Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Proteasome maturation protein

Gene

POMP

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

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.3 Publications

Caution

Although this protein has been named voltage-gated K channel beta subunit 4.1 in Ref. 1 and Ref. 2, there is no evidence that it may play a role in ion transport.Curated

GO - Biological processi

  • proteasome assembly Source: UniProtKB

Keywordsi

Molecular functionChaperone

Names & Taxonomyi

Protein namesi
Recommended name:
Proteasome maturation protein
Alternative name(s):
Proteassemblin
Protein UMP1 homolog
Short name:
hUMP1
Voltage-gated K channel beta subunit 4.1
Gene namesi
Name:POMP
Synonyms:C13orf12, UMP1
ORF Names:HSPC014, HSPC036, PNAS-110
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 13

Organism-specific databases

EuPathDBiHostDB:ENSG00000132963.7
HGNCiHGNC:20330 POMP
MIMi613386 gene
neXtProtiNX_Q9Y244

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Endoplasmic reticulum, Membrane, Microsome, Nucleus

Pathology & Biotechi

Involvement in diseasei

Keratosis linearis with ichthyosis congenita and sclerosing keratoderma (KLICK)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:601952

Keywords - Diseasei

Ichthyosis, Palmoplantar keratoderma

Organism-specific databases

DisGeNETi51371
MalaCardsiPOMP
MIMi601952 phenotype
OpenTargetsiENSG00000132963
Orphaneti281201 Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome
PharmGKBiPA134898606

Polymorphism and mutation databases

BioMutaiPOMP
DMDMi74753466

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002471841 – 141Proteasome maturation proteinAdd BLAST141

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Cross-linki39Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources

Keywords - PTMi

Isopeptide bond, Ubl conjugation

Proteomic databases

EPDiQ9Y244
MaxQBiQ9Y244
PaxDbiQ9Y244
PeptideAtlasiQ9Y244
PRIDEiQ9Y244
ProteomicsDBi85643
TopDownProteomicsiQ9Y244

PTM databases

iPTMnetiQ9Y244
PhosphoSitePlusiQ9Y244

Expressioni

Tissue specificityi

Strongly expressed from the basal layer to the granular layer of healthy epidermis, whereas in KLICK patients there is a gradual decrease of expression toward the granular layer.1 Publication

Inductioni

By IFNG/IFN-gamma.3 Publications

Gene expression databases

BgeeiENSG00000132963
CleanExiHS_POMP
ExpressionAtlasiQ9Y244 baseline and differential
GenevisibleiQ9Y244 HS

Organism-specific databases

HPAiHPA026995

Interactioni

Subunit structurei

Constituent of preproteasomes, but not of mature 20S proteasomes. Within the preproteasome, may directly interact with PSMB1/beta6, PSMB4/beta7, PSMB5/beta5, PSMB6/beta1 and PSMB9/beta1i. Interaction with PSMB8/beta5i has been observed in PubMed:10973495, but not in PubMed:10926487. Forms tetramers.

Binary interactionsi

WithEntry#Exp.IntActNotes
PSMB5P280743EBI-696895,EBI-357828

Protein-protein interaction databases

BioGridi119504, 40 interactors
IntActiQ9Y244, 41 interactors
MINTiQ9Y244
STRINGi9606.ENSP00000370222

Structurei

3D structure databases

ProteinModelPortaliQ9Y244
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi68 – 72High-affinity association with the preproteasome5

Sequence similaritiesi

Belongs to the POMP/UMP1 family.Curated

Phylogenomic databases

eggNOGiKOG3061 Eukaryota
ENOG410XUI5 LUCA
GeneTreeiENSGT00390000010734
HOGENOMiHOG000276894
HOVERGENiHBG057292
InParanoidiQ9Y244
KOiK11599
OMAiLCPQGAY
OrthoDBiEOG091G0V3C
PhylomeDBiQ9Y244
TreeFamiTF323548

Family and domain databases

InterProiView protein in InterPro
IPR008012 Ump1
PANTHERiPTHR12828 PTHR12828, 1 hit

Sequencei

Sequence statusi: Complete.

Q9Y244-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MNARGLGSEL KDSIPVTELS ASGPFESHDL LRKGFSCVKN ELLPSHPLEL
60 70 80 90 100
SEKNFQLNQD KMNFSTLRNI QGLFAPLKLQ MEFKAVQQVQ RLPFLSSSNL
110 120 130 140
SLDVLRGNDE TIGFEDILND PSQSEVMGEP HLMVEYKLGL L
Length:141
Mass (Da):15,789
Last modified:November 1, 1999 - v1
Checksum:i2136624D232EF1C7
GO

Sequence cautioni

The sequence AAG23819 differs from that shown. Reason: Frameshift at position 140.Curated

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF262975 mRNA Translation: AAK58521.1
EF535527 mRNA Translation: ABQ08566.1
GU045555 mRNA Translation: ADE92939.1
GU045556 mRNA Translation: ADE92940.1
AF275807 mRNA Translation: AAG23819.1 Frameshift.
AF077200 mRNA Translation: AAD26995.1
AF125097 mRNA Translation: AAD39914.1
AK312118 mRNA Translation: BAG35054.1
AL359454 Genomic DNA No translation available.
CH471075 Genomic DNA Translation: EAX08435.1
BC014334 mRNA Translation: AAH14334.1
BC003390 mRNA Translation: AAH03390.1
CCDSiCCDS9331.1
RefSeqiNP_057016.1, NM_015932.5
UniGeneiHs.268742

Genome annotation databases

EnsembliENST00000380842; ENSP00000370222; ENSG00000132963
GeneIDi51371
KEGGihsa:51371
UCSCiuc001usf.4 human

Similar proteinsi

Entry informationi

Entry nameiPOMP_HUMAN
AccessioniPrimary (citable) accession number: Q9Y244
Secondary accession number(s): A5HKJ2, D6MXU3, Q9HB69
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 25, 2006
Last sequence update: November 1, 1999
Last modified: June 20, 2018
This is version 134 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 13
    Human chromosome 13: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. SIMILARITY comments
    Index of protein domains and families

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health