LOCUS AJ606362 5476 bp mRNA linear HUM 07-OCT-2008
DEFINITION Homo sapiens mRNA for AHI1 protein, splice variant 3.
ACCESSION AJ606362
VERSION AJ606362.1
KEYWORDS AHI1 gene; alternative spliciing; splice variant 3.
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 5476)
AUTHORS Close J.P.
JOURNAL Submitted (12-NOV-2003) to the INSDC. Close J.P., Molecular
Haematology, King's College London, GKT School of Medicine, King's
Denmark Hill Campus, Bessemer Road, London, SE5 9PJ, UNITED
KINGDOM.
REFERENCE 2
AUTHORS Close J.P., Game L., Clark B., Berginoux J., Gerovassili A.,
Thein S.
TITLE Genome annotation of a 1.5 Mb region of human chromosome 6q23
encompassing a quantitative trait locus for fetal hemoglobin
expression in adults
JOURNAL BMC Genomics 5(1), 33-33(2004).
PUBMED 15169551
COMMENT Related entries AJ459824, AJ459825
FEATURES Location/Qualifiers
source 1..5476
/db_xref="H-InvDB:HIT000249204"
/organism="Homo sapiens"
/chromosome="6"
/map="6q23"
/mol_type="mRNA"
/tissue_type="small intestine, spleen, bone marrow,
thymus, colon, testes and liver"
/db_xref="taxon:9606"
CDS 218..3808
/gene="AHI1"
/product="AHI1 protein"
/note="splice variant 3"
/note="skips exon 2"
/db_xref="GOA:Q8N157"
/db_xref="H-InvDB:HIT000249204.13"
/db_xref="HGNC:HGNC:21575"
/db_xref="InterPro:IPR001452"
/db_xref="InterPro:IPR001680"
/db_xref="InterPro:IPR015943"
/db_xref="InterPro:IPR017986"
/db_xref="InterPro:IPR035832"
/db_xref="InterPro:IPR036028"
/db_xref="InterPro:IPR036322"
/db_xref="PDB:4ESR"
/db_xref="UniProtKB/Swiss-Prot:Q8N157"
/protein_id="CAE54481.1"
/translation="MPTAESEAKVKTKVRFEELLKTHSDLMREKKKLKKKLVRSEENI
SPDTIRSNLHYMKETTSDDPDTIRSNLPHIKETTSDDVSAANTNNLKKSTRVTKNKLR
NTQLATENPNGDASVEEDKQGKPNKKVIKTVPQLTTQDLKPETPENKVDSTHQKTHTK
PQPGVDHQKSEKANEGREETDLEEDEELMQAYQCHVTEEMAKEIKRKIRKKLKEQLTY
FPSDTLFHDDKLSSEKRKKKKEVPVFSKAETSTLTISGDTVEGEQKKESSVRSVSSDS
HQDDEISSMEQSTEDSMQDDTKPKPKKTKKKTKAVADNNEDVDGDGVHEITSRDSPVY
PKCLLDDDLVLGVYIHRTDRLKSDFMISHPMVKIHVVDEHTGQYVKKDDSGRPVSSYY
EKENVDYILPIMTQPYDFKQLKSRLPEWEEQIVFNENFPYLLRGSDESPKVILFFEIL
DFLSVDEIKNNSEVQNQECGFRKIAWAFLKLLGANGNANINSKLRLQLYYPPTKPRSP
LSVVEAFEWWSKCPRNHYPSTLYVTVRGLKVPDCIKPSYRSMMALQEEKGKPVHCERH
HESSSVDTEPGLEESKEVIKWKRLPGQACRIPNKHLFSLNAGERGCFCLDFSHNGRIL
AAACASRDGYPIILYEIPSGRFMRELCGHLNIIYDLSWSKDDHYILTSSSDGTARIWK
NEINNTNTFRVLPHPSFVYTAKFHPAVRELVVTGCYDSMIRIWKVEMREDSAILVRQF
DVHKSFINSLCFDTEGHHMYSGDCTGVIVVWNTYVKINDLEHSVHHWTINKEIKETEF
KGIPISYLEIHPNGKRLLIHTKDSTLRIMDLRILVARKFVGAANYREKIHSTLTPCGT
FLFAGSEDGIVYVWNPETGEQVAMYSDLPFKSPIRDISYHPFENMVAFCAFGQNEPIL
LYIYDFHVAQQEAEMFKRYNGTFPLPGIHQSQDALCTCPKLPHQGSFQIDEFVHTESS
STKMQLVKQRLETVTEVIRSCAAKVNKNLSFTSPPAVSSQQSKLKQSNMLTAQEILHQ
FGFTQTGIISIERKPCNHQVDTAPTVVALYDYTANRSDELTIHRGDIIRVFFKDNEDW
WYGSIGKGQEGYFPANHVASETLYQELPPEIKERSPPLSPEEKTKIEKSPAPQKQSIN
KNKSQDFRLGSESMTHSEMRKEQSHEDQGHIMDTRMRKNKQAGRKVTLIE"
regulatory 5444..5449
/gene="AHI1"
/regulatory_class="polyA_signal_sequence"
BASE COUNT 1845 a 1008 c 1126 g 1497 t
ORIGIN
1 gcggcacaga gccgcggctt gctttcagga cacgggtcgc tggcgggtta ggtggctgcg
61 tggccgcctc acttcgcgca cgcgccgcta ggctggggga gttgatttgc actgctccgg
121 gtgtcggctc cggcgggacg ggcggttctg cgtacccctc tccgatcctg attgagtcaa
181 tgctttgcat tctcagtcct ctgcataaag ctgagagatg cctacagctg agagtgaagc
241 aaaagtaaaa accaaagttc gctttgaaga attgcttaag acccacagtg atctaatgcg
301 tgaaaagaaa aaactgaaga aaaaacttgt caggtctgaa gaaaacatct cacctgacac
361 tattagaagc aatcttcact atatgaaaga aactacaagt gatgatcccg acactattag
421 aagcaatctt ccccatatta aagaaactac aagtgatgat gtaagtgctg ctaacactaa
481 caacctgaag aagagcacga gagtcactaa aaacaaattg aggaacacac agttagcaac
541 tgaaaatcct aatggtgatg ctagtgtaga ggaagacaaa caaggaaagc caaataaaaa
601 ggtgataaag acggtgcccc agttgactac acaagacctg aaaccggaaa ctcctgagaa
661 taaggttgat tctacacacc agaaaacaca tacaaagcca cagccaggcg ttgatcatca
721 gaaaagtgag aaggcaaatg agggaagaga agagactgat ttagaagagg atgaagaatt
781 gatgcaagca tatcagtgcc atgtaactga agaaatggca aaggagatta agaggaaaat
841 aagaaagaaa ctgaaagaac agttgactta ctttccctca gatactttat tccatgatga
901 caaactaagc agtgaaaaaa ggaaaaagaa aaaggaagtt ccagtcttct ctaaagctga
961 aacaagtaca ttgaccatct ctggtgacac agttgaaggt gaacaaaaga aagaatcttc
1021 agttagatca gtttcttcag attctcatca agatgatgaa ataagctcaa tggaacaaag
1081 cacagaagac agcatgcaag atgatacaaa acctaaacca aaaaaaacaa aaaagaagac
1141 taaagcagtt gcagataata atgaagatgt tgatggtgat ggtgttcatg aaataacaag
1201 ccgagatagc ccggtttatc ccaaatgttt gcttgatgat gaccttgtct tgggagttta
1261 cattcaccga actgatagac ttaagtcaga ttttatgatt tctcacccaa tggtaaaaat
1321 tcatgtggtt gatgagcata ctggtcaata tgtcaagaaa gatgatagtg gacggcctgt
1381 ttcatcttac tatgaaaaag agaatgtgga ttatattctt cctattatga cccagccata
1441 tgattttaaa cagttaaaat caagacttcc agagtgggaa gaacaaattg tatttaatga
1501 aaattttccc tatttgcttc gaggctctga tgagagtcct aaagtcatcc tgttctttga
1561 gattcttgat ttcttaagcg tggatgaaat taagaataat tctgaggttc aaaaccaaga
1621 atgtggcttt cggaaaattg cctgggcatt tcttaagctt ctgggagcca atggaaatgc
1681 aaacatcaac tcaaaacttc gcttgcagct atattaccca cctactaagc ctcgatcccc
1741 attaagtgtt gttgaggcat ttgaatggtg gtcaaaatgt ccaagaaatc attacccatc
1801 aacactgtac gtaactgtaa gaggactgaa agttccagac tgtataaagc catcttaccg
1861 ctctatgatg gctcttcagg aggaaaaagg taaaccagtg cattgtgaac gtcaccatga
1921 gtcaagctca gtagacacag aacctggatt agaagagtca aaggaagtaa taaagtggaa
1981 acgactccct gggcaggctt gccgtatccc aaacaaacac ctcttctcac taaatgcagg
2041 agaacgagga tgtttttgtc ttgatttctc ccacaatgga agaatattag cagcagcttg
2101 tgccagccgg gatggatatc caattatttt atatgaaatt ccttctggac gtttcatgag
2161 agaattgtgt ggccacctca atatcattta tgatctttcc tggtcaaaag atgatcacta
2221 catccttact tcatcatctg atggcactgc caggatatgg aaaaatgaaa taaacaatac
2281 aaatactttc agagttttac ctcatccttc ttttgtttac acggctaaat tccatccagc
2341 tgtaagagag ctagtagtta caggatgcta tgattccatg atacggatat ggaaagttga
2401 gatgagagaa gattctgcca tattggtccg acagtttgat gttcacaaaa gttttatcaa
2461 ctcactttgt tttgatactg aaggtcatca tatgtattca ggagattgta caggggtgat
2521 tgttgtttgg aatacctatg tcaagattaa tgatttggaa cattcagtgc accactggac
2581 tataaataag gaaattaaag aaactgagtt taagggaatt ccaataagtt atttggagat
2641 tcatcccaat ggaaaacgtt tgttaatcca taccaaagac agtactttga gaattatgga
2701 tctccggata ttagtagcaa ggaagtttgt aggagcagca aattatcggg agaagattca
2761 tagtactttg actccatgtg ggacttttct gtttgctgga agtgaggatg gtatagtgta
2821 tgtttggaac ccagaaacag gagaacaagt agccatgtat tctgacttgc cattcaagtc
2881 acccattcga gacatttctt atcatccatt tgaaaatatg gttgcattct gtgcatttgg
2941 gcaaaatgag ccaattcttc tgtatattta cgatttccat gttgcccagc aggaggctga
3001 aatgttcaaa cgctacaatg gaacatttcc attacctgga atacaccaaa gtcaagatgc
3061 cctatgtacc tgtccaaaac taccccatca aggctctttt cagattgatg aatttgtcca
3121 cactgaaagt tcttcaacga agatgcagct agtaaaacag aggcttgaaa ctgtcacaga
3181 ggtgatacgt tcctgtgctg caaaagtcaa caaaaatctc tcatttactt caccaccagc
3241 agtttcctca caacagtcta agttaaagca gtcaaacatg ctgaccgctc aagagattct
3301 acatcagttt ggtttcactc agaccgggat tatcagcata gaaagaaagc cttgtaacca
3361 tcaggtagat acagcaccaa cggtagtggc tctttatgac tacacagcga atcgatcaga
3421 tgaactaacc atccatcgcg gagacattat ccgagtgttt ttcaaagata atgaagactg
3481 gtggtatggc agcataggaa agggacagga aggttatttt ccagctaatc atgtggctag
3541 tgaaacactg tatcaagaac tgcctcctga gataaaggag cgatcccctc ctttaagccc
3601 tgaggaaaaa actaaaatag aaaaatctcc agctcctcaa aagcaatcaa tcaataagaa
3661 caagtcccag gacttcagac taggctcaga atctatgaca cattctgaaa tgagaaaaga
3721 acagagccat gaggaccaag gacacataat ggatacacgg atgaggaaga acaagcaagc
3781 aggcagaaaa gtcactctaa tagagtaaag aattgaagaa aagttaagag ctgccgaaat
3841 gcacagaggt gaaaatgaca aaccaaatgg aatttctctt cagagttcag aattttcaga
3901 tactaaggag gaagaaagga tccactactt cttgttctta tgaatgactc tagaaaaatc
3961 agaatcaagt tgtgggtgga aaaatcaacg tggcctttga gttcagttgt tataaaccat
4021 tgtgactatt gttggtcaaa gtattggtac ttatattgtt agtaattgca tcataattac
4081 attaccagtg ttggaaaact aatgaagaaa acactgtaat tgctactcag caaatgtgaa
4141 taaaaggtgt ttgcgttatt aggatgtctg ttaagtaatc atttaatatt attatattgg
4201 taatggttgt atgtgtgatg ctatgcccag aatatgaagt atctgttttt gaaattcact
4261 ttatttaaaa gataagcagc tgactgggca cggtgcctca tgcctgtaat cctagcacct
4321 tgggaggctg aggcaggtgg atcacctaag gtcaggagtt caacaacacc agcctgacca
4381 acatggtgaa accccatctc tactaaaaat acaaaaatca gccgggtctc atggcaggca
4441 cctgtaatcc catctactga ggcaggagaa ttgcttgacc caggaggcag aggttgcagt
4501 gagccaagat cacgccattg cactccagcc tgggggacag agcaagactc tatctccaaa
4561 aaacaaaaaa gataagcagc tttagaatat ggcgcattca aaacagtctc agtaacaaag
4621 acattaaaag aaaacaattt actttctaat taaaattttg tgtttcttaa gatcaaatca
4681 tataggtaac ttcatagacc taaattaaaa gtgatttttg gctggactgg caacaatgtt
4741 cccaatgtct ttacttttta aaaaaggctt ttcatattta agcacatacc tattttgtag
4801 acttacattg tttaatattt attttaatct taatattttt acattattat attgcattat
4861 ttattttttc taagttccag aataatagtg tcattattat agactatatg ttttgaagtt
4921 tgatattata atgggatatt cattttttgt tcttttcttg actcctttct caagtgtgtg
4981 ataaggtctg ctgataaaat atttaacccc aagaaagtga aaactaatat aaaattagaa
5041 agacctatcc aaattagaca gtcaattcca ttaaaataag aagtgagaaa aacaatgttg
5101 ggcattgagg tgtaaatttt gcccagatgt atacccagtg tgaaatatct tctaataaaa
5161 atatatttgg ctcttatccc tgcacatgta gaggcataaa aattggtaaa catgtcccgc
5221 tgtgtagaac tttaaaaaaa aggcattttt gaaagtgttg agtggcactg ataactggtg
5281 aagcctacag ccatccgccc aaaagtctgt tctgatggca ctgagttttc attgttctgg
5341 atgtataagt ctgtgtgtca ggtacagctg ggcccagcca gcttgagtca ctcttgtaca
5401 agcttgtttt tttctgtctt gtgaatgcac ttgataattt aaaaataaaa atatctgttt
5461 ctctgcaaaa aaaaaa
//