PPP1R15B
entrez
84919
canonical
uniprot
Q5SWA1
canonical
ensembl
ENSG00000158615
resolver
ensp
ENSP00000356156
resolver
ensp
ENSP00000508814
resolver
enst
ENST00000367188
resolver
enst
ENST00000693720
resolver
genesymbol
PPP1R15B
resolver
hgnc
HGNC:14951
resolver
uniprot
A0A8I5KSH1
resolver
uniprot
Q53GQ4
resolver
uniprot
Q658M2
resolver
uniprot
Q6P156
resolver
uniprot
Q96SN1
resolver
uniprot_entry
A0A8I5KSH1_HUMAN
resolver
uniprot_entry
PR15B_HUMAN
resolver
uniprot_sec
Q53GQ4
resolver
uniprot_sec
Q658M2
resolver
uniprot_sec
Q6P156
resolver
uniprot_sec
Q96SN1
resolver
amino_acid_sequence
MEPGTGGSRKRLGPRAGFRFWPPFFPRRSQAGSSKFPTPLGPENSGNPTLLSSAQPETRVSYWTKLLSQLLAPLPGLLQKVLIWSQLFGGMFPTRWLDFAGVYSALRALKGREKPAAPTAQKSLSSLQLDSSDPSVTSPLDWLEEGIHWQYSPPDLKLELKAKGSALDPAAQAFLLEQQLWGVELLPSSLQSRLYSNRELGSSPSGPLNIQRIDNFSVVSYLLNPSYLDCFPRLEVSYQNSDGNSEVVGFQTLTPESSCLREDHCHPQPLSAELIPASWQGCPPLSTEGLPEIHHLRMKRLEFLQQASKGQDLPTPDQDNGYHSLEEEHSLLRMDPKHCRDNPTQFVPAAGDIPGNTQESTEEKIELLTTEVPLALEEESPSEGCPSSEIPMEKEPGEGRISVVDYSYLEGDLPISARPACSNKLIDYILGGASSDLETSSDPEGEDWDEEAEDDGFDSDSSLSDSDLEQDPEGLHLWNSFCSVDPYNPQNFTATIQTAARIVPEEPSDSEKDLSGKSDLENSSQSGSLPETPEHSSGEEDDWESSADEAESLKLWNSFCNSDDPYNPLNFKAPFQTSGENEKGCRDSKTPSESIVAISECHTLLSCKVQLLGSQESECPDSVQRDVLSGGRHTHVKRKKVTFLEEVTEYYISGDEDRKGPWEEFARDGCRFQKRIQETEDAIGYCLTFEHRERMFNRLQGTCFKGLNVLKQC
uniprot
proteins
disease_involvement
DISEASE: Microcephaly, short stature, and impaired glucose metabolism 2 (MSSGM2) [MIM:616817]: An autosomal recessive disease characterized by microcephaly, intellectual disability, short stature, and disturbed glucose metabolism. {ECO:0000269|PubMed:26159176, ECO:0000269|PubMed:26307080}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Note=Defects in PPP1R15B has been found in a patient with isolated coloboma, a defect of the eye characterized by the absence of ocular structures due to abnormal morphogenesis of the optic cup and stalk, and the fusion of the fetal fissure (optic fissure). Isolated colobomas may be associated with an abnormally small eye (microphthalmia) or small cornea. {ECO:0000269|PubMed:28493397}.
uniprot
proteins
function
FUNCTION: Maintains low levels of EIF2S1 phosphorylation in unstressed cells by promoting its dephosphorylation by PP1. {ECO:0000269|PubMed:26159176, ECO:0000269|PubMed:26307080}.
uniprot
proteins
mass_dalton
79125
uniprot
proteins
protein_family
PPP1R15 family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15705855
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
26159176
uniprot
proteins
pubmed
26307080
uniprot
proteins
pubmed
28493397
uniprot
proteins
sequence_length
713
uniprot
proteins