PLS3
entrez
5358
canonical
uniprot
P13797
canonical
ensembl
ENSG00000102024
resolver
ensp
ENSP00000289290
resolver
ensp
ENSP00000348163
resolver
ensp
ENSP00000445339
resolver
ensp
ENSP00000546650
resolver
ensp
ENSP00000546651
resolver
ensp
ENSP00000602532
resolver
genesymbol
PLS3
resolver
hgnc
HGNC:9091
resolver
uniprot
A8K579
resolver
uniprot
B1AQ09
resolver
uniprot
B4DGB4
resolver
uniprot
B4DPW9
resolver
uniprot
B7Z6M1
resolver
uniprot
Q86YI6
resolver
uniprot_entry
B4DPW9_HUMAN
resolver
uniprot_entry
PLST_HUMAN
resolver
uniprot_sec
A8K579
resolver
uniprot_sec
B1AQ09
resolver
uniprot_sec
B4DGB4
resolver
uniprot_sec
B7Z6M1
resolver
uniprot_sec
Q86YI6
resolver
amino_acid_sequence
MDEMATTQISKDELDELKEAFAKVDLNSNGFICDYELHELFKEANMPLPGYKVREIIQKLMLDGDRNKDGKISFDEFVYIFQEVKSSDIAKTFRKAINRKEGICALGGTSELSSEGTQHSYSEEEKYAFVNWINKALENDPDCRHVIPMNPNTDDLFKAVGDGIVLCKMINLSVPDTIDERAINKKKLTPFIIQENLNLALNSASAIGCHVVNIGAEDLRAGKPHLVLGLLWQIIKIGLFADIELSRNEALAALLRDGETLEELMKLSPEELLLRWANFHLENSGWQKINNFSADIKDSKAYFHLLNQIAPKGQKEGEPRIDINMSGFNETDDLKRAESMLQQADKLGCRQFVTPADVVSGNPKLNLAFVANLFNKYPALTKPENQDIDWTLLEGETREERTFRNWMNSLGVNPHVNHLYADLQDALVILQLYERIKVPVDWSKVNKPPYPKLGANMKKLENCNYAVELGKHPAKFSLVGIGGQDLNDGNQTLTLALVWQLMRRYTLNVLEDLGDGQKANDDIIVNWVNRTLSEAGKSTSIQSFKDKTISSSLAVVDLIDAIQPGCINYDLVKSGNLTEDDKHNNAKYAVSMARRIGARVYALPEDLVEVKPKMVMTVFACLMGRGMKRV
uniprot
proteins
disease_involvement
DISEASE: Osteoporosis (OSTEOP) [MIM:166710]: A systemic skeletal disorder characterized by decreased bone mass and deterioration of bone microarchitecture without alteration in the composition of bone. The result is fragile bones and an increased risk of fractures, even after minimal trauma. Osteoporosis is a chronic condition of multifactorial etiology and is usually clinically silent until a fracture occurs. {ECO:0000269|PubMed:24088043}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry. It has been proposed that loss-of-function variants may be associated with X-linked osteoporosis, while missense variants affecting the actin-binding domains might have a gain-of-function effect and may cause X-linked diaphragmatic hernia. {ECO:0000303|PubMed:37751738}.; DISEASE: Note=Variants in PLS3 have been suggested to be associated with a variety of abnormalities of the skeletal system, ranging from non-syndromic childhood-onset osteoporosis to osteogenesis imperfecta. {ECO:0000269|PubMed:24616189, ECO:0000269|PubMed:28748388, ECO:0000269|PubMed:33166085, ECO:0000269|PubMed:34946798}.; DISEASE: Diaphragmatic hernia 5, X-linked (DIH5) [MIM:306950]: A form of congenital diaphragmatic hernia, a posterolateral defect of the diaphragm, generally located on the left side, that permits the herniation of abdominal viscera into the thorax. The lungs are hypoplastic and have abnormal vessels that cause respiratory insufficiency and persistent pulmonary hypertension with high mortality. About one third of cases have cardiovascular malformations and lesser proportions have skeletal, neural, genitourinary, gastrointestinal or other defects. DIH5 is usually transmitted in an X-linked recessive pattern with males being severely affected. Early death is frequent. Note=The disease is caused by variants affecting the gene represented in this entry. It has been proposed that loss-of-function variants may be associated with X-linked osteoporosis, while missense variants affecting the actin-binding domains might have a gain-of-function effect and may cause X-linked diaphragmatic hernia. {ECO:0000303|PubMed:37751738}.
uniprot
proteins
function
FUNCTION: Actin-bundling protein.
uniprot
proteins
mass_dalton
70811
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15772651
uniprot
proteins
pubmed
16959974
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
2378651
uniprot
proteins
pubmed
24088043
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
24616189
uniprot
proteins
pubmed
28748388
uniprot
proteins
pubmed
3211125
uniprot
proteins
pubmed
33166085
uniprot
proteins
pubmed
34946798
uniprot
proteins
pubmed
37751738
uniprot
proteins
pubmed
8428952
uniprot
proteins
pubmed
9302997
uniprot
proteins
sequence_length
630
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm.
uniprot
proteins