POPDC1
entrez
11149
canonical
uniprot
Q8NE79
canonical
ensembl
ENSG00000112276
resolver
ensp
ENSP00000313172
resolver
ensp
ENSP00000337259
resolver
ensp
ENSP00000397310
resolver
enst
ENST00000314641
resolver
enst
ENST00000336775
resolver
enst
ENST00000446408
resolver
genesymbol
POPDC1
resolver
genesymbol_syn
BVES
resolver
genesymbol_syn
POP1
resolver
hgnc
HGNC:1152
resolver
uniprot
A8K1R4
resolver
uniprot
E1P5D8
resolver
uniprot
Q5T550
resolver
uniprot
Q5T551
resolver
uniprot
Q8IWC6
resolver
uniprot
Q9HBV0
resolver
uniprot
Q9UNG6
resolver
uniprot_entry
POPD1_HUMAN
resolver
uniprot_sec
A8K1R4
resolver
uniprot_sec
E1P5D8
resolver
uniprot_sec
Q5T550
resolver
uniprot_sec
Q5T551
resolver
uniprot_sec
Q8IWC6
resolver
uniprot_sec
Q9HBV0
resolver
uniprot_sec
Q9UNG6
resolver
amino_acid_sequence
MNYTESSPLRESTAIGFTPELESIIPVPSNKTTCENWREIHHLVFHVANICFAVGLVIPTTLHLHMIFLRGMLTLGCTLYIVWATLYRCALDIMIWNSVFLGVNILHLSYLLYKKRPVKIEKELSGMYRRLFEPLRVPPDLFRRLTGQFCMIQTLKKGQTYAAEDKTSVDDRLSILLKGKMKVSYRGHFLHNIYPCAFIDSPEFRSTQMHKGEKFQVTIIADDNCRFLCWSRERLTYFLESEPFLYEIFRYLIGKDITNKLYSLNDPTLNDKKAKKLEHQLSLCTQISMLEMRNSIASSSDSDDGLHQFLRGTSSMSSLHVSSPHQRASAKMKPIEEGAEDDDDVFEPASPNTLKVHQLP
uniprot
proteins
disease_involvement
DISEASE: Muscular dystrophy, limb-girdle, autosomal recessive 25 (LGMDR25) [MIM:616812]: An autosomal recessive muscular disorder characterized by slowly progressive onset of proximal lower limb weakness in adulthood, syncopal episodes, and markedly increased serum creatine kinase, which can increase further after strenuous exercise. {ECO:0000269|PubMed:26642364}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Cell adhesion molecule involved in the establishment and/or maintenance of cell integrity. Involved in the formation and regulation of the tight junction (TJ) paracellular permeability barrier in epithelial cells (PubMed:16188940). Plays a role in VAMP3-mediated vesicular transport and recycling of different receptor molecules through its interaction with VAMP3. Plays a role in the regulation of cell shape and movement by modulating the Rho-family GTPase activity through its interaction with ARHGEF25/GEFT. Induces primordial adhesive contact and aggregation of epithelial cells in a Ca(2+)-independent manner. Also involved in striated muscle regeneration and repair and in the regulation of cell spreading (By similarity). Important for the maintenance of cardiac function. Plays a regulatory function in heart rate dynamics mediated, at least in part, through cAMP-binding and, probably, by increasing cell surface expression of the potassium channel KCNK2 and enhancing current density (PubMed:26642364). Is also a caveolae-associated protein important for the preservation of caveolae structural and functional integrity as well as for heart protection against ischemia injury. {ECO:0000250|UniProtKB:Q5PQZ7, ECO:0000250|UniProtKB:Q9ES83, ECO:0000269|PubMed:16188940, ECO:0000269|PubMed:26642364}.
uniprot
proteins
mass_dalton
41451
uniprot
proteins
protein_family
Popeye family
uniprot
proteins
pubmed
10441744
uniprot
proteins
pubmed
10882522
uniprot
proteins
pubmed
14574404
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16188940
uniprot
proteins
pubmed
26642364
uniprot
proteins
sequence_length
360
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Lateral cell membrane {ECO:0000269|PubMed:16188940}. Cell junction, tight junction {ECO:0000269|PubMed:16188940}. Membrane {ECO:0000269|PubMed:26642364}; Multi-pass membrane protein {ECO:0000305}. Cell membrane, sarcolemma {ECO:0000269|PubMed:26642364}. Membrane, caveola {ECO:0000250|UniProtKB:Q9ES83}. Note=Colocalizes with VAMP3 at the cell-cell contact in cardiac and skeletal muscle (By similarity). Its movement from the cytoplasm to membrane is an early event occurring concurrently with cell-cell contact. Colocalizes in epithelial cells with OCLN and TJP1 in an apical-lateral position within the z axis. Detected at cell-cell contact but never observed at the free surface of epithelial cells. {ECO:0000250|UniProtKB:Q9ES83}.
uniprot
proteins
transmembrane_region
TRANSMEM 49..69; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 71..91; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 93..113; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins