LOCUS X83543 7445 bp mRNA linear HUM 07-OCT-2008
DEFINITION H.sapiens APXL mRNA.
ACCESSION X83543
VERSION X83543.1
KEYWORDS APXL gene.
SOURCE Homo sapiens (human)
ORGANISM Homo sapiens
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
REFERENCE 1
AUTHORS Schiaffino V.M., Bassi M.T., Rugarli E.I., Renieri A., Galli L.,
Ballabio A.
TITLE Cloning of a human homologue of the Xenopus laevis APX gene from
the ocular albinism type 1 critical region
JOURNAL Hum. Mol. Genet. 4(3), 373-382(1995).
PUBMED 7795590
REFERENCE 2 (bases 1 to 7445)
AUTHORS Schiaffino V.M.
JOURNAL Submitted (19-DEC-1994) to the INSDC. V.M. Schiaffino, T.I.G.E.M.,
via Olgettina 58, 20132 Milano, ITALY
FEATURES Location/Qualifiers
source 1..7445
/db_xref="H-InvDB:HIT000323968"
/organism="Homo sapiens"
/chromosome="22"
/map="Xp22.2-22.3"
/mol_type="mRNA"
/dev_stage="adult"
/tissue_type="retina"
/db_xref="taxon:9606"
CDS 91..4941
/gene="APXL"
/db_xref="GOA:Q13796"
/db_xref="H-InvDB:HIT000323968.14"
/db_xref="HGNC:HGNC:630"
/db_xref="InterPro:IPR001478"
/db_xref="InterPro:IPR014799"
/db_xref="InterPro:IPR014800"
/db_xref="InterPro:IPR027685"
/db_xref="InterPro:IPR027686"
/db_xref="InterPro:IPR036034"
/db_xref="PDB:5F4Y"
/db_xref="PDB:5F5P"
/db_xref="UniProtKB/Swiss-Prot:Q13796"
/protein_id="CAA58534.1"
/translation="MEGAEPRARPERLAEAETRAADGGRLVEVQLSGGAPWGFTLKGG
REHGEPLVITKIEEGSKAAAVDKLLAGDEIVGINDIGLSGFRQEAICLVKGSHKTLKL
VVKRRSELGWRPHSWHATKFSDSHPELAASPFTSTSGCPSWSGRHHASSSSHDLSSSW
EQTNLQRTLDHFSSLGSVDSLDHPSSRLSVAKSNSSIDHLGSHSKRDSAYGSFSTSSS
TPDHTLSKADTSSAENILYTVGLWEAPRQGGRQAQAAGDPQGSEEKLSCFPPRVPGDS
GKGPRPEYNAEPKLAAPGRSNFGPVWYVPDKKKAPSSPPPPPPPLRSDSFAATKSHEK
AQGPVFSEAAAAQHFTALAQAQPRGDRRPELTDRPWRSAHPGSLGKGSGGPGCPQEAH
ADGSWPPSKDGASSRLQASLSSSDVRFPQSPHSGRHPPLYSDHSPLCADSLGQEPGAA
SFQNDSPPQVRGLSSCDQKLGSGWQGPRPCVQGDLQAAQLWAGCWPSDTALGALESLP
PPTVGQSPRHHLPQPEGPPDARETGRCYPLDKGAEGCSAGAQEPPRASRAEKASQRLA
ASITWADGESSRICPQETPLLHSLTQEGKRRPESSPEDSATRPPPFDAHVGKPTRRSD
RFATTLRNEIQMHRAKLQKSRSTVALTAAGEAEDGTGRWRAGLGGGTQEGPLAGTYKD
HLKEAQARVLRATSFKRRDLDPNPGDLYPESLEHRMGDPDTVPHFWEAGLAQPPSSTS
GGPHPPRIGGRRRFTAEQKLKSYSEPEKMNEVGLTRGYSPHQHPRTSEDTVGTFADRW
KFFEETSKPVPQRPAQKQALHGIPRDKPERPRTAGRTCEGTEPWSRTTSLGDSLNAHS
AAEKAGTSDLPRRLGTFAEYQASWKEQRKPLEARSSGRCHSADDILDVSLDPQERPQH
VHGRSRSSPSTDHYKQEASVELRRQAGDPGEPREELPSAVRAEEGQSTPRQADAQCRE
GSPGSQQHPPSQKAPNPPTFSELSHCRGAPELPREGRGRAGTLPRDYRYSEESTPADL
GPRAQSPGSPLHARGQDSWPVSSALLSKRPAPQRPPPPKREPRRYRATDGAPADAPVG
VLGRPFPTPSPASLDVYVARLSLSHSPSVFSSAQPQDTPKATVCERGSQHVSGDASRP
LPEALLPPKQQHLRLQTATMETSRSPSPQFAPQKLTDKPPLLIQDEDSTRIERVMDNN
TTVKMVPIKIVHSESQPEKESRQSLACPAEPPALPHGLEKDQIKTLSTSEQFYSRFCL
YTRQGAEPEAPHRAQPAEPQPLGTQVPPEKDRCTSPPGLSYMKAKEKTVEDLKSEELA
REIVGKDKSLADILDPSVKIKTTMDLMEGIFPKDEHLLEEAQQRRKLLPKIPSPRSTE
ERKEEPSVPAAVSLATNSTYYSTSAPKAELLIKMKDLQEQQEHEEDSGSDLDHDLSVK
KQELIESISRKLQVLREARESLLEDVQANTVLGAEVEAIVKGVCKPSEFDKFRMFIGD
LDKVVNLLLSLSGRLARVENALNNLDDGASPGDRQSLLEKQRVLIQQHEDAKELKENL
DRRERIVFDILANYLSEESLADYEHFVKMKSALIIEQRELEDKIHLGEEQLKCLLDSL
QPERGK"
BASE COUNT 1705 a 2198 c 2087 g 1455 t
ORIGIN
1 tctgcggcgc tcggagcctc ccttgcgatc ccacggccgg gactgcccgg agtgcatggg
61 cgcgggccag ggacgctgag cggtcgcgcc atggagggcg ccgagccccg cgcgcggccc
121 gagcgcctgg ccgaggccga gacgcgggcg gcggacggcg ggcgcctggt ggaggtgcag
181 ctgagcggcg gcgccccgtg gggcttcacc ctgaagggcg gccgcgagca cggcgagccg
241 ctggtcatca ccaagattga agagggcagt aaagccgcgg cggtcgacaa gttactggct
301 ggagatgaga tcgtcggcat caatgacatt ggtctctcag ggtttagaca ggaagcgatt
361 tgcctggtga aggggtccca taagaccctg aagctggtcg tcaaaaggag gagcgagctg
421 ggctggaggc ctcactcctg gcatgccacc aagttctctg acagccaccc cgagctagcg
481 gcctccccgt tcacctccac cagcggctgt ccttcctggt ccggccgaca ccacgcgagt
541 tcttcctccc acgacctgtc cagttcctgg gagcagacga acctacagcg caccttagat
601 cacttcagct ccttggggag cgttgacagc ctggaccacc cctccagtcg cctctcggtg
661 gccaagtcca acagcagcat cgaccacctg ggcagccaca gcaagcgcga ctcggcctac
721 ggctccttct ccaccagctc tagcactcct gaccacacct tgtccaaagc cgacacgtcc
781 tccgcagaga acatcctcta cactgtgggc ctctgggagg ctcccaggca gggtggccgg
841 caggcccagg ccgcaggcga ccctcagggc tcggaggaga agctcagttg tttcccgccc
901 agggtccccg gtgacagcgg caaaggcccc aggccagagt acaatgccga gcccaagctg
961 gctgcccctg ggaggtccaa ttttgggcca gtctggtatg ttcccgataa gaagaaagca
1021 ccatcatccc cacctcctcc ccctccccct ctccgcagtg acagctttgc tgccaccaag
1081 agccacgaga aggcccaggg ccctgtgttc tcagaggcgg ctgcggcaca gcactttacg
1141 gccctggccc aggctcagcc tcgtggtgac cggagaccag agctcaccga tcggccttgg
1201 aggtcagcac acccggggag cctcgggaag ggatcgggag gcccgggctg cccacaggag
1261 gcccacgcag acggcagctg gccgccctcc aaggatggag cttccagtag gctgcaggcc
1321 tctctgtcca gctcagatgt gcgcttccct cagtctcctc atagcggccg acaccctccc
1381 ctatacagcg accacagccc cctctgtgct gacagccttg ggcaggagcc aggggctgcc
1441 agcttccaga acgacagccc tcctcaggtg agggggctca gcagctgtga ccagaagctg
1501 gggagcggct ggcagggtcc ccggccctgt gtgcagggag acctgcaagc agcacagctc
1561 tgggcgggat gctggccttc tgacacagcc cttggagccc tcgagagtct tcccccaccc
1621 acggtgggcc agagcccacg ccatcaccta cctcagcctg agggtcctcc ggatgcccgc
1681 gagacaggac ggtgttaccc gctggacaaa ggggccgagg gctgctccgc gggagcccag
1741 gagcctccca gggccagccg tgcagaaaaa gccagccaga ggctggcagc cagcatcacg
1801 tgggcagatg gggagagcag caggatctgc ccgcaggaga cgcccctgtt gcactccctg
1861 acccaggagg ggaagcgccg gcctgagagc agtccagagg acagcgccac cagaccgcca
1921 ccgttcgacg cccacgtggg caagcccacc cgaagaagcg accgctttgc caccaccctg
1981 cggaatgaga tccagatgca tagagccaag ctgcagaaga gccggagcac agtggctctg
2041 actgcagcag gggaggcgga ggatggcacc ggccgctgga gggccgggtt gggaggtggc
2101 acccaggaag gacccctcgc tggcacctat aaagaccacc tgaaagaggc ccaagcccgg
2161 gtcctgaggg ccacgtcctt caagcgccgc gacttggacc ccaacccagg agacctatac
2221 ccggagtcac tggaacaccg gatgggggat ccagacactg tcccccactt ctgggaggca
2281 ggcctggccc agccaccctc atctacaagt ggcgggcccc acccgccccg catcggaggc
2341 cggagacggt tcacagctga gcagaaattg aagtcctact cggaacctga gaagatgaac
2401 gaggtgggcc tcacgagggg ctacagtcct caccagcacc ccaggacatc tgaggatact
2461 gtgggcacgt ttgctgacag gtggaagttt tttgaggaaa cgagcaaacc tgttccccag
2521 aggcctgccc agaagcaagc tcttcacgga atcccgagag acaagccaga gaggccgcgg
2581 acagcgggcc gcacatgtga gggcacggag ccctggtcgc gcaccacctc ccttggggac
2641 agcctcaacg ctcacagcgc agcggagaag gcagggactt cagacctgcc gcggaggctc
2701 ggcacctttg cagagtatca ggcctcttgg aaggaacaga ggaaacctct ggaggccagg
2761 agctctgggc gctgccactc agcggatgac atcctggatg tgagcctgga cccacaggag
2821 aggccgcagc acgttcatgg gaggtcccgg tcttcaccgt ccacagacca ctacaagcag
2881 gaagcttctg tcgaactgcg aaggcaggca ggggaccccg gcgagcccag agaagagctt
2941 ccctccgcag tccgggccga ggagggacag tccacgccga gacaagcaga tgcccagtgt
3001 cgggaaggca gcccaggatc acagcagcac ccaccgagtc agaaggcacc gaacccaccc
3061 acattctctg aactatctca ctgccgggga gccccagagc tgccccggga gggccggggc
3121 cgagcgggaa ccctacctcg agattataga tactcggagg agagcacccc agcagacttg
3181 ggaccccgag cccagagccc tggctcaccc ctgcatgctc gaggacaaga ctcgtggcca
3241 gtgagctcag ccctgctctc caagaggcca gccccacaga ggccaccgcc acccaagcgc
3301 gagcccagga gatacagggc cacagacggc gcacctgctg acgcccccgt gggcgtcctc
3361 ggcaggccct tcccaacgcc atcccctgcg tccctggatg tgtatgtggc ccgcctgtcc
3421 ctctcccaca gcccctctgt gttcagcagt gcccagcccc aggacacccc gaaggccact
3481 gtctgtgagc gtggaagcca gcatgtgagc ggggacgcat cacgtcctct gccagaagca
3541 ctgctccctc ccaagcagca gcacctgcgc ctgcagacgg ccaccatgga gacctcgcgc
3601 tccccctcgc cccagttcgc cccccagaaa ctgacggaca aacctcccct gctcatccag
3661 gatgaggatt caaccagaat tgagcgggtg atggacaaca acaccacggt gaagatggtg
3721 cccatcaaga tcgtgcactc ggagagccag ccagagaagg agagccgcca gagcctggca
3781 tgccccgccg agccacctgc cctgccccac gggctggaga aagaccagat caagacgctg
3841 agcacatctg agcagttcta ctcgcgcttc tgtctgtaca cgcggcaggg tgctgagccc
3901 gaggccccac atagggccca gccggctgag ccccagcccc tgggcaccca ggtgcccccc
3961 gagaaagacc gctgcacctc ccctccaggg ctcagctaca tgaaggccaa agagaagact
4021 gtggaagacc tgaagtcgga ggagctggcc agggagatcg tggggaagga taagtccctg
4081 gccgacatcc tggatcccag tgtgaagatc aaaaccacta tggacttgat ggaaggcatc
4141 ttccccaaag acgagcacct cctggaagaa gcccagcaac ggaggaagct gctccccaaa
4201 atcccctctc ctagaagcac agaggagagg aaagaggagc ccagcgtgcc tgcggccgtg
4261 tccctggcca ccaattctac ctactacagc acgtcggccc ccaaggcgga gctgctgatc
4321 aagatgaagg acctgcagga gcagcaggag cacgaagagg attcgggaag cgacttggac
4381 cacgacctgt cggtgaagaa gcaggagctc atcgagagca tcagccgcaa gctgcaggtg
4441 ctccgggagg cccgcgagag cctgctggag gacgtgcagg ccaacaccgt gctgggggcc
4501 gaggtggagg ccatcgtgaa aggcgtctgc aagcccagcg agtttgacaa gttccggatg
4561 ttcattggag acctggacaa agtggtgaac ctcctgctgt cgctgtcagg ccgcctggcc
4621 cgggtggaga atgccctcaa taatttggac gacggcgctt ctcccggtga tcggcaatca
4681 ctgcttgaga agcagagagt cctgatccag cagcacgagg acgccaagga gctcaaggag
4741 aacctggacc gccgcgagcg catcgtcttt gacattttgg ccaactatct gagcgaggag
4801 agcctcgcgg actatgagca cttcgtgaag atgaagtcgg ccctcatcat cgagcagcgg
4861 gagctggaag ataaaatcca ccttggtgaa gagcagctga agtgcttatt ggacagcctt
4921 cagcccgaaa ggggcaaata agagaccagt ccccggtgga ggaggggcac ggggcctccg
4981 agctccagct ccgttcccaa ggatactcgt gaagacccca tctgtgttca tggcctggaa
5041 agagacttct cccatagcaa agaggctgtt ataaaagcaa taacttttgt gtttgtgtgg
5101 gatgatttat ttaatttttt agtttcccct ttgattgctg agagccattt tcctttacac
5161 ataactacac ctgacaccag gctctgctgg atgtgagttt ccactgcatg ggctgtgggc
5221 tgggcctgtg gtgcctgccg agtggtcact gtcagtggga aacccgttgt tcctcccgtc
5281 ttcagatgct gagccaactg cttggacagc agccagcgcg tcatgacgtg catgagaggg
5341 ggaccctggt gctcatcttc tcttgtcatt catccaggca tgggctgcca ggttttgtcc
5401 ctgctcgttc aacagtgtga gcatttgtct ctgttatcta atgatgttct ctgacccagc
5461 agaaatcatc atcatgatga tgataattta ttaacttttt ggaagggtga atagtttcct
5521 aatggttaaa aaccaactgt gaaaggaacc acctgtgtgg ttgggttcac tcattctcag
5581 attaaattgc cacttaaaga aataacgtgc atgctttaaa aaacacagtc acgcaccaag
5641 caggcaaata gctttagtcc ttctcacctc acatcacagt tgttctgcaa agtaaaattt
5701 tttggttaag agcgtgtcca gtagtaatgt gcttgttagc tgtttctcaa gaccaacaga
5761 agattttttc agttactttc cccccatgta ttttgtatgc atatgattgt ccgtgataat
5821 tggctacttt tccattgttt cctccttaaa tcgtttagca tggcatgagg gccacattcc
5881 atggacggga agaccccttc ctcttcagag gtcccgtgga ctacacagct cctgagcttg
5941 atctttttct gccatgaagt ttaaagattc tatgcccatt tccttgattg aaatggcagg
6001 attctaaaga gagcctggtt tgttaaaaga aaacactgtc atgctgtcag ttcccaattg
6061 acaagtcaca gactgggaga aaatatttgc aaatcgtgta tctgacaaaa ggtttgtgtc
6121 caggatgtac aaagaactct caaaccggat agtaagaaaa caaacagccc aagtgaaaag
6181 caggcaaaag acttgaatag acacttcacc aaagagcata cacgcgtggc aaacaagcac
6241 acgaaaagac gttcagccgc cgatggcttg gttataattt ataacttact tatttttatc
6301 taataattgt agattcagtg tatttcttca aaaaatgttt aattaaatgc atgttaatgg
6361 tgagtgaatc ccttgggtga cttcgtgttt aggtcgtatt agggcatttg ttggatcaac
6421 ggatcatttt aaccctgact tccccttatt cccataaaag aagttttcca gtggaatgga
6481 gatttcattt tgtcagcagc agtgaccaca gccttaccaa agcagacgcg tgcgcgtgca
6541 cagatgcaca cacacagatg tcttaaaaga ctagaatcca cacttcctga gccagagggg
6601 ccgtgttgac ggtaatgcat tctctataga gccaagtcca aactggcaag ctcaatgatg
6661 caggcaataa accgcctttt tggcagccta ccaatgccaa aaggataaat gtctttccaa
6721 aagtgtgtat tcctgttaaa ttaagctctt gctaacttga aaaatccctg ttctgccagc
6781 gaagcttcct cctcctctcc agctggtagt cacttgcgtg aatgctggtc agtctgaaaa
6841 ggtgaagctg gctgtgcact tacccccatc tttctccctc ggggagacga cccaaggaat
6901 ttcagagtat tttgtttggc agagctttta cctgttattc tttgccctca aatacagtat
6961 tgtggtcatt ttgatgatat gtgtgtaaaa tgtgaataat ccaattggtg tctgtactca
7021 gccttttgat gtctttttag gactttctct tctacacagc aatacgtcgt gctcgagtat
7081 ccttgtagca aagcacatag agccagctgt cctgtcagtt cccctgtttg cctctgaaac
7141 gtctggttag tggggaccca aagattctag tgagtcaaca tccataactc tgtatctagt
7201 tgtattattc atagaaaatc aatctggtgc taatggttgg ccctggtgtt gttgggtggc
7261 agctgctcct tcgccctctt gtagtgtggc tgtggagggc tctgcctatg gggggtggcc
7321 tgtggcttgt atccttcagt ccaccacagc aaatgtgtgt agatttcatg ctcgacactt
7381 accactcacc tatcaacaga tcatcctgct tgactgtaac aaaataaata gtgtctcttc
7441 aagtg
//