Homo sapiens (human): 3981 Help Entry 3981              CDS       T01001                                  Symbol LIG4, LIG4S Name (RefSeq) DNA ligase 4   KO K10777   DNA ligase 4 [EC:6.5.1.1] Organism hsa  Homo sapiens (human) Pathway hsa03450   Non-homologous end-joining Network nt06506  Double-strand break repair   Element N01445   Non-homologous end-joining N01467   V(D)J recombination Disease H00094   Immunodeficiency associated with DNA repair defects H02015   LIG4 syndrome Brite KEGG Orthology (KO) [BR:hsa00001]  09120 Genetic Information Processing   09124 Replication and repair    03450 Non-homologous end-joining     3981 (LIG4)  09180 Brite Hierarchies   09182 Protein families: genetic information processing    03400 DNA repair and recombination proteins [BR:hsa03400]     3981 (LIG4) Enzymes [BR:hsa01000]  6. Ligases   6.5  Forming phosphoric-ester bonds    6.5.1  Ligases that form phosphoric-ester bonds (only sub-subclass identified to date)     6.5.1.1  DNA ligase (ATP)      3981 (LIG4) DNA repair and recombination proteins [BR:hsa03400]  Eukaryotic type   DSBR (double strand breaks repair)    NHEJ (non-homologous end-joining)     DNA Ligase 4 complex      3981 (LIG4) BRITE hierarchy SSDB OrthologParalogGene clusterGFIT Motif Pfam:  DNA_ligase_A_M DNA_ligase_A_N BRCT DNA_ligase_IV DNA_ligase_A_C BRCT_2 RNA_ligase mRNA_cap_enzyme ATG17_like Motif Other DBs NCBI-GeneID:  3981 NCBI-ProteinID:  NP_001091738 OMIM:  601837 HGNC:  6601 Ensembl:  ENSG00000174405 UniProt:  P49917 Structure PDBPDBj LinkDB All DBs Position 13:complement(108207442..108218349) Genome browser AA seq 911 aa AA seqDB search MAASQTSQTVASHVPFADLCSTLERIQKSKGRAEKIRHFREFLDSWRKFHDALHKNHKDV TDSFYPAMRLILPQLERERMAYGIKETMLAKLYIELLNLPRDGKDALKLLNYRTPTGTHG DAGDFAMIAYFVLKPRCLQKGSLTIQQVNDLLDSIASNNSAKRKDLIKKSLLQLITQSSA LEQKWLIRMIIKDLKLGVSQQTIFSVFHNDAAELHNVTTDLEKVCRQLHDPSVGLSDISI TLFSAFKPMLAAIADIEHIEKDMKHQSFYIETKLDGERMQMHKDGDVYKYFSRNGYNYTD QFGASPTEGSLTPFIHNAFKADIQICILDGEMMAYNPNTQTFMQKGTKFDIKRMVEDSDL QTCYCVFDVLMVNNKKLGHETLRKRYEILSSIFTPIPGRIEIVQKTQAHTKNEVIDALNE AIDKREEGIMVKQPLSIYKPDKRGEGWLKIKPEYVSGLMDELDILIVGGYWGKGSRGGMM SHFLCAVAEKPPPGEKPSVFHTLSRVGSGCTMKELYDLGLKLAKYWKPFHRKAPPSSILC GTEKPEVYIEPCNSVIVQIKAAEIVPSDMYKTGCTLRFPRIEKIRDDKEWHECMTLDDLE QLRGKASGKLASKHLYIGGDDEPQEKKRKAAPKMKKVIGIIEHLKAPNLTNVNKISNIFE DVEFCVMSGTDSQPKPDLENRIAEFGGYIVQNPGPDTYCVIAGSENIRVKNIILSNKHDV VKPAWLLECFKTKSFVPWQPRFMIHMCPSTKEHFAREYDCYGDSYFIDTDLNQLKEVFSG IKNSNEQTPEEMASLIADLEYRYSWDCSPLSMFRRHTVYLDSYAVINDLSTKNEGTRLAI KALELRFHGAKVVSCLAEGVSHVIIGEDHSRVADFKAFRRTFKRKFKILKESWVTDSIDK CELQEENQYLI NT seq 2736 nt NT seq  +upstreamnt  +downstreamnt atggctgcctcacaaacttcacaaactgttgcatctcacgttccttttgcagatttgtgt tcaactttagaacgaatacagaaaagtaaaggacgtgcagaaaaaatcagacacttcagg gaatttttagattcttggagaaaatttcatgatgctcttcataagaaccacaaagatgtc acagactctttttatccagcaatgagactaattcttcctcagctagaaagagagagaatg gcctatggaattaaagaaactatgcttgctaagctttatattgagttgcttaatttacct agagatggaaaagatgccctcaaacttttaaactacagaacacccactggaactcatgga gatgctggagactttgcaatgattgcatattttgtgttgaagccaagatgtttacagaaa ggaagtttaaccatacagcaagtaaacgaccttttagactcaattgccagcaataattct gctaaaagaaaagacctaataaaaaagagccttcttcaacttataactcagagttcagca cttgagcaaaagtggcttatacggatgatcataaaggatttaaagcttggtgttagtcag caaactatcttttctgtttttcataatgatgctgctgagttgcataatgtcactacagat ctggaaaaagtctgtaggcaactgcatgatccttctgtaggactcagtgatatttctatc actttattttctgcatttaaaccaatgctagctgctattgcagatattgagcacattgag aaggatatgaaacatcagagtttctacatagaaaccaagctagatggtgaacgtatgcaa atgcacaaagatggagatgtatataaatacttctctcgaaatggatataactacactgat cagtttggtgcttctcctactgaaggttctcttaccccattcattcataatgcattcaaa gcagatatacaaatctgtattcttgatggtgagatgatggcctataatcctaatacacaa actttcatgcaaaagggaactaagtttgatattaaaagaatggtagaggattctgatctg caaacttgttattgtgtttttgatgtattgatggttaataataaaaagctagggcatgag actctgagaaagaggtatgagattcttagtagtatttttacaccaattccaggtagaata gaaatagtgcagaaaacacaagctcatactaagaatgaagtaattgatgcattgaatgaa gcaatagataaaagagaagagggaattatggtaaaacaacctctatccatctacaagcca gacaaaagaggtgaagggtggttaaaaattaaaccagagtatgtcagtggactaatggat gaattggacattttaattgttggaggatattggggtaaaggatcacggggtggaatgatg tctcattttctgtgtgcagtagcagagaagccccctcctggtgagaagccatctgtgttt catactctctctcgtgttgggtctggctgcaccatgaaagaactgtatgatctgggtttg aaattggccaagtattggaagccttttcatagaaaagctccaccaagcagcattttatgt ggaacagagaagccagaagtatacattgaaccttgtaattctgtcattgttcagattaaa gcagcagagatcgtacccagtgatatgtataaaactggctgcaccttgcgttttccacga attgaaaagataagagatgacaaggagtggcatgagtgcatgaccctggacgacctagaa caacttagggggaaggcatctggtaagctcgcatctaaacacctttatataggtggtgat gatgaaccacaagaaaaaaagcggaaagctgccccaaagatgaagaaagttattggaatt attgagcacttaaaagcacctaaccttactaacgttaacaaaatttctaatatatttgaa gatgtagagttttgtgttatgagtggaacagatagccagccaaagcctgacctggagaac agaattgcagaatttggtggttatatagtacaaaatccaggcccagacacgtactgtgta attgcagggtctgagaacatcagagtgaaaaacataattttgtcaaataaacatgatgtt gtcaagcctgcatggcttttagaatgttttaagaccaaaagctttgtaccatggcagcct cgctttatgattcatatgtgcccatcaaccaaagaacattttgcccgtgaatatgattgc tatggtgatagttatttcattgatacagacttgaaccaactgaaggaagtattctcagga attaaaaattctaacgagcagactcctgaagaaatggcttctctgattgctgatttagaa tatcggtattcctgggattgctctcctctcagtatgtttcgacgccacaccgtttatttg gactcgtatgctgttattaatgacctgagtaccaaaaatgaggggacaaggttagctatt aaagccttggagcttcggtttcatggagcaaaagtagtttcttgtttagctgagggagtg tctcatgtaataattggggaagatcatagtcgtgttgcagattttaaagcttttagaaga acttttaagagaaagtttaaaatcctaaaagaaagttgggtaactgattcaatagacaag tgtgaattacaagaagaaaaccagtatttgatttaa

Homo sapiens (human): 7518 Help Entry 7518              CDS       T01001                                  Symbol XRCC4, SSMED, hXRCC4 Name (RefSeq) X-ray repair cross complementing 4   KO K10886   DNA-repair protein XRCC4 Organism hsa  Homo sapiens (human) Pathway hsa03450   Non-homologous end-joining Network nt06506  Double-strand break repair   Element N01445   Non-homologous end-joining N01467   V(D)J recombination Disease H02578   Short stature, microcephaly, and endocrine dysfunction Brite KEGG Orthology (KO) [BR:hsa00001]  09120 Genetic Information Processing   09124 Replication and repair    03450 Non-homologous end-joining     7518 (XRCC4)  09180 Brite Hierarchies   09182 Protein families: genetic information processing    03400 DNA repair and recombination proteins [BR:hsa03400]     7518 (XRCC4) DNA repair and recombination proteins [BR:hsa03400]  Eukaryotic type   DSBR (double strand breaks repair)    NHEJ (non-homologous end-joining)     DNA Ligase 4 complex      7518 (XRCC4) BRITE hierarchy SSDB OrthologParalogGene clusterGFIT Motif Pfam:  XRCC4_CC XRCC4_C XRCC4 XLF Motif Other DBs NCBI-GeneID:  7518 NCBI-ProteinID:  NP_001304941 OMIM:  194363 HGNC:  12831 Ensembl:  ENSG00000152422 UniProt:  Q13426 Q7Z763 Structure PDBPDBj LinkDB All DBs Position 5:83077547..83374473 Genome browser AA seq 336 aa AA seqDB search MERKISRIHLVSEPSITHFLQVSWEKTLESGFVITLTDGHSAWTGTVSESEISQEADDMA MEKGKYVGELRKALLSGAGPADVYTFNFSKESCYFFFEKNLKDVSFRLGSFNLEKVENPA EVIRELICYCLDTIAENQAKNEHLQKENERLLRDWNDVQGRFEKCVSAKEALETDLYKRF ILVLNEKKTKIRSLHNKLLNAAQEREKDIKQEGETAICSEMTADRDPVYDESTDEESENQ TDLSGLASAAVSKDDSIISSLDVTDIAPSRKRRQRMQRNLGTEPKMAPQENQLQEKENSR PDSSLPETSKKEHISAENMSLETLRNSSPEDLFDEI NT seq 1011 nt NT seq  +upstreamnt  +downstreamnt atggagagaaaaataagcagaatccaccttgtttctgaacccagtataactcattttcta caagtatcttgggagaaaacactggaatctggttttgttattacacttactgatggtcat tcagcatggactgggacagtttctgaatcagagatttcccaagaagctgatgacatggca atggaaaaagggaaatatgttggtgaactgagaaaagcattgttgtcaggagcaggacca gctgatgtatacacgtttaatttttctaaagagtcttgttatttcttctttgagaaaaac ctgaaagatgtctcattcagacttggttccttcaacctagagaaagttgaaaacccagct gaagtcattagagaacttatttgttattgcttggacaccattgcagaaaatcaagccaaa aatgagcacctgcagaaagaaaatgaaaggcttctgagagattggaatgatgttcaagga cgatttgaaaaatgtgtgagtgctaaggaagctttggagactgatctttataagcggttt attctggtgttgaatgagaagaaaacaaaaatcagaagtttgcataataaattattaaat gcagctcaagaacgagaaaaggacatcaaacaagaaggggaaactgcaatctgttctgaa atgactgctgaccgagatccagtctatgatgagagtactgatgaggaaagtgaaaaccaa actgatctctctgggttggcttcagctgctgtaagtaaagatgattccattatttcaagt cttgatgtcactgatattgcaccaagtagaaaaaggagacagcgaatgcaaagaaatctt gggacagaacctaaaatggctcctcaggagaatcagcttcaagaaaaggaaaattctagg cctgattcttcactacctgagacgtctaaaaaggagcacatctcagctgaaaacatgtct ttagaaactctgagaaacagcagcccagaagacctctttgatgagatttaa

Homo sapiens (human): 79840 Help Entry 79840             CDS       T01001                                  Symbol NHEJ1, IMD124, MCOPCB13, XLF Name (RefSeq) non-homologous end joining factor 1   KO K10980   non-homologous end-joining factor 1 Organism hsa  Homo sapiens (human) Pathway hsa03450   Non-homologous end-joining Network nt06506  Double-strand break repair   Element N01445   Non-homologous end-joining N01467   V(D)J recombination Disease H00924   Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation H01027   Microphthalmia Brite KEGG Orthology (KO) [BR:hsa00001]  09120 Genetic Information Processing   09124 Replication and repair    03450 Non-homologous end-joining     79840 (NHEJ1)  09180 Brite Hierarchies   09182 Protein families: genetic information processing    03400 DNA repair and recombination proteins [BR:hsa03400]     79840 (NHEJ1) DNA repair and recombination proteins [BR:hsa03400]  Eukaryotic type   DSBR (double strand breaks repair)    NHEJ (non-homologous end-joining)     DNA Ligase 4 complex      79840 (NHEJ1) BRITE hierarchy SSDB OrthologParalogGene clusterGFIT Motif Pfam:  XLF XLF_CC XRCC4 Motif Other DBs NCBI-GeneID:  79840 NCBI-ProteinID:  NP_079058 OMIM:  611290 HGNC:  25737 Ensembl:  ENSG00000187736 UniProt:  Q9H9Q4 Structure PDBPDBj LinkDB All DBs Position 2:complement(219069357..219160815) Genome browser AA seq 299 aa AA seqDB search MEELEQGLLMQPWAWLQLAENSLLAKVFITKQGYALLVSDLQQVWHEQVDTSVVSQRAKE LNKRLTAPPAAFLCHLDNLLRPLLKDAAHPSEATFSCDCVADALILRVRSELSGLPFYWN FHCMLASPSLVSQHLIRPLMGMSLALQCQVRELATLLHMKDLEIQDYQESGATLIRDRLK TEPFEENSFLEQFMIEKLPEACSIGDGKPFVMNLQDLYMAVTTQEVQVGQKHQGAGDPHT SNSASLQGIDSQCVNQPEQLVSSAPTLSAPEKESTGTSGPLQRPQLSKVKRKKPRGLFS NT seq 900 nt NT seq  +upstreamnt  +downstreamnt atggaagaactggagcaaggcctgttgatgcagccatgggcgtggctacagcttgcagag aactccctcttggccaaggtttttatcaccaagcagggctatgccttgttggtttcagat cttcaacaggtgtggcatgaacaggtggacactagtgtggtcagccagcgagccaaggag ctgaacaagcggctcactgctcctcctgcagctttcctctgtcatttggataatctcctt cgcccattgttgaaggacgctgctcaccctagcgaagctaccttctcctgtgattgtgtg gcagatgcactgattctacgggtgcgaagtgagctctctggcctccccttctattggaat ttccactgcatgctagctagtccttccctggtctcccaacatttgattcgtcctctgatg ggcatgagtctggcattacagtgccaagtgagggagctagcaacgttacttcatatgaaa gacctagagatccaagactaccaggagagtggggctacgctgattcgagatcgattgaag acagaaccatttgaagaaaattccttcttggaacaatttatgatagagaaactgccagag gcatgcagcattggtgatggaaagccctttgtcatgaatctgcaggatctgtatatggca gtcaccacacaagaggtccaagtgggacagaagcatcaaggcgctggagatcctcatacc tcaaacagtgcttccctgcaaggaatcgatagccaatgtgtaaaccagccagaacaactg gtctcctcagccccaaccctctcagcacctgagaaagagtccacgggtacttcaggccct ctgcagagacctcagctgtcaaaggtcaagaggaagaagccaaggggtctcttcagttaa

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