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POMP proteasome maturation protein [ Homo sapiens (human) ]

Gene ID: 51371, updated on 7-Jun-2020

Summary

Official Symbol
POMPprovided by HGNC
Official Full Name
proteasome maturation proteinprovided by HGNC
Primary source
HGNC:HGNC:20330
See related
Ensembl:ENSG00000132963 MIM:613386
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
UMP1; PRAAS2; HSPC014; C13orf12; PNAS-110
Summary
The protein encoded by this gene is a molecular chaperone that binds 20S preproteasome components and is essential for 20S proteasome formation. The 20S proteasome is the proteolytically active component of the 26S proteasome complex. The encoded protein is degraded before the maturation of the 20S proteasome is complete. A variant in the 5' UTR of this gene has been associated with KLICK syndrome, a rare skin disorder.[provided by RefSeq, Aug 2010]
Expression
Ubiquitous expression in placenta (RPKM 45.6), colon (RPKM 36.4) and 25 other tissues See more
Orthologs

Genomic context

See POMP in Genome Data Viewer
Location:
13q12.3
Exon count:
6
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 13 NC_000013.11 (28659130..28678959)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (29233141..29253094)

Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105370135 Neighboring gene eukaryotic translation initiation factor 4A1 pseudogene 7 Neighboring gene solute carrier family 46 member 3 Neighboring gene RNA, U6 small nuclear 53, pseudogene Neighboring gene cytochrome P450 family 51 subfamily A member 1 pseudogene 2

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Keratosis linearis with ichthyosis congenita and sclerosing keratoderma
MedGen: C1866029 OMIM: 601952 GeneReviews: Not available
Compare labs
PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 2
MedGen: C4747989 OMIM: 618048 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
Genetic modifiers of menopausal hormone replacement therapy and breast cancer risk: a genome-wide interaction study.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
proteasome assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
proteasome assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol IEA
Inferred from Electronic Annotation
more info
 
endoplasmic reticulum IEA
Inferred from Electronic Annotation
more info
 
nuclear speck IDA
Inferred from Direct Assay
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
organelle membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
proteasome maturation protein
Names
2510048O06Rik
hUMP1
proteassemblin
protein UMP1 homolog
voltage-gated K channel beta subunit 4.1
voltage-gated potassium channel beta subunit 4.1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_027550.1 RefSeqGene

    Range
    5127..24956
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_015932.6NP_057016.1  proteasome maturation protein

    See identical proteins and their annotated locations for NP_057016.1

    Status: REVIEWED

    Source sequence(s)
    AL359454, BC014334, CD369437, GU045555
    Consensus CDS
    CCDS9331.1
    UniProtKB/Swiss-Prot
    Q9Y244
    Related
    ENSP00000370222.4, ENST00000380842.5
    Conserved Domains (1) summary
    pfam05348
    Location:25138
    UMP1; Proteasome maturation factor UMP1

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000013.11 Reference GRCh38.p13 Primary Assembly

    Range
    28659130..28678959
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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