Gene: T10P11.7 Putative Identification: putative vacuolar trafficking component Position: 47124 to 51167, from initial methionine to termination codon Strand: + EST match: none Database match: mouse beige U52461 and mouse lysosomal trafficking regulator, Lyst U70015
The murine and human beige (bg) loci are implicated in Chediak-Higashi Syndrome, which is characterized by partial albinism; peroxidase-positive inclusion bodies in myeloblasts and promyelocytes of the bone marrow; and glycolipid inclusions in histiocytes, renal tubular epithelium, and neurons. It is likely that the beige gene product is involved in vacuolar sorting.
CDS: exon terminus predicted by Gr=Grail 5' 3' M=MZEF exon 1 47124 to 48207 Gr Gr exon 2 48265 to 48688 Gr Gr exon 3 48885 to 49193 M,Gr M,Gr exon 4 49345 to 49558 M,Gr exon 5 49734 to 49880 M,Gr M,Gr exon 6 49941 to 51167 Gr ATGGCATCTAATATTATCAAATATTTGCTGGTTCACCGAAAATCTGCTTTGGAGGATTTG CTCGTCAAAAAACCACACCGAGGACAAAAATTTGATGTACTACACGGGGGTTTTGATAGA TTGCTGACTGGAAATCTTCCAGAATTCTCTAAGTGGCTTGAGAGCTCCGAGCAAATTATA ACTAAAGTACTGGAGCAGGGTGCTGCAGTTATGTGGATACAGTACATAGCTGGCTCGGCA AAATTTCCTGATGTTAGAATGAAAGGCATGGATGGTCGTCGCACTAGAGAGATGGGGAGA AAATTGCGAGATACGTCTAAGTTAGACCTGAAACACTGGGAGCAGGTAAATGAGCGAAGA TATGCACTTGAAGTAGTACGTGATGCAATGTCTGCTGAGCTTAGAGTTGTCCGGCAAAAT AAATATGGTTTGATACTTCATGCCGAGAGTGTGTGGCCAACTCACCTCCAACAGCTTGTA CATGAGCGTGGTATATTCCCAATGCGTATTTCCCATGGAGTTGAAGATCTTAAATGGCAA CTCTGTCCTATTGAAGGTCCATATAGAATGCGTAAAAAGCTTGAACGATGTAAACTGAAG ATTGATAGCCTCCATAATTTACTAGAAGGGAAGTTGGAACTTGGAGAAATTGAGCTACTC AAATCCAAAAGTGAAGATGGTCTTGTTATTTCTGATATGGATTCTGAGCCAGCTTTCCTG CTAAGTGAACTTTACAGCGAGTCCTTTTCCGAAGAGGCTGATGATCTTAAGGATGTTCCA TCTGCTAGAAATGGATGGAATAATGATAGAGCAACTAGTACAAATGCGGCGAGTCTTCAT AATTCTCTTTCTTTTGGTGGCAAGTCTAGTAGTACAGCAGTATCTGTTCCAATAAGCGTT AACACAGATGAAAAATCTGAGACTGGATCTCCAATAAAGTCATCTTCTGGTAAAATGGAC GAAATCAAACATGTGGAGGAAGAATCAGAGAAGGAATTGAAAGATGATGGTGAGTATCTG ATCAGACCTTATCTGGAACATCTTGAAAAGATTAGGTTCCGATATAACTGTGAGAGAGTT GTTGAGAACTTTTACATTGATGATCATGGGTGTATCTGTGAGAAGGAATGTGAAGACGAG CTATCCATTATTGATCAGGCACAAGGTTTGAAAAAACAATTTCATGGAAGCCTGGAATCC AAGTCCAAGTCTAGCACATTGTGGAGTACAACAATAAAAATCGGTGCTGTAGGGGGAAGA GCATGGGCATATGGTGGTGGAGCTTGGGGAAAGGAAAAAGTGCGTGTGACTGGTAACTTG CCACATCCTTGGCATATGTGGAAGCTGGATAGTGTTCATGAGATTCTAAAACGTGATTAC GAGCTGCGTCGAGTTGCTGTTGAGATATTTAGCATGGATGGATGTAATGATCTCCTTGTG TTCCACAAGAAAGAAAGGGAAGAAGTCTTCAGGAATCTCCTTGCCATGAATCTTCCAAGG AACAGCATGCTCGATACAACCATATCAGGATCAGCGAAACAGGAAAGCAAAGAGGGTAGC CGTCTTTTCAAATTGATGGCAAAGTCATTCACGAAAAGATGGCAAAATGGGGAGATCAGC AATTTCCAATACCTAATGCATCTCAACACCCTTGCAGGACGTGGATACAGTGATCTCACA CAGTATCCGGTATTTCCGTGGATTCTAGCAGATTATGATGGCGAGAGTCTTGATTTGTCG GATCCAAATAATTTTCGCAAGCTTGACAAACCAATGGGTTGCCAGACGCCTGAAGGAGAA GAAGAATTTAGGAAACGATATGAGAGCTGGGATGATCCAGAGGTTCCACAATTTCATTAC GGTTCTCACTATTCAAGTGCTGGCATTGTTTTGTTTTACCTTATTCGCCTTCCACCGTTC AGTGCTGAAAATCAGAAGCTGCAGGGTGGTCAATTTGATCATGCTGATCGACTTTTCAAT AGTATTAGAGAGACTTGGCTTAGTGCAGCTGGAAAAGGAAATACATCAGATGTTGGTGAT GTAATTTTACCTCCTTGGGCTAGAGGGAGTGTTCGTGAATTCATCCGCAAGCACAGAGAA GCTTTGGAGTCTGATTATGTTTCAGAGAATCTGCATCATTGGATAGATCTCATCTTTGGG CACAAGCAGAGAGGAAAGATGTTGCTTCTTAAAATATCGAATCATGAGGCTGTTTATTTT CAGGCTGCAGAAAATGCTGTTAATGTTTTCTACCATTACACGTATGAGGGGAATGTGGAT GTAGATGCTGTTACGGATCCTGCCATGAAAGCATCCATACTAGCACAGATCAATCATTTT GGACAAACGCCGAAGCAACTATTCCAGAAACCTCATGTTAAAAGAAGGACAGACAGAAAA GTCCCTCCGCACCCTCTGAAACACTCGATGCATCTTGTTCCTCGCAATATACGTAAATGC TCATCATCTATAAACCAAATCATCACTTTCAATGATAAGTTGCTTCTTACCGGCGCTAAC TGTCTCCTGAAACCCAGAGGCTATAAGAAATACATAAGATGGGGTTTCCCAGACAGGACC TTGAGATTTATGAGCTATGATCAGGACAAGCTCTTATCCACCCATGAAAATCTCCATGAA GGCAACCAGATCCAGTGCGCTGGTGTTAGTCATGACGGGCGCATTGTGGTCACTGGAGCA GAAGATGGTCTAGTCTCTGTGTGGAGAGTCAGCAAGGATGGCCCCCGTGGTTCACGACGT TTACGGTTAGAGAAATCCCTGTGTGCACACACAGCCAAGGTCATTTGTCTACGTGTAAGT CAACCTTACATGATGATTGCAAGCAGTTCAGATGACTGTACAGTTATCATATGGGATCTC AGTTCTTTAAGTTTTGTGAGGCAGCTTCCGAATTTTTCGGTTCCCGTTACAGTAGTCTAC ATAAACGACCTTACAGGAGAAATCGTAACTGCTGCTGGAAGTGTACTTGCTGTTTGGAGC ATCAATGGCGATTGCCTTTCTGTGGTTAACACATCACAGTTGCCAACTGATTTGATAGTA TCAGTAGCAGGTTCAACGTTTTCTGACTGGCTGGAAACAACCTGGTACGTGACTGGTCAT CAAAGTGGGGCACTTAAAGTGTGGCGGATGGTACATTGTACTGATCCGGTAAGTGTCCCG AGCAAAACACCTAGCAACAGAACAGGAGGTCTAAATTTGGGGAATCAGAAGCCAGAATAC AAATTGCTTTTACACAAGGAGTTGAAGTTCCATAAGCAACCGGTCACATCTCTGCATCTC ACGACCGACCTAAAGCAATTACTGAGCGGCGATTCAGCTGGACATTTGCTTTCATGGACA GTACCAGATGAGATATTAAAAGCTTCACTCAAAAAAGCTTCATAG Protein Translation: MASNIIKYLLVHRKSALEDLLVKKPHRGQKFDVLHGGFDRLLTGNLPEFSKWLESSEQII TKVLEQGAAVMWIQYIAGSAKFPDVRMKGMDGRRTREMGRKLRDTSKLDLKHWEQVNERR YALEVVRDAMSAELRVVRQNKYGLILHAESVWPTHLQQLVHERGIFPMRISHGVEDLKWQ LCPIEGPYRMRKKLERCKLKIDSLHNLLEGKLELGEIELLKSKSEDGLVISDMDSEPAFL LSELYSESFSEEADDLKDVPSARNGWNNDRATSTNAASLHNSLSFGGKSSSTAVSVPISV NTDEKSETGSPIKSSSGKMDEIKHVEEESEKELKDDGEYLIRPYLEHLEKIRFRYNCERV VENFYIDDHGCICEKECEDELSIIDQAQGLKKQFHGSLESKSKSSTLWSTTIKIGAVGGR AWAYGGGAWGKEKVRVTGNLPHPWHMWKLDSVHEILKRDYELRRVAVEIFSMDGCNDLLV FHKKEREEVFRNLLAMNLPRNSMLDTTISGSAKQESKEGSRLFKLMAKSFTKRWQNGEIS NFQYLMHLNTLAGRGYSDLTQYPVFPWILADYDGESLDLSDPNNFRKLDKPMGCQTPEGE EEFRKRYESWDDPEVPQFHYGSHYSSAGIVLFYLIRLPPFSAENQKLQGGQFDHADRLFN SIRETWLSAAGKGNTSDVGDVILPPWARGSVREFIRKHREALESDYVSENLHHWIDLIFG HKQRGKMLLLKISNHEAVYFQAAENAVNVFYHYTYEGNVDVDAVTDPAMKASILAQINHF GQTPKQLFQKPHVKRRTDRKVPPHPLKHSMHLVPRNIRKCSSSINQIITFNDKLLLTGAN CLLKPRGYKKYIRWGFPDRTLRFMSYDQDKLLSTHENLHEGNQIQCAGVSHDGRIVVTGA EDGLVSVWRVSKDGPRGSRRLRLEKSLCAHTAKVICLRVSQPYMMIASSSDDCTVIIWDL SSLSFVRQLPNFSVPVTVVYINDLTGEIVTAAGSVLAVWSINGDCLSVVNTSQLPTDLIV SVAGSTFSDWLETTWYVTGHQSGALKVWRMVHCTDPVSVPSKTPSNRTGGLNLGNQKPEY KLLLHKELKFHKQPVTSLHLTTDLKQLLSGDSAGHLLSWTVPDEILKASLKKAS*
created 11 Aug 97
Larry Parnell