Entity Details

Primary name DNLI4_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionP49917
EntryNameDNLI4_HUMAN
FullNameDNA ligase 4
TaxID9606
Evidenceevidence at protein level
Length911
SequenceStatuscomplete
DateCreated1996-10-01
DateModified2021-06-02

Ontological Relatives

GenesLIG4

GO terms

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GOName
GO:0000012 single strand break repair
GO:0000781 chromosome, telomeric region
GO:0000793 condensed chromosome
GO:0001701 in utero embryonic development
GO:0002328 pro-B cell differentiation
GO:0003677 DNA binding
GO:0003909 DNA ligase activity
GO:0003910 DNA ligase (ATP) activity
GO:0005524 ATP binding
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005958 DNA-dependent protein kinase-DNA ligase 4 complex
GO:0006260 DNA replication
GO:0006266 DNA ligation
GO:0006297 nucleotide-excision repair, DNA gap filling
GO:0006302 double-strand break repair
GO:0006303 double-strand break repair via nonhomologous end joining
GO:0007049 cell cycle
GO:0007417 central nervous system development
GO:0008022 protein C-terminus binding
GO:0008283 cell population proliferation
GO:0010165 response to X-ray
GO:0010332 response to gamma radiation
GO:0016874 ligase activity
GO:0032807 DNA ligase IV complex
GO:0033077 T cell differentiation in thymus
GO:0033151 V(D)J recombination
GO:0033152 immunoglobulin V(D)J recombination
GO:0033153 T cell receptor V(D)J recombination
GO:0035019 somatic stem cell population maintenance
GO:0036464 cytoplasmic ribonucleoprotein granule
GO:0043524 negative regulation of neuron apoptotic process
GO:0045190 isotype switching
GO:0046872 metal ion binding
GO:0048146 positive regulation of fibroblast proliferation
GO:0050769 positive regulation of neurogenesis
GO:0051102 DNA ligation involved in DNA recombination
GO:0051103 DNA ligation involved in DNA repair
GO:0051276 chromosome organization
GO:0051301 cell division
GO:0051402 neuron apoptotic process
GO:0070419 nonhomologous end joining complex
GO:0071285 cellular response to lithium ion
GO:0071479 cellular response to ionizing radiation
GO:0071897 DNA biosynthetic process
GO:0075713 establishment of integrated proviral latency
GO:0097680 double-strand break repair via classical nonhomologous end joining
GO:2001252 positive regulation of chromosome organization

Subcellular Location

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Subcellular Location
Nucleus

Domains

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DomainNameCategoryType
IPR000977 DNA ligase, ATP-dependentFamilyFamily
IPR001357 BRCT domainDomainDomain
IPR012308 DNA ligase, ATP-dependent, N-terminalDomainDomain
IPR012309 DNA ligase, ATP-dependent, C-terminalDomainDomain
IPR012310 DNA ligase, ATP-dependent, centralDomainDomain
IPR012340 Nucleic acid-binding, OB-foldFamilyHomologous superfamily
IPR016059 DNA ligase, ATP-dependent, conserved siteSiteConserved site
IPR021536 DNA ligase IV domainDomainDomain
IPR029710 DNA ligase 4FamilyFamily
IPR036420 BRCT domain superfamilyFamilyHomologous superfamily
IPR036599 DNA ligase, ATP-dependent, N-terminal domain superfamilyFamilyHomologous superfamily
IPR044125 DNA Ligase 4, adenylation domainDomainDomain

Diseases

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Disease IDSourceNameDescription
602450 OMIMSevere combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-positive with sensitivity to ionizing radiation (RSSCID)A form of severe combined immunodeficiency, a genetically and clinically heterogeneous group of rare congenital disorders characterized by impairment of both humoral and cell-mediated immunity, leukopenia, and low or absent antibody levels. Patients present in infancy with recurrent, persistent infections by opportunistic organisms. The common characteristic of all types of SCID is absence of T-cell-mediated cellular immunity due to a defect in T-cell development. Individuals affected by RS-SCID show defects in the DNA repair machinery necessary for coding joint formation and the completion of V(D)J recombination. A subset of cells from such patients show increased radiosensitivity. The disease is caused by variants affecting the gene represented in this entry.
606593 OMIMLIG4 syndrome (LIG4S)Characterized by immunodeficiency and developmental and growth delay. Patients display unusual facial features, microcephaly, growth and/or developmental delay, pancytopenia, and various skin abnormalities. The disease is caused by variants affecting the gene represented in this entry.

Interactions

110 interactions

InteractorPartnerSourcesPublicationsLink
DNLI4_HUMANXRCC4_HUMANBioGRID, DIP, HPRD, IntAct, UniProt10757784 10854421 11702069 11809878 15194694 15520013 17567543 21070942 22529269 22658747 23219551 25416956 25910212 26186194 28514442 30496552 31548606 32296183 9259561 9705934 details
DNLI4_HUMANAPLF_HUMANBioGRID, HPRD, IntAct, MINT17396150 23178593 26186194 28514442 details
DNLI4_HUMANGRAK_HUMANBioGRID, IntAct21988832 details
DNLI4_HUMANEFTS_HUMANBioGRID, IntAct21988832 details
DNLI4_HUMANPHF10_HUMANBioGRID, IntAct21988832 details
DNLI4_HUMANZSC18_HUMANBioGRID, IntAct21988832 details
DNLI4_HUMANDCR1C_HUMANIntAct22529269 23219551 details
DNLI4_HUMANPRKDC_HUMANBioGRID, HPRD, IntAct10608806 15194694 22529269 details
DNLI4_HUMANATR_HUMANBioGRID10608806 details
DNLI4_HUMANATM_HUMANBioGRID10608806 details
DNLI4_HUMANSMC2_HUMANBioGRID, HPRD12589063 details
DNLI4_HUMANTOP1_HUMANBioGRID12549820 details
DNLI4_HUMANACTG_HUMANBioGRID22990118 details
DNLI4_HUMANBTG1_HUMANBioGRID22990118 details
DNLI4_HUMANCLUS_HUMANBioGRID22990118 details
DNLI4_HUMANCO1A2_HUMANBioGRID22990118 details
DNLI4_HUMANCBP_HUMANBioGRID22990118 details
DNLI4_HUMANCATK_HUMANBioGRID22990118 details
DNLI4_HUMANDGUOK_HUMANBioGRID22990118 details
DNLI4_HUMANEF1A1_HUMANBioGRID22990118 details
DNLI4_HUMANIF4A1_HUMANBioGRID22990118 details
DNLI4_HUMANERF1_HUMANBioGRID22990118 details
DNLI4_HUMANG3P_HUMANBioGRID22990118 details
DNLI4_HUMANHXK1_HUMANBioGRID22990118 details
DNLI4_HUMANHMGN1_HUMANBioGRID22990118 details
DNLI4_HUMANROA1_HUMANBioGRID22990118 details
DNLI4_HUMANROA2_HUMANBioGRID22990118 details
DNLI4_HUMANIPP_HUMANBioGRID22990118 details
DNLI4_HUMANLDHC_HUMANBioGRID22990118 details
DNLI4_HUMANMCM4_HUMANBioGRID22990118 details
DNLI4_HUMANCOX1_HUMANBioGRID22990118 details
DNLI4_HUMANCOX2_HUMANBioGRID22990118 details
DNLI4_HUMANCOX3_HUMANBioGRID22990118 details
DNLI4_HUMANNU1M_HUMANBioGRID22990118 details
DNLI4_HUMANNU4M_HUMANBioGRID22990118 details
DNLI4_HUMANNU5M_HUMANBioGRID22990118 details
DNLI4_HUMANNDUBA_HUMANBioGRID22990118 details
DNLI4_HUMANNEUR1_HUMANBioGRID22990118 details
DNLI4_HUMANPA2G4_HUMANBioGRID22990118 details
DNLI4_HUMANPEX10_HUMANBioGRID22990118 details
DNLI4_HUMANMP2K2_HUMANBioGRID22990118 details
DNLI4_HUMANPSA6_HUMANBioGRID22990118 details
DNLI4_HUMANRL11_HUMANBioGRID22990118 details
DNLI4_HUMANSRSF2_HUMANBioGRID22990118 details
DNLI4_HUMANTLE4_HUMANBioGRID22990118 details
DNLI4_HUMANTP53B_HUMANBioGRID22990118 details
DNLI4_HUMANTCTP_HUMANBioGRID22990118 details
DNLI4_HUMANUBB_HUMANBioGRID22990118 details
DNLI4_HUMANUB2L3_HUMANBioGRID22990118 details
DNLI4_HUMANSYWC_HUMANBioGRID22990118 details
DNLI4_HUMANALMS1_HUMANBioGRID22990118 details
DNLI4_HUMANGPAN1_HUMANBioGRID22990118 details
DNLI4_HUMANTHOC5_HUMANBioGRID22990118 details
DNLI4_HUMANEIF3I_HUMANBioGRID22990118 details
DNLI4_HUMANIF4G3_HUMANBioGRID22990118 details
DNLI4_HUMANSNX3_HUMANBioGRID22990118 details
DNLI4_HUMANGGH_HUMANBioGRID22990118 details
DNLI4_HUMANCPNE1_HUMANBioGRID22990118 details
DNLI4_HUMANU119A_HUMANBioGRID22990118 details
DNLI4_HUMANVA0D1_HUMANBioGRID22990118 details
DNLI4_HUMANGRHPR_HUMANBioGRID22990118 details
DNLI4_HUMANDPP3_HUMANBioGRID22990118 details
DNLI4_HUMANRBM5_HUMANBioGRID22990118 details
DNLI4_HUMANAPC10_HUMANBioGRID22990118 details
DNLI4_HUMANMCRS1_HUMANBioGRID22990118 details
DNLI4_HUMANCAP1_HUMANBioGRID22990118 details
DNLI4_HUMANNPC2_HUMANBioGRID22990118 details
DNLI4_HUMANRUVB2_HUMANBioGRID22990118 details
DNLI4_HUMANERD21_HUMANBioGRID22990118 details
DNLI4_HUMANKIF3A_HUMANBioGRID22990118 details
DNLI4_HUMANZWINT_HUMANBioGRID22990118 details
DNLI4_HUMANPALLD_HUMANBioGRID22990118 details
DNLI4_HUMANB9D1_HUMANBioGRID22990118 details
DNLI4_HUMANTPPC3_HUMANBioGRID22990118 details
DNLI4_HUMANE2AK1_HUMANBioGRID22990118 details
DNLI4_HUMANOSTM1_HUMANBioGRID22990118 details
DNLI4_HUMANSYCP3_HUMANBioGRID22990118 details
DNLI4_HUMANRT18C_HUMANBioGRID22990118 details
DNLI4_HUMANAMPL_HUMANBioGRID22990118 details
DNLI4_HUMANNDUAD_HUMANBioGRID22990118 details
DNLI4_HUMANAFTIN_HUMANBioGRID22990118 details
DNLI4_HUMANWBP1L_HUMANBioGRID22990118 details
DNLI4_HUMANOXR1_HUMANBioGRID22990118 details
DNLI4_HUMANOGFD1_HUMANBioGRID22990118 details
DNLI4_HUMANDD19A_HUMANBioGRID22990118 details
DNLI4_HUMANUFSP2_HUMANBioGRID22990118 details
DNLI4_HUMANF214A_HUMANBioGRID22990118 details
DNLI4_HUMANRHBD2_HUMANBioGRID22990118 details
DNLI4_HUMANSEM4G_HUMANBioGRID22990118 details
DNLI4_HUMANSWAHC_HUMANBioGRID22990118 details
DNLI4_HUMANVKOR1_HUMANBioGRID22990118 details
DNLI4_HUMANBBOF1_HUMANBioGRID22990118 details
DNLI4_HUMANFIP1_HUMANBioGRID22990118 details
DNLI4_HUMANZFN2A_HUMANBioGRID22990118 details
DNLI4_HUMANAROS_HUMANBioGRID22990118 details
DNLI4_HUMANWDR20_HUMANBioGRID22990118 details
DNLI4_HUMANAGAP4_HUMANBioGRID22990118 details
DNLI4_HUMANZN428_HUMANBioGRID22990118 details
DNLI4_HUMANCOMD1_HUMANBioGRID22990118 details
DNLI4_HUMANASPM_HUMANBioGRID22990118 details
DNLI4_HUMANPGP_HUMANBioGRID22990118 details
DNLI4_HUMANNOMO3_HUMANBioGRID22990118 details
DNLI4_HUMANENOA_HUMANBioGRID22990118 details
DNLI4_HUMANPPIA_HUMANBioGRID22990118 details
DNLI4_HUMANNHEJ1_HUMANBioGRID, DIP, HPRD, IntAct, UniProt16439205 17567543 21070942 22658747 31548606 details
DNLI4_HUMANPNKP_HUMANBioGRID, IntAct15385968 17353931 details
DNLI4_HUMANXRCC6_HUMANBioGRID, IntAct10757784 15520013 22990118 26496610 details
DNLI4_HUMANXRCC5_HUMANBioGRID, UniProt10757784 15520013 26774286 31548606 details
DNLI4_HUMANCRBN_HUMANBioGRID24292625 details
DNLI4_HUMANFBXW7_HUMANBioGRID26774286 details