PLIN4
entrez
729359
canonical
uniprot
Q96Q06
canonical
ensembl
ENSG00000167676
resolver
ensp
ENSP00000301286
resolver
ensp
ENSP00000488481
resolver
ensp
ENSP00000571609
resolver
ensp
ENSP00000571610
resolver
ensp
ENSP00000636678
resolver
ensp
ENSP00000636679
resolver
ensp
ENSP00000636681
resolver
ensp
ENSP00000636683
resolver
ensp
ENSP00000636684
resolver
enst
ENST00000301286
resolver
enst
ENST00000633942
resolver
enst
ENST00000901550
resolver
enst
ENST00000901551
resolver
enst
ENST00000966619
resolver
enst
ENST00000966620
resolver
enst
ENST00000966624
resolver
genesymbol
PLIN4
resolver
genesymbol_syn
KIAA1881
resolver
hgnc
HGNC:29393
resolver
uniprot
A0A0J9YXN7
resolver
uniprot
A6NEI2
resolver
uniprot_entry
A0A0J9YXN7_HUMAN
resolver
uniprot_entry
PLIN4_HUMAN
resolver
uniprot_sec
A6NEI2
resolver
amino_acid_sequence
MSAPDEGRRDPPKPKGKTLGSFFGSLPGFSSARNLVANAHSSARARPAADPTGAPAAEAAQPQAQVAAHPEQTAPWTEKELQPSEKMVSGAKDLVCSKMSRAKDAVSSGVASVVDVAKGVVQGGLDTTRSALTGTKEVVSSGVTGAMDMAKGAVQGGLDTSKAVLTGTKDTVSTGLTGAVNVAKGTVQAGVDTTKTVLTGTKDTVTTGVMGAVNLAKGTVQTGVETSKAVLTGTKDAVSTGLTGAVNVARGSIQTGVDTSKTVLTGTKDTVCSGVTGAMNVAKGTIQTGVDTSKTVLTGTKDTVCSGVTGAMNVAKGTIQTGVDTSKTVLTGTKDTVCSGVTGAMNVAKGTIQTGVDTTKTVLTGTKNTVCSGVTGAVNLAKEAIQGGLDTTKSMVMGTKDTMSTGLTGAANVAKGAMQTGLNTTQNIATGTKDTVCSGVTGAMNLARGTIQTGVDTTKIVLTGTKDTVCSGVTGAANVAKGAVQGGLDTTKSVLTGTKDAVSTGLTGAVNVAKGTVQTGVDTTKTVLTGTKDTVCSGVTSAVNVAKGAVQGGLDTTKSVVIGTKDTMSTGLTGAANVAKGAVQTGVDTAKTVLTGTKDTVTTGLVGAVNVAKGTVQTGMDTTKTVLTGTKDTIYSGVTSAVNVAKGAVQTGLKTTQNIATGTKNTFGSGVTSAVNVAKGAAQTGVDTAKTVLTGTKDTVTTGLMGAVNVAKGTVQTSVDTTKTVLTGTKDTVCSGVTGAANVAKGAIQGGLDTTKSVLTGTKDAVSTGLTGAVKLAKGTVQTGMDTTKTVLTGTKDAVCSGVTGAANVAKGAVQMGVDTAKTVLTGTKDTVCSGVTGAANVAKGAVQTGLKTTQNIATGTKNTLGSGVTGAAKVAKGAVQGGLDTTKSVLTGTKDAVSTGLTGAVNLAKGTVQTGVDTSKTVLTGTKDTVCSGVTGAVNVAKGTVQTGVDTAKTVLSGAKDAVTTGVTGAVNVAKGTVQTGVDASKAVLMGTKDTVFSGVTGAMSMAKGAVQGGLDTTKTVLTGTKDAVSAGLMGSGNVATGATHTGLSTFQNWLPSTPATSWGGLTSSRTTDNGGEQTALSPQEAPFSGISTPPDVLSVGPEPAWEAAATTKGLATDVATFTQGAAPGREDTGLLATTHGPEEAPRLAMLQNELEGLGDIFHPMNAEEQAQLAASQPGPKVLSAEQGSYFVRLGDLGPSFRQRAFEHAVSHLQHGQFQARDTLAQLQDCFRLIEKAQQAPEGQPRLDQGSGASAEDAAVQEERDAGVLSRVCGLLRQLHTAYSGLVSSLQGLPAELQQPVGRARHSLCELYGIVASAGSVEELPAERLVQSREGVHQAWQGLEQLLEGLQHNPPLSWLVGPFALPAGGQ
uniprot
proteins
disease_involvement
DISEASE: Myopathy with rimmed ubiquitin-positive autophagic vacuolation, autosomal dominant (MRUPAV) [MIM:601846]: An autosomal dominant, slowly progressive myopathy characterized by skeletal muscle weakness variably affecting the distal or proximal lower limbs. Some patients may also have upper limb involvement or neck muscle weakness. Skeletal muscle biopsy shows distinctive myopathic features including rimmed ubiquitin-positive autophagic vacuolation and abnormal subsarcolemmal protein aggregation. {ECO:0000269|PubMed:32451610, ECO:0000269|PubMed:35499779, ECO:0000269|PubMed:36151849}. Note=The disease is caused by variants affecting the gene represented in this entry. Disease causing variants are heterozygous expansions of a 99-bp repetitive sequence in exon 3. Normal repeat number is 29 to 31, whereas pathogenic repeats range from 39 to 50. A higher number of repeats may be associated with earlier age at disease onset, more severe phenotypes, and faster disease progression. {ECO:0000269|PubMed:32451610, ECO:0000269|PubMed:35499779, ECO:0000269|PubMed:36151849}.
uniprot
proteins
function
FUNCTION: May play a role in triacylglycerol packaging into adipocytes. May function as a coat protein involved in the biogenesis of lipid droplets (By similarity). {ECO:0000250}.
uniprot
proteins
mass_dalton
135892
uniprot
proteins
protein_family
Perilipin family
uniprot
proteins
pubmed
11572484
uniprot
proteins
pubmed
15057824
uniprot
proteins
pubmed
15111493
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
32451610
uniprot
proteins
pubmed
35499779
uniprot
proteins
pubmed
36151849
uniprot
proteins
sequence_length
1371
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250|UniProtKB:O88492}. Cytoplasm {ECO:0000250|UniProtKB:O88492}. Lipid droplet {ECO:0000250|UniProtKB:O88492}. Note=Nascent lipid droplet surface-associated; association with lipid droplets is triacylglycerol synthesis-dependent. {ECO:0000250|UniProtKB:O88492}.
uniprot
proteins