PIBF1
entrez
10464
canonical
uniprot
Q8WXW3
canonical
ensembl
ENSG00000083535
resolver
ensp
ENSP00000317144
resolver
ensp
ENSP00000603406
resolver
ensp
ENSP00000720453
resolver
ensp
ENSP00000720454
resolver
ensp
ENSP00000783466
resolver
ensp
ENSP00000783467
resolver
ensp
ENSP00000794742
resolver
ensp
ENSP00000794743
resolver
genesymbol
PIBF1
resolver
genesymbol_syn
C13orf24
resolver
genesymbol_syn
PIBF
resolver
hgnc
HGNC:23352
resolver
uniprot
O95664
resolver
uniprot
Q6U9V2
resolver
uniprot
Q6UG50
resolver
uniprot
Q86V07
resolver
uniprot
Q96SF4
resolver
uniprot_entry
PIBF1_HUMAN
resolver
uniprot_sec
O95664
resolver
uniprot_sec
Q6U9V2
resolver
uniprot_sec
Q6UG50
resolver
uniprot_sec
Q86V07
resolver
uniprot_sec
Q96SF4
resolver
amino_acid_sequence
MSRKISKESKKVNISSSLESEDISLETTVPTDDISSSEEREGKVRITRQLIERKELLHNIQLLKIELSQKTMMIDNLKVDYLTKIEELEEKLNDALHQKQLLTLRLDNQLAFQQKDASKYQELMKQEMETILLRQKQLEETNLQLREKAGDVRRNLRDFELTEEQYIKLKAFPEDQLSIPEYVSVRFYELVNPLRKEICELQVKKNILAEELSTNKNQLKQLTETYEEDRKNYSEVQIRCQRLALELADTKQLIQQGDYRQENYDKVKSERDALEQEVIELRRKHEILEASHMIQTKERSELSKEVVTLEQTVTLLQKDKEYLNRQNMELSVRCAHEEDRLERLQAQLEESKKAREEMYEKYVASRDHYKTEYENKLHDELEQIRLKTNQEIDQLRNASREMYERENRNLREARDNAVAEKERAVMAEKDALEKHDQLLDRYRELQLSTESKVTEFLHQSKLKSFESERVQLLQEETARNLTQCQLECEKYQKKLEVLTKEFYSLQASSEKRITELQAQNSEHQARLDIYEKLEKELDEIIMQTAEIENEDEAERVLFSYGYGANVPTTAKRRLKQSVHLARRVLQLEKQNSLILKDLEHRKDQVTQLSQELDRANSLLNQTQQPYRYLIESVRQRDSKIDSLTESIAQLEKDVSNLNKEKSALLQTKNQMALDLEQLLNHREELAAMKQILVKMHSKHSENSLLLTKTEPKHVTENQKSKTLNVPKEHEDNIFTPKPTLFTKKEAPEWSKKQKMKT
uniprot
proteins
disease_involvement
DISEASE: Note=May be associated with microcephaly. {ECO:0000305|PubMed:26297806}.; DISEASE: Joubert syndrome 33 (JBTS33) [MIM:617767]: A form of Joubert syndrome, a disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy, renal disease, liver fibrosis, and polydactyly. JBTS33 inheritance is autosomal recessive. {ECO:0000269|PubMed:26167768}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Plays a role in ciliogenesis. {ECO:0000269|PubMed:26167768}.; FUNCTION: [Isoform 1]: Pericentriolar protein required to maintain mitotic spindle pole integrity (PubMed:21224392). Required for the centrosomal accumulation of PCM1 and the recruitment of centriolar satellite proteins such as BBS4. Via association with PCM1 may be involved in primary cilia formation (PubMed:23110211). Required for CEP63 centrosomal localization and its interaction with WDR62. Together with CEP63 promotes centriole duplication. Promotes the centrosomal localization of CDK2 (PubMed:26297806). {ECO:0000269|PubMed:21224392, ECO:0000269|PubMed:23110211, ECO:0000269|PubMed:26297806}.; FUNCTION: [Isoform 4]: The secreted form is a mediator of progesterone that by acting on the phospholipase A2 enzyme interferes with arachidonic acid metabolism, induces a Th2 biased immune response, and by controlling decidual natural killer cells (NK) activity exerts an anti-abortive effect (PubMed:12516630, PubMed:14634107, PubMed:3863495). Increases the production of Th2-type cytokines by signaling via the JAK/STAT pathway. Activates STAT6 and inhibits STAT4 phosphorylation. Signaling via a not identified receptor seems to implicate IL4R and a GPI-anchored protein (PubMed:16393965, PubMed:25218441). {ECO:0000269|PubMed:12516630, ECO:0000269|PubMed:14634107, ECO:0000269|PubMed:16393965, ECO:0000269|PubMed:25218441, ECO:0000269|PubMed:3863495, ECO:0000305|PubMed:11407300}.
uniprot
proteins
mass_dalton
89805
uniprot
proteins
pubmed
11407300
uniprot
proteins
pubmed
11935316
uniprot
proteins
pubmed
12516630
uniprot
proteins
pubmed
12733588
uniprot
proteins
pubmed
14634107
uniprot
proteins
pubmed
14654843
uniprot
proteins
pubmed
15057823
uniprot
proteins
pubmed
15269099
uniprot
proteins
pubmed
15305375
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16393965
uniprot
proteins
pubmed
18817979
uniprot
proteins
pubmed
21224392
uniprot
proteins
pubmed
23110211
uniprot
proteins
pubmed
25218441
uniprot
proteins
pubmed
26167768
uniprot
proteins
pubmed
26297806
uniprot
proteins
pubmed
26538025
uniprot
proteins
pubmed
3863495
uniprot
proteins
sequence_length
757
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:14654843}. Cytoplasm {ECO:0000269|PubMed:25218441}. Secreted {ECO:0000269|PubMed:25218441}. Note=In progesterone-treated astrocytoma cells a 57 kDa protein and isoform 1 (90 kDa) have been described, both being located in the intracellular medium and secreted. Respective predominant forms are isoform 1 in the intracellular and the 57 kDa protein in the extracellular medium (PubMed:25218441). {ECO:0000269|PubMed:25218441}.; SUBCELLULAR LOCATION: [Isoform 1]: Nucleus {ECO:0000269|PubMed:14634107, ECO:0000269|PubMed:25218441}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:15305375}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriolar satellite {ECO:0000269|PubMed:21224392, ECO:0000269|PubMed:26297806}. Secreted {ECO:0000269|PubMed:25218441}. Note=Localizes to centriolar satellites throughout the cell cycle. {ECO:0000269|PubMed:26297806}.; SUBCELLULAR LOCATION: [Isoform 4]: Secreted {ECO:0000269|PubMed:14634107, ECO:0000269|PubMed:3863495}. Note=Secreted by progesterone-treated lymphocytes (PubMed:14634107). {ECO:0000269|PubMed:14634107}.
uniprot
proteins