LOCUS AJ001189 7350 bp mRNA linear HUM 07-OCT-2008
DEFINITION Homo sapiens mRNA for oligophrenin 1.
ACCESSION AJ001189
VERSION AJ001189.1
KEYWORDS oligophrenin 1.
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 7350)
AUTHORS Chelly J.
JOURNAL Submitted (12-JAN-1998) to the INSDC. CHELLY J., INSERM U129- ICGM,
CHU COCHIN, 24 rue du Fg St Jacques, 75014, FRANCE.
REFERENCE 2
AUTHORS Bienvenu T., Der-Sarkissian H., Billuart P., Tissot M.,
des Portes V., Bruls T., Chabrolle J.P., Chauveau P., Cherry M.,
Kahn A., Cohen D., Beldjord C., Chelly J., Cherif D.
TITLE Mapping of the X-breakpoint involved in a balanced X;12
translocation in a female with mild mental retardation
JOURNAL Eur. J. Hum. Genet. 5(2), 105-109(1997).
PUBMED 9195162
REFERENCE 3
AUTHORS Billuart P., Bienvenu T., Ronce N., des Portes V., Vinet M.C.,
Zemni R., Roest Crollius H., Carrie A., Fauchereau F., Cherry M.,
Brillaut S., Hamel B., Fryns J.P., Beldjord C., Kahn A.,
Moraine C., Chelly J.
TITLE Oligophrenin-1 encodes a rhoGAP protein involved in X-linked mental
retardation
JOURNAL Nature 392(6679), 923-926(1998).
PUBMED 9582072
FEATURES Location/Qualifiers
source 1..7350
/db_xref="H-InvDB:HIT000243847"
/organism="Homo sapiens"
/chromosome="X"
/map="Xq12"
/mol_type="mRNA"
/tissue_type="Mainly in fetal brain"
/db_xref="taxon:9606"
CDS 639..3047
/codon_start=1
/product="oligophrenin 1"
/db_xref="GOA:O60890"
/db_xref="H-InvDB:HIT000243847.14"
/db_xref="HGNC:HGNC:8148"
/db_xref="InterPro:IPR000198"
/db_xref="InterPro:IPR001849"
/db_xref="InterPro:IPR008936"
/db_xref="InterPro:IPR011993"
/db_xref="InterPro:IPR027267"
/db_xref="UniProtKB/Swiss-Prot:O60890"
/protein_id="CAA04579.1"
/translation="MGHPPLEFSDCYLDSPDFRERLKCYEQELERTNKFIKDVIKDGN
ALISAMRNYSSAVQKFSQTLQSFQFDFIGDTLTDDEINIAESFKEFAELLNEVENERM
MMVHNASDLLIKPLENFRKEQIGFTKERKKKFEKDGERFYSLLDRHLHLSSKKKESQL
QEADLQVDKERHNFFESSLDYVYQIQEVQESKKFNIVEPVLAFLHSLFISNSLTVELT
QDFLPYKQQLQLSLQNTRNHFSSTREEMEELKKRMKEAPQTCKLPGQPTIEGYLYTQE
KWALGISWVKYYCQYEKETKTLTMTPMEQKPGAKQGPLDLTLKYCVRRKTESIDKRFC
FDIETNERPGTITLQALSEANRRLWMEAMDGKEPIYHSPITKQQEMELNEVGFKFVRK
CINIIETKGIKTEGLYRTVGSNIQVQKLLNAFFDPKCPGDVDFHNSDWDIKTITSSLK
FYLRNLSEPVMTYRLHKELVSAAKSDNLDYRLGAIHSLVYKLPEKNREMLELLIRHLV
NVCEHSKENLMTPSNMGVIFGPTLMRAQEDTVAAMMNIKFQNIVVEILIEHFGKIYLG
PPEESAAPPVPPPRVTARRHKPITISKRLLRERTVFYTSSLDESEDEIQHQTPNGTIT
SSIEPPKPPQHPKLPIQRSGETDPGRKSPSRPILDGKLEPCPEVDVGKLVSRLQDGGT
KITPKATNGPMPGSGPTKTPSFHIKRPAPRPLAHHKEGDADSFSKVRPPGEKPTIIRP
PVRPPDPPCRAATPQKPEPKPDIVAGNAGEITSSVVASRTRFFETASRKTGSSQGRLP
GDES"
BASE COUNT 2027 a 1619 c 1742 g 1962 t
ORIGIN
1 tgtgcgtcgc gctctcgccc tcctcttccc gctgcagtgt ctatggagcg aggctacgtt
61 tcattgccgc cctggcttaa cccttccggc gcctaaaagg acggccggcc ggccggtccc
121 ttgcaccagg aagaagtctt agcagccagc gggccctggt caggaaactc taaggtacaa
181 ggaaaacagt tgaggaagga gccagagcgc tccggtttgg tcctcgggct tcgctggggc
241 ggggcgcagg cgttggcttt aagaaagggg aggggacagt gcaatccggg ttgcccgcgg
301 attcggccaa ggaatcttcc gctcgctccg gagcgaggag cctgtaaaga ggctgttccc
361 agctccagct ctaacctcgc ctacaccttg ggcgggccca atgtcacgtt tgcaattgct
421 caggaaggat ccggcccgtc tccggaggca agtcgggctg cggtttttgc tgcttatctg
481 ggaaggcgat gcctaaggga catgctgctt gctaggcagc accctgccgg gatccgactg
541 cgatagttag ctctccctgg ccctgaagcc atcgccgggg cgcctgttct ctgtccggac
601 cagccagcgc tcctcaggag tctcactgaa acagaaccat gggtcatccc ccgctggagt
661 tcagcgactg ctacctggac agccccgatt tccgcgagag gctcaagtgt tatgagcagg
721 aactggagag gaccaacaaa ttcatcaaag acgtaatcaa agacggcaac gcgcttatca
781 gcgctatgag aaattattct tctgctgttc agaaattttc ccagacgctg cagtcatttc
841 agtttgattt cattggagac actctgactg atgatgaaat taacatcgct gaatccttca
901 aggaatttgc tgaattgctc aacgaggtag aaaatgagag gatgatgatg gtacacaatg
961 ctagtgattt gctgattaaa cccttggaaa atttccggaa ggaacaaata ggcttcacca
1021 aggagcggaa aaagaaattt gaaaaggatg gtgagaggtt ttattcttta ctggatcggc
1081 acttacacct gtcttcaaaa aagaaagaat ctcagttaca agaggcagac ctacaggtgg
1141 acaaggagag gcacaatttt ttcgagtcct ctcttgatta tgtttatcaa atccaggaag
1201 ttcaggagtc caagaagttc aatattgtgg agcctgtctt ggcctttctt catagtctgt
1261 tcatttctaa cagcctgact gtggagctca cacaggattt cctcccatac aaacaacagc
1321 tccaactcag tttacagaat acaagaaatc atttctccag tacccgggaa gagatggaag
1381 aacttaagaa aaggatgaaa gaagctcccc agacatgcaa acttccagga cagccaacta
1441 ttgaaggcta tctctataca caagagaaat gggctttagg aatatcctgg gtgaaatact
1501 attgccagta tgagaaagag accaaaacac tgaccatgac gcctatggag cagaagccag
1561 gtgctaagca ggggcccttg gacttaacac tgaagtactg tgtgagaagg aagacggagt
1621 ctatcgacaa gaggttctgt tttgacatag aaactaatga aaggccagga accatcactc
1681 tgcaggccct ttcagaagct aacagaaggc tatggatgga agccatggat gggaaagaac
1741 ctatctacca cagccctata acaaaacagc aagaaatgga gctaaatgaa gtgggcttca
1801 agtttgtcag gaagtgcatc aatattattg agaccaaagg gatcaagaca gaagggttgt
1861 accgcactgt gggcagcaat attcaggttc agaagctgct gaatgccttt tttgatccta
1921 aatgcccagg agatgttgat tttcataata gtgactggga cattaagaca atcaccagct
1981 ccttgaaatt ctacctcagg aatctttctg aacctgtcat gacctataga cttcacaaag
2041 agctggtctc tgctgccaag tctgacaacc tggattaccg cctaggagct attcactccc
2101 tggtatataa gctaccagaa aagaaccgag agatgctgga acttctgata agacacttgg
2161 tcaatgtgtg tgagcacagc aaagagaatc ttatgacccc ctccaacatg ggagtaatct
2221 ttgggcccac cctgatgaga gctcaggagg acactgtggc cgccatgatg aacatcaaat
2281 tccagaacat agtggtggaa atactaatcg agcactttgg caagatctat ttaggtccac
2341 ctgaggaaag cgctgcaccg ccagtgcctc cgcctcgggt gacagcaaga aggcacaaac
2401 caatcacgat ttcaaagcgc ttgctgcgag aaaggacggt tttctatact tcttccctgg
2461 atgaaagcga agatgaaatc caacatcaaa caccgaatgg tactatcacc agcagcatag
2521 aaccccccaa gccaccacaa caccccaaac tacctattca gaggagtggg gaaactgatc
2581 ctgggaggaa gtccccaagc aggcctattt tggatggcaa gttggagccc tgcccagagg
2641 tggacgtggg gaagttggtg tctaggctgc aggatggagg gaccaagatc accccaaagg
2701 ccaccaatgg acccatgcca ggctctgggc ccaccaagac cccctctttc cacataaaga
2761 gaccagctcc ccggcccctg gcccaccaca aggaggggga tgctgacagt ttcagcaaag
2821 tgcggcctcc aggagaaaag ccaaccatca tccgcccccc agtgaggccc ccagatcctc
2881 cctgccgggc agctactccc caaaagccag aaccaaagcc agatattgtg gctggcaatg
2941 cgggggaaat cacatcatct gtggtggctt ccaggaccag gttttttgaa acagcttccc
3001 ggaaaacagg aagttctcaa ggcagacttc ctggagatga aagttgaggc tacaggtttt
3061 aaaagccttg gcctcagagg accctttcca ggttctgaaa gagtctttct tcttcaaacc
3121 tttgtgtgcg gagtcatttt gtgttgaaga gcagctcctt cctagccttg cactttcaga
3181 ctctctctgg gaggccataa aataaggagc atatgtccta gacaggtgtt tatatctcct
3241 ttgtattctg tcttcatccc ctcagaaggt ctgttttgag ttcctataac actgtgaaga
3301 gctggactcc ctcaagccag actctgccaa aaccaagata tccacttacc tgagttgaag
3361 aggggagctc agttttcaac tcttccctga acttcctgct tcctcagagg gccattgaac
3421 tctgagagat ttggggctaa agactgatct caggggtctt accttgaact gaaggccact
3481 tgagttgggg ccattgctta ccttggttgg aagggaatag aaatgtttgc tgaacattgg
3541 agaatctcaa catgtctcct actgaggata tggacactgg tgccatgtca gcgctctggt
3601 gctgcagtat gttgccaaga gcccgtctgc tcctgcgagg ctatgagtgg gatgagtgat
3661 gcccccacag cacctccatg tggacttagg aaggtggcct tcctgctgtt acatgcagcc
3721 acttaggaca aatctgcaaa gcatgttttg catgtaaaag cctaggtcta tttggattat
3781 tctttctcct tttttttgac agcttcctgt caagcaatca agaaacaaac aaaagctgaa
3841 cacatttcct tttaaaaaaa ggagactgtg tttggtcctg taggagttct attttggggt
3901 caaatgctag aaaaattgtt aaggtggatt gaggccaggc agctgtcact gctgcttcat
3961 gtttgccttc tgcacataaa ctcttttatc tcctgaaaaa agcagttctt aacccagtgt
4021 ccatggactc agaaactcca tgatgcccct gagatggtat gcacaattcc atgacaatat
4081 gccctttctg gggagatagt ccataatgtt ctgctaaatt tcaaatgggc tcgtgaccca
4141 aaaaagtcaa gaaccacagc acttgagtta aaatactctt tttacaatcc atataagccc
4201 ttgattggaa gggcttttca aaatcattta gtctaacaac tgcccagttt ccagtcgggg
4261 gaactgaggc agagcaaggt agtgatcaca ccagtacaag atttcaggtc ccaggctcct
4321 atgcaagttt tttttcccca ttatatcaca cttatttagc aagggacctt gtggtttgtg
4381 gctttagtgg ccatcatttc tgggggttgg cttttaccct ttttcttgaa tatttgccac
4441 caagtgaaaa atgttaggac ataaaccctt gccaggtccc tttcatttgc tatctctatt
4501 attggaaagg acctaaaaat tggtgtaatg gggcagaaat ctgaggaatg gacatttcta
4561 attcctgttt gttgaaggga agttgctgga aagagcatca gtacttgttt ctatgcagat
4621 gcctgggccg tagcttgtct gtagcgtctg tataattata atgttgccca gtgtgaggga
4681 aagagctttc ctacttgcac tcttctacca aggccctgtt agtgcactga ttatagtact
4741 gacagataaa gcctagatga gagagataga gagtgagtac atgcacactc atgtgcaaac
4801 ccactcagag atgcatttgg aacagtgcta ctgaaaggca gtagtcattt tcaagactga
4861 attccaaaca tggtttattg gtgagttagg aacatgtaag gccaagtaca ctgagagcct
4921 ttttgaaagt aattgagtgg aaacttgatg ccattctaaa tcaaggcata tccaggtggc
4981 ccggtttgaa ctcactccac tgtacccagt ctcaaaggcc aggttgctaa gaaaccagga
5041 gtaaaagagt caagtgacca tcatttcacc tgctgcttgc ccccaatagt agtctctgtg
5101 aggccttact gacctcacct aggaagtgat ttttgagccc ttgtttcagg gctgtggcct
5161 ccctgctcta tcctgaataa agcagacagg tgtgcagatt ttggccatga aagcatggct
5221 aatagggcca cagtcccttt aaagaaacat ggtttgactc tggttttctt gggggaaaat
5281 accacaatca ccgatgcaaa cattggaaga ttattgagag ccctagaaag ctgctgtgat
5341 cccagtagaa aatatgtccc agaaatgtca tgagattgct gtgtgttgcc tgggacacag
5401 atcaagggcc tatcttggag agctggggac cagcagtctg cctggaggcc agggagcagt
5461 ggctgagtag ctctgccttt gctctggtct ataccttaag aatgccaaag aatgaatttc
5521 aacgcctgcc tttggcactc tgacttaaag tgcaaaaagc ttctgtggcg aggcatgcta
5581 tcatggaatg agactggctt gccctaggct taatggatgg gcagtcattt tgcagaggct
5641 atgggaagag ggtgataata gaagagtggc agctatagga aattatcaac ataccttggc
5701 cagcaagtta gagaatctgg caatggatga actgaaagtg atgaactggc agggataaca
5761 aagaacctaa catttattaa gcacgtattt attaactgct cagtgtttca tattcatgca
5821 agtattctca ttttacagag aaagaaatta tggcccaggg ggctaaagta aacaactcaa
5881 gggcacatag aaagtaaata aaaggactgt gatttgaatc caggccactc ttagcccatg
5941 ctgttttccc tttgccacac tgtggtaggt gtttgaacag aggccacatt actagagttg
6001 gcatgactct tgactcttgc ctgcctaaca aaatattgaa aggcaaacat ttgaaggagg
6061 gagggggtgc aggttcagtt tatatggaaa tgcaaactgg gctggaagat attcctgagt
6121 taggctttct cttcatattc agcttgcaca tttggtaatg tttttaaaat gatcatctaa
6181 ttttattttg tgaagtgaag gatttgtgtt ttagttggca gttgttaagt ccttggcttg
6241 ccatttttca aaaagtaaaa aggtcctcac aggtgtctcc atacttcgcc aaggttgtag
6301 catgggcagt ttcagtttca gcctaagaga ctggtgacat ccacaaatgc agttttagaa
6361 gcagaaaagg tcttggtgcc tctgcagtac ttgatgtatt ggggtcaaat ctctacaaat
6421 ttttctgtgg tgatagcaaa atcaagagat ggcttacaaa aagaaatatt gaatttttat
6481 ttttgaagtt tttgtttttt aaaaggttgg gggtgttcag ccactgaggg acaaaactta
6541 gcatctaatt tcaattatag tgtcatgcag agtatttcta aagtaattgg ttatcatggg
6601 aaagtattct cttttcaaga agttctttga ttctgtaata actagaacaa ataaagtagt
6661 aaaagaagaa atagttctgt gactaggaaa aaattgcttt tgagagaaca tagatcaatt
6721 atactacttc taaggtagct gcagataagt ggccttgaca cattacaagc ctggaaaaaa
6781 acatcagaaa taataaaaaa tttcagagag aatcaagata cctttttttt tctttttttt
6841 ttcttttttt tattatactc taagttttag ggtacatgtg cacattgtgc aggttagtta
6901 catatgtata catgtgccat gctggtgcgc tgcacccact aatgtgtcat ctagcattag
6961 gtatatctcc cagtgctatc cctcccccct cccccgaccc caccacagtc cccagagtgt
7021 gatattcccc ttcctgtgtc catgtgatct cattgttcaa ttcccaccta tgagtgagaa
7081 tatgcggtgt ttggtttttt gttcttgcga tagtttactg agaatgatgg tttccaattt
7141 catccatgtc cctacaaagg atatgaactc atcatttttt atggctgcat agtattccat
7201 ggtgtatatg tgccacattt tcttaatcca gtctatcatt gttggacatt tgggttggtt
7261 ccaagtcttt gctattgtga atagtgccgc aataaacata cgtgtgcatg tgtctttata
7321 gcagcatgat ttatactcat ttgggtatat
//