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Protein

Proteasome maturation protein

Gene

POMP

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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

GO - Biological processi

  • proteasome assembly Source: UniProtKB
Complete GO annotation...

Keywords - Molecular functioni

Chaperone

Enzyme and pathway databases

BioCyciZFISH:ENSG00000132963-MONOMER.

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

HGNCiHGNC:20330. POMP.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

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

Proteomic databases

EPDiQ9Y244.
MaxQBiQ9Y244.
PaxDbiQ9Y244.
PeptideAtlasiQ9Y244.
PRIDEiQ9Y244.
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.
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. 37 interactors.
IntActiQ9Y244. 32 interactors.
MINTiMINT-1695725.
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.
OMAiMMEYKLG.
OrthoDBiEOG091G0V3C.
PhylomeDBiQ9Y244.
TreeFamiTF323548.

Family and domain databases

InterProiIPR008012. Ump1.
[Graphical view]
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. Translation: CAI17157.1.
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.

Cross-referencesi

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. Translation: CAI17157.1.
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.

3D structure databases

ProteinModelPortaliQ9Y244.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi119504. 37 interactors.
IntActiQ9Y244. 32 interactors.
MINTiMINT-1695725.
STRINGi9606.ENSP00000370222.

PTM databases

iPTMnetiQ9Y244.
PhosphoSitePlusiQ9Y244.

Polymorphism and mutation databases

BioMutaiPOMP.
DMDMi74753466.

Proteomic databases

EPDiQ9Y244.
MaxQBiQ9Y244.
PaxDbiQ9Y244.
PeptideAtlasiQ9Y244.
PRIDEiQ9Y244.
TopDownProteomicsiQ9Y244.

Protocols and materials databases

DNASUi51371.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi51371.
DisGeNETi51371.
GeneCardsiPOMP.
HGNCiHGNC:20330. POMP.
HPAiHPA026995.
MalaCardsiPOMP.
MIMi601952. phenotype.
613386. gene.
neXtProtiNX_Q9Y244.
OpenTargetsiENSG00000132963.
Orphaneti281201. Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome.
PharmGKBiPA134898606.
GenAtlasiSearch...

Phylogenomic databases

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

Enzyme and pathway databases

BioCyciZFISH:ENSG00000132963-MONOMER.

Miscellaneous databases

ChiTaRSiPOMP. human.
GeneWikiiPOMP.
GenomeRNAii51371.
PROiQ9Y244.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000132963.
CleanExiHS_POMP.
GenevisibleiQ9Y244. HS.

Family and domain databases

InterProiIPR008012. Ump1.
[Graphical view]
PANTHERiPTHR12828. PTHR12828. 1 hit.
ProtoNetiSearch...

Entry informationi

Entry nameiPOMP_HUMAN
AccessioniPrimary (citable) accession number: Q9Y244
Secondary accession number(s): A5HKJ2, D6MXU3, Q9HB69
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 25, 2006
Last sequence update: November 1, 1999
Last modified: November 2, 2016
This is version 122 of the entry and version 1 of the sequence. [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

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

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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.