GenTIGS

Molybdenum cofactor synthesis 1 (MOCS1) Associated conditions: 1. Sulfite oxidase deficiency

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_001075098.4	NP_001068566.1	NC_000006.12	(39904169..39934461, complement)	Reference GRCh38.p14 Primary Assembly	-
2	REVIEWED	NM_001358529.2	NP_001345458.1	NC_000006.12	(39904169..39934461, complement)	Reference GRCh38.p14 Primary Assembly	-
3	REVIEWED	NM_001358530.2	NP_001345459.1	NC_000006.12	(39904169..39934461, complement)	Reference GRCh38.p14 Primary Assembly	-
4	REVIEWED	NM_001358531.2	NP_001345460.1	NC_000006.12	(39904169..39934461, complement)	Reference GRCh38.p14 Primary Assembly	-
5	REVIEWED	NM_001358533.2	NP_001345462.1	NC_000006.12	(39904169..39934461, complement)	Reference GRCh38.p14 Primary Assembly	-
6	REVIEWED	NM_001358534.2	NP_001345463.1	NC_000006.12	(39904169..39934461, complement)	Reference GRCh38.p14 Primary Assembly	-
7	REVIEWED	NM_005943.6	NP_005934.2	NC_000006.12	(39904169..39934461, complement)	Reference GRCh38.p14 Primary Assembly	-
8	REVIEWED	NR_033233.2	-	NC_000006.12	(39904169..39934461, complement)	Reference GRCh38.p14 Primary Assembly	-

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 145 reference articles

Variant Information Molybdenum cofactor synthesis 1 (MOCS1) Mutation Visualization Dashboard: Pathogenic variant distribution chart

IndiGenomes variants: Exploring and mapping pathogenic variants in gene Molybdenum cofactor synthesis 1 (MOCS1)

ClinVar variants:Revealing mutagenic patterns

GO Term of Molybdenum cofactor synthesis 1 (MOCS1)

SNo.	Reported in speceis	Evidence	Qualifier	GO term	Category	Pubmed Link
1	Homo sapiens	IEA	enables	nucleotide binding	Function	-
2	Homo sapiens	IEA	enables	catalytic activity	Function	-
3	Homo sapiens	IEA	enables	GTP binding	Function	-
4	Homo sapiens	IEA	located_in	cytoplasm	Component	-
5	Homo sapiens	HTP	located_in	mitochondrion	Component	34800366
6	Homo sapiens	IDA	is_active_in	mitochondrial matrix	Component	31996372
7	Homo sapiens	IEA	located_in	mitochondrial matrix	Component	-
8	Homo sapiens	IDA	located_in	cytosol	Component	-
9	Homo sapiens	IEA	located_in	cytosol	Component	-
10	Homo sapiens	TAS	located_in	cytosol	Component	-
11	Homo sapiens	IBA	involved_in	Mo-molybdopterin cofactor biosynthetic process	Process	-
12	Homo sapiens	IDA	involved_in	Mo-molybdopterin cofactor biosynthetic process	Process	15180982
13	Homo sapiens	IEA	involved_in	Mo-molybdopterin cofactor biosynthetic process	Process	-
14	Homo sapiens	IMP	involved_in	Mo-molybdopterin cofactor biosynthetic process	Process	9731530 9921896 16021469
15	Homo sapiens	TAS	involved_in	Mo-molybdopterin cofactor biosynthetic process	Process	12754701
16	Homo sapiens	IEA	enables	lyase activity	Function	-
17	Homo sapiens	IEA	involved_in	molybdopterin cofactor biosynthetic process	Process	-
18	Homo sapiens	IEA	enables	metal ion binding	Function	-
19	Homo sapiens	IEA	enables	iron-sulfur cluster binding	Function	-
20	Homo sapiens	IDA	enables	4 iron, 4 sulfur cluster binding	Function	15180982
21	Homo sapiens	IEA	enables	4 iron, 4 sulfur cluster binding	Function	-
22	Homo sapiens	IBA	enables	GTP 3',8'-cyclase activity	Function	-
23	Homo sapiens	IEA	enables	GTP 3',8'-cyclase activity	Function	-
24	Homo sapiens	IMP	enables	GTP 3',8'-cyclase activity	Function	15180982
25	Homo sapiens	IBA	enables	cyclic pyranopterin monophosphate synthase activity	Function	-
26	Homo sapiens	IEA	enables	cyclic pyranopterin monophosphate synthase activity	Function	-
27	Homo sapiens	IMP	enables	cyclic pyranopterin monophosphate synthase activity	Function	15180982
28	Homo sapiens	IEA	enables	S-adenosyl-L-methionine binding	Function	-