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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	389856
Gene name Gene Name - the full gene name approved by the HGNC.	Ubiquitin specific peptidase 27 X-linked
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	USP27X
Synonyms (NCBI Gene) Gene synonyms aliases	MRX105, USP22L, USP27, XLID105
Disease Acronyms (UniProt) Disease acronyms from UniProt database	XLID105
Chromosome Chromosome number	X
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	Xp11.23
Summary Summary of gene provided in NCBI Entrez Gene.	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

Show/Hide all(37)

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
GO:0004843	Function	Thiol-dependent ubiquitin-specific protease activity	ISS
GO:0005634	Component	Nucleus	IEA
GO:0005829	Component	Cytosol	IEA
GO:0006511	Process	Ubiquitin-dependent protein catabolic process	IEA
GO:0008234	Function	Cysteine-type peptidase activity	IEA
GO:0016579	Process	Protein deubiquitination	ISS
GO:0018215	Process	Protein phosphopantetheinylation	IEA
GO:0043065	Process	Positive regulation of apoptotic process	ISS
GO:0050821	Process	Protein stabilization	ISS
GO:0061578	Function	Lys63-specific deubiquitinase activity	ISS
GO:0070536	Process	Protein K63-linked deubiquitination	ISS
GO:0071108	Process	Protein K48-linked deubiquitination	ISS
GO:1990380	Function	Lys48-specific deubiquitinase activity	ISS

MIM	HGNC	e!Ensembl
300975	13486	ENSG00000273820

Protein

UniProt ID

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 (8)

Disease term	Disease name	dbSNP ID	References
Causal
Attention deficit hyperactivity disorder	Attention deficit hyperactivity disorder	rs786205019
Autism	Autistic behavior	rs121964908, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699 View all (8 more)
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291 View all (32 more)
Mental retardation	Severe intellectual disability, Moderate intellectual disability, Intellectual Disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315 View all (1024 more)	25644381
Macrocephaly	Macrocephaly	rs786204854, rs764333096, rs1557739557
Mental retardation, x-linked	Mental Retardation, X-Linked 1, MENTAL RETARDATION, X-LINKED 105	rs1603009115, rs199422240, rs199422234, rs782600511, rs199422235, rs199422236, rs199422237, rs199422238, rs199422239, rs2147483647, rs137852561, rs104894952, rs137852350, rs137852351, rs137852352 View all (405 more)	25644381
Obesity	Obesity	rs74315349, rs1474810899, rs121918111, rs796065034, rs753856820, rs796065035, rs121918112, rs104894023, rs137852821, rs1580764441, rs137852822, rs137852823, rs137852824, rs13447324, rs121913562 View all (27 more)
Seizure	Tonic - clonic seizures	rs587784365, rs28939683, rs74315390, rs28939684, rs74315391, rs267607198, rs74315392, rs118192244, rs118192250, rs121917749, rs121917750, rs121917751, rs121917752, rs267606670, rs267607061 View all (179 more)

Show/Hide Text Mining Associations (9)

Disease Name	Relationship Type	References
Associations from Text Mining
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)