Gene id |
25897 |
Gene Summary Protein Summary Gene ontology Diseases PubMed |
Gene Summary
|
Gene Symbol |
RNF19A Gene UCSC Ensembl |
Aliases |
RNF19 |
Gene name |
ring finger protein 19A, RBR E3 ubiquitin protein ligase |
Alternate names |
E3 ubiquitin-protein ligase RNF19A, double ring-finger protein, protein p38 interacting with transcription factor Sp1, ring finger protein 19, ring finger protein 19A, E3 ubiquitin protein ligase, ring-IBR-ring domain containing protein Dorfin, |
Gene location |
8q22.2 (100336203: 100257058) Exons: 15 NC_000008.11
|
Gene summary(Entrez) |
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 ub
|
OMIM |
607119 |
Protein Summary
|
Protein general information
| Q9NV58
Name: E3 ubiquitin protein ligase RNF19A (EC 2.3.2.31) (Double ring finger protein) (Dorfin) (RING finger protein 19A) (p38)
Length: 838 Mass: 90696
Tissue specificity: Widely expressed, with highest levels in heart. Ubiquitously expressed in the central nervous system. {ECO
|
Sequence |
MQEQEIGFISKYNEGLCVNTDPVSILTSILDMSLHRQMGSDRDLQSSASSVSLPSVKKAPKKRRISIGSLFRRKK DNKRKSRELNGGVDGIASIESIHSEMCTDKNSIFSTNTSSDNGLTSISKQIGDFIECPLCLLRHSKDRFPDIMTC HHRSCVDCLRQYLRIEISESRVNISCPECTERFNPHDIRLILSDDVLMEKYEEFMLRRWLVADPDCRWCPAPDCG YAVIAFGCASCPKLTCGREGCGTEFCYHCKQIWHPNQTCDAARQERAQSLRLRTIRSSSISYSQESGAAADDIKP CPRCAAYIIKMNDGSCNHMTCAVCGCEFCWLCMKEISDLHYLSPSGCTFWGKKPWSRKKKILWQLGTLVGAPVGI ALIAGIAIPAMIIGIPVYVGRKIHNRYEGKDVSKHKRNLAIAGGVTLSVIVSPVVAAVTVGIGVPIMLAYVYGVV PISLCRSGGCGVSAGNGKGVRIEFDDENDINVGGTNTAVDTTSVAEARHNPSIGEGSVGGLTGSLSASGSHMDRI GAIRDNLSETASTMALAGASITGSLSGSAMVNCFNRLEVQADVQKERYSLSGESGTVSLGTVSDNASTKAMAGSI LNSYIPLDKEGNSMEVQVDIESKPSKFRHNSGSSSVDDGSATRSHAGGSSSGLPEGKSSATKWSKEATAGKKSKS GKLRKKGNMKINETREDMDAQLLEQQSTNSSEFEAPSLSDSMPSVADSHSSHFSEFSCSDLESMKTSCSHGSSDY HTRFATVNILPEVENDRLENSPHQCSISVVTQTASCSEVSQLNHIAEEHGNNGIKPNVDLYFGDALKETNNNHSH QTMELKVAIQTEI
|
Structural information |
|
Other Databases |
GeneCards: RNF19A  Malacards: RNF19A |
|
GO accession | Term name | Evidence code | Go category |
---|
GO:0061630 |
ubiquitin protein ligase activity
|
IBA |
molecular function |
GO:0032436 |
positive regulation of pr oteasomal ubiquitin-depen dent protein catabolic pr ocess
|
IBA |
biological process |
GO:0006511 |
ubiquitin-dependent prote in catabolic process
|
IBA |
biological process |
GO:0000151 |
ubiquitin ligase complex
|
IBA |
cellular component |
GO:0031624 |
ubiquitin conjugating enz yme binding
|
IBA |
molecular function |
GO:0005737 |
cytoplasm
|
IBA |
cellular component |
GO:0000209 |
protein polyubiquitinatio n
|
IBA |
biological process |
GO:0004842 |
ubiquitin-protein transfe rase activity
|
IEA |
molecular function |
GO:0016567 |
protein ubiquitination
|
IEA |
biological process |
GO:0046872 |
metal ion binding
|
IEA |
molecular function |
GO:0016740 |
transferase activity
|
IEA |
molecular function |
GO:0016020 |
membrane
|
IEA |
cellular component |
GO:0005737 |
cytoplasm
|
IEA |
cellular component |
GO:0016021 |
integral component of mem brane
|
IEA |
cellular component |
GO:0005856 |
cytoskeleton
|
IEA |
cellular component |
GO:0000209 |
protein polyubiquitinatio n
|
TAS |
biological process |
GO:0005829 |
cytosol
|
TAS |
cellular component |
GO:0005829 |
cytosol
|
TAS |
cellular component |
GO:0005829 |
cytosol
|
TAS |
cellular component |
GO:0005829 |
cytosol
|
TAS |
cellular component |
GO:0098978 |
glutamatergic synapse
|
IEA |
cellular component |
GO:0099576 |
regulation of protein cat abolic process at postsyn apse, modulating synaptic transmission
|
IEA |
biological process |
GO:0098686 |
hippocampal mossy fiber t o CA3 synapse
|
IEA |
cellular component |
GO:0005815 |
microtubule organizing ce nter
|
IEA |
cellular component |
GO:0016020 |
membrane
|
IEA |
cellular component |
GO:0098794 |
postsynapse
|
IEA |
cellular component |
GO:0016567 |
protein ubiquitination
|
IEA |
biological process |
GO:0005813 |
centrosome
|
TAS |
cellular component |
GO:0008134 |
transcription factor bind ing
|
TAS |
molecular function |
GO:0000226 |
microtubule cytoskeleton organization
|
TAS |
biological process |
|
|
Associated diseases |
References |
Aberrant CpGs in Low Motility Sperm | MIK: 21674046 |
Spermatogenic defects | MIK: 31037746 |
Teratozoospermia | MIK: 17327269 |
|
|
PMID |
Condition |
Mutation |
Ethnicity |
Population details |
Infertility_type |
Associated_genes |
Abstract |
17327269 |
Teratozoos permia
|
|
|
19 (6 controls , 13 cases)
|
Male infertility |
GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
|
Show abstract |
21674046 |
Aberrant C pGs in Low Motility Sperm
|
|
|
18
|
Male infertility |
GSE26881
|
Show abstract |
31037746 |
Spermatoge nic defect s
|
|
|
16 (1 control, 15 cases)
|
Male infertility |
GSE6023 analyzed using GEO2R
|
Show abstract |
|