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

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 (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Intellectual disability	Pathogenic	rs1601932069	RCV000850215	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability, X-linked 105	Likely pathogenic; Pathogenic	rs2147224405, rs2519167657, rs2519167465, rs2519167013, rs886038210, rs886038211, rs2519167480	RCV003223428 RCV003223463 RCV003223464 RCV003223465 RCV000244566 RCV000249317 RCV003482888 View all (2 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Neurodevelopmental disorder	Likely pathogenic; Pathogenic	rs2147224405	RCV001780045	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (8)

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.
INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 105	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL RETARDATION, X-LINKED NONSYNDROMIC	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SYNDROMIC X-LINKED INTELLECTUAL DISABILITY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
USP27X-related disorder	Uncertain significance; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
X-LINKED INTELLECTUAL DISABILITY	—	ClinGen, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
X-LINKED NON-SYNDROMIC INTELLECTUAL DISABILITY	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (30)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
2-3 toe syndactyly	Syndactyly Of The Toes	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Autistic behavior	Autism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	36001804, 38030604	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	35018513	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	38030604	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	35018513	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Facial paralysis	Facial paralysis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	GENOMICS_ENGLAND_DG	25644381		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Intellectual developmental disorder	Pubtator	38182161, 38273165	Associate	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Liver carcinoma	Liver carcinoma	BEFREE	29497124		★★★★★ ★☆☆☆☆ Found in Text Mining only
Macrocephaly	Macrocephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Meckel Diverticulum	Meckel Diverticulum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	27013495		★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	35044632	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental Retardation, X-Linked 1	Mental Retardation, X-Linked	ORPHANET_DG	25644381		★★★★★ ★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, X-LINKED 105	Mental Retardation, X-Linked	GENOMICS_ENGLAND_DG	25644381		★★★★★ ★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, X-LINKED 105	Mental Retardation, X-Linked	UNIPROT_DG	25644381		★★★★★ ★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, X-LINKED 105	Mental Retardation, X-Linked	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, X-LINKED 105	Mental Retardation, X-Linked	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Mild neurosensory hearing impairment	Neurosensory Hearing impairment	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Moderate intellectual disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	27013495, 27132940, 30341066		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	27013495		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Tonic - clonic seizures	Seizure	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
X-linked non-syndromic intellectual disability	Non-Syndromic Intellectual Disability, X-Linked	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

USP27X (ubiquitin specific peptidase 27 X-linked)