| Entry |
|
|---|
| Gene name |
DKC1, CBF5, DKC, DKCX, NAP57, NOLA4, XAP101
|
|---|
| Definition |
dyskeratosis congenita 1, dyskerin
|
|---|
| Orthology |
| H/ACA ribonucleoprotein complex subunit 4 [EC:5.4.99.-] |
|
|---|
| Organism |
|
|---|
| Pathway |
| Ribosome biogenesis in eukaryotes |
|
|---|
| Module |
| H/ACA ribonucleoprotein complex |
|
|---|
| Disease |
| Dyskeratosis congenita (DC) | | Hoyeraal-Hreidarsson syndrome |
|
|---|
| Brite |
KEGG Orthology (KO) [BR:hsa00001]
Genetic Information Processing
Translation
03008 Ribosome biogenesis in eukaryotes
1736 (DKC1)
Enzymes [BR:hsa01000]
5. Isomerases
5.4 Intramolecular transferases
5.4.99 Transferring other groups
5.4.99.-
1736 (DKC1)
DNA replication proteins [BR:hsa03032]
Eukaryotic Type
DNA Replication Termination Factors
Telomerase complex (Animals)
Dyskerin complex
1736 (DKC1)
 |
|---|
| SSDB |
   |
|---|
| Motif |
 |
|---|
| Other DBs |
NCBI-GI: NCBI-GeneID: OMIM: HGNC: HPRD: Ensembl: Vega: UniProt: |
|---|
| LinkDB |
 |
|---|
| Position |
Xq28
|
|---|
| AA seq |
509 aa  
MADAEVIILPKKHKKKKERKSLPEEDVAEIQHAEEFLIKPESKVAKLDTSQWPLLLKNFD
KLNVRTTHYTPLACGSNPLKREIGDYIRTGFINLDKPSNPSSHEVVAWIRRILRVEKTGH
SGTLDPKVTGCLIVCIERATRLVKSQQSAGKEYVGIVRLHNAIEGGTQLSRALETLTGAL
FQRPPLIAAVKRQLRVRTIYESKMIEYDPERRLGIFWVSCEAGTYIRTLCVHLGLLLGVG
GQMQELRRVRSGVMSEKDHMVTMHDVLDAQWLYDNHKDESYLRRVVYPLEKLLTSHKRLV
MKDSAVNAICYGAKIMLPGVLRYEDGIEVNQEIVVITTKGEAICMAIALMTTAVISTCDH
GIVAKIKRVIMERDTYPRKWGLGPKASQKKLMIKQGLLDKHGKPTDSTPATWKQDESAKK
EVVAEVVKAPQVVAEAAKTAKRKRESESESDETPPAAPQLIKKEKKKSKKDKKAKAGLES
GAEPGDGDSDTTKKKKKKKKAKEVELVSE |
|---|
| 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 |
|---|
