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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	389856
Gene name	Ubiquitin specific peptidase 27 X-linked
Gene symbol	USP27X
Synonyms (NCBI Gene)	MRX105USP22LUSP27XLID105
Chromosome	X
Chromosome location	Xp11.23
Summary	This gene encodes a member of the peptidase protein family. The encoded protein functions as a deubiquitinase that is involved in upregulation of the pro-apoptotic Bim protein. This protein may act as a tumor suppressor by increasing levels of Bim to coun

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SNP ID	Visualize variation	Clinical significance	Consequence
rs886038211	T>C	Pathogenic	Missense variant, coding sequence variant

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miRTarBase ID	miRNA	Experiments	Reference
MIRT609441	hsa-miR-8485	HITS-CLIP	23824327
MIRT609440	hsa-miR-603	HITS-CLIP	23824327
MIRT609439	hsa-miR-302c-5p	HITS-CLIP	23824327
MIRT609438	hsa-miR-552-5p	HITS-CLIP	23824327
MIRT609441	hsa-miR-8485	HITS-CLIP	23824327
MIRT609440	hsa-miR-603	HITS-CLIP	23824327
MIRT609439	hsa-miR-302c-5p	HITS-CLIP	23824327
MIRT609438	hsa-miR-552-5p	HITS-CLIP	23824327
MIRT609439	hsa-miR-302c-5p	HITS-CLIP	27418678
MIRT609439	hsa-miR-302c-5p	HITS-CLIP	27418678
MIRT609438	hsa-miR-552-5p	HITS-CLIP	27418678
MIRT609438	hsa-miR-552-5p	HITS-CLIP	27418678
MIRT609441	hsa-miR-8485	HITS-CLIP	27418678
MIRT609441	hsa-miR-8485	HITS-CLIP	27418678
MIRT609441	hsa-miR-8485	HITS-CLIP	23824327
MIRT609440	hsa-miR-603	HITS-CLIP	23824327
MIRT609439	hsa-miR-302c-5p	HITS-CLIP	23824327
MIRT609438	hsa-miR-552-5p	HITS-CLIP	23824327
MIRT609441	hsa-miR-8485	HITS-CLIP	23824327
MIRT609440	hsa-miR-603	HITS-CLIP	23824327
MIRT609439	hsa-miR-302c-5p	HITS-CLIP	23824327
MIRT609438	hsa-miR-552-5p	HITS-CLIP	23824327
MIRT1478457	hsa-miR-4446-5p	CLIP-seq
MIRT1922469	hsa-miR-1260	CLIP-seq
MIRT1922470	hsa-miR-1260b	CLIP-seq
MIRT1922471	hsa-miR-188-3p	CLIP-seq
MIRT1922472	hsa-miR-3156-3p	CLIP-seq
MIRT1922473	hsa-miR-4443	CLIP-seq
MIRT1922474	hsa-miR-765	CLIP-seq
MIRT2144113	hsa-miR-3160-5p	CLIP-seq
MIRT2144114	hsa-miR-4436b-5p	CLIP-seq
MIRT2144115	hsa-miR-485-3p	CLIP-seq
MIRT2144116	hsa-miR-544	CLIP-seq
MIRT2144117	hsa-miR-578	CLIP-seq
MIRT2144118	hsa-miR-660	CLIP-seq
MIRT2144115	hsa-miR-485-3p	CLIP-seq
MIRT2144118	hsa-miR-660	CLIP-seq

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GO ID	Ontology	Definition	Evidence	Reference
GO:0002376	Process	Immune system process	IEA
GO:0004197	Function	Cysteine-type endopeptidase activity	IDA	31534008, 32027733
GO:0004843	Function	Cysteine-type deubiquitinase activity	IEA
GO:0004843	Function	Cysteine-type deubiquitinase activity	ISS
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IEA
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:0016579	Process	Protein deubiquitination	ISS
GO:0016787	Function	Hydrolase activity	IEA
GO:0043065	Process	Positive regulation of apoptotic process	IEA
GO:0043065	Process	Positive regulation of apoptotic process	ISS
GO:0045087	Process	Innate immune response	IEA
GO:0050821	Process	Protein stabilization	IDA	31534008
GO:0050821	Process	Protein stabilization	IEA
GO:0050821	Process	Protein stabilization	ISS
GO:0051607	Process	Defense response to virus	IMP	31534008
GO:0060340	Process	Positive regulation of type I interferon-mediated signaling pathway	IDA	31534008
GO:0061578	Function	K63-linked deubiquitinase activity	IEA
GO:0061578	Function	K63-linked deubiquitinase activity	ISS
GO:0070536	Process	Protein K63-linked deubiquitination	IEA
GO:0070536	Process	Protein K63-linked deubiquitination	ISS
GO:0071108	Process	Protein K48-linked deubiquitination	IDA	31534008
GO:0071108	Process	Protein K48-linked deubiquitination	IEA
GO:0071108	Process	Protein K48-linked deubiquitination	ISS
GO:1990380	Function	K48-linked deubiquitinase activity	IEA
GO:1990380	Function	K48-linked deubiquitinase activity	ISS

MIM	HGNC	e!Ensembl
300975	13486	ENSG00000273820

A6NNY8

Protein name

Ubiquitin carboxyl-terminal hydrolase 27 (EC 3.4.19.12) (Deubiquitinating enzyme 27) (Ubiquitin carboxyl-terminal hydrolase 22-like) (Ubiquitin thioesterase 27) (Ubiquitin-specific-processing protease 27) (X-linked ubiquitin carboxyl-terminal hydrolase 27

Protein function

Deubiquitinase involved in innate antiviral immunity by mediating deubiquitination of CGAS and RIGI (PubMed:31534008, PubMed:32027733). Negatively regulates RIGI by mediating 'Lys-63'-linked deubiquitination of RIGI, inhibiting type I interferon

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00443	UCH	78 → 418	Ubiquitin carboxyl-terminal hydrolase	Family

Sequence

MCKDYVYDKDIEQIAKEEQGEALKLQASTSTEVSHQQCSVPGLGEKFPTWETTKPELELL
GHNPRRRRITSSFTIGLRGLINLGNTCFMNCIVQALTHTPILRDFFLSDRHRCEMPSPEL
CLVCEMSSLFRELYSGNPSPHVPYKLLHLVWIHARHLAGYRQQDAHEFLIAALDVLHRHC
KGDDVGKAANNPNHCNCIIDQIFTGGLQSDVTCQACHGVSTTIDPCWDISLDLPGSCTSF
WPMSPGRESSVNGESHIPGITTLTDCLRRFTRPEHLGSSAKIKCGSCQSYQESTKQLTMN
KLPVVACFHFKRFEHSAKQRRKITTYISFPLELDMTPFMASSKESRMNGQLQLPTNSGNN
ENKYSLFAVVNHQGTLESGHYTSFIRHHKDQWFKCDDAVITKASIKDVLDSEGYLLFYHK
QVLEHESEKVKEMNTQAY

Sequence length

438

Interactions

View interactions

Show/Hide Causal Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Intellectual disability	Pathogenic	rs1601932069	RCV000850215
Intellectual disability, X-linked 105	Likely pathogenic; Pathogenic	rs2147224405, rs2519167657, rs2519167465, rs2519167013, rs886038210, rs886038211, rs2519167480	RCV003223428 RCV003223463 RCV003223464 RCV003223465 RCV000244566 RCV000249317 RCV003482888
Neurodevelopmental disorder	Likely pathogenic; Pathogenic	rs2147224405	RCV001780045

Show/Hide Unknown Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
USP27X-related disorder	Uncertain significance; Benign	rs2519167317, rs2519167495, rs188199174	RCV003391607 RCV003899248 RCV003960846

Show/Hide Text Mining Associations (9)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Breast Neoplasms	Associate	36001804, 38030604
Carcinogenesis	Associate	35018513
Carcinogenesis	Inhibit	38030604
Carcinoma Hepatocellular	Associate	35018513
Intellectual Disability	Associate	38182161, 38273165
Melanoma	Associate	35044632
Neoplasms	Associate	35018513, 36001804
Neurologic Manifestations	Associate	38273165
Pathological Conditions Signs and Symptoms	Associate	38273165

USP27X (ubiquitin specific peptidase 27 X-linked)