| Entry |
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| Gene name |
DKC1, CBF5, DKC, DKCX, NAP57, NOLA4, XAP101
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| Definition |
dyskeratosis congenita 1, dyskerin
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| Orthology |
| H/ACA ribonucleoprotein complex subunit 4 [EC:5.4.99.-] |
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| Organism |
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| Pathway |
| Ribosome biogenesis in eukaryotes |
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| Module |
| H/ACA ribonucleoprotein complex |
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| Disease |
| Dyskeratosis congenita (DC) | | Hoyeraal-Hreidarsson syndrome |
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| Class |
Genetic Information Processing; Translation; Ribosome biogenesis in eukaryotes [PATH: hsa03008]
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| SSDB |
   |
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| Motif |
 |
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| Other DBs |
NCBI-GI: NCBI-GeneID: OMIM: HGNC: HPRD: Ensembl: Vega: UniProt: |
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| LinkDB |
 |
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| Position |
Xq28
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| AA seq |
509 aa  
MADAEVIILPKKHKKKKERKSLPEEDVAEIQHAEEFLIKPESKVAKLDTSQWPLLLKNFD
KLNVRTTHYTPLACGSNPLKREIGDYIRTGFINLDKPSNPSSHEVVAWIRRILRVEKTGH
SGTLDPKVTGCLIVCIERATRLVKSQQSAGKEYVGIVRLHNAIEGGTQLSRALETLTGAL
FQRPPLIAAVKRQLRVRTIYESKMIEYDPERRLGIFWVSCEAGTYIRTLCVHLGLLLGVG
GQMQELRRVRSGVMSEKDHMVTMHDVLDAQWLYDNHKDESYLRRVVYPLEKLLTSHKRLV
MKDSAVNAICYGAKIMLPGVLRYEDGIEVNQEIVVITTKGEAICMAIALMTTAVISTCDH
GIVAKIKRVIMERDTYPRKWGLGPKASQKKLMIKQGLLDKHGKPTDSTPATWKQDESAKK
EVVAEVVKAPQVVAEAAKTAKRKRESESESDETPPAAPQLIKKEKKKSKKDKKAKAGLES
GAEPGDGDSDTTKKKKKKKKAKEVELVSE |
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| NT seq |
1530 nt  +upstreamnt +downstreamnt
atggcggatgcggaagtaattattttgccaaagaaacataagaagaaaaaggagcggaag
tcattgccagaagaagatgtagccgaaatacaacacgctgaagaatttcttatcaaacct
gaatccaaagttgctaagttggacacgtctcagtggccccttttgctaaagaattttgat
aagctgaatgtaaggacaacacactatacacctcttgcatgtggttcaaatcctctgaag
agagagattggggactatatcaggacaggtttcattaatcttgacaagccctctaacccc
tcttcccatgaggtggtagcctggattcgacggatacttcgggtggagaagacagggcac
agtggtactctggatcccaaggtgactggttgtttaatcgtgtgcatagaacgagccact
cgcttggtgaagtcacaacagagtgcaggcaaagagtatgtggggattgtccggctgcac
aatgctattgaaggggggacccagctttctagggccctagaaactctgacaggtgcctta
ttccagcgacccccacttattgctgcagtaaagaggcagctccgagtgaggaccatctac
gagagcaaaatgattgaatacgatcctgaaagaagattaggaatcttttgggtgagttgt
gaggctggcacctacattcggacattatgtgtgcaccttggtttgttattgggagttggt
ggtcagatgcaggagcttcggagggttcgttctggagtcatgagtgaaaaggaccacatg
gtgacaatgcatgatgtgcttgatgctcagtggctgtatgataaccacaaggatgagagt
tacctgcggcgagttgtttaccctttggaaaagctgttgacatctcataaacggctggtt
atgaaagacagtgcagtaaatgccatctgctatggggccaagattatgcttccaggtgtt
cttcgatatgaggacggcattgaggtcaatcaggagattgtggttatcaccaccaaagga
gaagcaatctgcatggctattgcattaatgaccacagcggtcatctctacctgcgaccat
ggtatagtagccaagatcaagagagtgatcatggagagagacacttaccctcggaagtgg
ggtttaggtccaaaggcaagtcagaagaagctgatgatcaagcagggccttctggacaag
catgggaagcccacagacagcacacctgccacctggaagcaggatgagtctgccaaaaaa
gaggtggttgctgaagtggtaaaagccccgcaggtagttgccgaagcagcaaaaactgcg
aagcggaagcgagagagtgagagtgaaagtgacgagactcctccagcagctcctcagttg
atcaagaaggaaaagaagaagagtaagaaggacaagaaggccaaagctggtctggagagc
ggggccgagcctggagatggggacagtgataccaccaagaagaagaagaagaagaagaaa
gcaaaagaggtagaattggtttctgagtag |
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