POMP
entrez
51371
canonical
uniprot
Q9Y244
canonical
ensembl
ENSG00000132963
resolver
ensp
ENSP00000370222
resolver
enst
ENST00000380842
resolver
genesymbol
POMP
resolver
genesymbol_syn
C13orf12
resolver
genesymbol_syn
UMP1
resolver
hgnc
HGNC:20330
resolver
uniprot
A5HKJ2
resolver
uniprot
D6MXU3
resolver
uniprot
Q9HB69
resolver
uniprot_entry
POMP_HUMAN
resolver
uniprot_sec
A5HKJ2
resolver
uniprot_sec
D6MXU3
resolver
uniprot_sec
Q9HB69
resolver
amino_acid_sequence
MNARGLGSELKDSIPVTELSASGPFESHDLLRKGFSCVKNELLPSHPLELSEKNFQLNQDKMNFSTLRNIQGLFAPLKLQMEFKAVQQVQRLPFLSSSNLSLDVLRGNDETIGFEDILNDPSQSEVMGEPHLMVEYKLGLL
uniprot
proteins
disease_involvement
DISEASE: Keratosis linearis with ichthyosis congenita and sclerosing keratoderma (KLICK) [MIM:601952]: A keratinizing disorder characterized by ichthyosis, palmoplantar keratoderma with constricting bands around fingers, flexural deformities of fingers and keratotic papules in a linear distribution on the flexural side of large joints. Histological examination of the skin of affected individuals shows hypertrophy and hyperplasia of the spinous, granular and horny epidermal layer. {ECO:0000269|PubMed:20226437}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Proteasome-associated autoinflammatory syndrome 2 (PRAAS2) [MIM:618048]: An autosomal dominant autoinflammatory disorder characterized by onset in early infancy and severe inflammatory neutrophilic dermatitis, autoimmunity, and variable immunodeficiency. {ECO:0000269|PubMed:26524591, ECO:0000269|PubMed:29805043}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Molecular chaperone essential for the assembly of standard proteasomes and immunoproteasomes. Degraded after completion of proteasome maturation. Mediates the association of 20S preproteasome with the endoplasmic reticulum. {ECO:0000269|PubMed:15944226, ECO:0000269|PubMed:16251969, ECO:0000269|PubMed:17948026}.
uniprot
proteins
mass_dalton
15789
uniprot
proteins
protein_family
POMP/UMP1 family
uniprot
proteins
pubmed
10891394
uniprot
proteins
pubmed
10926487
uniprot
proteins
pubmed
10973495
uniprot
proteins
pubmed
11042152
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
14733938
uniprot
proteins
pubmed
15057823
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15944226
uniprot
proteins
pubmed
16251969
uniprot
proteins
pubmed
16624403
uniprot
proteins
pubmed
17948026
uniprot
proteins
pubmed
20226437
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
23495936
uniprot
proteins
pubmed
26524591
uniprot
proteins
pubmed
26829627
uniprot
proteins
pubmed
28112733
uniprot
proteins
pubmed
29805043
uniprot
proteins
sequence_length
141
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm, cytosol. Nucleus. Microsome membrane.
uniprot
proteins