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POMP (proteasome maturation protein)

Gene

51371

Proteasome maturation protein

POMP

C13orf12, HSPC014, PNAS-110, PRAAS2, UMP1

13q12.3

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

Sequence

MNARGLGSELKDSIPVTELSASGPFESHDLLRKGFSCVKNELLPSHPLELSEKNFQLNQD
KMNFSTLRNIQGLFAPLKLQMEFKAVQQVQRLPFLSSSNLSLDVLRGNDETIGFEDILND
PSQSEVMGEPHLMVEYKLGLL

Sequence length

141

Interactions

View interactions

	KEGG
	Proteasome

Associated diseases

Show/Hide Causal Diseases (6)

Causal
Disease name	Disease term	dbSNP ID	References
Brachydactyly	Brachydactyly	rs121908949, rs28937580, rs121909082, rs104894122, rs863223289, rs863223290, rs104894121, rs1587657302, rs863223292, rs74315386, rs74315387, rs28936397, rs753691079, rs121909348, rs121917852, rs121917853, rs121917854, rs121917855, rs121917859, rs121917861, rs267606873, rs267606872, rs267606985, rs267606986, rs267606987, rs267606988, rs28933082, rs397514519, rs869025613, rs869025614, rs886039878, rs1553540620, rs1057518333, rs1948841937, rs1948868228, rs1948842030, rs1948842142
Exfoliation syndrome	Exfoliation Syndrome	rs1048661, rs2165241	28553957
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, rs397515640, rs397515641, rs142859678, rs797044479, rs577442939, rs672601344, rs568609861, rs1057518846, rs1182196436, rs1567037561
Proteasome-associated autoinflammatory syndrome	PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 2	rs387906680, rs146254972, rs1555257073, rs1554239543, rs1553209362, rs1553209373, rs1555257075, rs1555257076, rs748082671	29805043

Show/Hide Unknown Diseases (8)

Unknown
Disease name	Disease term	dbSNP ID	References
Amniotic bands	Amniotic Bands
Clinodactyly	Clinodactyly of fingers, Clinodactyly
Congenital nonbullous ichthyosiform erythroderma	Congenital Nonbullous Ichthyosiform Erythroderma
Eosinophilia	Eosinophilia
Immunologic deficiency syndromes	Immunologic Deficiency Syndromes
Nail dystrophy	Dystrophia unguium
Hypoglycemia	Neonatal hypoglycemia
Parakeratosis	Parakeratosis

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