Entity Details

Primary name POMP_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ9Y244
EntryNamePOMP_HUMAN
FullNameProteasome maturation protein
TaxID9606
Evidenceevidence at protein level
Length141
SequenceStatuscomplete
DateCreated2006-07-25
DateModified2021-06-02

Ontological Relatives

GenesPOMP

GO terms

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GOName
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005783 endoplasmic reticulum
GO:0005829 cytosol
GO:0016020 membrane
GO:0016607 nuclear speck
GO:0043248 proteasome assembly

Subcellular Location

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Subcellular Location
Cytoplasm
Microsome membrane
Nucleus

Domains

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DomainNameCategoryType
IPR008012 Proteasome maturation factor Ump1FamilyFamily

Diseases

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Disease IDSourceNameDescription
601952 OMIMKeratosis linearis with ichthyosis congenita and sclerosing keratoderma (KLICK)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. The disease is caused by variants affecting the gene represented in this entry.
618048 OMIMProteasome-associated autoinflammatory syndrome 2 (PRAAS2)An autosomal dominant autoinflammatory disorder characterized by onset in early infancy and severe inflammatory neutrophilic dermatitis, autoimmunity, and variable immunodeficiency. The disease is caused by variants affecting the gene represented in this entry.

Interactions

37 interactions

InteractorPartnerSourcesPublicationsLink
POMP_HUMANPSB1_HUMANBioGRID, HPRD, IntAct, MINT14733938 17506986 17948026 26344197 28514442 details
POMP_HUMANPSB9_HUMANBioGRID, IntAct14733938 17506986 17948026 26186194 28514442 30833792 details
POMP_HUMANPSB5_HUMANBioGRID, HPRD, IntAct, MINT14733938 15944226 17189198 17948026 20980621 details
POMP_HUMANPSB6_HUMANBioGRID, HPRD, IntAct, MINT14733938 17948026 details
POMP_HUMANPSB7_HUMANBioGRID, HPRD, IntAct, MINT14733938 17948026 26186194 26344197 28514442 details
POMP_HUMANPSA7_HUMANBioGRID, MINT17189198 17948026 details
POMP_HUMANPSB4_HUMANBioGRID, IntAct, MINT17189198 17948026 26186194 28514442 details
POMP_HUMANPSB3_HUMANBioGRID, IntAct, MINT17189198 17948026 25416956 28514442 details
POMP_HUMANPOMP_HUMANBioGRID, MINT17948026 details
POMP_HUMANPSB2_HUMANBioGRID, IntAct, MINT17189198 17948026 28514442 details
POMP_HUMANPSA3_HUMANBioGRID, MINT17948026 details
POMP_HUMANPSA4_HUMANBioGRID, MINT17948026 26344197 details
POMP_HUMANGRB2_HUMANBioGRID, IntAct18624398 details
POMP_HUMANCAN3_HUMANBioGRID, IntAct23414517 details
POMP_HUMANATX1_HUMANBioGRID, IntAct23414517 details
POMP_HUMANARMT1_HUMANBioGRID, IntAct23414517 details
POMP_HUMANGPDA_HUMANBioGRID, IntAct23414517 details
POMP_HUMANKLH41_HUMANBioGRID, IntAct23414517 details
POMP_HUMANKIF1B_HUMANBioGRID, IntAct23414517 details
POMP_HUMANPYGM_HUMANBioGRID, IntAct23414517 details
POMP_HUMANRBM5_HUMANBioGRID, IntAct23414517 details
POMP_HUMANSSRD_HUMANBioGRID, IntAct23414517 details
POMP_HUMANTITIN_HUMANBioGRID, IntAct23414517 details
POMP_HUMANVINC_HUMANBioGRID, IntAct23414517 details
POMP_HUMANMPPD2_HUMANBioGRID, IntAct32296183 details
POMP_HUMANPSA1_HUMANBioGRID, IntAct17948026 26186194 28514442 29568061 details
POMP_HUMANPSB8_HUMANBioGRID15944226 17948026 details
POMP_HUMANPSB10_HUMANBioGRID17948026 details
POMP_HUMANKCA10_HUMANBioGRID, HPRD12060596 details
POMP_HUMANECT2_HUMANBioGRID22990118 details
POMP_HUMANF107A_HUMANBioGRID28604741 details
POMP_HUMANPSMG2_HUMANBioGRID, IntAct, MINT17189198 17948026 26186194 28514442 details
POMP_HUMANPSA6_HUMANBioGRID, MINT17189198 17948026 details
POMP_HUMANCE120_HUMANBioGRID, IntAct27173435 unassigned1312 details
POMP_HUMANPSMG1_HUMANBioGRID, IntAct17189198 27173435 unassigned1312 details
POMP_HUMANPSA2_HUMANBioGRID10973495 17189198 details
POMP_HUMANPSA5_HUMANBioGRID17189198 26344197 details