7WU8 | pdb_00007wu8

Crystal structure of Harmonin-homology domain 2 (HHD2) of human RTEL1

External Resource: Annotation

Domain Annotation: CATH
Gene Ontology: Gene Product Annotation
InterPro: Protein Family Classification
Pharos: Disease Associations

Domain Annotation: CATH CATH Database Homepage

Chain	Domain	Class	Architecture	Topology	Homology	Provenance Source (Version)
A	1.20.1160.20	Mainly Alpha	Up-down Bundle	Paired amphipathic helix 2 (pah2 repeat)		CATH (utative)
B	1.20.1160.20	Mainly Alpha	Up-down Bundle	Paired amphipathic helix 2 (pah2 repeat)		CATH (utative)
C	1.20.1160.20	Mainly Alpha	Up-down Bundle	Paired amphipathic helix 2 (pah2 repeat)		CATH (utative)
D	1.20.1160.20	Mainly Alpha	Up-down Bundle	Paired amphipathic helix 2 (pah2 repeat)		CATH (utative)
E	1.20.1160.20	Mainly Alpha	Up-down Bundle	Paired amphipathic helix 2 (pah2 repeat)		CATH (utative)
G	1.20.1160.20	Mainly Alpha	Up-down Bundle	Paired amphipathic helix 2 (pah2 repeat)		CATH (utative)

Gene Ontology: Gene Product Annotation Gene Ontology Database Homepage

Chains	Polymer	Molecular Function	Biological Process	Cellular Component
A, B, C, D, E A, B, C, D, E, F, G	Regulator of telomere elongation helicase 1	ATP-dependent activity, acting on DNA catalytic activity, acting on DNA DNA translocase activity catalytic activity, acting on a nucleic acid chromatin extrusion motor activity catalytic activity ATP-dependent activity ATP-dependent H3-H4 histone complex chaperone activity catalytic activity, acting on a protein histone chaperone activity ATP-dependent chromatin remodeler activity H3-H4 histone complex chaperone activity protein carrier chaperone ATP-dependent histone chaperone activity ATP-dependent activity, acting on DNA catalytic activity, acting on DNA DNA translocase activity catalytic activity, acting on a nucleic acid chromatin extrusion motor activity catalytic activity ATP-dependent activity ATP-dependent H3-H4 histone complex chaperone activity catalytic activity, acting on a protein histone chaperone activity ATP-dependent chromatin remodeler activity H3-H4 histone complex chaperone activity protein carrier chaperone ATP-dependent histone chaperone activity molecular carrier activity cohesin loader activity DNA clamp loader activity ATP-dependent H2AZ histone chaperone activity nucleic acid conformation isomerase activity forked DNA-dependent helicase activity isomerase activity DNA helicase activity helicase activity macromolecular conformation isomerase activity iron-sulfur cluster binding binding 4 iron, 4 sulfur cluster binding metal cluster binding small molecule binding adenyl ribonucleotide binding nucleotide binding purine ribonucleotide binding purine ribonucleoside triphosphate binding nucleoside phosphate binding ion binding purine nucleotide binding anion binding adenyl nucleotide binding ATP binding heterocyclic compound binding carbohydrate derivative binding ribonucleotide binding DNA binding nucleic acid binding single-stranded DNA helicase activity 3'-5' DNA helicase activity single-stranded 3'-5' DNA helicase activity four-way junction helicase activity pyrophosphatase activity ATP hydrolysis activity ribonucleoside triphosphate phosphatase activity hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides hydrolase activity hydrolase activity, acting on acid anhydrides protein binding DNA polymerase binding enzyme binding cation binding metal ion binding double-stranded DNA helicase activity	cellular response to stimulus regulation of DNA recombination regulation of cellular process regulation of double-strand break repair response to stimulus regulation of cellular response to stress regulation of primary metabolic process nucleobase-containing compound metabolic process cellular response to stress response to stress regulation of response to stress recombinational repair regulation of nucleobase-containing compound metabolic process double-strand break repair via homologous recombination cellular response to stimulus regulation of DNA recombination regulation of cellular process regulation of double-strand break repair response to stimulus regulation of cellular response to stress regulation of primary metabolic process nucleobase-containing compound metabolic process cellular response to stress response to stress regulation of response to stress recombinational repair regulation of nucleobase-containing compound metabolic process double-strand break repair via homologous recombination DNA repair double-strand break repair regulation of biological process DNA recombination biological regulation primary metabolic process DNA metabolic process regulation of macromolecule metabolic process nucleic acid metabolic process regulation of DNA repair regulation of double-strand break repair via homologous recombination DNA damage response regulation of response to stimulus metabolic process cellular process macromolecule metabolic process regulation of metabolic process regulation of DNA metabolic process telomere maintenance in response to DNA damage telomere organization chromosome organization telomere maintenance cellular component organization organelle organization cellular component organization or biogenesis DNA strand displacement DNA-templated DNA replication DNA-templated DNA replication maintenance of fidelity DNA replication replication fork processing positive regulation of organelle organization regulation of telomere maintenance regulation of cellular component organization positive regulation of cellular component organization positive regulation of biological process telomere maintenance via telomere lengthening positive regulation of metabolic process positive regulation of telomere maintenance via telomere lengthening positive regulation of macromolecule metabolic process positive regulation of cellular process positive regulation of telomere maintenance positive regulation of nucleobase-containing compound metabolic process regulation of chromosome organization regulation of telomere maintenance via telomere lengthening regulation of organelle organization positive regulation of chromosome organization positive regulation of DNA metabolic process negative regulation of telomere maintenance negative regulation of biological process negative regulation of chromosome organization negative regulation of telomere maintenance in response to DNA damage negative regulation of nucleobase-containing compound metabolic process negative regulation of cellular component organization negative regulation of metabolic process negative regulation of cellular process negative regulation of macromolecule metabolic process negative regulation of response to stimulus regulation of telomere maintenance in response to DNA damage negative regulation of organelle organization negative regulation of DNA metabolic process telomeric loop disassembly regulation of telomeric loop disassembly positive regulation of telomeric loop disassembly negative regulation of DNA recombination regulation of t-circle formation cellular component biogenesis cellular component assembly formation of extrachromosomal circular DNA regulation of cellular component biogenesis negative regulation of t-circle formation telomere maintenance via telomere trimming t-circle formation nuclear DNA replication cell cycle DNA replication mitotic cell cycle telomere maintenance via semi-conservative replication mitotic telomere maintenance via semi-conservative replication cell cycle cell cycle process mitotic cell cycle process positive regulation of telomere capping telomere capping regulation of telomere capping	membrane-bounded organelle intracellular anatomical structure nucleus membrane-enclosed lumen intracellular membrane-bounded organelle intracellular organelle lumen nuclear speck nuclear body intracellular organelle cellular anatomical structure nucleoplasm organelle lumen organelle nuclear lumen membrane-bounded organelle intracellular anatomical structure nucleus membrane-enclosed lumen intracellular membrane-bounded organelle intracellular organelle lumen nuclear speck nuclear body intracellular organelle cellular anatomical structure nucleoplasm organelle lumen organelle nuclear lumen nuclear membrane membrane endomembrane system organelle envelope nuclear envelope organelle membrane membraneless organelle intracellular membraneless organelle chromosome chromosome, telomeric region chromosomal region

InterPro: Protein Family Classification InterPro Database Homepage

Chains	Accession	Name	Type
A, B, C, D, E A, B, C, D, E, F, G	IPR049909	Regulator of telomere elongation helicase 1, harmonin homology domain	Domain
A, B, C, D, E A, B, C, D, E, F, G	IPR045028	Helicase superfamily 1/2, DinG/Rad3-like	Family
A, B, C, D, E A, B, C, D, E, F, G	IPR027417	P-loop containing nucleoside triphosphate hydrolase	Homologous Superfamily
A, B, C, D, E A, B, C, D, E, F, G	IPR030845	Regulator of telomere elongation helicase 1	Family
A, B, C, D, E A, B, C, D, E, F, G	IPR006554	Helicase-like, DEXD box c2 type	Domain
A, B, C, D, E A, B, C, D, E, F, G	IPR006555	ATP-dependent helicase, C-terminal	Domain
A, B, C, D, E A, B, C, D, E, F, G	IPR010614	RAD3-like helicase, DEAD	Domain
A, B, C, D, E A, B, C, D, E, F, G	IPR014013	Helicase superfamily 1/2, ATP-binding domain, DinG/Rad3-type	Domain
A, B, C, D, E A, B, C, D, E, F, G	IPR013020	ATP-dependent helicase Rad3/Chl1-like	Family

Pharos: Disease Associations Pharos Homepage Annotation

Chains	Drug Target	Associated Disease
A, B, C, D, E A, B, C, D, E, F, G	Pharos: Q9NZ71	dyskeratosis congenita idiopathic pulmonary fibrosis pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 dyskeratosis congenita, autosomal recessive 5 malignant glioma mixed glioma ulcerative colitis inflammatory bowel disease Lung Neoplasms marginal zone lymphoma acute interstitial pneumonia brain glioma congenital anemia idiopathic interstitial pneumonia intellectual disability dyskeratosis congenita idiopathic pulmonary fibrosis pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 dyskeratosis congenita, autosomal recessive 5 malignant glioma mixed glioma ulcerative colitis inflammatory bowel disease Lung Neoplasms marginal zone lymphoma acute interstitial pneumonia brain glioma congenital anemia idiopathic interstitial pneumonia intellectual disability allergic rhinitis colorectal adenoma Crohn disease glioblastoma hematopoietic and lymphoid system neoplasm lung benign neoplasm prostate carcinoma atopic eczema colorectal cancer cutaneous melanoma glioma Hoyeraal-Hreidarsson syndrome

RCSB PDB Core Operations are funded by the U.S. National Science Foundation (DBI-2321666), the US Department of Energy (DE-SC0019749), and the National Cancer Institute, National Institute of Allergy and Infectious Diseases, and National Institute of General Medical Sciences of the National Institutes of Health under grant R01GM157729.