Entry HUMAN26164 (PTHB1_HUMAN)

E Homo sapiens


General Information

Description
Bardet-Biedl syndrome 9 [Source:HGNC Symbol;Acc:HGNC:30000]
Organism
HUMAN - Homo sapiens (Taxon-ID: 9606)
Locus
7join(33146253..33146364, 33152701..33152851, 33155638..33155702, 33177478..33177591, 33257236..33257410, 33264290..33264374, 33273012..33273195, 33273827..33273956, 33336441..33336622, 33340897..33340973, 33344581..33344634, 33349068..33349170, 33351219..33351323, 33352859..33352873, 33357855..33357995, 33367767..33367862, 33383666..33383838, 33387992..33388144, 33505463..33505645, 33533954..33534176, 33604865..33604975, 33605195..33605226)
Number of exons
22
Alternative splicing
HUMAN26165

IDs and Cross-references

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Domain Architecture

Gene Ontology

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Protein Sequence

Download: Fasta
MSLFKARDWW STILGDKEEF DQGCLCLANV DNSGNGQDKI IVGSFMGYLR IFSPHPAKTG    60
DGAQAEDLLL EVDLRDPVLQ VEVGKFVSGT EMLHLAVLHS RKLCVYSVSG TLGNVEHGNQ   120
CQMKLMYEHN LQRTACNMTY GSFGGVKGRD LICIQSMDGM LMVFEQESYA FGRFLPGFLL   180
PGPLAYSSRT DSFLTVSSCQ QVESYKYQVL AFATDADKRQ ETEQQKLGSG KRLVVDWTLN   240
IGEQALDICI VSFNQSASSV FVLGERNFFC LKDNGQIRFM KKLDWSPSCF LPYCSVSEGT   300
INTLIGNHNN MLHIYQDVTL KWATQLPHIP VAVRVGCLHD LKGVIVTLSD DGHLQCSYLG   360
TDPSLFQAPN VQSRELNYDE LDVEMKELQK IIKDVNKSQG VWPMTEREDD LNVSVVVSPN   420
FDSVSQATDV EVGTDLVPSV TVKVTLQNRV ILQKAKLSVY VQPPLELTCD QFTFEFMTPD   480
LTRTVSFSVY LKRSYTPSEL EGNAVVSYSR PTDRNPDGIP RVIQCKFRLP LKLICLPGQP   540
SKTASHKITI DTNKSPVSLL SLFPGFASQS DDDQVNVMGF HFLGGARITV LASKTSQRYR   600
IQSEQFEDLW LITNELILRL QEYFEKQGVK DFACSFSGSI PLQEYFELID HHFELRINGE   660
KLEELLSERA VQFRAIQRRL LARFKDKTPA PLQHLDTLLD GTYKQVIALA DAVEENQGNL   720
FQSFTRLKSA THLVILLIAL WQKLSADQVA ILEAAFLPLQ EDTQELGWEE TVDAAISHLL   780
KTCLSKSSKE QALNLNSQLN IPKDTSQLKK HITLLCDRLS KGGRLCLSTD AAAPQTMVMP   840
GGCTTIPESD LEERSVEQDS TELFTNHRHL TAETPRPEVS PLQGVSE                 887

Coding Sequence

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ATGTCTTTAT TTAAAGCCCG TGATTGGTGG TCTACTATTC TGGGAGATAA AGAAGAATTT    60
GATCAAGGCT GTTTGTGTCT GGCTAATGTT GACAATAGTG GAAATGGACA AGATAAAATA   120
ATTGTGGGTA GCTTTATGGG ATACCTAAGG ATCTTTAGCC CCCATCCTGC AAAAACAGGA   180
GATGGAGCTC AAGCCGAAGA TTTGCTTCTA GAAGTGGATC TACGAGATCC AGTACTTCAA   240
GTGGAAGTAG GAAAGTTTGT TTCAGGTACC GAAATGCTAC ATTTGGCTGT GTTACATTCT   300
AGAAAACTTT GTGTCTACTC TGTCTCAGGA ACCTTGGGTA ATGTGGAACA TGGGAACCAA   360
TGTCAGATGA AATTGATGTA TGAACATAAT CTTCAGAGAA CAGCCTGCAA TATGACCTAT   420
GGATCATTTG GTGGTGTAAA AGGTCGAGAT TTAATTTGCA TCCAGTCTAT GGATGGGATG   480
CTGATGGTAT TTGAGCAGGA GAGCTATGCT TTTGGAAGAT TTCTCCCTGG CTTTCTTCTG   540
CCTGGTCCTC TTGCCTACAG TTCCCGTACA GATTCCTTCC TTACTGTCTC TTCCTGCCAA   600
CAAGTGGAAA GTTATAAGTA CCAGGTACTT GCTTTTGCAA CAGATGCAGA TAAAAGGCAG   660
GAGACTGAAC AGCAAAAACT TGGTTCTGGA AAAAGACTAG TTGTGGATTG GACTCTAAAT   720
ATTGGAGAGC AAGCCCTTGA CATATGTATT GTCTCTTTCA ATCAGTCGGC ATCCTCTGTT   780
TTTGTTCTTG GTGAGAGAAA CTTTTTTTGC CTTAAGGATA ATGGACAAAT TCGATTCATG   840
AAGAAGCTTG ATTGGAGCCC AAGTTGTTTT CTGCCATATT GCTCAGTTTC TGAAGGAACA   900
ATAAATACTT TGATTGGAAA TCATAATAAC ATGCTGCATA TTTATCAAGA TGTGACACTG   960
AAGTGGGCCA CCCAACTTCC CCACATTCCT GTAGCAGTAA GAGTGGGCTG TTTGCATGAT  1020
TTAAAGGGAG TGATAGTCAC TCTGAGTGAT GATGGTCACT TGCAGTGTTC ATACCTGGGG  1080
ACAGATCCTT CTCTGTTCCA AGCTCCAAAC GTTCAATCTC GAGAACTAAA CTATGATGAA  1140
CTTGATGTAG AAATGAAAGA ACTTCAGAAA ATCATCAAAG ATGTTAACAA ATCACAAGGT  1200
GTTTGGCCCA TGACTGAGAG AGAAGATGAC TTGAACGTTT CTGTCGTGGT TTCTCCTAAC  1260
TTTGATTCAG TTTCTCAAGC GACCGATGTT GAGGTGGGAA CTGACCTTGT CCCTTCTGTC  1320
ACGGTGAAGG TCACACTGCA GAACAGAGTG ATATTGCAAA AAGCCAAATT ATCAGTCTAC  1380
GTGCAACCAC CATTAGAATT GACTTGTGAT CAGTTCACCT TTGAATTTAT GACACCAGAT  1440
TTGACTAGAA CAGTAAGCTT TTCTGTTTAT CTGAAAAGAA GTTATACACC ATCAGAATTG  1500
GAAGGAAATG CTGTTGTTTC TTATTCCAGA CCAACAGATC GAAATCCTGA TGGCATTCCG  1560
CGAGTTATCC AATGTAAATT TAGACTTCCC CTAAAGTTAA TTTGCCTACC AGGTCAGCCT  1620
TCAAAAACTG CAAGCCACAA AATTACTATT GATACCAACA AATCTCCAGT CAGTCTTCTT  1680
AGTCTCTTCC CAGGTTTTGC CAGTCAGTCA GATGATGATC AGGTGAATGT AATGGGTTTT  1740
CACTTCTTAG GAGGTGCTCG AATTACTGTT CTTGCTTCCA AAACTTCTCA ACGATATCGC  1800
ATTCAGAGTG AACAATTTGA AGATCTTTGG CTCATAACCA ATGAGCTTAT TCTTCGCCTT  1860
CAAGAATATT TTGAAAAACA GGGAGTCAAA GATTTTGCAT GTTCTTTTTC GGGATCTATA  1920
CCCCTTCAAG AATATTTTGA GTTGATTGAT CATCATTTTG AGCTACGGAT AAATGGTGAA  1980
AAATTAGAAG AACTCTTATC TGAGAGAGCT GTACAATTTC GGGCCATTCA ACGCCGGCTA  2040
CTAGCAAGAT TCAAAGATAA AACTCCTGCC CCTCTTCAAC ACCTGGACAC CTTGTTAGAT  2100
GGAACCTACA AGCAGGTAAT TGCTCTAGCA GATGCAGTGG AGGAAAACCA AGGCAATCTG  2160
TTCCAGTCAT TCACCAGGCT GAAGAGTGCC ACCCATTTGG TGATTCTGCT GATCGCGCTG  2220
TGGCAGAAGC TTAGTGCTGA CCAGGTTGCT ATTCTGGAAG CGGCATTTCT GCCGCTACAA  2280
GAAGACACTC AAGAATTGGG CTGGGAAGAA ACGGTGGATG CCGCCATTTC CCACCTGTTG  2340
AAGACTTGCC TGTCGAAGAG TTCTAAGGAG CAGGCTTTGA ACCTCAACAG CCAGCTGAAC  2400
ATACCCAAAG ACACAAGCCA ACTGAAGAAA CATATCACCT TGCTCTGCGA TAGATTATCC  2460
AAAGGTGGCC GTCTCTGCCT AAGTACCGAT GCAGCAGCCC CACAGACCAT GGTCATGCCA  2520
GGTGGTTGTA CTACAATCCC AGAGTCAGAC CTAGAAGAAA GATCAGTAGA ACAAGACTCT  2580
ACAGAACTGT TTACCAACCA CAGACATCTC ACTGCAGAGA CACCCAGGCC TGAAGTTTCA  2640
CCCCTCCAAG GAGTCTCGGA ATAA                                         2664