POPDC3
entrez
64208
canonical
uniprot
Q9HBV1
canonical
ensembl
ENSG00000132429
resolver
ensp
ENSP00000254765
resolver
ensp
ENSP00000552252
resolver
ensp
ENSP00000552253
resolver
ensp
ENSP00000552254
resolver
ensp
ENSP00000635891
resolver
ensp
ENSP00000635892
resolver
ensp
ENSP00000635893
resolver
ensp
ENSP00000635894
resolver
ensp
ENSP00000635895
resolver
ensp
ENSP00000635896
resolver
ensp
ENSP00000635897
resolver
ensp
ENSP00000766190
resolver
enst
ENST00000254765
resolver
enst
ENST00000882193
resolver
enst
ENST00000882194
resolver
enst
ENST00000882195
resolver
enst
ENST00000965832
resolver
enst
ENST00000965833
resolver
enst
ENST00000965834
resolver
enst
ENST00000965835
resolver
enst
ENST00000965836
resolver
enst
ENST00000965837
resolver
enst
ENST00000965838
resolver
genesymbol
POPDC3
resolver
genesymbol_syn
POP3
resolver
hgnc
HGNC:17649
resolver
uniprot
B2RA98
resolver
uniprot
Q5T3Y8
resolver
uniprot
Q8TBW6
resolver
uniprot_entry
POPD3_HUMAN
resolver
uniprot_sec
B2RA98
resolver
uniprot_sec
Q5T3Y8
resolver
uniprot_sec
Q8TBW6
resolver
amino_acid_sequence
MERNSSLWKNLIDEHPVCTTWKQEAEGAIYHLASILFVVGFMGGSGFFGLLYVFSLLGLGFLCSAVWAWVDVCAADIFSWNFVLFVICFMQFVHIAYQVRSITFAREFQVLYSSLFQPLGISLPVFRTIALSSEVVTLEKEHCYAMQGKTSIDKLSLLVSGRIRVTVDGEFLHYIFPLQFLDSPEWDSLRPTEEGIFQVTLTAETDCRYVSWRRKKLYLLFAQHRYISRLFSVLIGSDIADKLYALNDRVYIGKRYHYDIRLPNFYQMSTPEIRRSPLTQHFQNSRRYCDK
uniprot
proteins
disease_involvement
DISEASE: Muscular dystrophy, limb-girdle, autosomal recessive 26 (LGMDR26) [MIM:618848]: An autosomal recessive muscular disorder characterized by adult onset of weakness and atrophy of proximal limb muscles, elevated serum creatine kinase levels, and dystrophic findings on muscle biopsy. There is no cardiac or respiratory involvement. {ECO:0000269|PubMed:31610034}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: May play a role in the maintenance of heart function mediated, at least in part, through cAMP-binding. May play a role in the regulation of KCNK2/TREK-1-mediated current amplitude (PubMed:31610034). {ECO:0000250|UniProtKB:Q9ES81, ECO:0000269|PubMed:10882522, ECO:0000269|PubMed:31610034}.
uniprot
proteins
mass_dalton
33870
uniprot
proteins
protein_family
Popeye family
uniprot
proteins
pubmed
10882522
uniprot
proteins
pubmed
14574404
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
31610034
uniprot
proteins
sequence_length
291
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
uniprot
proteins
transmembrane_region
TRANSMEM 27..44; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 48..70; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 77..99; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins