LOCUS Y11392 2114 bp mRNA linear HUM 07-OCT-2008
DEFINITION Homo sapiens mRNA; candidate gene for APECED.
ACCESSION Y11392
VERSION Y11392.1
KEYWORDS .
SOURCE Homo sapiens (human)
ORGANISM Homo sapiens
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
REFERENCE 1
AUTHORS Scott H.S., Kyriadou D., Peterson P., Heino M., Tahtinen M.,
Krohn K., Chen H., Rossier C., Lalioti M.D., Antonarakis S.E.
TITLE Characterization of a novel gene, C21orf2, on human chromosome
21q22.3 and its exclusion as the APECED gene by mutation analysis
JOURNAL Genomics 47(1), 64-70(1998).
PUBMED 9465297
REFERENCE 2 (bases 1 to 2114)
AUTHORS Scott H.S.S.S.
JOURNAL Submitted (20-FEB-1997) to the INSDC. H.S.S.S. Scott, University Of
Geneva Medical School, Department Of Genetics And Microbiology, 1
Rue Michel Servet, 1211 Geneva 4, SWITZERLAND
FEATURES Location/Qualifiers
source 1..2114
/db_xref="H-InvDB:HIT000325653"
/organism="Homo sapiens"
/chromosome="21"
/map="q22.3"
/mol_type="mRNA"
/dev_stage="fetal"
/clone="IMAGE 592194, 308937, 303091"
/tissue_type="lung, pancreas"
/db_xref="taxon:9606"
CDS 69..839
/product="hypothetical protein"
/note="APECED candidate gene"
/db_xref="GOA:O43822"
/db_xref="H-InvDB:HIT000325653.13"
/db_xref="HGNC:HGNC:1260"
/db_xref="InterPro:IPR001611"
/db_xref="InterPro:IPR003603"
/db_xref="InterPro:IPR032675"
/db_xref="InterPro:IPR037390"
/db_xref="UniProtKB/Swiss-Prot:O43822"
/protein_id="CAA72202.1"
/translation="MKLTRKMVLTRAKASELHSVRKLNCWGSRLTDISICQEMPSLEV
ITLSVNSISTLEPVSRCQRLSELYLRRNRIPSLAELFYLKGLPRLRVLWLAENPCCGT
SPHRYRMTVLRTLPRLQKLDNQAVTEEELSRALSEGEEITAAPEREGTGHGGPKLCCT
LSSLSSAAETGRDPLDSEEEATSGAQDERGLKPPSRGQFPSLSARDASSSHRGRNVLT
AILLLLRELDAEGLEAVQQTVGSRLQALRGEEVQEHAE"
BASE COUNT 402 a 626 c 696 g 390 t
ORIGIN
1 ccgcgcagtc gtcacccgcc cgggatcagg aggccggggg cgcccgccgg tcgggcctgg
61 gcggccgcat gaagctgacg cggaagatgg ttctgacccg agccaaggcc tcggagctgc
121 acagcgtgcg caagctcaac tgctggggca gccgcctcac agatatctcc atttgccagg
181 agatgcccag cctggaggtg atcacgctca gtgtcaacag catctccacc ctggagcctg
241 tgagccggtg ccagcgcctg agtgagctgt acctgcggag gaaccgcatc cccagcctgg
301 ctgagctctt ctacctgaag gggctgccgc gtctgcgggt gctgtggctg gccgagaacc
361 cgtgctgcgg caccagcccc caccgctacc gcatgaccgt gctgcgcacc ctgccgcgcc
421 tacagaagct ggacaaccag gctgtgacgg aggaggagct gtcccgtgca ctgagtgagg
481 gagaggagat cactgcggcc ccagagagag agggcacagg ccacggcggc cccaagctat
541 gctgcacact gagctccctc agctccgctg ctgagactgg ccgggacccg ctggacagcg
601 aggaggaggc aaccagcggc gcccaggatg aacgtggcct gaagccgcct tcccggggcc
661 agtttccttc cctctcagcc agggatgcct cgagcagcca caggggcagg aacgtcctga
721 ctgccatcct gctgctgctg cgggagctgg atgcagaggg gctggaggcc gtgcagcaga
781 ctgtgggcag ccggctgcag gccctgcgtg gggaagaggt gcaggagcac gccgagtgac
841 cgcaggacct gaacgccgct ccagcctcca cggggacccc agcgtcttcc ccagcccccg
901 ggagctggag ggtggctgcc atggccgcag ccccggcccc acacaaaagc ctccccggtt
961 tgccacatcg gccgagggca ggagtgggtg ttaggtactg gctaaccggg gcggtggaga
1021 tgcctgtcta caccagtcct gtccccagga ctccccttct gtggtctgga ggttctaggc
1081 tggcctgggc tcttaaaggg aggattttgc aggctgtcct ccctaataaa agattttccc
1141 aaggttgatc tggaggtgac gtttcccaag gcatggttgt gacagtcttc ctgaaagcaa
1201 gggccgtttc tccacagaat gaggaggtct tcacggatgg ctttgccgat tccagccctt
1261 ggtccttgga tagatttctg ttgggcaagg gagacttcga gaatgctggc acccatagcg
1321 acatctgccc tgagctgctc agcaggcagg cagcagcctc ccgcacccat gggagagagt
1381 tttgttttct tggccgggct gggcaggtgc gccttccttt ctctctcctg tgaagaactg
1441 caggagggcc ctcagctgtg aggttgtgga tgaacaggcc tgttcgccct ggggtccggg
1501 cctggcacag gaagcagcta gactagggga gtccttggag catctgagag gggttttctt
1561 tcctctggga agagtcgcaa gtcttatgag gatgccacaa tctgggcagt gacccgtggc
1621 cctggggacc ttcctagtgc cccccaaaac caaggaagca ttcacgtgag atggggagtc
1681 agccttccag ctggtgtgta ggaaagccag gtccctgggc ccttgtccca tgtggggttg
1741 agatccagat ctccatgaga tattcccatc ctccgccgag cggtgatgcg tgaccgtgtg
1801 tgcaggccgc tgttctccca agctcggggc catgccgtgc caccgtcacc agagccagct
1861 gcagcactgg ggcagccact gtcgccggac ttggggaagc ccagggtgaa gacagtcact
1921 catccgtgca agctctccag aagggatgca agctctccag aaggggtgtg atctctgagc
1981 agtggggagt ggagtcacca ctcgggacat agagggtgga cagttcaggc ctgtgtctgc
2041 ctccttggga ctgtggagtg ggtgccctca gtaaagcgct ttgttggaat ggtaaaaaaa
2101 aaaaaaaaaa aaaa
//