TRAPPC2L
entrez
51693
canonical
uniprot
Q9UL33
canonical
ensembl
ENSG00000167515
resolver
ensp
ENSP00000301021
resolver
ensp
ENSP00000455892
resolver
ensp
ENSP00000457684
resolver
ensp
ENSP00000457728
resolver
ensp
ENSP00000512526
resolver
enst
ENST00000561840
resolver
enst
ENST00000567895
resolver
enst
ENST00000568583
resolver
genesymbol
TRAPPC2L
resolver
hgnc
HGNC:30887
resolver
uniprot
A0A0B4J294
resolver
uniprot
B2R4M9
resolver
uniprot
H3BQQ8
resolver
uniprot
H3BUK6
resolver
uniprot
Q6ZTA7
resolver
uniprot
Q9NZZ4
resolver
uniprot_entry
A0A0B4J294_HUMAN
resolver
uniprot_entry
H3BQQ8_HUMAN
resolver
uniprot_entry
H3BUK6_HUMAN
resolver
uniprot_entry
TPC2L_HUMAN
resolver
uniprot_sec
B2R4M9
resolver
uniprot_sec
Q6ZTA7
resolver
uniprot_sec
Q9NZZ4
resolver
amino_acid_sequence
MAVCIAVIAKENYPLYIRSTPTENELKFHYMVHTSLDVVDEKISAMGKALVDQRELYLGLLYPTEDYKVYGYVTNSKVKFVMVVDSSNTALRDNEIRSMFRKLHNSYTDVMCNPFYNPGDRIQSSRAFDNMVTSMMIQVC
uniprot
proteins
disease_involvement
DISEASE: Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis (PEERB) [MIM:618331]: An autosomal recessive disease characterized by progressive encephalopathy exacerbated by febrile illness and associated with severe neurodevelopmental delay, episodes of rhabdomyolysis, developmental regression, epilepsy and tetraplegia. {ECO:0000269|PubMed:30120216}. Note=The disease may be caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Plays a role in vesicular transport from endoplasmic reticulum to Golgi. {ECO:0000269|PubMed:19416478, ECO:0000269|PubMed:30120216}.
uniprot
proteins
mass_dalton
16146
uniprot
proteins
protein_family
Sedlin subfamily
uniprot
proteins
protein_family
TRAPP small subunits family
uniprot
proteins
pubmed
11042152
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15616553
uniprot
proteins
pubmed
19416478
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21525244
uniprot
proteins
pubmed
30120216
uniprot
proteins
sequence_length
140
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm, perinuclear region {ECO:0000269|PubMed:19416478}. Endoplasmic reticulum {ECO:0000269|PubMed:19416478}. Golgi apparatus {ECO:0000269|PubMed:19416478}.
uniprot
proteins