USP43 (ubiquitin specific peptidase 43)

Gene

• Entrez ID: 124739
• Gene name: Ubiquitin specific peptidase 43
• Gene symbol: USP43
• Synonyms (NCBI Gene): -
• Chromosome: 17
• Chromosome location: 17p13.1

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1479741	hsa-miR-146b-3p	CLIP-seq
MIRT1479742	hsa-miR-200b	CLIP-seq
MIRT1479743	hsa-miR-200c	CLIP-seq
MIRT1479744	hsa-miR-3157-3p	CLIP-seq
MIRT1479745	hsa-miR-3173-5p	CLIP-seq
MIRT1479746	hsa-miR-4277	CLIP-seq
MIRT1479747	hsa-miR-429	CLIP-seq
MIRT1479748	hsa-miR-4490	CLIP-seq
MIRT1479749	hsa-miR-4738-3p	CLIP-seq
MIRT1479750	hsa-miR-4777-5p	CLIP-seq
MIRT1479751	hsa-miR-4802-5p	CLIP-seq
MIRT1479752	hsa-miR-582-3p	CLIP-seq
MIRT1479753	hsa-miR-874	CLIP-seq
MIRT2144440	hsa-miR-1183	CLIP-seq
MIRT2144441	hsa-miR-1286	CLIP-seq
MIRT2144442	hsa-miR-1322	CLIP-seq
MIRT2144443	hsa-miR-4476	CLIP-seq
MIRT2144444	hsa-miR-4722-5p	CLIP-seq
MIRT2144445	hsa-miR-548g	CLIP-seq
MIRT2144442	hsa-miR-1322	CLIP-seq
MIRT2364662	hsa-miR-34c-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004843	Function	Cysteine-type deubiquitinase activity	IEA
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0006508	Process	Proteolysis	IEA
GO:0008233	Function	Peptidase activity	IEA
GO:0008234	Function	Cysteine-type peptidase activity	IEA
GO:0016579	Process	Protein deubiquitination	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0019783	Function	Ubiquitin-like protein peptidase activity	IEA
GO:0019785	Function	ISG15-specific peptidase activity	TAS
GO:0019985	Process	Translesion synthesis	TAS

Other IDs

• MIM: HGNC
• HGNC: N/A
• e!Ensembl: HGNC

Protein

• UniProt ID: Q70EL4
• Protein name: Ubiquitin carboxyl-terminal hydrolase 43 (EC 3.4.19.12) (Deubiquitinating enzyme 43) (Ubiquitin thioesterase 43) (Ubiquitin-specific-processing protease 43)
• Protein function: May recognize and hydrolyze the peptide bond at the C-terminal Gly of ubiquitin. Involved in the processing of poly-ubiquitin precursors as well as that of ubiquitinated proteins (By similarity).
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00443	UCH	101 → 707	Ubiquitin carboxyl-terminal hydrolase	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed in brain, aorta and lung at low levels. {ECO:0000269|PubMed:14715245}.
• Sequence:

  MDLGPGDAAGGGPLAPRPRRRRSLRRLFSRFLLALGSRSRPGDSPPRPQPGHCDGDGEGG
  FACAPGPVPAAPGSPGEERPPGPQPQLQLPAGDGARPPGAQGLKNHGNTCFMNAVVQCLS
  NTDLLAEFLALGRYRAAPGRAEVTEQLAALVRALWTREYTPQLSAEFKNAVSKYGSQFQG
  NSQHDALEFLLWLLDRVHEDLEGSSRGPVSEKLPPEATKTSENCLSPSAQLPLGQSFVQS
  HFQAQYRSSLTCPHCLKQSNTFDPFLCVSLPIPLRQTRFLSVTLVFPSKSQRFLRVGLAV
  PILSTVAALRKMVAEEGGVPADEVILVELYPSGFQRSFFDEEDLNTIAEGDNVYAFQVPP
  SPSQGTLSAHPLGLSASPRLAAREGQRFSLSLHSESKVLILFCNLVGSGQQASRFGPPFL
  IREDRAVSWAQLQQSILSKVRHLMKSEAPVQNLGSLFSIRVVGLSVACSYLSPKDSRPLC
  HWAVDRVLHLRRPGGPPHVKLAVEWDSSVKERLFGSLQEERAQDADSVWQQQQAHQQHSC
  TLDECFQFYTKEEQLAQDDAWKCPHCQVLQQGMVKLSLWTLPDILIIHLKRFCQVGERRN
  KLSTLVKFPLSGLNMAPHVAQRSTSPEAGLGPWPSWKQPDCLPTSYPLDFLYDLYAVCNH
  HGNLQGGHYTAYCRNSLDGQWYSYDDSTVEPLREDEVNTRGAYILFYQKRNSIPPWSASS
  SMRGSTSSSLSDHWLLRLGSHAGSTRGSLLSWSSAPCPSLPQVPDSPIFTNSLCNQEKGG
  LEPRRLVRGVKGRSISMKAPTTSRAKQGPFKTMPLRWSFGSKEKPPGASVELVEYLESRR
  RPRSTSQSIVSLLTGTAGEDEKSASPRSNVALPANSEDGGRAIERGPAGVPCPSAQPNHC
  LAPGNSDGPNTARKLKENAGQDIKLPRKFDLPLTVMPSVEHEKPARPEGQKAMNWKESFQ
  MGSKSSPPSPYMGFSGNSKDSRRGTSELDRPLQGTLTLLRSVFRKKENRRNERAEVSPQV
  PPVSLVSGGLSPAMDGQAPGSPPALRIPEGLARGLGSRLERDVWSAPSSLRLPRKASRAP
  RGSALGMSQRTVPGEQASYGTFQRVKYHTLSLGRKKTLPESSF

• Sequence length: 1123

Pathways

Reactome:

Termination of translesion DNA synthesis

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
Phenotype Name	Clinical Significance	Source	Evidence Score
CONGENITAL HEART DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEMENTIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Relationship Type	References	Evidence Score
Breast Neoplasms	Associate	36137995	★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Associate	38087046	★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Associate	37050932	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Associate	35321978	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Associate	35321978	★☆☆☆☆ Found in Text Mining only
Neoplasm Metastasis	Associate	36137995	★☆☆☆☆ Found in Text Mining only
Neoplasms	Associate	35321978, 38087046	★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Associate	38087046	★☆☆☆☆ Found in Text Mining only