JKAMP
entrez
51528
canonical
uniprot
Q9P055
canonical
ensembl
ENSG00000050130
resolver
ensp
ENSP00000348351
resolver
ensp
ENSP00000389699
resolver
ensp
ENSP00000450749
resolver
ensp
ENSP00000479775
resolver
ensp
ENSP00000762807
resolver
enst
ENST00000554271
resolver
genesymbol
JKAMP
resolver
genesymbol_syn
C14orf100
resolver
genesymbol_syn
JAMP
resolver
hgnc
HGNC:20184
resolver
uniprot
B3KPC2
resolver
uniprot
B4DP67
resolver
uniprot
G3V2M4
resolver
uniprot
Q6FIB6
resolver
uniprot
Q6IAJ2
resolver
uniprot
Q7Z5D4
resolver
uniprot
Q86SY6
resolver
uniprot
Q9H0Q6
resolver
uniprot
Q9H2W0
resolver
uniprot
Q9HAH5
resolver
uniprot
Q9P0R3
resolver
uniprot_entry
B3KPC2_HUMAN
resolver
uniprot_entry
G3V2M4_HUMAN
resolver
uniprot_entry
JKAMP_HUMAN
resolver
uniprot_sec
B4DP67
resolver
uniprot_sec
Q6FIB6
resolver
uniprot_sec
Q6IAJ2
resolver
uniprot_sec
Q7Z5D4
resolver
uniprot_sec
Q86SY6
resolver
uniprot_sec
Q9H0Q6
resolver
uniprot_sec
Q9H2W0
resolver
uniprot_sec
Q9HAH5
resolver
uniprot_sec
Q9P0R3
resolver
amino_acid_sequence
MAVDIQPACLGLYCGKTLLFKNGSTEIYGECGVCPRGQRTNAQKYCQPCTESPELYDWLYLGFMAMLPLVLHWFFIEWYSGKKSSSALFQHITALFECSMAAIITLLVSDPVGVLYIRSCRVLMLSDWYTMLYNPSPDYVTTVHCTHEAVYPLYTIVFIYYAFCLVLMMLLRPLLVKKIACGLGKSDRFKSIYAALYFFPILTVLQAVGGGLLYYAFPYIILVLSLVTLAVYMSASEIENCYDLLVRKKRLIVLFSHWLLHAYGIISISRVDKLEQDLPLLALVPTPALFYLFTAKFTEPSRILSEGANGH
uniprot
proteins
disease_involvement
DISEASE: Neurodevelopmental disorder with seizures and impaired intellectual and language development (NEDSIL) [MIM:621533]: An autosomal recessive disorder characterized by intellectual disability, developmental delay, seizures, hypotonia, microcephaly, and dysmorphic features. {ECO:0000269|PubMed:41643666}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Regulates the duration of MAPK8 activity in response to various stress stimuli (By similarity). Facilitates the degradation of misfolded endoplasmic reticulum (ER) proteins through the recruitment of components of the proteasome and endoplasmic reticulum-associated degradation (ERAD) system (PubMed:18784250). Is required for proper degradation of prosaposin receptor GPR37 (PubMed:41643666). {ECO:0000250|UniProtKB:Q8BI36, ECO:0000269|PubMed:18784250, ECO:0000269|PubMed:41643666}.
uniprot
proteins
mass_dalton
35239
uniprot
proteins
post_translational_modification
PTM: Ubiquitinated by RNF5 via 'Lys-63'-linked ubiquitin linkage in a UBE2N-dependent manner. Ubiquitination decreases association with components of the proteasome and ERAD. {ECO:0000250|UniProtKB:Q8BI36}.
uniprot
proteins
pubmed
11042152
uniprot
proteins
pubmed
11230166
uniprot
proteins
pubmed
12800201
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
18784250
uniprot
proteins
pubmed
41643666
uniprot
proteins
sequence_length
311
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:18784250}; Multi-pass membrane protein {ECO:0000255}.
uniprot
proteins
transmembrane_region
TRANSMEM 58..78; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 88..108; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 150..170; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 189..209; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 211..231; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 251..271; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 278..298; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins