..1436,1437..1503,1504..1798, 1799..1976,1977..2195,2196..2346,2347..2462,2463..2549, 2550..2700,2701..2873,2874..3039,3040..3101,3102..3261, 3262..3374,3375..3549,3550..3696,3697..3800,3801..3969, 3970..4121,4122..4236,4237..4491,4492..4609,4610..6092) exon <1..706 /number=1 /experiment="experimental evidence, no additional details recorded" exon 707..1392 /number=2 /experiment="experimental evidence, no additional details recorded" CDS join(726..1392,1393..1436,1437..1503,1504..1798, 1799..1976,1977..2195,2196..2346,2347..2462,2463..2549, 2550..2700,2701..2873,2874..3039,3040..3101,3102..3261, 3262..3374,3375..3549,3550..3696,3697..3800,3801..3969, 3970..4121,4122..4236,4237..4491,4492..4609,4610..4802) /gene="DXS6673E" /note="X-linked mental retardation candidate gene" /db_xref="GOA:Q14202" /db_xref="H-InvDB:HIT000324936.14" /db_xref="HGNC:HGNC:13054" /db_xref="InterPro:IPR010507" /db_xref="InterPro:IPR011017" /db_xref="InterPro:IPR021893" /db_xref="UniProtKB/Swiss-Prot:Q14202" /protein_id="CAA65075.1" /translation="MDPSDFPSPFDPLTLPEKPLAGDLPVDMEFGEDLLESQTAPTRG WAPPGPSPSSGALDLLDTPAGLEKDPGVLDGATELLGLGGLLYKAPSPPEVDHGPEGT LAWDAGDQTLEPGPGGQTPEVVPPDPGAGANSCSPEGLLEPLAPDSPITLQSPHIEEE ETTSIATARRGSPGQEEELPQGQPQSPNAPPSPSVGETLGDGINSSQTKPGGSSPPAH PSLPGDGLTAKASEKPPERKRSERVRRAEPPKPEVVDSTESIPVSDEDSDAMVDDPND EDFVPFRPRRSPRMSLRSSVSQRAGRSAVGTKMTCAHCRTPLQKGQTAYQRKGLPQLF CSSSCLTTFSKKPSGKKTCTFCKKEIWNTKDSVVAQTGSGGSFHEFCTSVCLSLYEAQ QQRPIPQSGDPADATRCSICQKTGEVLHEVSNGSVVHRLCSDSCFSKFRANKGLKTNC CDQCGAYIYTKTGSPGPELLFHEGQQKRFCNTTCLGAYKKKNTRVYPCVWCKTLCKNF EMLSHVDRNGKTSLFCSLCCTTSYKVKQAGLTGPPRPCSFCRRSLSDPCYYNKVDRTV YQFCSPSCWTKFQRTSPEGGIHLSCHYCHSLFSGKPEVLDWQDQVFQFCCRDCCEDFK RLRGVVSQCEHCRQEKLLHEKLRFSGVEKSFCSEGCVLLYKQDFTKKLGLCCITCTYC SQTCQRGVTEQLDGSTWDFCSEDCKSKYLLWYCKAARCHACKRQGKLLETIHWRGQIR HFCNQQCLLRFYSQQNQPNLDTQSGPESLLNSQSPESKPQTPSQTKVENSNTIPVKTR SAPTAPTPPPPPPPATPRKNKAAMCKPLMQNRGVSCKVEMKSKGSQTEEWKPQVIVLP IPVPIFVPVPMHLYCQKVPVPFSMPIPVPVPMFLPTTLESTDKIVETIEELKVKIPSN PLEADILAMAEMIAEAEELDKASSDLCDLVSNQSAEGLLEDCDLFGPARDDVLAMAVK MANVLDEPGQDLEADFPKNPLDINPSVDFLFDCGLVGPEDVSTEQDLPRTMRKGQKRL VLSESCSRDSMSSQPSCTGLNYSYGVNAWKCWVQSKYANGETSKGDELRFGPKPMRIK EDILACSAAELNYGLAQFVREITRPNGERYEPDSIYYLCLGIQQYLLENNRMVNIFTD LYYLTFVQELNKSLSTWQPTLLPNNTVFSRVEEEHLWECKQLGVYSPFVLLNTLMFFN TKFFGLQTAEEHMQLSFTNVVRQSRKCTTPRGTTKVVSIRYYAPVRQRKGRDTGPGKR KREDEAPILEQRENRMNPLRCPVKFYEFYLSKCPESLRTRNDVFYLQPERSCIAESPL WYSVIPMDRSMLESMLNRILAVREIYEELGRPGEEDLD" exon 1393..1436 /number=3 /experiment="experimental evidence, no additional details recorded" exon 1437..1503 /number=4 /experiment="experimental evidence, no additional details recorded" exon 1504..1798 /number=5 /experiment="experimental evidence, no additional details recorded" exon 1799..1976 /number=6 /experiment="experimental evidence, no additional details recorded" exon 1977..2195 /number=7 /experiment="experimental evidence, no additional details recorded" exon 2196..2346 /number=8 /experiment="experimental evidence, no additional details recorded" exon 2347..2462 /number=9 /experiment="experimental evidence, no additional details recorded" exon 2463..2549 /number=10 /experiment="experimental evidence, no additional details recorded" exon 2550..2700 /number=11 /experiment="experimental evidence, no additional details recorded" exon 2701..2873 /number=12 /experiment="experimental evidence, no additional details recorded" exon 2874..3039 /number=13 /experiment="experimental evidence, no additional details recorded" exon 3040..3101 /number=14 /experiment="experimental evidence, no additional details recorded" exon 3102..3261 /number=15 /experiment="experimental evidence, no additional details recorded" exon 3262..3374 /number=16 /experiment="experimental evidence, no additional details recorded" exon 3375..3549 /number=17 /experiment="experimental evidence, no additional details recorded" exon 3550..3696 /number=18 /experiment="experimental evidence, no additional details recorded" exon 3697..3800 /number=19 /experiment="experimental evidence, no additional details recorded" exon 3801..3969 /number=20 /experiment="experimental evidence, no additional details recorded" exon 3970..4121 /number=21 /experiment="experimental evidence, no additional details recorded" exon 4122..4236 /number=22 /experiment="experimental evidence, no additional details recorded" exon 4237..4491 /number=23 /experiment="experimental evidence, no additional details recorded" exon 4492..4609 /number=24 /experiment="experimental evidence, no additional details recorded" exon 4610..6092 /number=25 /experiment="experimental evidence, no additional details recorded" BASE COUNT 1430 a 1697 c 1656 g 1343 t ORIGIN 1 cagacaagga cagaaagggg gctggaggag aaagagagag agagatacag agagagagag 61 agagagagag agagagagag agagagagat cagccctggt gagggaggaa aactccatag 121 ataatacagg gagctcctgc aggaagactc agggagaaga tcccagaact taccctaaga 181 ctgttgagag agtagggggt agctttgcag gacctggttt gggggtcatc aagcagtaac 241 ggttactgca caggcgttgc cactgagcca gagccattta acccgacctg tgtggctggg 301 gatcaagctt cagatacccc ataactctga ctctcagact gttttggggg ccccgtggct 361 gcagacaagg gaaggagggg cacgtgaggg ctgggtccct gcctcccccc gtcctccgct 421 gtcactcact accccaacag tcgcccaggg ggcgggcccc ggagaggtgg ggatggggga 481 gggtaatctt ggcaggcgcc tgctgcatgg cgtaggtagg gactattgag gggggcggac 541 gccgaggggg tgaacacgag tgggaagcta agagagacac ggggaggggg aggggaccgg 601 gaaccatttg aatgagagga ggggatcacg ggtagagtgg gctccaggag gtagggcgag 661 cagggtgtga cgggggccag actcttgagc caggtaaggg gagcagtaca tatccagcca 721 tactcatgga ccccagtgat ttccccagtc catttgaccc attgaccctg ccagagaagc 781 ccctggctgg agacctacca gtagacatgg aatttggaga ggatctactg gaatcccaga 841 ctgccccaac tcgaggatgg gccccccctg gcccttctcc atcctcggga gccctggacc 901 tgcttgatac ccctgctggc ctggaaaaag accctggagt cctggatgga gccactgagt 961 tgctggggct gggggggctg ctctataaag ccccctctcc cccggaggtg gaccacggtc 1021 ctgagggaac cctggcatgg gatgcaggag atcagaccct agagcctgga ccagggggcc 1081 agacccctga ggtggtacca cctgatccag gggctggggc aaattcctgt tcacctgagg 1141 ggctactaga gcctttggct ccagattctc caataacact gcagtcccca catattgaag 1201 aggaggagac cacctccata gctactgcaa gaaggggctc ccctgggcag gaggaggagc 1261 ttccccaagg gcagccacag agcccaaatg ccccgcctag cccttcagtg ggagagactc 1321 tgggggatgg aatcaacagt tctcagacca aacctggggg ctctagcccc cctgcacatc 1381 cttccttgcc aggagatggc ctgactgcga aggcgagtga gaagccgcct gaacggaaga 1441 gaagcgagcg cgttaggaga gcagaacctc caaaacctga ggttgtagat tccactgaga 1501 gcattccagt gtcagatgag gattctgatg ccatggtaga tgaccccaat gatgaggact 1561 ttgtgccatt ccggccccgg cgctctcctc gcatgtccct acgctcaagt gtgtcacaaa 1621 gggccgggcg ctctgcagtg ggcaccaaga tgacttgtgc acattgccgg acaccactgc 1681 agaaggggca gactgcctat cagcgcaagg ggctgcctca gctcttctgc tcgtcatcct 1741 gcctcaccac tttctccaag aagccctcgg gcaaaaagac ctgtaccttc tgcaagaagg 1801 agatctggaa caccaaggac tcggttgtgg cgcagactgg ttctggaggc tccttccatg 1861 agttctgcac atccgtctgt ctctccctgt atgaggccca gcagcagcgc ccgatccccc 1921 agtctgggga tcccgccgac gctactcgct gcagcatatg ccagaagact ggagaggtcc 1981 tgcacgaggt cagcaatggc agcgtggtac accggctctg cagcgattct tgcttctcca 2041 aattccgggc caacaaggga ctgaaaacca actgttgtga ccagtgtggg gcttacatct 2101 acaccaagac cgggagtcct ggccctgagc tcctcttcca cgagggccaa caaaagcggt 2161 tctgcaacac aacctgcttg ggggcgtaca agaagaaaaa cacacgtgtg tacccatgtg 2221 tctggtgcaa gaccctgtgt aagaactttg agatgctatc acatgtggat cgtaatggca 2281 agaccagctt gttctgttcc ctgtgctgta ccacttctta caaagtgaag caggcagggc 2341 tcactggccc tccccgaccc tgcagcttct gccgccgcag cctctctgac ccctgttact 2401 acaacaaggt tgaccgcaca gtctaccagt tctgcagccc cagctgctgg accaagttcc 2461 agcgcacaag ccctgagggg ggcattcacc tgagctgtca ctactgtcac agcctcttca 2521 gtggcaagcc tgaggtcttg gactggcagg accaagtgtt ccagttctgc tgccgtgatt 2581 gctgtgagga cttcaagcgg cttcggggtg tggtgtccca gtgtgagcac tgtcggcagg 2641 agaaactctt gcatgagaaa ctccgattca gcggagtgga gaaaagcttc tgcagcgaag 2701 gctgtgtgct gctgtacaaa caggacttca ctaagaagct gggcttgtgc tgtatcactt 2761 gtacttactg ctcccagacc tgccagcgcg gagtcaccga gcaactggat ggcagcacct 2821 gggacttctg cagtgaggac tgtaagagca agtacctgct gtggtactgc aaggctgccc 2881 ggtgccatgc gtgtaagcgc caggggaagc tgctggagac catccactgg cgtgggcaga 2941 tccgtcattt ctgcaaccag cagtgtcttc tgcgtttcta tagccagcag aaccaaccca 3001 acctggatac ccagagtggg cccgagagcc tcctgaacag tcagtctcct gagtcaaaac 3061 cccagacacc ctctcaaacc aaagtggaga acagcaacac aatccctgtg aagacccgat 3121 cagctcccac tgctcccacc cctccacccc caccaccccc agcaacaccc cgcaaaaaca 3181 aggctgccat gtgtaagcca ctgatgcaga atcggggcgt ctcctgcaag gtggagatga 3241 agtccaaagg aagtcaaaca gaagagtgga agccacaggt gatcgtgctg cccatcccag 3301 tgcccatctt cgtgccagtg cctatgcatc tgtactgcca gaaagtcccg gtgcctttct 3361 cgatgcctat cccggtgcct gtgcccatgt tcttgcccac taccttggag agcacagaca 3421 agattgtaga gaccattgag gagctgaagg tgaagatccc ttccaacccc ttggaggccg 3481 acatcctggc tatggcagaa atgattgcag aggctgagga gttagacaag gcctcatctg 3541 acctttgtga tcttgtgagc aaccagagtg cagagggact cctggaagac tgtgacctgt 3601 ttgggcctgc tcgagatgat gtcctggcca tggcagtcaa gatggccaat gtcttggatg 3661 agcctgggca agacttggag gcagacttcc ctaagaatcc tctggacatt aatcccagtg 3721 tagacttcct ctttgattgt ggcctggtag ggcctgagga tgtgtctact gaacaagacc 3781 ttccccgaac catgaggaag ggtcaaaagc ggctggtgct ttccgaaagc tgctcccggg 3841 actccatgag cagtcagcct agttgtaccg ggctcaacta ttcatatggt gtcaatgctt 3901 ggaagtgctg ggtgcagtca aaatatgcca atggagaaac cagcaagggt gatgagctgc 3961 gctttggccc caaacccatg cgtatcaaag aggatattct cgcctgctca gctgctgagc 4021 tcaactacgg tctggcccag tttgtgagag aaatcactcg gcccaatggt gaacgatatg 4081 aacctgacag tatctactat ttgtgtcttg gcatccagca gtacttgctg gaaaataacc 4141 ggatggtgaa cattttcacg gacctttact acctgacttt tgttcaagaa ctcaacaagt 4201 ctctgagtac ctggcagccc acactcctcc ccaacaatac ggtgttctct cgagtggagg 4261 aggagcacct ctgggagtgt aagcaactgg gggtctactc gccctttgtc ctcctcaaca 4321 ccctcatgtt cttcaacact aagttttttg ggctgcagac agctgaggaa cacatgcaac 4381 tctccttcac caatgtggtg cggcagtccc gcaagtgtac cacccctcgg ggcaccacca 4441 aggtggtgag catccgctac tatgccccag tccgccagag gaaagggcga gacacgggtc 4501 ctggaaaacg gaagagagaa gatgaagccc ctatcttaga gcagcgtgag aaccgcatga 4561 atcccctccg ctgccctgtc aagttctatg aattctatct ctcaaaatgt cctgaaagcc 4621 tccggactcg caacgatgtg ttctacctgc aacctgaacg gtcctgcatc gccgagtcac 4681 ctctctggta ttctgtgatc cccatggacc gcagcatgtt ggagagcatg ctcaatcgca 4741 tcctggctgt gcgcgagatt tatgaggaac tgggtcgtcc tggggaggaa gacctggact 4801 gagctcgtgt gccatccata tccatctttc acatcaatgt ctgtcctgtg gccatgtccc 4861 tcagggtgac aggcccagga accaatgcta ctcattctga agggccctga ctgctccttt 4921 ccgctcaccc attccctgcc ttctctagga accctggctt ttatcttctt ccgtaccact 4981 tgacaaccat ggggccctgg tcttctgtac tcaggggctg gtctcccagt gatgggcaaa 5041 agccagcttg cccgttttct ttatgcttca gagtaaaccc ctccttctgg gtccagactc 5101 tgggtggagt gttaatagct ctggtgatcc tgttggcttt gggtttcctg acccatcccg 5161 cataggtaga gcctcttgtt cctaggcatg acctagggaa aaacccagct gccttctctg 5221 ccctgtgccc actcccttct ctactcttcc ccagcaccat gccaaaaggt cttatctgaa 5281 aggtaagaaa taaacaatga aagcgatgag gggaccattt acataaaaca cagagcttag 5341 acactcttcc cctcctatga aataattggt tgttggcacc atctcaccac cgcatatccc 5401 tcaccccctg gcaagcacca atccttggtg ctgccgtttt taaaatcttc caaatgcctt 5461 tttttcctca gaggcagaga atgactaagt acggggagca gactcctgtt gtgcagactc 5521 ctgtcccctt ggtttctgtg tttgtctctc tgccatctta ggttgccatg agccatggtg 5581 tcaacatgct tagccccctc tgtaactgcc tccctttagt tcaatggaca gacctcccaa 5641 ggcaaaaact accttctgac ttgggttaga ggctgggttc ccctctattg ttcccctatc 5701 ataagagcta ggccaagcct atgggacctt gagtcatgca ggatgggatc tgtggtcaaa 5761 ggacaggcga ggagctgtgg gcgcagggcc tgccgccact gcctacatct tctctcttcc 5821 ccatcttgca ttggaggtcc cagaaaacaa ttagcttctg gcaaaggggg tacccacttc 5881 tttccctgtt gactttgctg tttcccaggc tcctttttgt gtttttataa ctgtcaccag 5941 ttagccactg tttaaattgt atatattgtt ctgaggcgcc tggcctgtcc cttcagtgag 6001 ccatgcccac ccttgtgttg tagtgagaag ctgttgtcac gactaacctt ctgtctctga 6061 aattgtttgt ttcaaataaa gagttaaaat tgaaaaaaaa aaaaaaaaaa aaaataaaaa 6121 aaaaaa //