PSMA5 (proteasome 20S subunit alpha 5)

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Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases Related genes Diseases linked via similar genes

Gene

• Entrez ID: 5686
• Gene name: Proteasome 20S subunit alpha 5
• Gene symbol: PSMA5
• Synonyms (NCBI Gene): PSC5, ZETA
• Chromosome: 1
• Chromosome location: 1p13.3
• Summary: The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta

miRNA Show/Hide all (283)

miRTarBase ID	miRNA	Experiments	Reference
MIRT048502	hsa-miR-100-5p	CLASH	23622248
MIRT442427	hsa-miR-6800-3p	PAR-CLIP	22100165
MIRT442426	hsa-miR-3185	PAR-CLIP	22100165
MIRT442425	hsa-miR-4709-3p	PAR-CLIP	22100165
MIRT442424	hsa-miR-192-3p	PAR-CLIP	22100165
MIRT442423	hsa-miR-6505-3p	PAR-CLIP	22100165
MIRT442427	hsa-miR-6800-3p	PAR-CLIP	22100165
MIRT442426	hsa-miR-3185	PAR-CLIP	22100165
MIRT442425	hsa-miR-4709-3p	PAR-CLIP	22100165
MIRT442424	hsa-miR-192-3p	PAR-CLIP	22100165
MIRT442423	hsa-miR-6505-3p	PAR-CLIP	22100165
MIRT442427	hsa-miR-6800-3p	PAR-CLIP	22100165
MIRT442426	hsa-miR-3185	PAR-CLIP	22100165
MIRT442425	hsa-miR-4709-3p	PAR-CLIP	22100165
MIRT442424	hsa-miR-192-3p	PAR-CLIP	22100165
MIRT442423	hsa-miR-6505-3p	PAR-CLIP	22100165
MIRT442427	hsa-miR-6800-3p	PAR-CLIP	22100165
MIRT442426	hsa-miR-3185	PAR-CLIP	22100165
MIRT442425	hsa-miR-4709-3p	PAR-CLIP	22100165
MIRT442424	hsa-miR-192-3p	PAR-CLIP	22100165
MIRT442423	hsa-miR-6505-3p	PAR-CLIP	22100165
MIRT1270026	hsa-miR-3919	CLIP-seq
MIRT1270027	hsa-miR-4303	CLIP-seq
MIRT1270028	hsa-miR-4646-3p	CLIP-seq
MIRT1270029	hsa-miR-4649-3p	CLIP-seq
MIRT1270030	hsa-miR-1208	CLIP-seq
MIRT1270031	hsa-miR-141	CLIP-seq
MIRT1270032	hsa-miR-196a	CLIP-seq
MIRT1270033	hsa-miR-196b	CLIP-seq
MIRT1270034	hsa-miR-200a	CLIP-seq
MIRT1270035	hsa-miR-3927	CLIP-seq
MIRT1270036	hsa-miR-4511	CLIP-seq
MIRT1270037	hsa-miR-4642	CLIP-seq
MIRT1270038	hsa-miR-4790-3p	CLIP-seq
MIRT1270039	hsa-miR-511	CLIP-seq
MIRT1270040	hsa-miR-578	CLIP-seq
MIRT1270041	hsa-miR-582-3p	CLIP-seq
MIRT1270042	hsa-miR-601	CLIP-seq
MIRT1270043	hsa-miR-1299	CLIP-seq
MIRT1270044	hsa-miR-3156-5p	CLIP-seq
MIRT1270045	hsa-miR-326	CLIP-seq
MIRT1270046	hsa-miR-330-5p	CLIP-seq
MIRT1270047	hsa-miR-34b	CLIP-seq
MIRT1270048	hsa-miR-34c-3p	CLIP-seq
MIRT1270049	hsa-miR-3924	CLIP-seq
MIRT1270050	hsa-miR-3942-3p	CLIP-seq
MIRT1270051	hsa-miR-4668-3p	CLIP-seq
MIRT1270052	hsa-miR-593	CLIP-seq
MIRT1270053	hsa-miR-875-3p	CLIP-seq
MIRT2079414	hsa-miR-1262	CLIP-seq
MIRT2079415	hsa-miR-1285	CLIP-seq
MIRT2079416	hsa-miR-3174	CLIP-seq
MIRT2079417	hsa-miR-3187-5p	CLIP-seq
MIRT2079418	hsa-miR-4487	CLIP-seq
MIRT2079419	hsa-miR-4701-3p	CLIP-seq
MIRT2079420	hsa-miR-4786-5p	CLIP-seq
MIRT2079421	hsa-miR-513a-3p	CLIP-seq
MIRT2079422	hsa-miR-612	CLIP-seq
MIRT2079423	hsa-miR-642b	CLIP-seq
MIRT2079424	hsa-miR-661	CLIP-seq
MIRT2079425	hsa-miR-769-5p	CLIP-seq
MIRT2079426	hsa-miR-921	CLIP-seq
MIRT2079418	hsa-miR-4487	CLIP-seq
MIRT2079415	hsa-miR-1285	CLIP-seq
MIRT2305657	hsa-miR-1302	CLIP-seq
MIRT2305658	hsa-miR-28-5p	CLIP-seq
MIRT2305659	hsa-miR-3139	CLIP-seq
MIRT2305660	hsa-miR-3163	CLIP-seq
MIRT2079416	hsa-miR-3174	CLIP-seq
MIRT2079417	hsa-miR-3187-5p	CLIP-seq
MIRT2305661	hsa-miR-3192	CLIP-seq
MIRT2305662	hsa-miR-376a	CLIP-seq
MIRT2305663	hsa-miR-376b	CLIP-seq
MIRT2305664	hsa-miR-378	CLIP-seq
MIRT2305665	hsa-miR-378b	CLIP-seq
MIRT2305666	hsa-miR-378c	CLIP-seq
MIRT2305667	hsa-miR-378d	CLIP-seq
MIRT2305668	hsa-miR-378e	CLIP-seq
MIRT2305669	hsa-miR-378f	CLIP-seq
MIRT2305670	hsa-miR-378h	CLIP-seq
MIRT2305671	hsa-miR-378i	CLIP-seq
MIRT2305672	hsa-miR-3913-3p	CLIP-seq
MIRT1270049	hsa-miR-3924	CLIP-seq
MIRT2305673	hsa-miR-422a	CLIP-seq
MIRT2305674	hsa-miR-4282	CLIP-seq
MIRT2305675	hsa-miR-4298	CLIP-seq
MIRT2305676	hsa-miR-4314	CLIP-seq
MIRT2079418	hsa-miR-4487	CLIP-seq
MIRT2305677	hsa-miR-4646-5p	CLIP-seq
MIRT2079420	hsa-miR-4786-5p	CLIP-seq
MIRT2079422	hsa-miR-612	CLIP-seq
MIRT2079424	hsa-miR-661	CLIP-seq
MIRT2305678	hsa-miR-708	CLIP-seq
MIRT2079425	hsa-miR-769-5p	CLIP-seq
MIRT2079426	hsa-miR-921	CLIP-seq
MIRT2602810	hsa-miR-1185	CLIP-seq
MIRT2602811	hsa-miR-1243	CLIP-seq
MIRT2602812	hsa-miR-1269	CLIP-seq
MIRT2602813	hsa-miR-1269b	CLIP-seq
MIRT2602814	hsa-miR-1270	CLIP-seq
MIRT2602815	hsa-miR-1272	CLIP-seq
MIRT2602816	hsa-miR-1283	CLIP-seq
MIRT2079415	hsa-miR-1285	CLIP-seq
MIRT2602817	hsa-miR-1288	CLIP-seq
MIRT2602818	hsa-miR-1297	CLIP-seq
MIRT2602819	hsa-miR-1304	CLIP-seq
MIRT2602820	hsa-miR-1322	CLIP-seq
MIRT2602821	hsa-miR-147	CLIP-seq
MIRT2602822	hsa-miR-2110	CLIP-seq
MIRT2602823	hsa-miR-2113	CLIP-seq
MIRT2602824	hsa-miR-2467-5p	CLIP-seq
MIRT2602825	hsa-miR-26a	CLIP-seq
MIRT2602826	hsa-miR-26b	CLIP-seq
MIRT2305658	hsa-miR-28-5p	CLIP-seq
MIRT2305659	hsa-miR-3139	CLIP-seq
MIRT2602827	hsa-miR-3153	CLIP-seq
MIRT2602828	hsa-miR-3154	CLIP-seq
MIRT1270044	hsa-miR-3156-5p	CLIP-seq
MIRT2602829	hsa-miR-3160-3p	CLIP-seq
MIRT2305660	hsa-miR-3163	CLIP-seq
MIRT2602830	hsa-miR-3168	CLIP-seq
MIRT2079416	hsa-miR-3174	CLIP-seq
MIRT2079417	hsa-miR-3187-5p	CLIP-seq
MIRT2602831	hsa-miR-3188	CLIP-seq
MIRT2602832	hsa-miR-320a	CLIP-seq
MIRT2602833	hsa-miR-320b	CLIP-seq
MIRT2602834	hsa-miR-320c	CLIP-seq
MIRT2602835	hsa-miR-320d	CLIP-seq
MIRT2602836	hsa-miR-3605-5p	CLIP-seq
MIRT2602837	hsa-miR-3613-3p	CLIP-seq
MIRT2602838	hsa-miR-3647-3p	CLIP-seq
MIRT2602839	hsa-miR-3654	CLIP-seq
MIRT2602840	hsa-miR-3657	CLIP-seq
MIRT2602841	hsa-miR-3679-5p	CLIP-seq
MIRT2305664	hsa-miR-378	CLIP-seq
MIRT2305665	hsa-miR-378b	CLIP-seq
MIRT2305666	hsa-miR-378c	CLIP-seq
MIRT2305667	hsa-miR-378d	CLIP-seq
MIRT2305668	hsa-miR-378e	CLIP-seq
MIRT2305669	hsa-miR-378f	CLIP-seq
MIRT2305670	hsa-miR-378h	CLIP-seq
MIRT2305671	hsa-miR-378i	CLIP-seq
MIRT2305672	hsa-miR-3913-3p	CLIP-seq
MIRT1270026	hsa-miR-3919	CLIP-seq
MIRT2602842	hsa-miR-3929	CLIP-seq
MIRT2602843	hsa-miR-3973	CLIP-seq
MIRT2602844	hsa-miR-3975	CLIP-seq
MIRT2305673	hsa-miR-422a	CLIP-seq
MIRT2602845	hsa-miR-4271	CLIP-seq
MIRT2305674	hsa-miR-4282	CLIP-seq
MIRT1270027	hsa-miR-4303	CLIP-seq
MIRT2602846	hsa-miR-4310	CLIP-seq
MIRT2602847	hsa-miR-4419b	CLIP-seq
MIRT2602848	hsa-miR-4429	CLIP-seq
MIRT2602849	hsa-miR-4433	CLIP-seq
MIRT2602850	hsa-miR-4459	CLIP-seq
MIRT2602851	hsa-miR-4465	CLIP-seq
MIRT2602852	hsa-miR-4477b	CLIP-seq
MIRT2602853	hsa-miR-4478	CLIP-seq
MIRT2079418	hsa-miR-4487	CLIP-seq
MIRT2602854	hsa-miR-4506	CLIP-seq
MIRT2602855	hsa-miR-4515	CLIP-seq
MIRT1270028	hsa-miR-4646-3p	CLIP-seq
MIRT1270029	hsa-miR-4649-3p	CLIP-seq
MIRT2602856	hsa-miR-4660	CLIP-seq
MIRT2602857	hsa-miR-4666-3p	CLIP-seq
MIRT2602858	hsa-miR-4669	CLIP-seq
MIRT2602859	hsa-miR-4683	CLIP-seq
MIRT2602860	hsa-miR-4725-3p	CLIP-seq
MIRT2602861	hsa-miR-4729	CLIP-seq
MIRT2602862	hsa-miR-4740-5p	CLIP-seq
MIRT2602863	hsa-miR-4760-5p	CLIP-seq
MIRT2602864	hsa-miR-4768-3p	CLIP-seq
MIRT2602865	hsa-miR-4772-5p	CLIP-seq
MIRT2602866	hsa-miR-4775	CLIP-seq
MIRT2079420	hsa-miR-4786-5p	CLIP-seq
MIRT2602867	hsa-miR-4796-3p	CLIP-seq
MIRT2602868	hsa-miR-485-5p	CLIP-seq
MIRT2602869	hsa-miR-494	CLIP-seq
MIRT2602870	hsa-miR-500a	CLIP-seq
MIRT2602871	hsa-miR-520g	CLIP-seq
MIRT2602872	hsa-miR-520h	CLIP-seq
MIRT2602873	hsa-miR-548c-3p	CLIP-seq
MIRT2602874	hsa-miR-548n	CLIP-seq
MIRT2602875	hsa-miR-548t	CLIP-seq
MIRT2602876	hsa-miR-558	CLIP-seq
MIRT2602877	hsa-miR-577	CLIP-seq
MIRT2602878	hsa-miR-590-3p	CLIP-seq
MIRT2602879	hsa-miR-599	CLIP-seq
MIRT2079422	hsa-miR-612	CLIP-seq
MIRT2602880	hsa-miR-620	CLIP-seq
MIRT2079424	hsa-miR-661	CLIP-seq
MIRT2305678	hsa-miR-708	CLIP-seq
MIRT2079425	hsa-miR-769-5p	CLIP-seq
MIRT1270053	hsa-miR-875-3p	CLIP-seq
MIRT2602881	hsa-miR-885-3p	CLIP-seq
MIRT2602882	hsa-miR-889	CLIP-seq
MIRT2079426	hsa-miR-921	CLIP-seq
MIRT2602810	hsa-miR-1185	CLIP-seq
MIRT2688822	hsa-miR-1227	CLIP-seq
MIRT2602814	hsa-miR-1270	CLIP-seq
MIRT2602815	hsa-miR-1272	CLIP-seq
MIRT2079415	hsa-miR-1285	CLIP-seq
MIRT2602818	hsa-miR-1297	CLIP-seq
MIRT2602819	hsa-miR-1304	CLIP-seq
MIRT2602820	hsa-miR-1322	CLIP-seq
MIRT2602821	hsa-miR-147	CLIP-seq
MIRT2602822	hsa-miR-2110	CLIP-seq
MIRT2602823	hsa-miR-2113	CLIP-seq
MIRT2602824	hsa-miR-2467-5p	CLIP-seq
MIRT2602825	hsa-miR-26a	CLIP-seq
MIRT2602826	hsa-miR-26b	CLIP-seq
MIRT2305658	hsa-miR-28-5p	CLIP-seq
MIRT2688823	hsa-miR-3120-5p	CLIP-seq
MIRT2305659	hsa-miR-3139	CLIP-seq
MIRT2602827	hsa-miR-3153	CLIP-seq
MIRT1270044	hsa-miR-3156-5p	CLIP-seq
MIRT2602829	hsa-miR-3160-3p	CLIP-seq
MIRT2305660	hsa-miR-3163	CLIP-seq
MIRT2079416	hsa-miR-3174	CLIP-seq
MIRT2079417	hsa-miR-3187-5p	CLIP-seq
MIRT2602831	hsa-miR-3188	CLIP-seq
MIRT2602836	hsa-miR-3605-5p	CLIP-seq
MIRT2602838	hsa-miR-3647-3p	CLIP-seq
MIRT2602840	hsa-miR-3657	CLIP-seq
MIRT2602841	hsa-miR-3679-5p	CLIP-seq
MIRT2688824	hsa-miR-3690	CLIP-seq
MIRT2305672	hsa-miR-3913-3p	CLIP-seq
MIRT1270026	hsa-miR-3919	CLIP-seq
MIRT2602842	hsa-miR-3929	CLIP-seq
MIRT2688825	hsa-miR-3945	CLIP-seq
MIRT2602844	hsa-miR-3975	CLIP-seq
MIRT2688826	hsa-miR-421	CLIP-seq
MIRT2688827	hsa-miR-4253	CLIP-seq
MIRT2688828	hsa-miR-4254	CLIP-seq
MIRT2602845	hsa-miR-4271	CLIP-seq
MIRT2305674	hsa-miR-4282	CLIP-seq
MIRT1270027	hsa-miR-4303	CLIP-seq
MIRT2602846	hsa-miR-4310	CLIP-seq
MIRT2602847	hsa-miR-4419b	CLIP-seq
MIRT2688829	hsa-miR-4434	CLIP-seq
MIRT2602851	hsa-miR-4465	CLIP-seq
MIRT2602852	hsa-miR-4477b	CLIP-seq
MIRT2602853	hsa-miR-4478	CLIP-seq
MIRT2079418	hsa-miR-4487	CLIP-seq
MIRT2602854	hsa-miR-4506	CLIP-seq
MIRT2688830	hsa-miR-4516	CLIP-seq
MIRT2688831	hsa-miR-4531	CLIP-seq
MIRT1270028	hsa-miR-4646-3p	CLIP-seq
MIRT1270029	hsa-miR-4649-3p	CLIP-seq
MIRT2602856	hsa-miR-4660	CLIP-seq
MIRT2602857	hsa-miR-4666-3p	CLIP-seq
MIRT2602858	hsa-miR-4669	CLIP-seq
MIRT2602859	hsa-miR-4683	CLIP-seq
MIRT2688832	hsa-miR-4693-5p	CLIP-seq
MIRT2688833	hsa-miR-4709-5p	CLIP-seq
MIRT2688834	hsa-miR-4715-3p	CLIP-seq
MIRT2602860	hsa-miR-4725-3p	CLIP-seq
MIRT2602861	hsa-miR-4729	CLIP-seq
MIRT2688835	hsa-miR-4766-5p	CLIP-seq
MIRT2602865	hsa-miR-4772-5p	CLIP-seq
MIRT2602866	hsa-miR-4775	CLIP-seq
MIRT2079420	hsa-miR-4786-5p	CLIP-seq
MIRT1270038	hsa-miR-4790-3p	CLIP-seq
MIRT2602868	hsa-miR-485-5p	CLIP-seq
MIRT2602869	hsa-miR-494	CLIP-seq
MIRT1270039	hsa-miR-511	CLIP-seq
MIRT2688836	hsa-miR-539	CLIP-seq
MIRT2688837	hsa-miR-550b	CLIP-seq
MIRT2602876	hsa-miR-558	CLIP-seq
MIRT2602878	hsa-miR-590-3p	CLIP-seq
MIRT2602879	hsa-miR-599	CLIP-seq
MIRT1270042	hsa-miR-601	CLIP-seq
MIRT2079422	hsa-miR-612	CLIP-seq
MIRT2602880	hsa-miR-620	CLIP-seq
MIRT2079423	hsa-miR-642b	CLIP-seq
MIRT2079424	hsa-miR-661	CLIP-seq
MIRT2305678	hsa-miR-708	CLIP-seq
MIRT2079425	hsa-miR-769-5p	CLIP-seq
MIRT1270053	hsa-miR-875-3p	CLIP-seq
MIRT2602881	hsa-miR-885-3p	CLIP-seq
MIRT2602882	hsa-miR-889	CLIP-seq
MIRT2079426	hsa-miR-921	CLIP-seq

Gene ontology (GO) Show/Hide all (31)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000502	Component	Proteasome complex	IDA	17323924
GO:0000502	Component	Proteasome complex	IEA
GO:0000502	Component	Proteasome complex	NAS	29636472
GO:0000502	Component	Proteasome complex	TAS	8811196
GO:0005515	Function	Protein binding	IPI	15225636, 16251969, 16990800, 17948026, 29426014, 33961781, 35271311
GO:0005576	Component	Extracellular region	TAS
GO:0005634	Component	Nucleus	HDA	21630459
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	34711951
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IDA	34711951
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005839	Component	Proteasome core complex	IDA	34711951
GO:0005839	Component	Proteasome core complex	IEA
GO:0005839	Component	Proteasome core complex	ISS
GO:0006511	Process	Ubiquitin-dependent protein catabolic process	IEA
GO:0019773	Component	Proteasome core complex, alpha-subunit complex	IBA
GO:0019773	Component	Proteasome core complex, alpha-subunit complex	IDA	30133132
GO:0019773	Component	Proteasome core complex, alpha-subunit complex	IEA
GO:0019773	Component	Proteasome core complex, alpha-subunit complex	ISS
GO:0034774	Component	Secretory granule lumen	TAS
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	IBA
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	IEA
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	NAS	19489727
GO:0051603	Process	Proteolysis involved in protein catabolic process	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867, 20458337
GO:1904813	Component	Ficolin-1-rich granule lumen	TAS

Other IDs

• MIM: 176844
• HGNC: 9534
• e!Ensembl: ENSG00000143106

Protein

• UniProt ID: P28066
• Protein name: Proteasome subunit alpha type-5 (Macropain zeta chain) (Multicatalytic endopeptidase complex zeta chain) (Proteasome subunit alpha-5) (alpha-5) (Proteasome zeta chain)
• Protein function: Component of the 20S core proteasome complex involved in the proteolytic degradation of most intracellular proteins. This complex plays numerous essential roles within the cell by associating with different regulatory particles. Associated with
• PDB: 4R3O , 4R67 , 5A0Q , 5GJQ , 5GJR , 5L4G , 5LE5 , 5LEX , 5LEY , 5LEZ , 5LF0 , 5LF1 , 5LF3 , 5LF4 , 5LF6 , 5LF7 , 5LN3 , 5M32 , 5T0C , 5T0G , 5T0H , 5T0I , 5T0J , 5VFO , 5VFP , 5VFQ , 5VFR , 5VFS , 5VFT , 5VFU , 6AVO , 6E5B , 6KWY , 6MSB , 6MSD , 6MSE , 6MSG , 6MSH , 6MSJ , 6MSK , 6R70 , 6REY , 6RGQ , 6WJD , 6WJN , 6XMJ , 7AWE , 7B12 , 7LXV , 7NAN , 7NAO
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00227	Proteasome	31 → 220	Proteasome subunit	Domain
  PF10584	Proteasome_A_N	8 → 30	Proteasome subunit A N-terminal signature	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed in fetal brain (at protein level). {ECO:0000269|PubMed:11771738}.
• Sequence:

  MFLTRSEYDRGVNTFSPEGRLFQVEYAIEAIKLGSTAIGIQTSEGVCLAVEKRITSPLME
  PSSIEKIVEIDAHIGCAMSGLIADAKTLIDKARVETQNHWFTYNETMTVESVTQAVSNLA
  LQFGEEDADPGAMSRPFGVALLFGGVDEKGPQLFHMDPSGTFVQCDARAIGSASEGAQSS
  LQEVYHKSMTLKEAIKSSLIILKQVMEEKLNATNIELATVQPGQNFHMFTKEELEEVIKD
  I

• Sequence length: 241

Pathways

KEGG Pathway	Reactome Pathway
Proteasome	Activation of NF-kappaB in B cells
Alzheimer disease	Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha
Parkinson disease	Cross-presentation of soluble exogenous antigens (endosomes)
Amyotrophic lateral sclerosis	Autodegradation of Cdh1 by Cdh1:APC/C
Huntington disease	SCF-beta-TrCP mediated degradation of Emi1
Spinocerebellar ataxia	APC/C:Cdc20 mediated degradation of Securin
Prion disease	APC/C:Cdh1 mediated degradation of Cdc20 and other APC/C:Cdh1 targeted proteins in late mitosis/early G1
Pathways of neurodegeneration - multiple diseases	Cdc20:Phospho-APC/C mediated degradation of Cyclin A
	Vpu mediated degradation of CD4
	Vif-mediated degradation of APOBEC3G
	SCF(Skp2)-mediated degradation of p27/p21
	Degradation of beta-catenin by the destruction complex
	Downstream TCR signaling
	Separation of Sister Chromatids
	FCERI mediated NF-kB activation
	Autodegradation of the E3 ubiquitin ligase COP1
	Regulation of ornithine decarboxylase (ODC)
	ABC-family proteins mediated transport
	AUF1 (hnRNP D0) binds and destabilizes mRNA
	Asymmetric localization of PCP proteins
	Degradation of AXIN
	Degradation of DVL
	Hedgehog ligand biogenesis
	Hh mutants that don't undergo autocatalytic processing are degraded by ERAD
	Dectin-1 mediated noncanonical NF-kB signaling
	CLEC7A (Dectin-1) signaling
	Degradation of GLI1 by the proteasome
	GLI3 is processed to GLI3R by the proteasome
	Hedgehog 'on' state
	Regulation of RAS by GAPs
	TNFR2 non-canonical NF-kB pathway
	NIK-->noncanonical NF-kB signaling
	Defective CFTR causes cystic fibrosis
	MAPK6/MAPK4 signaling
	UCH proteinases
	Ub-specific processing proteases
	Neutrophil degranulation
	CDT1 association with the CDC6:ORC:origin complex
	Orc1 removal from chromatin
	CDK-mediated phosphorylation and removal of Cdc6
	G2/M Checkpoints
	Ubiquitin Mediated Degradation of Phosphorylated Cdc25A
	Ubiquitin-dependent degradation of Cyclin D
	The role of GTSE1 in G2/M progression after G2 checkpoint
	FBXL7 down-regulates AURKA during mitotic entry and in early mitosis
	RUNX1 regulates transcription of genes involved in differentiation of HSCs
	Regulation of RUNX2 expression and activity
	Regulation of RUNX3 expression and activity
	Regulation of PTEN stability and activity
	Neddylation
	Interleukin-1 signaling
	Antigen processing: Ubiquitination & Proteasome degradation

Associated diseases

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)

Unknown / Other Associations Show/Hide Unknown Diseases (6)
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	35764056	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	GWAS catalog	35764056	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC KIDNEY DISEASE	—	GWAS catalog	20383146	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FATTY LIVER	—	CTD, Disgenet CTD, Disgenet	25226513	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FATTY LIVER, ALCOHOLIC	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOPOROSIS	—	CTD, Disgenet CTD, Disgenet	18924182	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining Show/Hide Text Mining Associations (28)
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
alpha-Thalassemia	alpha Thalassemia	BEFREE	3756105, 7672089		★☆☆☆☆ Found in Text Mining only
alpha^+^ Thalassemia	alpha Thalassemia	BEFREE	3756105		★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	BEFREE	18003890		★☆☆☆☆ Found in Text Mining only
beta Thalassemia	beta Thalassemia	BEFREE	9267896		★☆☆☆☆ Found in Text Mining only
beta^+^ Thalassemia	beta Thalassemia	BEFREE	9267896		★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	9121309		★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	LHGDN	11771738		★☆☆☆☆ Found in Text Mining only
Exfoliation Syndrome	Exfoliation Syndrome	BEFREE	30738879		★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	CTD_human_DG	25226513		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hematological Disease	Hematological Disease	BEFREE	18854088		★☆☆☆☆ Found in Text Mining only

Related Genes

Sort by: Blended Diseases Pathways Evidence source

DHRS7 2 shared diseasesFatty liver, Fatty liver, alcoholic 3 shared evidence sourcesDisgenet (Fatty liver), CTD (Fatty liver), Disgenet (Fatty liver, alcoholic) Related via 2 shared diseases including Fatty liver, Fatty liver, alcoholic — evidence mostly Disgenet. HAS3 2 shared diseasesFatty liver, Fatty liver, alcoholic 3 shared evidence sourcesDisgenet (Fatty liver), CTD (Fatty liver), Disgenet (Fatty liver, alcoholic) Related via 2 shared diseases including Fatty liver, Fatty liver, alcoholic — evidence mostly Disgenet. PLIN2 2 shared diseasesFatty liver, Fatty liver, alcoholic 3 shared evidence sourcesDisgenet (Fatty liver), CTD (Fatty liver), Disgenet (Fatty liver, alcoholic) Related via 2 shared diseases including Fatty liver, Fatty liver, alcoholic — evidence mostly Disgenet. CA3 2 shared diseasesFatty liver, Fatty liver, alcoholic 2 shared evidence sourcesDisgenet (Fatty liver), Disgenet (Fatty liver, alcoholic) Related via 2 shared diseases including Fatty liver, Fatty liver, alcoholic — evidence mostly Disgenet. ATP5IF1 2 shared diseasesFatty liver, Fatty liver, alcoholic 3 shared evidence sourcesDisgenet (Fatty liver), CTD (Fatty liver), Disgenet (Fatty liver, alcoholic) Related via 2 shared diseases including Fatty liver, Fatty liver, alcoholic — evidence mostly Disgenet.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
DHRS7	2	["Fatty liver","Fatty liver, alcoholic"]	0	[]	3	["Disgenet (Fatty liver)","CTD (Fatty liver)","Disgenet (Fatty liver, alcoholic)"]
HAS3	2	["Fatty liver","Fatty liver, alcoholic"]	0	[]	3	["Disgenet (Fatty liver)","CTD (Fatty liver)","Disgenet (Fatty liver, alcoholic)"]
PLIN2	2	["Fatty liver","Fatty liver, alcoholic"]	0	[]	3	["Disgenet (Fatty liver)","CTD (Fatty liver)","Disgenet (Fatty liver, alcoholic)"]
CA3	2	["Fatty liver","Fatty liver, alcoholic"]	0	[]	2	["Disgenet (Fatty liver)","Disgenet (Fatty liver, alcoholic)"]
ATP5IF1	2	["Fatty liver","Fatty liver, alcoholic"]	0	[]	3	["Disgenet (Fatty liver)","CTD (Fatty liver)","Disgenet (Fatty liver, alcoholic)"]

Diseases Linked via Similar Genes

Atrial fibrillation Linked via 1 of 5 related genesHAS3 Stomach neoplasms Linked via 1 of 5 related genesPLIN2 Obesity Linked via 1 of 5 related genesCA3 Carcinoma Linked via 1 of 5 related genesATP5IF1

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Atrial fibrillation	1	["HAS3"]
Stomach neoplasms	1	["PLIN2"]
Obesity	1	["CA3"]
Carcinoma	1	["ATP5IF1"]