LOCUS AJ243950 1431 bp mRNA linear HUM 07-OCT-2008
DEFINITION Homo sapiens mRNA for deafness locus associated putative guanine
nucleotide exchange factor (DelGEF gene, splice variant DelGEF1).
ACCESSION AJ243950
VERSION AJ243950.1
KEYWORDS DeLGEF gene; guanine nucleotide exchange factor.
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 1431)
AUTHORS Ponstingl H.
JOURNAL Submitted (26-JUL-1999) to the INSDC. Ponstingl H., Molecular
Biology of Mitosis, German Cancer Research Center, Im Neuenheimer
Feld 280, D-69120 Heidelberg, GERMANY.
REFERENCE 2
AUTHORS Uhlmann J., Wiemann S., Ponstingl H.
TITLE DelGEF, an RCC1-related protein encoded by a gene on chromosome
11p14 critical for two forms of hereditary deafness
JOURNAL FEBS Lett. 460(1), 153-160(1999).
PUBMED 10571079
COMMENT Related sequences: PAC clones AC004582, AC004736, AJ243951.
FEATURES Location/Qualifiers
source 1..1431
/db_xref="H-InvDB:HIT000245560"
/organism="Homo sapiens"
/chromosome="11"
/map="11p14"
/mol_type="mRNA"
/note="in a region critical for DFNB18 and Usher 1C"
/db_xref="taxon:9606"
CDS 19..1395
/gene="DelGEF"
/product="deafness locus associated putative guanine
nucleotide exchange factor"
/note="splice variant DelGEF1"
/db_xref="GOA:Q9UGK8"
/db_xref="H-InvDB:HIT000245560.13"
/db_xref="HGNC:HGNC:17499"
/db_xref="InterPro:IPR000408"
/db_xref="InterPro:IPR009091"
/db_xref="UniProtKB/Swiss-Prot:Q9UGK8"
/experiment="experimental evidence, no additional details
recorded"
/protein_id="CAB60832.1"
/translation="MEREPSASEAAPAAAALFAWGANSYGQLGLGHKEDVLLPQQLND
FCKPRSVRRITGGGGHSAVVTDGGDLFVCGLNKDGQLGLGHTEDIPYFTPCKSLFGCP
IQQVACGWDFTIMLTENGQVLSCGSNSFGQLGVPHGPRRCVVPQAIELHKEKVVCIAA
GLRHAVAATASGIVFQWGTGLASCGRRLCPGQTLPLFFTAKEPSRVTGLENSKAMCVL
AGSDHSASLTDAGEVYVWGSNKHGQLANEAAFLPVPQKIEAHCFQNEKVTAIWSGWTH
LVAQTETGKMFTWGRADYGQLGRKLETYEGWKLEKQDSFLPCSRPPNSMPSSPHCLTG
ATEVSCGSEHNLAIIGGVCYSWGWNEHGMCGDGTEANVWAPKPVQALLSSSGLLVGCG
AGHSLALCQLPAHPALVQDPKVTYLSPDAIEDTESQKAMDKERNWKERQSETSTQSQS
DWSRNGGL"
regulatory 1408..1413
/gene="DelGEF"
/regulatory_class="polyA_signal_sequence"
BASE COUNT 348 a 351 c 403 g 329 t
ORIGIN
1 ccggcggagc gtcctcgcat ggagcgcgag cccagcgcct cggaggccgc ccccgcggcg
61 gccgcgctct tcgcctgggg tgcaaatagc tatgggcaac ttggcctcgg ccataaggaa
121 gatgtgctgt tgccccagca actgaatgac ttctgtaaac ccaggagtgt caggaggatc
181 acaggaggag ggggccactc tgcagttgtc acagatggag gagacctctt tgtttgtggc
241 ctgaacaaag atgggcaact ggggcttggt cacacagagg atatcccata ttttaccccc
301 tgcaaatccc tctttggctg tcccatccaa caggtggcct gtggctggga ttttacgatt
361 atgctcacag aaaatggtca agttctatca tgtggatcca actcctttgg ccagttagga
421 gttcctcatg gacctcgaag atgtgtggtt ccccaggcca ttgagctcca taaagagaag
481 gttgtttgta ttgctgctgg actgaggcat gcagtagctg ctacagcgag tggcatcgtg
541 ttccagtggg ggactggttt ggcatcatgt ggacgacggt tgtgccctgg gcagactctt
601 ccattgtttt tcacagcaaa ggaaccaagc agagtgacag gtctagagaa ttctaaagca
661 atgtgtgttc ttgctggctc agaccactca gcttcattaa cagatgcagg agaggtgtat
721 gtttggggaa gcaacaagca tgggcaactg gctaatgagg ctgctttcct tcctgtgccc
781 cagaaaatag aagcacattg tttccagaat gaaaaggtca ctgccatctg gagtggatgg
841 acacacctgg ttgcccagac agaaactggc aagatgttta cctggggccg agcagactat
901 ggtcagctag ggaggaagtt ggagacttat gaaggctgga aactagaaaa gcaagattca
961 tttctcccct gttcaagacc accgaacagc atgccttcat ctccgcattg cttaactgga
1021 gcaactgagg tctcttgtgg ctcagagcat aatttggcaa taattggtgg agtgtgttac
1081 tcttggggct ggaatgagca tggcatgtgc ggagatggca ctgaagccaa cgtctgggcc
1141 ccaaagccgg tgcaggctct gctgtcatcg tcaggactcc ttgtgggctg tggggctggc
1201 cactccttgg ccctctgcca gctgccagct caccctgcat tggtccagga ccccaaggtc
1261 acctaccttt ccccagatgc catcgaggac actgaatctc agaaagccat ggacaaagag
1321 agaaactgga aggaaagaca atcagaaact tcaacccaaa gccaatctga ctggtccaga
1381 aatgggggac tgtgatagag aatctttaat aaagtggctt ttcccaccaa a
//