Human Gene POMP (ENST00000380842.5) from GENCODE V44
Description: Homo sapiens proteasome maturation protein (POMP), mRNA. (from RefSeq NM_015932) RefSeq Summary (NM_015932): 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]. Gencode Transcript: ENST00000380842.5 Gencode Gene: ENSG00000132963.9 Transcript (Including UTRs) Position: hg38 chr13:28,659,130-28,678,959 Size: 19,830 Total Exon Count: 6 Strand: + Coding Region Position: hg38 chr13:28,659,185-28,678,102 Size: 18,918 Coding Exon Count: 6
ID:POMP_HUMAN DESCRIPTION: RecName: Full=Proteasome maturation protein; AltName: Full=Proteassemblin; AltName: Full=Protein UMP1 homolog; Short=hUMP1; AltName: Full=Voltage-gated K channel beta subunit 4.1; 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. SUBUNIT: 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. SUBCELLULAR LOCATION: Cytoplasm, cytosol. Nucleus. Microsome membrane. TISSUE SPECIFICITY: 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. INDUCTION: By IFNG/IFN-gamma. DISEASE: Defects in POMP are the cause of keratosis linearis with ichthyosis congenita and sclerosing keratoderma (KLICK) [MIM:601952]. KLICK is 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. SIMILARITY: Belongs to the POMP/UMP1 family. 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. SEQUENCE CAUTION: Sequence=AAG23819.1; Type=Frameshift; Positions=140;
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q9Y244
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
US Server
