GenTIGS

Progesterone immunomodulatory binding factor 1 (PIBF1) Associated conditions: 1. Joubert syndrome 2. Familial hypercholesterolemia

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_001349655.2	NP_001336584.1	NC_000013.11	(72782132..73016460)	Reference GRCh38.p14 Primary Assembly	-
2	REVIEWED	NM_006346.4	NP_006337.2	NC_000013.11	(72782132..73016460)	Reference GRCh38.p14 Primary Assembly	-
3	REVIEWED	NR_146205.2	-	NC_000013.11	(72782132..73016460)	Reference GRCh38.p14 Primary Assembly	-
4	REVIEWED	NR_146206.2	-	NC_000013.11	(72782132..73016460)	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 194 reference articles

Variant Information Progesterone immunomodulatory binding factor 1 (PIBF1) Mutation Visualization Dashboard: Pathogenic variant distribution chart

IndiGenomes variants: Exploring and mapping pathogenic variants in gene Progesterone immunomodulatory binding factor 1 (PIBF1)

ClinVar variants:Revealing mutagenic patterns

GO Term of Progesterone immunomodulatory binding factor 1 (PIBF1)

SNo.	Reported in speceis	Evidence	Qualifier	GO term	Category	Pubmed Link
1	Homo sapiens	IEA	involved_in	immune system process	Process	-
2	Homo sapiens	IDA	enables	interleukin-4 receptor binding	Function	16393965
3	Homo sapiens	IPI	enables	protein binding	Function	17500595 26297806 26638075 35709258
4	Homo sapiens	IEA	located_in	extracellular region	Component	-
5	Homo sapiens	IDA	located_in	extracellular space	Component	14634107
6	Homo sapiens	IDA	located_in	nucleus	Component	14634107
7	Homo sapiens	IEA	located_in	nucleus	Component	-
8	Homo sapiens	IEA	located_in	cytoplasm	Component	-
9	Homo sapiens	IDA	located_in	centrosome	Component	21399614
10	Homo sapiens	IEA	located_in	centrosome	Component	-
11	Homo sapiens	IBA	is_active_in	microtubule organizing center	Component	-
12	Homo sapiens	IMP	involved_in	mitotic metaphase chromosome alignment	Process	21224392
13	Homo sapiens	IDA	involved_in	negative regulation of prostaglandin biosynthetic process	Process	3863495
14	Homo sapiens	IDA	involved_in	negative regulation of interleukin-12 production	Process	14634107
15	Homo sapiens	IDA	involved_in	positive regulation of interleukin-10 production	Process	14634107
16	Homo sapiens	IDA	involved_in	negative regulation of natural killer cell activation	Process	12516630
17	Homo sapiens	IDA	located_in	centriolar satellite	Component	21224392
18	Homo sapiens	IEA	located_in	centriolar satellite	Component	-
19	Homo sapiens	IDA	involved_in	positive regulation of tyrosine phosphorylation of STAT protein	Process	16393965
20	Homo sapiens	IDA	involved_in	negative regulation of tyrosine phosphorylation of STAT protein	Process	16393965
21	Homo sapiens	IDA	involved_in	activation of Janus kinase activity	Process	16393965
22	Homo sapiens	IBA	involved_in	cilium assembly	Process	-
23	Homo sapiens	IMP	involved_in	cilium assembly	Process	26167768
24	Homo sapiens	IMP	involved_in	protein localization to centrosome	Process	23110211
25	Homo sapiens	IMP	involved_in	mitotic spindle assembly	Process	21224392
26	Homo sapiens	IMP	involved_in	non-motile cilium assembly	Process	23110211