Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	51371
Gene name Gene Name - the full gene name approved by the HGNC.	Proteasome maturation protein
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	POMP
Synonyms (NCBI Gene) Gene synonyms aliases	C13orf12, HSPC014, PNAS-110, PRAAS2, UMP1
Disease Acronyms (UniProt) Disease acronyms from UniProt database	PRAAS2
Chromosome Chromosome number	13
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	13q12.3
Summary Summary of gene provided in NCBI Entrez Gene.	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

Show/Hide all(5)

SNP ID	Visualize variation	Clinical significance	Consequence
rs112368783	C>-	Pathogenic	Upstream transcript variant
rs1555257069	->A	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555257073	AT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1555257075	->TTTGA	Pathogenic	Coding sequence variant, frameshift variant
rs1555257076	TGAGGAT>ACC	Pathogenic	Coding sequence variant, frameshift variant

Show/Hide all(147)

miRTarBase ID	miRNA	Experiments	Reference
MIRT027886	hsa-miR-96-5p	Sequencing	20371350
MIRT028989	hsa-miR-26b-5p	Microarray	19088304
MIRT044227	hsa-miR-301a-3p	CLASH	23622248
MIRT1250056	hsa-miR-1264	CLIP-seq
MIRT1250057	hsa-miR-4477a	CLIP-seq
MIRT2073803	hsa-miR-1279	CLIP-seq
MIRT2073804	hsa-miR-2053	CLIP-seq
MIRT2073805	hsa-miR-3659	CLIP-seq
MIRT2073806	hsa-miR-4658	CLIP-seq
MIRT2073807	hsa-miR-4795-3p	CLIP-seq
MIRT2073808	hsa-miR-569	CLIP-seq
MIRT2073809	hsa-miR-574-5p	CLIP-seq
MIRT2073810	hsa-miR-642b	CLIP-seq
MIRT2073811	hsa-miR-656	CLIP-seq
MIRT2073804	hsa-miR-2053	CLIP-seq
MIRT2300644	hsa-miR-223	CLIP-seq
MIRT2300645	hsa-miR-3177-5p	CLIP-seq
MIRT2073805	hsa-miR-3659	CLIP-seq
MIRT2300646	hsa-miR-409-3p	CLIP-seq
MIRT2073806	hsa-miR-4658	CLIP-seq
MIRT2300647	hsa-miR-4697-3p	CLIP-seq
MIRT2073807	hsa-miR-4795-3p	CLIP-seq
MIRT2300648	hsa-miR-499-3p	CLIP-seq
MIRT2300649	hsa-miR-499a-3p	CLIP-seq
MIRT2300650	hsa-miR-520d-5p	CLIP-seq
MIRT2300651	hsa-miR-524-5p	CLIP-seq
MIRT2073808	hsa-miR-569	CLIP-seq
MIRT2073809	hsa-miR-574-5p	CLIP-seq
MIRT2073810	hsa-miR-642b	CLIP-seq
MIRT2073811	hsa-miR-656	CLIP-seq
MIRT2073804	hsa-miR-2053	CLIP-seq
MIRT2073805	hsa-miR-3659	CLIP-seq
MIRT2073806	hsa-miR-4658	CLIP-seq
MIRT2392841	hsa-miR-4717-3p	CLIP-seq
MIRT2073807	hsa-miR-4795-3p	CLIP-seq
MIRT2073808	hsa-miR-569	CLIP-seq
MIRT2073809	hsa-miR-574-5p	CLIP-seq
MIRT2073811	hsa-miR-656	CLIP-seq
MIRT2456899	hsa-miR-4326	CLIP-seq
MIRT2456900	hsa-miR-4738-3p	CLIP-seq
MIRT2597485	hsa-miR-101	CLIP-seq
MIRT2597486	hsa-miR-125a-3p	CLIP-seq
MIRT2597487	hsa-miR-1266	CLIP-seq
MIRT2073803	hsa-miR-1279	CLIP-seq
MIRT2597488	hsa-miR-142-5p	CLIP-seq
MIRT2597489	hsa-miR-144	CLIP-seq
MIRT2597490	hsa-miR-204	CLIP-seq
MIRT2073804	hsa-miR-2053	CLIP-seq
MIRT2597491	hsa-miR-2054	CLIP-seq
MIRT2597492	hsa-miR-211	CLIP-seq
MIRT2300644	hsa-miR-223	CLIP-seq
MIRT2597493	hsa-miR-3064-3p	CLIP-seq
MIRT2597494	hsa-miR-3140-3p	CLIP-seq
MIRT2597495	hsa-miR-3143	CLIP-seq
MIRT2300645	hsa-miR-3177-5p	CLIP-seq
MIRT2597496	hsa-miR-340	CLIP-seq
MIRT2597497	hsa-miR-3591-5p	CLIP-seq
MIRT2073805	hsa-miR-3659	CLIP-seq
MIRT2597498	hsa-miR-3664-3p	CLIP-seq
MIRT2597499	hsa-miR-369-3p	CLIP-seq
MIRT2597500	hsa-miR-374a	CLIP-seq
MIRT2597501	hsa-miR-374b	CLIP-seq
MIRT2597502	hsa-miR-3934	CLIP-seq
MIRT2597503	hsa-miR-3935	CLIP-seq
MIRT2300646	hsa-miR-409-3p	CLIP-seq
MIRT2597504	hsa-miR-4252	CLIP-seq
MIRT2597505	hsa-miR-4275	CLIP-seq
MIRT2597506	hsa-miR-4287	CLIP-seq
MIRT2597507	hsa-miR-433	CLIP-seq
MIRT2597508	hsa-miR-4468	CLIP-seq
MIRT2597509	hsa-miR-4469	CLIP-seq
MIRT2597510	hsa-miR-4473	CLIP-seq
MIRT2597511	hsa-miR-4518	CLIP-seq
MIRT2597512	hsa-miR-452	CLIP-seq
MIRT2073806	hsa-miR-4658	CLIP-seq
MIRT2597513	hsa-miR-4671-3p	CLIP-seq
MIRT2597514	hsa-miR-4676-3p	CLIP-seq
MIRT2597515	hsa-miR-4685-3p	CLIP-seq
MIRT2597516	hsa-miR-4693-3p	CLIP-seq
MIRT2597517	hsa-miR-4695-3p	CLIP-seq
MIRT2300647	hsa-miR-4697-3p	CLIP-seq
MIRT2597518	hsa-miR-4715-3p	CLIP-seq
MIRT2597519	hsa-miR-4766-5p	CLIP-seq
MIRT2597520	hsa-miR-4778-5p	CLIP-seq
MIRT2073807	hsa-miR-4795-3p	CLIP-seq
MIRT2300648	hsa-miR-499-3p	CLIP-seq
MIRT2300649	hsa-miR-499a-3p	CLIP-seq
MIRT2597521	hsa-miR-512-3p	CLIP-seq
MIRT2300650	hsa-miR-520d-5p	CLIP-seq
MIRT2597522	hsa-miR-520f	CLIP-seq
MIRT2300651	hsa-miR-524-5p	CLIP-seq
MIRT2597523	hsa-miR-548c-3p	CLIP-seq
MIRT2597524	hsa-miR-548u	CLIP-seq
MIRT2597525	hsa-miR-561	CLIP-seq
MIRT2073808	hsa-miR-569	CLIP-seq
MIRT2073809	hsa-miR-574-5p	CLIP-seq
MIRT2597526	hsa-miR-582-5p	CLIP-seq
MIRT2073810	hsa-miR-642b	CLIP-seq
MIRT2597527	hsa-miR-649	CLIP-seq
MIRT2073811	hsa-miR-656	CLIP-seq
MIRT2597528	hsa-miR-664	CLIP-seq
MIRT2597529	hsa-miR-764	CLIP-seq
MIRT2597530	hsa-miR-889	CLIP-seq
MIRT2597486	hsa-miR-125a-3p	CLIP-seq
MIRT2597487	hsa-miR-1266	CLIP-seq
MIRT2073803	hsa-miR-1279	CLIP-seq
MIRT2597490	hsa-miR-204	CLIP-seq
MIRT2073804	hsa-miR-2053	CLIP-seq
MIRT2597491	hsa-miR-2054	CLIP-seq
MIRT2597492	hsa-miR-211	CLIP-seq
MIRT2300644	hsa-miR-223	CLIP-seq
MIRT2597493	hsa-miR-3064-3p	CLIP-seq
MIRT2597495	hsa-miR-3143	CLIP-seq
MIRT2597497	hsa-miR-3591-5p	CLIP-seq
MIRT2073805	hsa-miR-3659	CLIP-seq
MIRT2597498	hsa-miR-3664-3p	CLIP-seq
MIRT2597499	hsa-miR-369-3p	CLIP-seq
MIRT2597500	hsa-miR-374a	CLIP-seq
MIRT2597501	hsa-miR-374b	CLIP-seq
MIRT2597502	hsa-miR-3934	CLIP-seq
MIRT2597503	hsa-miR-3935	CLIP-seq
MIRT2300646	hsa-miR-409-3p	CLIP-seq
MIRT2597504	hsa-miR-4252	CLIP-seq
MIRT2597505	hsa-miR-4275	CLIP-seq
MIRT2597506	hsa-miR-4287	CLIP-seq
MIRT2597507	hsa-miR-433	CLIP-seq
MIRT2597508	hsa-miR-4468	CLIP-seq
MIRT2597509	hsa-miR-4469	CLIP-seq
MIRT2597511	hsa-miR-4518	CLIP-seq
MIRT2597512	hsa-miR-452	CLIP-seq
MIRT2073806	hsa-miR-4658	CLIP-seq
MIRT2597514	hsa-miR-4676-3p	CLIP-seq
MIRT2597515	hsa-miR-4685-3p	CLIP-seq
MIRT2597516	hsa-miR-4693-3p	CLIP-seq
MIRT2597517	hsa-miR-4695-3p	CLIP-seq
MIRT2300647	hsa-miR-4697-3p	CLIP-seq
MIRT2597518	hsa-miR-4715-3p	CLIP-seq
MIRT2073807	hsa-miR-4795-3p	CLIP-seq
MIRT2597524	hsa-miR-548u	CLIP-seq
MIRT2073808	hsa-miR-569	CLIP-seq
MIRT2073809	hsa-miR-574-5p	CLIP-seq
MIRT2073810	hsa-miR-642b	CLIP-seq
MIRT2597527	hsa-miR-649	CLIP-seq
MIRT2073811	hsa-miR-656	CLIP-seq
MIRT2597528	hsa-miR-664	CLIP-seq
MIRT2597529	hsa-miR-764	CLIP-seq
MIRT2597530	hsa-miR-889	CLIP-seq

Show/Hide all(9)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	14733938, 17948026, 25416956, 28514442, 30833792, 32296183
GO:0005634	Component	Nucleus	IBA	21873635
GO:0005737	Component	Cytoplasm	IBA	21873635
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005829	Component	Cytosol	IEA
GO:0016607	Component	Nuclear speck	IDA
GO:0031090	Component	Organelle membrane	IEA
GO:0043248	Process	Proteasome assembly	IBA	21873635
GO:0043248	Process	Proteasome assembly	IMP	17948026

MIM	HGNC	e!Ensembl
613386	20330	ENSG00000132963

Protein

UniProt ID

Q9Y244

Protein name

Proteasome maturation protein (Proteassemblin) (Protein UMP1 homolog) (hUMP1) (Voltage-gated K channel beta subunit 4.1)

Protein 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. {ECO:0000269|PubMed:1

PDB

8QYJ , 8QYL , 8QYM , 8QYN , 8QYS , 8QZ9 , 8TM4 , 8TM5 , 8TM6 , 8YIX , 8YIY

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF05348	UMP1	23 → 138	Proteasome maturation factor UMP1	Family

Tissue specificity

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. {ECO:0000269|PubMed:20226437}.

Sequence

MNARGLGSELKDSIPVTELSASGPFESHDLLRKGFSCVKNELLPSHPLELSEKNFQLNQD
KMNFSTLRNIQGLFAPLKLQMEFKAVQQVQRLPFLSSSNLSLDVLRGNDETIGFEDILND
PSQSEVMGEPHLMVEYKLGLL

Sequence length

141

Interactions

View interactions

	KEGG
	Proteasome

Show/Hide Causal Diseases (5)

Disease term	Disease name	dbSNP ID	References
Causal
Brachydactyly	Brachydactyly	rs121908949, rs28937580, rs121909082, rs104894122, rs863223289, rs863223290, rs104894121, rs1587657302, rs863223292, rs74315386, rs74315387, rs28936397, rs753691079, rs121909348, rs121917852 View all (22 more)
Ichthyosis	Ichthyoses	rs199766569, rs587776996, rs587777262, rs863223405, rs370031870, rs1569044747, rs200806519
Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome	Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma, Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome	rs112368783, rs1555257073	20226437, 27503413
Palmoplantar keratoderma	Keratoderma, Palmoplantar	rs59616921, rs1568039793, rs746488412, rs200564757, rs1567027297, rs781596375, rs1567027610, rs398123054, rs398123055, rs398123056, rs398123057, rs398122949, rs398122950, rs397515639, rs398122951 View all (10 more)
Proteasome-associated autoinflammatory syndrome	PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 2	rs387906680, rs146254972, rs1555257073, rs1554239543, rs1553209362, rs1553209373, rs1555257075, rs1555257076, rs748082671	29805043

Show/Hide Unknown Diseases (1)

Disease term	Disease name	Evidence	References	Source
Unknown
Exfoliation syndrome	Exfoliation Syndrome		28553957	ClinVar

Show/Hide Text Mining Associations (8)

Disease Name	Relationship Type	References
Associations from Text Mining
Breast Neoplasms	Associate	24080446
Colonic Neoplasms	Associate	32123008
Immune Dysregulation Polyendocrinopathy Enteropathy X Linked Syndrome	Associate	33864888
Immune System Diseases	Associate	29805043
Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma	Associate	20226437
Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma	Inhibit	22235297
Multiple Myeloma	Associate	26483548
Neoplasm Metastasis	Associate	32123008

POMP (proteasome maturation protein)