TRIM8 - tripartite motif containing 8 Gene

Also Known as GERP; RNF27; FSGSNEDS

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 81603

About TRIM8

Cytogenetic location: 10q24.32 Genomic coordinates (GRCh38): 10:102,644,479-102,658,319 (from NCBI)

This gene has 15 transcripts (splice variants), 265 orthologues, 80 paralogues and is associated with 3 phenotypes. Ubiquitous expression in kidney (RPKM 42.3), fat (RPKM 41.8) and 25 other tissues.

Summary

This gene encodes a member of the tripartite motif (TRIM) protein family. Based on similarities to Other proteins, the encoded protein is suspected to be an E3 ubiquitin-protein Ligase. Regulation of this gene may be altered in some cancers. Mutations resulting in a truncated protein product have been observed in early-onset epileptic encephalopathy (EOEE). [provided by RefSeq, Sep 2016]

TRIM8 Products (2)

mRNA	Protein	Name
NM_001345950.1	NP_001332879.1	E3 ubiquitin-protein ligase TRIM8 isoform 2
NM_030912.3	NP_112174.2	E3 ubiquitin-protein ligase TRIM8 isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables identical protein binding	IPI IPI: Inferred from physical interaction	22493164	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	19549727	GOA
enables protein homodimerization activity	IPI IPI: Inferred from physical interaction	11331580	GOA
enables transcription coactivator activity	IDA IDA: Inferred from direct assay	23077300	GOA
enables ubiquitin protein ligase activity	IDA IDA: Inferred from direct assay	27995356	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in canonical NF-kappaB signal transduction	IDA IDA: Inferred from direct assay	27995356	GOA
involved in innate immune response	IDA IDA: Inferred from direct assay	18248090	GOA
involved in positive regulation of DNA-binding transcription factor activity	IDA IDA: Inferred from direct assay	23077300	GOA
involved in positive regulation of NF-kappaB transcription factor activity	IDA IDA: Inferred from direct assay	23077300	GOA
involved in positive regulation of autophagy	IMP IMP: Inferred from mutant phenotype	26347139	GOA
involved in positive regulation of canonical NF-kappaB signal transduction	IDA IDA: Inferred from direct assay	23077300	GOA
involved in protein K63-linked ubiquitination	IDA IDA: Inferred from direct assay	27995356	GOA
involved in suppression of viral release by host	IDA IDA: Inferred from direct assay	18248090	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in PML body	IDA IDA: Inferred from direct assay	11331580	GOA
is active in cytoplasm	IDA IDA: Inferred from direct assay	23152791	GOA
located in nucleus	IMP IMP: Inferred from mutant phenotype	33508234	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

TRIM8 Protein Structure

zf-C3HC4_4

0
100
200
300
400
500
551 a.a.

Protein Preferred Names	Protein Names
E3 ubiquitin-protein ligase TRIM8	RING-type E3 ubiquitin transferase TRIM8

TRIM8 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	TRIM8	Q9BZR9	FAM124B	Homo sapiens	Q9H5Z6-2	Validated Y2H	32296183
Intra	TRIM8	Q9BZR9	TRIM8	Homo sapiens	Q9BZR9	Y2H	22829933
Intra	TRIM8	Q9BZR9	TRIM8	Homo sapiens	Q9BZR9	Anti Tag CoIP	22493164
Intra	TRIM8	Q9BZR9	UBE2D4	Homo sapiens	Q9Y2X8	Validated Y2H	32296183
Intra	TRIM8	Q9BZR9	TRIM8	Homo sapiens	Q9BZR9	Y2H Array	22493164
Intra	TRIM8	Q9BZR9	YOD1	Homo sapiens	Q5VVQ6	Y2H Prey Pooling	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	FSGSNEDS
Early Infantile Epileptic Encephalopathy	Early Infantile Epileptic Encephalopathy With Burst-Suppression Early Infantile Epileptic Encephalopathy With Suppression Bursts Eiee Early Infantile Epileptic Encephalopathy With Suppression-Bursts Ohtahara Syndrome Encephalopathy, Epileptic, Early Infantile
Focal Segmental Glomerulosclerosis	Familial Idiopathic Steroid-Resistant Nephrotic Syndrome Focal Glomerulosclerosis Fsgs Segmental Glomerulosclerosis Glomerulosclerosis, Focal Segmental Fgs Focal Glomerular Sclerosis Familial Idiopathic Nephrotic Syndrome Focal Sclerosis With Hyalinosis Glomerulosclerosis, Focal Glomerulosclerosis Focal Glomerulosclerosis, Segmental, Focal Focal Segmental Glomerulosclerosis, Not Otherwise Specified
Developmental And Epileptic Encephalopathy 94	Epileptic Encephalopathy, Childhood-Onset Eeoc DEE94 Childhood Onset Epileptic Encephalopathy Encephalopathy, Epileptic, Childhood-Onset
Myoclonic Epilepsy, Juvenile 4	EJM4 Myoclonic Epilepsy, Juvenile, Susceptibility To, 4 Myoclonic Epilepsy, Juvenile, 4 Juvenile Myoclonic Epilepsy 4
Retinitis Pigmentosa 77	RP77 Retinitis Pigmentosa, Type 77
Autosomal Recessive Nonsyndromic Deafness 32	Deafness, Autosomal Recessive 32 Autosomal Recessive Deafness 105 Autosomal Recessive Deafness 32 Dfnb32 Hearing Impairment Infertile Male Syndrome Hiims Deafness, Autosomal Recessive, Type 32
Geleophysic Dysplasia 2	GPHYSD2 Geleophysic Dwarfism Dysplasia, Geleophysic, Type 2 Geleophysic Dysplasia
Myasthenic Syndrome, Congenital, 11, Associated With Acetylcholine Receptor Deficiency	Congenital Myasthenic Syndrome 11 CMS11 Cms Ie Cms1e Myasthenic Syndrome, Congenital, Ie Myasthenic Syndrome, Congenital, Ie, Formerly Cms1e, Formerly Cms Ie, Formerly Congenital Myasthenic Syndrome 11 Associated With Acetylcholine Receptor Deficiency Congenital Myasthenic Syndrome 1e Myasthenic Syndrome, Congenital, Type 11, Associated With Acetylcholine Receptor Deficiency
Alternating Esotropia
Pontocerebellar Hypoplasia, Type 2d	Pontocerebellar Hypoplasia Type 2d Pcca PCH2D Progressive Cerebello-Cerebral Atrophy Cerebellocerebral Atrophy, Progressive Pontocerebellar Hypoplasia 2d Progressive Cerebellocerebral Atrophy Hypoplasia, Pontocerebellar, Type 2d
Lethal Congenital Contracture Syndrome 4	LCCS4 Contracture Syndrome, Lethal, Congenital, Type 4
Sweeney-Cox Syndrome	SWCOS
Larsen-Like Syndrome B3gat3 Type	Larsen-Like Syndrome, B3gat3 Type Multiple Joint Dislocations-Short Stature-Craniofacial Dysmorphism-Congenital Heart Defects Syndrome Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Congenital Heart Defects Joint Dislocations, Multiple, Short Stature, Craniofacial Dysmorphism, Congenital Heart Defects
Glioblastoma	Glioblastoma Multiforme Gbm Adult Glioblastoma Multiforme Grade Iv Adult Astrocytic Tumor Primary Glioblastoma Multiforme Spongioblastoma Multiforme Adult Glioblastoma Primary Glioblastoma
Deafness, Autosomal Recessive 110	DFNB110 Autosomal Recessive Nonsyndromic Deafness 110 Autosomal Recessive Deafness 110 Deafness, Autosomal Recessive, 110
Esotropia	Convergence In Manifest Squint Crossed Eyes Internal Strabismus Convergent Concomitant Strabismus Convergent Squint Convergent Strabismus Cross-Eye
Ciliary Dyskinesia, Primary, 4	Primary Ciliary Dyskinesia 4 CILD4 Ciliary Dyskinesia, Primary, 4, With Or Without Situs Inversus Primary Ciliary Dyskinesia 4 With Or Without Situs Inversus Primary Ciliary Dyskinesia, 4
Ciliary Dyskinesia, Primary, 8	Primary Ciliary Dyskinesia 8 CILD8 Ciliary Dyskinesia, Primary, 8, With Or Without Situs Inversus Primary Ciliary Dyskinesia 8 With Or Without Situs Inversus
Developmental And Epileptic Encephalopathy 11	Epileptic Encephalopathy, Early Infantile, 11 DEE11 Eiee11 Developmental And Epileptic Encephalopathy, 11 Early Infantile Epileptic Encephalopathy 11 Encephalopathy, Developmental And Epileptic, Type 11
Strabismus	Strabismus, Susceptibility To Strabismus, Susceptibility To, 1 Strabismus 1
West Syndrome	Infantile Spasms Infantile Spasms Syndrome Infantile Spasm X-Linked Infantile Spasm Syndrome X-Linked Infantile Spasms Epileptic Encephalopathy, Early Infantile, 1 Is Tonic Spasms With Clustering, Arrest Of Psychomotor Development And Hypsarrhythmia On Eeg West'S Syndrome Spasms, Infantile Is -[Infantile Spasm] Salaam Spasm Salaam Tic
Hereditary Spastic Paraplegia	Familial Spastic Paraplegia Hereditary Spastic Paraparesis Strumpell-Lorrain Disease Familial Spastic Paraparesis Hsp Spg Strümpell-Lorrain Disease Spastic Paraplegia, Hereditary French Settlement Disease Strumpell-Lorrain Syndrome Fsp Spastic Paraplegia, Familial Spastic Paraplegia Hereditary Spastic Paraplegia 3, Autosomal Dominant Spastic Paraparesis Hereditary Spastic Paralysis Familial Spastic Paralysis Hereditary Spastic Ataxia
Congenital Nervous System Abnormality	Congenital Neurologic Anomaly Congenital Nervous System Disorder
Fundus Dystrophy	Retinal Dystrophy Retinal Dystrophies Dystrophy, Retinal
Retinitis Pigmentosa	RP Rod-Cone Dystrophy Autosomal Recessive Retinitis Pigmentosa Non-Syndromic Retinitis Pigmentosa Pericentral Pigmentary Retinopathy Pigmentary Retinopathy Tapetoretinal Degeneration Rcd Retinitis Pigmentosa Autosomal Recessive ARRP Retinitis Pigmentosa, Autosomal Recessive Retinitis Pigmentosa 1

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS15072	TRIM8 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS21796	Trim8 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS28312	Trim8 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	TRIM8	VGNC	VGNC:47839
Bos taurus	TRIM8	VGNC	VGNC:36352
Mus musculus	TRIM8	MGD	MGI:1933302
Felis catus	TRIM8	VGNC	VGNC:66555
Macaca mulatta	TRIM8	VGNC	VGNC:78979
Rattus norvegicus	TRIM8	RGD	RGD:1585223
Others	TRIM8	NCBI