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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	51371
Gene name	Proteasome maturation protein
Gene symbol	POMP
Synonyms (NCBI Gene)	C13orf12HSPC014PNAS-110PRAAS2UMP1
Chromosome	13
Chromosome location	13q12.3
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

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

147

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 (13)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	14733938, 17948026, 25416956, 28514442, 30833792, 31473102, 32296183, 33961781, 35271311
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0016020	Component	Membrane	IEA
GO:0016607	Component	Nuclear speck	IDA
GO:0043248	Process	Proteasome assembly	IBA
GO:0043248	Process	Proteasome assembly	IEA
GO:0043248	Process	Proteasome assembly	IMP	17948026

MIM	HGNC	e!Ensembl
613386	20330	ENSG00000132963

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

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome	Pathogenic	rs112368783, rs1555257073	RCV000000136 RCV003333089	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Proteasome-associated autoinflammatory syndrome 2	Pathogenic	rs1555257073, rs1555257075, rs1555257076	RCV000663381 RCV000663379 RCV000663380	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (5)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Clear cell carcinoma of kidney	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KERATOSIS LINEARIS WITH ICHTHYOSIS CONGENITA AND SCLEROSING KERATODERMA	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POMP-related disorder	Uncertain significance; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (40)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Amniotic Bands	Amniotic Bands	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	29805043		★★★★★ ★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	24080446		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	24080446	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Clinodactyly	Clinodactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Clinodactyly of fingers	Clinodactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	32123008	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Combined immunodeficiency	Severe combined immunodeficiency disease	BEFREE	29805043		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Nonbullous Ichthyosiform Erythroderma	Congenital Nonbullous Ichthyosiform Erythroderma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dermatologic disorders	Dermatologic Disorders	BEFREE	22235297		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dystrophia unguium	Nail dystrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Eosinophilia	Eosinophilia	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Exfoliation Syndrome	Exfoliation Syndrome	CTD_human_DG	28553957		★★★★★ ★☆☆☆☆ Found in Text Mining only
Exfoliation Syndrome	Exfoliation Syndrome	BEFREE	29419649		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperkeratosis	Hyperkeratosis	BEFREE	22235297		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ichthyoses	Ichthyosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune system disease	Pubtator	29805043	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	26615982		★★★★★ ★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Keratoderma, Palmoplantar	Palmoplantar keratoderma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Keratosis	Keratosis	BEFREE	22235297		★★★★★ ★☆☆☆☆ Found in Text Mining only
Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma	Keratosis Linearis-Ichthyosis Congenita-Sclerosing Keratoderma Syndrome	BEFREE	20226437, 22235297		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma	Keratosis Linearis-Ichthyosis Congenita-Sclerosing Keratoderma Syndrome	ORPHANET_DG	20226437		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma	Keratosis Linearis-Ichthyosis Congenita-Sclerosing Keratoderma Syndrome	GENOMICS_ENGLAND_DG	20226437, 27503413		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma	Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome	Pubtator	20226437	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma	Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome	Pubtator	22235297	Inhibit	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma	Keratosis Linearis-Ichthyosis Congenita-Sclerosing Keratoderma Syndrome	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome	Keratosis Linearis-Ichthyosis Congenita-Sclerosing Keratoderma Syndrome	Orphanet			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Malignant neoplasm of breast	Breast Cancer	BEFREE	24080446, 26145175		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	31742837		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	26483548	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myelodysplasia	Myelodysplasia	BEFREE	26615982		★★★★★ ★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	26615982		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neonatal hypoglycemia	Hypoglycemia	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	26145175		★★★★★ ★☆☆☆☆ Found in Text Mining only
Parakeratosis	Parakeratosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 2	Proteasome-associated autoinflammatory syndrome	GENOMICS_ENGLAND_DG	29805043		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 2	Proteasome-associated autoinflammatory syndrome	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Psoriasis	Psoriasis	BEFREE	28728908		★★★★★ ★☆☆☆☆ Found in Text Mining only

POMP (proteasome maturation protein)