Gene Gene information from NCBI Gene database. Download as csv Download as pdf
Entrez ID	91298
Gene name	RNA 5'-phosphate and 3'-OH ligase 1
Gene symbol	RLIG1
Synonyms (NCBI Gene)	C12orf29Rnl
Chromosome	12
Chromosome location	12q21.32

101 Show/Hide all (101)

miRTarBase ID	miRNA	Experiments	Reference
MIRT019878	hsa-miR-375	Microarray	20215506
MIRT036436	hsa-miR-1226-3p	CLASH	23622248
MIRT067357	hsa-miR-181a-5p	MicroarrayqRT-PCR	22815788
MIRT646603	hsa-miR-8063	HITS-CLIP	23824327
MIRT646602	hsa-miR-4719	HITS-CLIP	23824327
MIRT646601	hsa-miR-15b-3p	HITS-CLIP	23824327
MIRT646603	hsa-miR-8063	HITS-CLIP	23824327
MIRT646602	hsa-miR-4719	HITS-CLIP	23824327
MIRT646601	hsa-miR-15b-3p	HITS-CLIP	23824327
MIRT830818	hsa-miR-1279	CLIP-seq
MIRT830819	hsa-miR-1323	CLIP-seq
MIRT830820	hsa-miR-154	CLIP-seq
MIRT830821	hsa-miR-155	CLIP-seq
MIRT830822	hsa-miR-181a	CLIP-seq
MIRT830823	hsa-miR-181b	CLIP-seq
MIRT830824	hsa-miR-181c	CLIP-seq
MIRT830825	hsa-miR-181d	CLIP-seq
MIRT830826	hsa-miR-2052	CLIP-seq
MIRT830827	hsa-miR-2053	CLIP-seq
MIRT830828	hsa-miR-2682	CLIP-seq
MIRT830829	hsa-miR-3119	CLIP-seq
MIRT830830	hsa-miR-329	CLIP-seq
MIRT830831	hsa-miR-337-3p	CLIP-seq
MIRT830832	hsa-miR-34a	CLIP-seq
MIRT830833	hsa-miR-34c-5p	CLIP-seq
MIRT830834	hsa-miR-362-3p	CLIP-seq
MIRT830835	hsa-miR-3646	CLIP-seq
MIRT830836	hsa-miR-3670	CLIP-seq
MIRT830837	hsa-miR-3671	CLIP-seq
MIRT830838	hsa-miR-3685	CLIP-seq
MIRT830839	hsa-miR-384	CLIP-seq
MIRT830840	hsa-miR-3924	CLIP-seq
MIRT830841	hsa-miR-3941	CLIP-seq
MIRT830842	hsa-miR-409-3p	CLIP-seq
MIRT830843	hsa-miR-4262	CLIP-seq
MIRT830844	hsa-miR-4299	CLIP-seq
MIRT830845	hsa-miR-4307	CLIP-seq
MIRT830846	hsa-miR-4456	CLIP-seq
MIRT830847	hsa-miR-449a	CLIP-seq
MIRT830848	hsa-miR-449b	CLIP-seq
MIRT830849	hsa-miR-449c	CLIP-seq
MIRT830850	hsa-miR-4537	CLIP-seq
MIRT830851	hsa-miR-4635	CLIP-seq
MIRT830852	hsa-miR-4637	CLIP-seq
MIRT830853	hsa-miR-4645-3p	CLIP-seq
MIRT830854	hsa-miR-4684-5p	CLIP-seq
MIRT830855	hsa-miR-4699-3p	CLIP-seq
MIRT830856	hsa-miR-4709-3p	CLIP-seq
MIRT830857	hsa-miR-4768-5p	CLIP-seq
MIRT830858	hsa-miR-4789-3p	CLIP-seq
MIRT830859	hsa-miR-548o	CLIP-seq
MIRT830860	hsa-miR-548q	CLIP-seq
MIRT830861	hsa-miR-567	CLIP-seq
MIRT830862	hsa-miR-587	CLIP-seq
MIRT830863	hsa-miR-603	CLIP-seq
MIRT830864	hsa-miR-873	CLIP-seq
MIRT830865	hsa-miR-885-5p	CLIP-seq
MIRT830866	hsa-miR-891b	CLIP-seq
MIRT830867	hsa-miR-940	CLIP-seq
MIRT2184338	hsa-miR-3123	CLIP-seq
MIRT2184339	hsa-miR-3145-3p	CLIP-seq
MIRT2184340	hsa-miR-3529	CLIP-seq
MIRT2184341	hsa-miR-3606	CLIP-seq
MIRT2184342	hsa-miR-379	CLIP-seq
MIRT2184343	hsa-miR-4282	CLIP-seq
MIRT2184344	hsa-miR-4451	CLIP-seq
MIRT2184345	hsa-miR-4650-3p	CLIP-seq
MIRT830856	hsa-miR-4709-3p	CLIP-seq
MIRT2184346	hsa-miR-935	CLIP-seq
MIRT830820	hsa-miR-154	CLIP-seq
MIRT830826	hsa-miR-2052	CLIP-seq
MIRT830827	hsa-miR-2053	CLIP-seq
MIRT830830	hsa-miR-329	CLIP-seq
MIRT830831	hsa-miR-337-3p	CLIP-seq
MIRT830834	hsa-miR-362-3p	CLIP-seq
MIRT830838	hsa-miR-3685	CLIP-seq
MIRT830839	hsa-miR-384	CLIP-seq
MIRT830840	hsa-miR-3924	CLIP-seq
MIRT830841	hsa-miR-3941	CLIP-seq
MIRT830842	hsa-miR-409-3p	CLIP-seq
MIRT830845	hsa-miR-4307	CLIP-seq
MIRT830850	hsa-miR-4537	CLIP-seq
MIRT2487918	hsa-miR-4729	CLIP-seq
MIRT830858	hsa-miR-4789-3p	CLIP-seq
MIRT2487919	hsa-miR-548p	CLIP-seq
MIRT830861	hsa-miR-567	CLIP-seq
MIRT2487920	hsa-miR-579	CLIP-seq
MIRT830862	hsa-miR-587	CLIP-seq
MIRT830863	hsa-miR-603	CLIP-seq
MIRT830865	hsa-miR-885-5p	CLIP-seq
MIRT830866	hsa-miR-891b	CLIP-seq
MIRT830831	hsa-miR-337-3p	CLIP-seq
MIRT830838	hsa-miR-3685	CLIP-seq
MIRT830839	hsa-miR-384	CLIP-seq
MIRT830840	hsa-miR-3924	CLIP-seq
MIRT830842	hsa-miR-409-3p	CLIP-seq
MIRT2487918	hsa-miR-4729	CLIP-seq
MIRT2487920	hsa-miR-579	CLIP-seq
MIRT830862	hsa-miR-587	CLIP-seq
MIRT830865	hsa-miR-885-5p	CLIP-seq
MIRT830866	hsa-miR-891b	CLIP-seq

9 Show/Hide all (9)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0000302	Process	Response to reactive oxygen species	IEA
GO:0000302	Process	Response to reactive oxygen species	IMP	36792600
GO:0002244	Process	Hematopoietic progenitor cell differentiation	IEA
GO:0003972	Function	RNA ligase (ATP) activity	IDA	36792600
GO:0003972	Function	RNA ligase (ATP) activity	IEA
GO:0005524	Function	ATP binding	IEA
GO:0016874	Function	Ligase activity	IEA
GO:0042245	Process	RNA repair	IEA

MIM	HGNC	e!Ensembl
HGNC	N/A	HGNC

Q8N999

Protein name

RNA ligase 1 (EC 6.5.1.3) (RNA ligase) (Rnl)

Protein function

Functions as an RNA ligase, in vitro (PubMed:36792600). The ligation reaction entails three nucleotidyl transfer steps (PubMed:36792600). In the first step, the RNA ligase reacts with ATP in the absence of nucleic acid to form a covalent ligase-

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF17720	DUF5565	1 → 324	Family of unknown function (DUF5565)	Family

Sequence

MKRLGSVQRKMPCVFVTEVKEEPSSKREHQPFKVLATETVSHKALDADIYSAIPTEKVDG
TCCYVTTYKDQPYLWARLDRKPNKQAEKRFKNFLHSKENPKEFFWNVEEDFKPAPECWIP
AKETEQINGNPVPDENGHIPGWVPVEKNNKQYCWHSSVVNYEFEIALVLKHHPDDSGLLE
ISAVPLSDLLEQTLELIGTNINGNPYGLGSKKHPLHLLIPHGAFQIRNLPSLKHNDLVSW
FEDCKEGKIEGIVWHCSDGCLIKVHRHHLGLCWPIPDTYMNSRPVIINMNLNKCDSAFDI
KCLFNHFLKIDNQKFVRLKDIIFDV

Sequence length

325

Interactions

View interactions

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal. Show/Hide Unknown Diseases (13)
BARDET-BIEDL SYNDROME	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BARDET-BIEDL SYNDROME 14	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL APLASIA OF THE VERMIS	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLOBAL DEVELOPMENTAL DELAY	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
JOUBERT SYNDROME 5	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEBER CONGENITAL AMAUROSIS	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEBER CONGENITAL AMAUROSIS 10	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MECKEL SYNDROME, TYPE 4	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MECKEL-GRUBER SYNDROME	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROGNATHISM	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEPHRONOPHTHISIS	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ROD-CONE DYSTROPHY	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SENIOR-LOKEN SYNDROME 6	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
NPHP3	7	["Leber congenital amaurosis","Bardet-biedl syndrome","Aplasia of the vermis","Joubert syndrome","Nephronophthisis","Meckel-gruber syndrome","Senior-loken syndrome"]	[]	6	["Disgenet (Leber congenital amaurosis)","Disgenet (Bardet-biedl syndrome)","Disgenet (Aplasia of the vermis)","Disgenet (Joubert syndrome)","Disgenet (Meckel-gruber syndrome)","Disgenet (Nephronophthisis)"]
NPHP1	6	["Leber congenital amaurosis","Bardet-biedl syndrome","Aplasia of the vermis","Joubert syndrome","Nephronophthisis","Senior-loken syndrome"]	[]	6	["Disgenet (Leber congenital amaurosis)","Disgenet (Bardet-biedl syndrome)","Disgenet (Aplasia of the vermis)","Disgenet (Joubert syndrome)","Disgenet (Nephronophthisis)","Disgenet (Senior-loken syndrome)"]
IQCB1	4	["Leber congenital amaurosis","Bardet-biedl syndrome","Nephronophthisis","Senior-loken syndrome"]	[]	4	["Disgenet (Leber congenital amaurosis)","Disgenet (Bardet-biedl syndrome)","Disgenet (Nephronophthisis)","Disgenet (Senior-loken syndrome)"]
CEP290	9	["Leber congenital amaurosis","Bardet-biedl syndrome","Aplasia of the vermis","Joubert syndrome","Nephronophthisis","Meckel-gruber syndrome","Micrognathism","Rod-cone dystrophy","Senior-loken syndrome"]	[]	9	["Disgenet (Leber congenital amaurosis)","Disgenet (Bardet-biedl syndrome)","Disgenet (Aplasia of the vermis)","Disgenet (Joubert syndrome)","Disgenet (Meckel-gruber syndrome)","Disgenet (Micrognathism)","Disgenet (Nephronophthisis)","Disgenet (Rod-cone dystrophy)","Disgenet (Senior-loken syndrome)"]
NPHP4	5	["Leber congenital amaurosis","Bardet-biedl syndrome","Joubert syndrome","Nephronophthisis","Senior-loken syndrome"]	[]	5	["Disgenet (Leber congenital amaurosis)","Disgenet (Bardet-biedl syndrome)","Disgenet (Joubert syndrome)","Disgenet (Nephronophthisis)","Disgenet (Senior-loken syndrome)"]

RLIG1 (RNA 5'-phosphate and 3'-OH ligase 1)

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