Homo sapiens (human): 1736 Help Entry 1736              CDS       T01001                                  Symbol DKC1, CBF5, CHINE1, DKC, DKCX, NAP57, NOLA4, XAP101 Name (RefSeq) dyskerin pseudouridine synthase 1   KO K11131   H/ACA ribonucleoprotein complex subunit 4 [EC:5.4.99.-] Organism hsa  Homo sapiens (human) Pathway hsa03008   Ribosome biogenesis in eukaryotes Network nt06510  Telomere length regulation   Element N01476   Assembly and trafficking of telomerase N01477   Telomere elongation Disease H00507   Dyskeratosis congenita H00788   Hoyeraal-Hreidarsson syndrome Brite KEGG Orthology (KO) [BR:hsa00001]  09120 Genetic Information Processing   09122 Translation    03008 Ribosome biogenesis in eukaryotes     1736 (DKC1)  09180 Brite Hierarchies   09182 Protein families: genetic information processing    03009 Ribosome biogenesis [BR:hsa03009]     1736 (DKC1)    03032 DNA replication proteins [BR:hsa03032]     1736 (DKC1) Ribosome biogenesis [BR:hsa03009]  Eukaryotic type   Sno RNPs    Box H/ACA snoRNPs     1736 (DKC1)  Prokaryotic type     1736 (DKC1) DNA replication proteins [BR:hsa03032]  Eukaryotic type   DNA Replication Termination Factors    Telomerase complex (animals)     Dyskerin complex      1736 (DKC1) BRITE hierarchy SSDB OrthologParalogGene clusterGFIT Motif Pfam:  DKCLD TruB_C_2 TruB_N PUA UPF0113 Pus10_C Motif Other DBs NCBI-GeneID:  1736 NCBI-ProteinID:  NP_001354 OMIM:  300126 HGNC:  2890 Ensembl:  ENSG00000130826 UniProt:  O60832 Structure PDBPDBj LinkDB All DBs Position X:154762864..154777689 Genome browser AA seq 514 aa AA seqDB search MADAEVIILPKKHKKKKERKSLPEEDVAEIQHAEEFLIKPESKVAKLDTSQWPLLLKNFD KLNVRTTHYTPLACGSNPLKREIGDYIRTGFINLDKPSNPSSHEVVAWIRRILRVEKTGH SGTLDPKVTGCLIVCIERATRLVKSQQSAGKEYVGIVRLHNAIEGGTQLSRALETLTGAL FQRPPLIAAVKRQLRVRTIYESKMIEYDPERRLGIFWVSCEAGTYIRTLCVHLGLLLGVG GQMQELRRVRSGVMSEKDHMVTMHDVLDAQWLYDNHKDESYLRRVVYPLEKLLTSHKRLV MKDSAVNAICYGAKIMLPGVLRYEDGIEVNQEIVVITTKGEAICMAIALMTTAVISTCDH GIVAKIKRVIMERDTYPRKWGLGPKASQKKLMIKQGLLDKHGKPTDSTPATWKQEYVDYS ESAKKEVVAEVVKAPQVVAEAAKTAKRKRESESESDETPPAAPQLIKKEKKKSKKDKKAK AGLESGAEPGDGDSDTTKKKKKKKKAKEVELVSE NT seq 1545 nt NT seq  +upstreamnt  +downstreamnt atggcggatgcggaagtaattattttgccaaagaaacataagaagaaaaaggagcggaag tcattgccagaagaagatgtagccgaaatacaacacgctgaagaatttcttatcaaacct gaatccaaagttgctaagttggacacgtctcagtggccccttttgctaaagaattttgat aagctgaatgtaaggacaacacactatacacctcttgcatgtggttcaaatcctctgaag agagagattggggactatatcaggacaggtttcattaatcttgacaagccctctaacccc tcttcccatgaggtggtagcctggattcgacggatacttcgggtggagaagacagggcac agtggtacgctggatcccaaggtgactggttgtttaatcgtgtgcatagaacgagccact cgcttggtgaagtcacaacagagtgcaggcaaagagtatgtggggattgtccggctgcac aatgctattgaaggggggacccagctttctagggccctagaaactctgacaggtgcctta ttccagcgacccccacttattgctgcagtaaagaggcagctccgagtgaggaccatctac gagagcaaaatgattgaatacgatcctgaaagaagattaggaatcttttgggtgagttgt gaggctggcacctacattcggacattatgtgtgcaccttggtttgttattgggagttggt ggtcagatgcaggagcttcggagggttcgttctggagtcatgagtgaaaaggaccacatg gtgacaatgcatgatgtgcttgatgctcagtggctgtatgataaccacaaggatgagagt tacctgcggcgagttgtttaccctttggaaaagctgttgacatctcataaacggctggtt atgaaagacagtgcagtaaatgccatctgctatggggccaagattatgcttccaggtgtt cttcgatatgaggacggcattgaggtcaatcaggagattgtggttatcaccaccaaagga gaagcaatctgcatggctattgcattaatgaccacagcggtcatctctacctgcgaccat ggtatagtagccaagatcaagagagtgatcatggagagagacacttaccctcggaagtgg ggtttaggtccaaaggcaagtcagaagaagctgatgatcaagcagggccttctggacaag catgggaagcccacagacagcacacctgccacctggaagcaggagtatgttgactacagt gagtctgccaaaaaagaggtggttgctgaagtggtaaaagccccgcaggtagttgccgaa gcagcaaaaactgcgaagcggaagcgagagagtgagagtgaaagtgacgagactcctcca gcagctcctcagttgatcaagaaggaaaagaagaagagtaagaaggacaagaaggccaaa gctggtctggagagcggggccgagcctggagatggggacagtgataccaccaagaagaag aagaagaagaagaaagcaaaagaggtagaattggtttctgagtag

Homo sapiens (human): 55505 Help Entry 55505             CDS       T01001                                  Symbol NOP10, CHINE2, DKCB1, NOLA3, NOP10P, PFBMFT9 Name (RefSeq) NOP10 ribonucleoprotein   KO K11130   H/ACA ribonucleoprotein complex subunit 3 Organism hsa  Homo sapiens (human) Pathway hsa03008   Ribosome biogenesis in eukaryotes Network nt06510  Telomere length regulation   Element N01476   Assembly and trafficking of telomerase N01477   Telomere elongation Disease H00507   Dyskeratosis congenita H02569   Pulmonary fibrosis and/or bone marrow failure, telomere-related Brite KEGG Orthology (KO) [BR:hsa00001]  09120 Genetic Information Processing   09122 Translation    03008 Ribosome biogenesis in eukaryotes     55505 (NOP10)  09180 Brite Hierarchies   09182 Protein families: genetic information processing    03009 Ribosome biogenesis [BR:hsa03009]     55505 (NOP10)    03032 DNA replication proteins [BR:hsa03032]     55505 (NOP10) Ribosome biogenesis [BR:hsa03009]  Eukaryotic type   Sno RNPs    Box H/ACA snoRNPs     55505 (NOP10)  Prokaryotic type     55505 (NOP10) DNA replication proteins [BR:hsa03032]  Eukaryotic type   DNA Replication Termination Factors    Telomerase complex (animals)     Dyskerin complex      55505 (NOP10) BRITE hierarchy SSDB OrthologParalogGene clusterGFIT Motif Pfam:  Nop10p Motif Other DBs NCBI-GeneID:  55505 NCBI-ProteinID:  NP_061118 OMIM:  606471 HGNC:  14378 Ensembl:  ENSG00000182117 UniProt:  Q9NPE3 Structure PDBPDBj LinkDB All DBs Position 15:complement(34341719..34343136) Genome browser AA seq 64 aa AA seqDB search MFLQYYLNEQGDRVYTLKKFDPMGQQTCSAHPARFSPDDKYSRHRITIKKRFKVLMTQQP RPVL NT seq 195 nt NT seq  +upstreamnt  +downstreamnt atgtttctccagtattacctcaacgagcagggagatcgagtctatacgctgaagaaattt gacccgatgggacaacagacctgctcagcccatcctgctcggttctccccagatgacaaa tactctcgacaccgaatcaccatcaagaaacgcttcaaggtgctcatgacccagcaaccg cgccctgtcctctga

Homo sapiens (human): 55651 Help Entry 55651             CDS       T01001                                  Symbol NHP2, DKCB2, NHP2P, NOLA2 Name (RefSeq) NHP2 ribonucleoprotein   KO K11129   H/ACA ribonucleoprotein complex subunit 2 Organism hsa  Homo sapiens (human) Pathway hsa03008   Ribosome biogenesis in eukaryotes Network nt06510  Telomere length regulation   Element N01476   Assembly and trafficking of telomerase N01477   Telomere elongation Disease H00507   Dyskeratosis congenita Brite KEGG Orthology (KO) [BR:hsa00001]  09120 Genetic Information Processing   09122 Translation    03008 Ribosome biogenesis in eukaryotes     55651 (NHP2)  09180 Brite Hierarchies   09182 Protein families: genetic information processing    03009 Ribosome biogenesis [BR:hsa03009]     55651 (NHP2)    03032 DNA replication proteins [BR:hsa03032]     55651 (NHP2) Ribosome biogenesis [BR:hsa03009]  Eukaryotic type   Sno RNPs    Box H/ACA snoRNPs     55651 (NHP2) DNA replication proteins [BR:hsa03032]  Eukaryotic type   DNA Replication Termination Factors    Telomerase complex (animals)     Dyskerin complex      55651 (NHP2) BRITE hierarchy SSDB OrthologParalogGene clusterGFIT Motif Pfam:  Ribosomal_L7Ae Ribosomal_L31e Phage_RpbA Motif Other DBs NCBI-GeneID:  55651 NCBI-ProteinID:  NP_060308 OMIM:  606470 HGNC:  14377 Ensembl:  ENSG00000145912 UniProt:  Q9NX24 Structure PDBPDBj LinkDB All DBs Position 5:complement(178149463..178153885) Genome browser AA seq 153 aa AA seqDB search MTKIKADPDGPEAQAEACSGERTYQELLVNQNPIAQPLASRRLTRKLYKCIKKAVKQKQI RRGVKEVQKFVNKGEKGIMVLAGDTLPIEVYCHLPVMCEDRNLPYVYIPSKTDLGAAAGS KRPTCVIMVKPHEEYQEAYDECLEEVQSLPLPL NT seq 462 nt NT seq  +upstreamnt  +downstreamnt atgaccaaaataaaggcagatcccgacgggcccgaggctcaggcggaggcgtgttccggg gagcgcacctaccaggagctgctggtcaaccagaaccccatcgcgcagcccctggcttct cgccgcctcacgcggaagctctacaaatgcatcaagaaagcggtgaagcagaagcagatt cggcgcggggtgaaagaggttcagaaatttgtcaacaaaggagaaaaagggatcatggtt ttggcaggagacacactgcccattgaggtatactgccatctcccagtcatgtgtgaggac cgaaatttgccctatgtctatatcccctctaagacggacctgggtgcagccgcaggctcc aagcgccccacctgtgtgataatggtcaagccccatgaggagtaccaggaggcttacgat gagtgcctggaggaggtgcagtccctgcccctacccctatga

Homo sapiens (human): 54433 Help Entry 54433             CDS       T01001                                  Symbol GAR1, NOLA1 Name (RefSeq) GAR1 ribonucleoprotein   KO K11128   H/ACA ribonucleoprotein complex subunit 1 Organism hsa  Homo sapiens (human) Pathway hsa03008   Ribosome biogenesis in eukaryotes Network nt06510  Telomere length regulation   Element N01476   Assembly and trafficking of telomerase N01477   Telomere elongation Brite KEGG Orthology (KO) [BR:hsa00001]  09120 Genetic Information Processing   09122 Translation    03008 Ribosome biogenesis in eukaryotes     54433 (GAR1)  09180 Brite Hierarchies   09182 Protein families: genetic information processing    03009 Ribosome biogenesis [BR:hsa03009]     54433 (GAR1)    03032 DNA replication proteins [BR:hsa03032]     54433 (GAR1) Ribosome biogenesis [BR:hsa03009]  Eukaryotic type   Sno RNPs    Box H/ACA snoRNPs     54433 (GAR1) DNA replication proteins [BR:hsa03032]  Eukaryotic type   DNA Replication Termination Factors    Telomerase complex (animals)     Dyskerin complex      54433 (GAR1) BRITE hierarchy SSDB OrthologParalogGene clusterGFIT Motif Pfam:  Gar1 Motif Other DBs NCBI-GeneID:  54433 NCBI-ProteinID:  NP_061856 OMIM:  606468 HGNC:  14264 Ensembl:  ENSG00000109534 UniProt:  Q9NY12 Structure PDBPDBj LinkDB All DBs Position 4:109815510..109824737 Genome browser AA seq 217 aa AA seqDB search MSFRGGGRGGFNRGGGGGGFNRGGSSNHFRGGGGGGGGGNFRGGGRGGFGRGGGRGGFNK GQDQGPPERVVLLGEFLHPCEDDIVCKCTTDENKVPYFNAPVYLENKEQIGKVDEIFGQL RDFYFSVKLSENMKASSFKKLQKFYIDPYKLLPLQRFLPRPPGEKGPPRGGGRGGRGGGR GGGGRGGGRGGGFRGGRGGGGGGFRGGRGGGFRGRGH NT seq 654 nt NT seq  +upstreamnt  +downstreamnt atgtcttttcgaggcggaggtcgtggaggctttaatcgaggtggtggaggtggcggcttc aaccgaggtggcagcagcaaccacttccgaggtggaggcggcggtggaggcggcggcaat ttcagaggcggcggcaggggaggatttggacgagggggtggccgcggaggctttaacaaa ggccaagaccaaggacctccagaacgtgtagtcttattaggagagttcctgcatccctgt gaagatgacatagtttgtaaatgtaccacagatgaaaataaggtgccttatttcaatgct cctgtttacttagaaaacaaagaacaaattggaaaagtggatgaaatatttggacaactc agagatttttatttttcagttaagttgtcagaaaacatgaaggcttcatcctttaaaaaa ctacagaagttttatatagacccatataagctgctgccactgcagaggtttttacctcga cctccaggtgagaaaggacctccaagaggtggtggcaggggaggccgaggaggaggaaga ggaggaggtggcagaggtggtggcagaggcggtggttttagaggtggaagaggaggtgga ggtgggggcttcagaggaggaagaggtggtggtttcagagggagaggacattaa

Homo sapiens (human): 92345 Help Entry 92345             CDS       T01001                                  Symbol NAF1, PFBMFT7 Name (RefSeq) nuclear assembly factor 1 ribonucleoprotein   KO K14763   H/ACA ribonucleoprotein complex non-core subunit NAF1 Organism hsa  Homo sapiens (human) Network nt06510  Telomere length regulation   Element N01476   Assembly and trafficking of telomerase Disease H02569   Pulmonary fibrosis and/or bone marrow failure, telomere-related Brite KEGG Orthology (KO) [BR:hsa00001]  09180 Brite Hierarchies   09182 Protein families: genetic information processing    03009 Ribosome biogenesis [BR:hsa03009]     92345 (NAF1) Ribosome biogenesis [BR:hsa03009]  Eukaryotic type   Sno RNPs    Box H/ACA snoRNPs     92345 (NAF1) BRITE hierarchy SSDB OrthologParalogGene clusterGFIT Motif Pfam:  Gar1 SR-25 Motif Other DBs NCBI-GeneID:  92345 NCBI-ProteinID:  NP_612395 OMIM:  617868 HGNC:  25126 Ensembl:  ENSG00000145414 UniProt:  Q96HR8 Structure PDBPDBj LinkDB All DBs Position 4:complement(163103929..163166890) Genome browser AA seq 494 aa AA seqDB search MEVVEAAAAQLETLKFNGTDFGVGEGPAAPSPGSAPVPGTQPPLQSFEGSPDAGQTVEVK PAGEQPLQPVLNAVAAGTPAPQPQPPAESPACGDCVTSPGAAEPARAPDSLETSDSDSDS DSETDSDSSSSSSSSSSSSSSSSSSCISLPPVLSDGDDDLQIEKENKNFPLKTKDELLLN ELPSVEELTIILPEDIELKPLGMVSSIIEQLVIIESMTNLPPVNEETVIFKSDRQAAGKI FEIFGPVAHPFYVLRFNSSDHIESKGIKIKETMYFAPSMKDFTQYIFTEKLKQDKGSDAS WKNDQEPPPEALDFSDDEKEKEAKQRKKSQIQGRKKLKSEFNEPGEDFTEVHQNWNAHSS ASEHAKGYRNREFTRGFSRARYPRSCHGRPPPQHFYNSEHMVSQETSGFPSQRQNNPIMP QYPFPLPVFDMHNFPLRPPPPPPPPPVNMGWATPNMAAHPLLNLPYSLPPPPPPPPLPPP PSSGDSNSHFGPYY NT seq 1485 nt NT seq  +upstreamnt  +downstreamnt atggaggtagtggaggccgccgccgctcagctggaaactctgaaattcaatggcaccgac tttggagttggggaaggtccggcggctccgtctccgggctctgcccctgtgccagggaca cagccgccgctacagtcgtttgaggggtccccggacgctgggcagaccgtggaggttaag cctgccggggagcagcctctgcagcccgttctgaacgccgtcgcggccgggaccccggcg ccgcagccacagccaccggctgaatcgccggcctgcggagactgcgtcacctccccagga gccgcagagcctgcgcgggcgccggactccttggagacctcggactcggattcggactcg gacagtgaaacagattcagatagttcaagttcatcgtcttcctcttcatcttcctcatcg tcgtcttcttcctcttgtatatcacttcctccagtgctgtcagatggagatgatgattta caaattgagaaggaaaataagaattttcctcttaaaacaaaagatgaattacttcttaat gaactgccttctgttgaagaactcactattattctgcctgaagatattgagttaaagcct cttgggatggtttcaagtattattgaacaactagtaataattgaatctatgactaaccta cctccagttaatgaggagactgtaatttttaaaagtgatcgacaagcagcaggaaagata ttcgagatatttggacctgttgcacatccattttatgtgttacggtttaattcttcagat cacattgagagtaaaggtattaaaataaaggagactatgtattttgctccatcaatgaaa gatttcactcaatatatattcacagaaaaactaaaacaggataagggatcagatgcatca tggaagaatgatcaggaaccaccaccagaggccttagattttagtgatgatgaaaaagag aaggaagccaaacagaggaaaaaatctcagattcaaggccggaaaaaactcaaatctgaa tttaatgagcctggtgaagattttactgaagtacatcagaattggaatgctcatagctct gcttcagagcatgcaaaaggatatcgtaacagagaattcacacgaggattttccagggcc agataccctcgatcttgccatggcaggcctccacctcagcatttctataactcagaacat atggtatctcaggagacttcaggatttccttctcagagacaaaataatcccattatgcca caatacccctttcctcttccagtgtttgacatgcataattttcccctccgccctccaccc ccaccaccacccccacctgtaaacatgggttgggctacaccaaacatggctgctcatcca ttacttaacttaccatactccctacccccaccccctccccctccaccactgcctcctcca ccctcttctggagatagtaattctcattttggaccttactattag

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