| General information | Literature | Expression | Regulation | Mutation | Homolog | Interaction |
Basic Information | |
|---|---|
Gene ID | 1736 |
Name | DKC1 |
Synonym | CBF5|DKC|DKCX|NAP57|NOLA4|XAP101;dyskeratosis congenita 1, dyskerin;DKC1;dyskeratosis congenita 1, dyskerin |
Definition | CBF5 homolog|H/ACA ribonucleoprotein complex subunit 4|nopp140-associated protein of 57 kDa|nucleolar protein NAP57|nucleolar protein family A member 4|snoRNP protein DKC1 |
Position | Xq28 |
Gene Type | protein-coding |
Pathways and Diseases | |
Pathway | Telomere Extension By Telomerase;PID Reactome;500667 |
Pathway | Chromosome Maintenance;Reactome;REACT:22172 |
Pathway | Regulation of Telomerase;PID Curated;200072 |
Disease | Dyskeratosis congenita-1;OMIM |
Disease | Hoyeraal-Hreidarsson syndrome;OMIM |
External Links | |
Links to Entrez Gene | 1736 |
Links to all GeneRIF Items | 1736 |
Links to iHOP | 1736 |
Sequence Information | |
Nucleotide Sequence | >1736 : length: 3204 GTACTGGCCGAGCCAGCAAATCGCATTGCGCAGACGACCAGCGGGCGCCTCGGATTCCGC CCCCGGGATGGCCCCGCCTCCTCCCGCCCCGCGGCAAGGCACGCACAGGGCAGTGCGCGG GTGGGTGGGTCCTAGCAGCGCGGCCTGACGGGACCAAGGCGGCGGGAGTCTGCGGTCGTT CCCTCGGCTGTGGACCGGGCGGCACGCACGCGGTGCAGGGTAACATGGCGGATGCGGAAG TAATTATTTTGCCAAAGAAACATAAGAAGAAAAAGGAGCGGAAGTCATTGCCAGAAGAAG ATGTAGCCGAAATACAACACGCTGAAGAATTTCTTATCAAACCTGAATCCAAAGTTGCTA AGTTGGACACGTCTCAGTGGCCCCTTTTGCTAAAGAATTTTGATAAGCTGAATGTAAGGA CAACACACTATACACCTCTTGCATGTGGTTCAAATCCTCTGAAGAGAGAGATTGGGGACT ATATCAGGACAGGTTTCATTAATCTTGACAAGCCCTCTAACCCCTCTTCCCATGAGGTGG TAGCCTGGATTCGACGGATACTTCGGGTGGAGAAGACAGGGCACAGTGGTACTCTGGATC CCAAGGTGACTGGTTGTTTAATCGTGTGCATAGAACGAGCCACTCGCTTGGTGAAGTCAC AACAGAGTGCAGGTATGTGGGAGAGGGAGGGAAGGACTGGCTAGAGTGAAAAGCTTTCTG TATTTCCCTTCTATGTTTTGTCTGCTGGAAACTATTTCTTCATTAAGAAAAAAAAAAATC CTAAAGCAAGGATATTGTTTTGGTTTCTGTGTACGTTCTGTCCCCTGCCAGATCTTGGTG GTCCGCGCTTTTTGGAATTCCACATACTAAGCATGTATTCATCAAGCTGACTGGATCCAT TTGTCCGGGTTCAGCTCTCAGCTTGTCACTCCAGGCTTCTCACTCTGTGCTACCGCTTCT GCCTAAAGTATCCTTCGTTCATTTTTATCTGAGAAAAGCCTGCTTATCTTGCAAGGCTTT TTCCACGCAGCTTCTACACTGAGTACTCCCAACTGTCCCTGTTAGTACATTGAATTCCCA GTGAGAAAGTGTCTTCATTCTTTCCCACATCATCACCATGAAATCTCTCTTAATGCAAAT TTTATAGAAACACAAGGTCAAACTGCCGCTTTTCCTGCTGTGCAAAATGGGAGTGACTGA GCATATAAGAAATATGGAAAACAGAAAACTCAGTGGCCACACCTGACTACTCTTTTGTCA TTTTTCAGGCAAAGAGTATGTGGGGATTGTCCGGCTGCACAATGCTATTGAAGGGGGGAC CCAGCTTTCTAGGGCCCTAGAAACTCTGACAGGTGCCTTATTCCAGCGACCCCCACTTAT TGCTGCAGTAAAGAGGCAGCTCCGAGTGAGGACCATCTACGAGAGCAAAATGATTGAATA CGATCCTGAAAGAAGATTAGGAATCTTTTGGGTGAGTTGTGAGGCTGGCACCTACATTCG GACATTATGTGTGCACCTTGGTTTGTTATTGGGAGTTGGTGGTCAGATGCAGGAGCTTCG GAGGGTTCGTTCTGGAGTCATGAGTGAAAAGGACCACATGGTGACAATGCATGATGTGCT TGATGCTCAGTGGCTGTATGATAACCACAAGGATGAGAGTTACCTGCGGCGAGTTGTTTA CCCTTTGGAAAAGCTGTTGACATCTCATAAACGGCTGGTTATGAAAGACAGTGCAGTAAA TGCCATCTGCTATGGGGCCAAGATTATGCTTCCAGGTGTTCTTCGATATGAGGACGGCAT TGAGGTCAATCAGGAGATTGTGGTTATCACCACCAAAGGAGAAGCAATCTGCATGGCTAT TGCATTAATGACCACAGCGGTCATCTCTACCTGCGACCATGGTATAGTAGCCAAGATCAA GAGAGTGATCATGGAGAGAGACACTTACCCTCGGAAGTGGGGTTTAGGTCCAAAGGCAAG TCAGAAGAAGCTGATGATCAAGCAGGGCCTTCTGGACAAGCATGGGAAGCCCACAGACAG CACACCTGCCACCTGGAAGCAGGAGTATGTTGACTACAGTGAGTCTGCCAAAAAAGAGGT GGTTGCTGAAGTGGTAAAAGCCCCGCAGGTAGTTGCCGAAGCAGCAAAAACTGCGAAGCG GAAGCGAGAGAGTGAGAGTGAAAGTGACGAGACTCCTCCAGCAGCTCCTCAGTTGATCAA GAAGGAAAAGAAGAAGAGTAAGAAGGACAAGAAGGCCAAAGCTGGTCTGGAGAGCGGGGC CGAGCCTGGAGATGGGGACAGTGATACCACCAAGAAGAAGAAGAAGAAGAAGAAAGCAAA AGAGGTAGAATTGGTTTCTGAGTAGTGAAGGCCACTTGAAGCTGGAGGAGAAACTAAAGC CTTATTGAGAAAACATGTTATAGATCCTTTTGTTGCTGAGAGAGTGGAACATAGGTCCTA GACAGGGTGAAGAGTTCTGGCACATTTTAGCTGCTACTTTGAGACCTCGGTGATGTTACC TGGTGTGGTCATCCCATCTTGTCCTGTTTTAAGGATATGGGTGGTGAAAGATGAAAGAGG CAGAGTTTATCCCAATGACTTCTCTGTTTGAGTTGGGAAGCCTCACCTTCAGACCCAGTA ACTGTCCGCAGCTGTCTGCTAGTGGTTGTCTTAACATCGTAGTCCTAGTTTGCATTTTTT AAATCCCCTCTGTTTAAAAGGTTTGTAAAACAAAAACAAAAAACTAAGTCTGCTCAGTGA AATGCTGTAGAACCCTAAATAAGTGGTAGAAGAGTGTCACTGAATTTTGTCTCTGAATTC AGTATAACTGAGTTTTGTCCATGCTGGTGTCTGGGTTATAGGCCTGATGGGCCTGGTAGT TTTCCATCTTGTTCTGGCCTAGAGGTCAGTCCTTTGCACTTCCTCAAAGCTTGTGTACAG TGCTCACCTAAATCCATCTGACTACTTGTTCCTGTGCCCTCTTGTTTTAGGCCTCGTTTA CTTTTAAAAAATGAAATTGTTCATTGCTGGGAGAAGAATGTTGTAATTTTTACTTATTAA AGTCAACTTGTTAAGTTTTTTATGTATTCCTGTTGGGTTTTCTTGTTGATCTCATGCTAG CAGAGCAAAAATTGTAAAATATTTTGATTAAAAATCTAGGGACCTTTATGTCCTATTTGA AATGTGAAAAAAAAAAAAAAAAAA |
Protein Sequence | >1736 : length: 514 MADAEVIILPKKHKKKKERKSLPEEDVAEIQHAEEFLIKPESKVAKLDTSQWPLLLKNFD KLNVRTTHYTPLACGSNPLKREIGDYIRTGFINLDKPSNPSSHEVVAWIRRILRVEKTGH SGTLDPKVTGCLIVCIERATRLVKSQQSAGKEYVGIVRLHNAIEGGTQLSRALETLTGAL FQRPPLIAAVKRQLRVRTIYESKMIEYDPERRLGIFWVSCEAGTYIRTLCVHLGLLLGVG GQMQELRRVRSGVMSEKDHMVTMHDVLDAQWLYDNHKDESYLRRVVYPLEKLLTSHKRLV MKDSAVNAICYGAKIMLPGVLRYEDGIEVNQEIVVITTKGEAICMAIALMTTAVISTCDH GIVAKIKRVIMERDTYPRKWGLGPKASQKKLMIKQGLLDKHGKPTDSTPATWKQEYVDYS ESAKKEVVAEVVKAPQVVAEAAKTAKRKRESESESDETPPAAPQLIKKEKKKSKKDKKAK AGLESGAEPGDGDSDTTKKKKKKKKAKEVELVSE |