LOCUS X78121 2115 bp mRNA linear HUM 07-OCT-2008
DEFINITION Homo sapiens choroideremia mRNA.
ACCESSION X78121
VERSION X78121.1
KEYWORDS choroideremia gene; rab geranylgeranyl transferase.
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 Bokhoven H.
TITLE Cloning and characterization of the human choroideremia gene
JOURNAL Hum. Mol. Genet. 3(7), 1041-1046(1994).
PUBMED 7981670
REFERENCE 2
AUTHORS van Bokhoven H.
JOURNAL Submitted (11-MAR-1994) to the INSDC. H. van Bokhoven, Human
Genetics Department, University Hospital Nijmegen, PO Box 9101,
6500 HB Nijmegen, NETHERLANDS
REMARK Revised by [3]
REFERENCE 3 (bases 1 to 2115)
AUTHORS van Bokhoven H.
JOURNAL Submitted (03-MAR-1998) to the INSDC. H. van Bokhoven, Human
Genetics Department, University Hospital Nijmegen, PO Box 9101,
6500 HB Nijmegen, NETHERLANDS
FEATURES Location/Qualifiers
source 1..2115
/db_xref="H-InvDB:HIT000323655"
/organism="Homo sapiens"
/chromosome="X"
/map="Xq21.2"
/mol_type="mRNA"
/dev_stage="fetus, adult"
/clone_lib="commercial fetal brain libr., adult retina
library, fetal retina library"
/cell_line="HER XC2 (retina)"
/tissue_type="retina, brain"
/db_xref="taxon:9606"
mRNA join(<1..79,80..146,147..219,220..343,344..732,733..849,
850..970,971..1196,1197..1274,1275..1379,1380..1443,
1444..1540,1541..1639,1640..1800,1801..>1992)
/gene="CHM"
/experiment="experimental evidence, no additional details
recorded"
exon <1..79
/number=1
/experiment="experimental evidence, no additional details
recorded"
CDS 31..1992
/gene="CHM"
/product="choroidermia, Rab geranylgeranyltransferase
component A (REP-1)"
/db_xref="GOA:P24386"
/db_xref="H-InvDB:HIT000323655.14"
/db_xref="HGNC:HGNC:1940"
/db_xref="InterPro:IPR001738"
/db_xref="InterPro:IPR018203"
/db_xref="InterPro:IPR036188"
/db_xref="UniProtKB/Swiss-Prot:P24386"
/protein_id="CAA55011.1"
/translation="MADTLPSEFDVIVIGTGLPESIIAAACSRSGRRVLHVDSRSYYG
GNWASFSFSGLLSWLKEYQENSDIVSDSPVWQDQILENEEAIALSRKDKTIQHVEVFC
YASQDLHEDVEEAGALQKNHALVTSANSTEAADSAFLPTEDESLSTMSCEMLTEQTPS
SDPENALEVNGAEVTGEKENHCDDKTCVPSTSAEDMSENVPIAEDTTEQPKKNRITYS
QIIKEGRRFNIDLVSKLLYSRGLLIDLLIKSNVSRYAEFKNITRILAFREGRVEQVPC
SRADVFNSKQLTMVEKRMLMKFLTFCMEYEKYPDEYKGYEEITFYEYLKTQKLTPNLQ
YIVMHSIAMTSETASSTIDGLKATKNFLHCLGRYGNTPFLFPLYGQGELPQCFCRMCA
VFGGIYCLRHSVQCLVVDKESRKCKAIIDQFGQRIISEHFLVEDSYFPENMCSRVQYR
QISRAVLITDRSVLKTDSDQQISILTVPAEEPGTFAVRVIELCSSTMTCMKGTYLVHL
TCTSSKTAREDLESVVQKLFVPYTEMEIENEQVEKPRILWALYFNMRDSSDISRSCYN
DLPSNVYVCSGPDCGLGNDNAVKQAETLFQEICPNEDFCPPPPNPEDIILDGDSLQPE
ASESSAIPEANSETFKESTNLGNLEESSE"
exon 80..146
/number=2
/experiment="experimental evidence, no additional details
recorded"
exon 147..219
/number=3
/experiment="experimental evidence, no additional details
recorded"
exon 220..343
/number=4
/experiment="experimental evidence, no additional details
recorded"
exon 344..732
/number=5
/experiment="experimental evidence, no additional details
recorded"
exon 733..849
/number=6
/experiment="experimental evidence, no additional details
recorded"
exon 850..970
/number=7
/experiment="experimental evidence, no additional details
recorded"
exon 971..1196
/number=8
/experiment="experimental evidence, no additional details
recorded"
exon 1197..1274
/number=9
/experiment="experimental evidence, no additional details
recorded"
exon 1275..1379
/number=10
/experiment="experimental evidence, no additional details
recorded"
exon 1380..1443
/number=11
/experiment="experimental evidence, no additional details
recorded"
exon 1444..1540
/number=12
/experiment="experimental evidence, no additional details
recorded"
exon 1541..1639
/number=13
/experiment="experimental evidence, no additional details
recorded"
exon 1640..1800
/number=14
/experiment="experimental evidence, no additional details
recorded"
exon 1801..>1992
/number=15
/experiment="experimental evidence, no additional details
recorded"
BASE COUNT 684 a 401 c 461 g 569 t
ORIGIN
1 taatagtcac atgacacgtt tcccgtcaag atggcggata ctctcccttc ggagtttgat
61 gtgatcgtaa tagggacggg tttgcctgaa tccatcattg cagctgcatg ttcaagaagt
121 ggccggagag ttctgcatgt tgattcaaga agctactatg gaggaaactg ggccagtttt
181 agcttttcag gactattgtc ctggctaaag gaataccagg aaaacagtga cattgtaagt
241 gacagtccag tgtggcaaga ccagatcctt gaaaatgaag aagccattgc tcttagcagg
301 aaggacaaaa ctattcaaca tgtggaagta ttttgttatg ccagtcagga tttgcatgaa
361 gatgtcgaag aagctggtgc actgcagaaa aatcatgctc ttgtgacatc tgcaaactcc
421 acagaagctg cagattctgc cttcctgcct acggaggatg agtcattaag cactatgagc
481 tgtgaaatgc tcacagaaca aactccaagc agcgatccag agaatgcgct agaagtaaat
541 ggtgctgaag tgacagggga aaaagaaaac cattgtgatg ataaaacttg tgtgccatca
601 acttcagcag aagacatgag tgaaaatgtg cctatagcag aagataccac agagcaacca
661 aagaaaaaca gaattactta ctcacaaatt attaaagaag gcaggagatt taatattgat
721 ttagtatcaa agctgctgta ttctcgagga ttactaattg atcttctaat caaatctaat
781 gttagtcgat atgcagagtt taaaaatatt accaggattc ttgcatttcg agaaggacga
841 gtggaacagg ttccgtgttc cagagcagat gtctttaata gcaaacaact tactatggta
901 gaaaagcgaa tgctaatgaa atttcttaca ttttgtatgg aatatgagaa atatcctgat
961 gaatataaag gatatgaaga gatcacattt tatgaatatt taaagactca aaaattaacc
1021 cccaacctcc aatatattgt catgcattca attgcaatga catcagagac agccagcagc
1081 accatagatg gtctcaaagc taccaaaaac tttcttcact gtcttgggcg gtatggcaac
1141 actccatttt tgtttccttt atatggccaa ggagaactcc cccagtgttt ctgcaggatg
1201 tgtgctgtgt ttggtggaat ttattgtctt cgccattcag tacagtgcct tgtagtggac
1261 aaagaatcca gaaaatgtaa agcaattata gatcagtttg gtcagagaat aatctctgag
1321 catttcctcg tggaggacag ttactttcct gagaacatgt gctcacgtgt gcaatacagg
1381 cagatctcca gggcagtgct gattacagat agatctgtcc taaaaacaga ttcagatcaa
1441 cagatttcca ttttgacagt gccagcagag gaaccaggaa cttttgctgt tcgggtcatt
1501 gagttatgtt cttcaacgat gacatgcatg aaaggcacct atttggttca tttgacttgc
1561 acatcttcta aaacagcaag agaagattta gaatcagttg tgcagaaatt gtttgttcca
1621 tatactgaaa tggagataga aaatgaacaa gtagaaaagc caagaattct gtgggctctt
1681 tacttcaata tgagagattc gtcagacatc agcaggagct gttataatga tttaccatcc
1741 aacgtttatg tctgctctgg cccagattgt ggtttaggaa atgataatgc agtcaaacag
1801 gctgaaacac ttttccagga aatctgcccc aatgaagatt tctgtccccc tccaccaaat
1861 cctgaagaca ttatccttga tggagacagt ttacagccag aggcttcaga atccagtgcc
1921 ataccagagg ctaactcgga gactttcaag gaaagcacaa accttggaaa cctagaggag
1981 tcctctgaat aatggatata caccaaactg gatacccaac tttggaaatt ctgactggtc
2041 tcagagtcta cttgatagaa ggactgtttg agaaatgtta gaaagcagca gcaattataa
2101 ggcaaaatag gtaat
//