GenTIGS

RANBP2-type and C3HC4-type zinc finger containing 1 (RBCK1) Associated conditions: 1. Glycogen storage disease, type IV

mRNA Information: Transcript Variants and Protein Isoforms

SNo.	Status	mRNA accession	Protein accession	Genomic DNA accession (Chromosome)	mRNA location on genomic DNA	Assembly	UniProtkb ID
1	REVIEWED	NM_001323956.2	NP_001310885.1	NC_000020.11	(408298..432138)	Reference GRCh38.p14 Primary Assembly	Q9BYM8
2	REVIEWED	NM_001323958.2	NP_001310887.1	NC_000020.11	(408298..432138)	Reference GRCh38.p14 Primary Assembly	Q9BYM8
3	REVIEWED	NM_001323960.2	NP_001310889.1	NC_000020.11	(408298..432138)	Reference GRCh38.p14 Primary Assembly	Q9BYM8
4	REVIEWED	NM_001410770.1	NP_001397699.1	NC_000020.11	(408298..432138)	Reference GRCh38.p14 Primary Assembly	Q9BYM8
5	REVIEWED	NM_006462.6	NP_006453.1	NC_000020.11	(408298..432138)	Reference GRCh38.p14 Primary Assembly	Q9BYM8
6	REVIEWED	NM_031229.4	NP_112506.2	NC_000020.11	(408298..432138)	Reference GRCh38.p14 Primary Assembly	Q9BYM8
7	REVIEWED	NR_136659.2	-	NC_000020.11	(408298..432138)	Reference GRCh38.p14 Primary Assembly	Q9BYM8

Transcript variants arise from alternative splicing during gene expression, producing multiple mRNA transcripts from a single gene, each encoding distinct protein isoforms.

PubMed Links for Transcript Variants (Isoforms)

Link 1166 reference articles

Variant Information RANBP2-type and C3HC4-type zinc finger containing 1 (RBCK1) Mutation Visualization Dashboard: Pathogenic variant distribution chart

ClinVar variants:Revealing mutagenic patterns

GO Term of RANBP2-type and C3HC4-type zinc finger containing 1 (RBCK1)

SNo.	Reported in speceis	Evidence	Qualifier	GO term	Category	Pubmed Link
1	Homo sapiens	IDA	involved_in	protein polyubiquitination	Process	12629548 17006537
2	Homo sapiens	IEA	involved_in	protein polyubiquitination	Process	-
3	Homo sapiens	IDA	enables	transcription coactivator activity	Function	20103625
4	Homo sapiens	IBA	enables	ubiquitin-protein transferase activity	Function	-
5	Homo sapiens	IDA	enables	ubiquitin-protein transferase activity	Function	12629548 17006537
6	Homo sapiens	IEA	enables	ubiquitin-protein transferase activity	Function	-
7	Homo sapiens	IPI	enables	protein binding	Function	16083853 16643902 17006537 17449468 18711448 19549727 20098747 21455180 21455181 21709223 21811235 21903422 22430200 22791023 23032186 23088713 24141947 25260751 25416956 26871637 28514442 29892012 29997244 30561431 32296183 32814053 33961781 36179048
8	Homo sapiens	TAS	located_in	cytosol	Component	-
9	Homo sapiens	IEA	enables	zinc ion binding	Function	-
10	Homo sapiens	IEA	involved_in	positive regulation of macromolecule metabolic process	Process	-
11	Homo sapiens	IEA	involved_in	protein ubiquitination	Process	-
12	Homo sapiens	IEA	enables	transferase activity	Function	-
13	Homo sapiens	IMP	involved_in	defense response to bacterium	Process	28481331
14	Homo sapiens	IPI	enables	identical protein binding	Function	25416956 30561431
15	Homo sapiens	IEA	involved_in	positive regulation of apoptotic process	Process	-
16	Homo sapiens	IBA	involved_in	positive regulation of canonical NF-kappaB signal transduction	Process	-
17	Homo sapiens	IDA	involved_in	positive regulation of canonical NF-kappaB signal transduction	Process	19136968 21455173
18	Homo sapiens	IEA	involved_in	positive regulation of canonical NF-kappaB signal transduction	Process	-
19	Homo sapiens	IBA	enables	ubiquitin binding	Function	-
20	Homo sapiens	IDA	enables	ubiquitin binding	Function	21455181
21	Homo sapiens	IBA	involved_in	proteasome-mediated ubiquitin-dependent protein catabolic process	Process	-
22	Homo sapiens	IMP	involved_in	proteasome-mediated ubiquitin-dependent protein catabolic process	Process	17449468
23	Homo sapiens	IEA	involved_in	positive regulation of DNA-templated transcription	Process	-
24	Homo sapiens	IEA	enables	metal ion binding	Function	-
25	Homo sapiens	IDA	involved_in	T cell receptor signaling pathway	Process	20005846
26	Homo sapiens	IEA	enables	ubiquitin protein ligase activity	Function	-
27	Homo sapiens	IBA	part_of	LUBAC complex	Component	-
28	Homo sapiens	IDA	part_of	LUBAC complex	Component	17006537 21455173 21455180 21455181 24726323 27523608 28481331
29	Homo sapiens	IEA	part_of	LUBAC complex	Component	-
30	Homo sapiens	IEA	involved_in	regulation of primary metabolic process	Process	-
31	Homo sapiens	IBA	involved_in	protein linear polyubiquitination	Process	-
32	Homo sapiens	IDA	involved_in	protein linear polyubiquitination	Process	21455173 21455180 21455181 23453807
33	Homo sapiens	IDA	enables	protein sequestering activity	Function	16083853
34	Homo sapiens	IEA	involved_in	positive regulation of non-canonical NF-kappaB signal transduction	Process	-
35	Homo sapiens	IEA	enables	ubiquitin ligase activator activity	Function	-