Gene table of RTEL1 : regulator of telomere elongation helicase 1

Gene-disease associations table

Disease ID	Disease name	Source of annotation with RTEL1	OMIM link	Number of associated genes	genes
PS614742	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED	ClinVar, OMIM, HUMSAVAR	link to OMIM	4	TERT, PARN, RTEL1, TERC
PS127550	DYSKERATOSIS CONGENITA	ClinVar, OMIM, HUMSAVAR	link to OMIM	10	NOP10, WRAP53, TERT, ACD, TINF2, PARN, RTEL1, NHP2, DKC1, TERC
178500	PULMONARY FIBROSIS, IDIOPATHIC	ClinVar	link to OMIM	6	MUC5B, TERT, SFTPA1, RTEL1, SFTPA2, TERC

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Annotation of the gene RTEL1

Associated genes in ENSEMBL

ENSG00000258366

Associated proteins - SwissProt Accession ID

Q9NZ71

Associated PDB IDs

Cytogenetic Band

20q13.33

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

Associated KEGG pathways

Associated REACTOME pathways

REACTOME pathway	REACTOME ID	REACTOME IC
Cytosolic iron-sulfur cluster assembly	R-HSA-2564830	9.28
Metabolism	R-HSA-1430728	2.34

Associated GO terms for Molecular function

GO term	GO ID	GO IC
ATPase activity	GO:0016887	3.65
ATP-dependent helicase activity	GO:0008026	5.12
purine ribonucleoside triphosphate binding	GO:0035639	2.22
binding	GO:0005488	0.18
nucleic acid binding	GO:0003676	1.44
DNA binding	GO:0003677	1.92
DNA helicase activity	GO:0003678	5.73
nucleotide binding	GO:0000166	1.96
heterocyclic compound binding	GO:1901363	1.06
nucleoside phosphate binding	GO:1901265	1.96
nucleoside binding	GO:0001882	2.21
cation binding	GO:0043169	1.4
metal cluster binding	GO:0051540	5.55
pyrophosphatase activity	GO:0016462	3.04
ion binding	GO:0043167	1.36
purine nucleoside binding	GO:0001883	2.22
ribonucleoside binding	GO:0032549	2.22
purine nucleotide binding	GO:0017076	2.19
metal ion binding	GO:0046872	1.41
ATP binding	GO:0005524	2.43
hydrolase activity	GO:0016787	1.9
ATP-dependent DNA helicase activity	GO:0004003	6.13
nucleoside-triphosphatase activity	GO:0017111	3.09
helicase activity	GO:0004386	4.69
small molecule binding	GO:0036094	1.89
catalytic activity	GO:0003824	1.05
DNA-dependent ATPase activity	GO:0008094	5.31
hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides	GO:0016818	3.03
4 iron, 4 sulfur cluster binding	GO:0051539	6.0
adenyl nucleotide binding	GO:0030554	2.4
carbohydrate derivative binding	GO:0097367	2.03
organic cyclic compound binding	GO:0097159	1.05
iron-sulfur cluster binding	GO:0051536	5.55
ATPase activity, coupled	GO:0042623	3.97
hydrolase activity, acting on acid anhydrides	GO:0016817	3.03
purine NTP-dependent helicase activity	GO:0070035	5.12
adenyl ribonucleotide binding	GO:0032559	2.41
protein binding	GO:0005515	0.46
purine ribonucleotide binding	GO:0032555	2.2
purine ribonucleoside binding	GO:0032550	2.22
ribonucleotide binding	GO:0032553	2.19