RNF19A - ring finger protein 19A, RBR E3 ubiquitin protein ligase Gene

Also Known as RNF19

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 25897

About RNF19A

Cytogenetic location: 8q22.2 Genomic coordinates (GRCh38): 8:100,257,067-100,336,204 (from NCBI)

This gene has 15 transcripts (splice variants), 218 orthologues and 9 paralogues. Ubiquitous expression in testis (RPKM 28.2), gall bladder (RPKM 22.2) and 25 other tissues.

Summary

This gene encodes a member of the ring between ring fingers (RBR) protein family, and the encoded protein contains two RING-finger motifs and an in between RING fingers motif. This protein is an E3 ubiquitin Ligase that is localized to Lewy bodies, and ubiquitylates synphilin-1, which is an interacting protein of alpha synuclein in neurons. The encoded protein may be involved in amyotrophic lateral sclerosis and Parkinson's disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]

RNF19A Products (5)

mRNA Protein Name
NM_001280539.2 NP_001267468.1 E3 ubiquitin-protein ligase RNF19A
NM_001353837.2 NP_001340766.1 E3 ubiquitin-protein ligase RNF19A
NM_001353838.2 NP_001340767.1 E3 ubiquitin-protein ligase RNF19A
NM_015435.5 NP_056250.3 E3 ubiquitin-protein ligase RNF19A
NM_183419.4 NP_904355.1 E3 ubiquitin-protein ligase RNF19A
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
32814053 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

RNF19A Protein Structure

IBR

IBR: IBR domain, a half RING-finger domain (199 - 264)

IBR

IBR: IBR domain, a half RING-finger domain (294 - 340)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 838 a.a.
Protein Preferred Names Protein Names

E3 ubiquitin-protein ligase RNF19A

  • double ring-finger protein

Related Diseases

Diseases Alias
Lateral Sclerosis
  • Primary Lateral Sclerosis

  • Adult-Onset Primary Lateral Sclerosis

  • Adult-Onset Pls

  • Motor Neuron Disease

  • Pls

  • Pls - [Primary Lateral Sclerosis]

  • Lateral Spinal Sclerosis

  • Lateral Complete Paralysis

  • Lateral Incomplete Paralysis

  • Lateral Paralysis

Amyotrophic Lateral Sclerosis 1
  • Amyotrophic Lateral Sclerosis

  • ALS

  • Lou Gehrig Disease

  • Amyotrophic Lateral Sclerosis Type 1

  • Charcot Disease

  • ALS1

  • Amyotrophic Lateral Sclerosis, Susceptibility To

  • Fals

  • Lou Gehrig'S Disease

  • Mnd

  • Motor Neuron Disease

  • Familial Amyotrophic Lateral Sclerosis

  • Amyotrophic Lateral Sclerosis 1, Familial

  • Amyotrophic Lateral Sclerosis 1, Autosomal Dominant

  • Motor Neuron Disease, Bulbar

  • Motor Neurone Disease

  • Amyotrophic Lateral Sclerosis With Dementia

  • Dementia With Amyotrophic Lateral Sclerosis

  • Motor Neuron Disease, Amyotrophic Lateral Sclerosis

  • Sclerosis, Lateral, Amyotrophic

  • Sclerosis, Lateral, Amyotrophic, Type 1

  • Amyotrophic Sclerosis

  • Als - [Amyotrophic Lateral Sclerosis]

  • Wasting Palsy

  • Amyotrophic Paralysis

  • Amyotrophy Lateral Sclerosis

  • Wasting Paralysis

  • Spinal Progressive Amyotrophy

  • Progressive Atrophic Paralysis

Spinocerebellar Ataxia, Autosomal Recessive 16
  • Autosomal Recessive Spinocerebellar Ataxia 16

  • SCAR16

  • Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency

  • Spinocerebellar Ataxia Autosomal Recessive Type 16

  • Spinocerebellar Ataxia, Autosomal Recessive, 16

  • Ataxia, Spinocerebellar, Autosomal Recessive, Type 16

Parkinson Disease, Late-Onset
  • Parkinson Disease

  • Parkinson'S Disease

  • PD

  • PARK

  • Parkinson Disease, Susceptibility To

  • Late Onset Parkinson'S Disease

  • Late Onset Parkinson Disease

  • Paralysis Agitans

  • Primary Parkinsonism

  • Idiopathic Parkinson Disease

  • Parkinson'S

  • Parkinson Disease, Late-Onset, Susceptibility To

  • Parkinson Disease, Age Of Onset, Modifier

  • Lewy Body Parkinson Disease

  • Idiopathic Parkinson'S Disease

  • Pd - [Parkinson Disease]

  • Parkinson Disease Nos

  • Parkinson, Nos

  • Primary Parkinson Disease

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

Orthologs Information

Species Symbol Source ID
Bos taurus RNF19A VGNC VGNC:34044
Macaca mulatta RNF19A VGNC VGNC:82224
Rattus norvegicus RNF19A RGD RGD:1307807
Mus musculus RNF19A MGD MGI:1353623
Felis catus RNF19A VGNC VGNC:64687
Canis familiaris RNF19A VGNC VGNC:45650
Others RNF19A NCBI