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Q9NV58 (RN19A_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified March 19, 2014. Version 128. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
E3 ubiquitin-protein ligase RNF19A

EC=6.3.2.-
Alternative name(s):
Double ring-finger protein
Short name=Dorfin
RING finger protein 19A
p38
Gene names
Name:RNF19A
Synonyms:RNF19
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length838 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

E3 ubiquitin-protein ligase which accepts ubiquitin from E2 ubiquitin-conjugating enzymes UBE2L3 and UBE2L6 in the form of a thioester and then directly transfers the ubiquitin to targeted substrates, such as SNCAIP or CASR. Specifically ubiquitinates pathogenic SOD1 variants, which leads to their proteasomal degradation and to neuronal protection. Ref.1 Ref.7 Ref.8 Ref.9 Ref.10

Pathway

Protein modification; protein ubiquitination.

Subunit structure

Interacts with UBE2L3 and UBE2L6. Interacts with transcription factor Sp1. Interacts with VCP, CASR, SNCAIP and with some SOD1 variants which cause amyotrophic lateral sclerosis, but not with wild-type SOD1. Ref.1 Ref.5 Ref.7 Ref.8 Ref.9 Ref.10

Subcellular location

Membrane; Multi-pass membrane protein Potential. Cytoplasmcytoskeletonmicrotubule organizing centercentrosome. Note: Present in the hyaline inclusion bodies specifically found in motor neurons from amyotrophic lateral sclerosis patients. Present in the Lewy bodies specifically found in neurons from Parkinson disease patients. Ref.1 Ref.7 Ref.8 Ref.9

Tissue specificity

Widely expressed, with highest levels in heart. Ubiquitously expressed in the central nervous system. Ref.1

Sequence similarities

Belongs to the RBR family. RNF19 subfamily.

Contains 1 IBR-type zinc finger.

Contains 2 RING-type zinc fingers.

Sequence caution

The sequence BAB14581.1 differs from that shown. Reason: Erroneous initiation.

The sequence BAB15647.1 differs from that shown. Reason: Erroneous initiation.

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q9NV58-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
Isoform 2 (identifier: Q9NV58-2)

The sequence of this isoform differs from the canonical sequence as follows:
     572-604: RYSLSGESGTVSLGTVSDNASTKAMAGSILNSY → AAVAAAGRWAYSPATLRCRRSEELKNIHDSS
     605-838: Missing.
Note: No experimental confirmation available.
Isoform 3 (identifier: Q9NV58-3)

The sequence of this isoform differs from the canonical sequence as follows:
     1-31: Missing.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 838838E3 ubiquitin-protein ligase RNF19A
PRO_0000056061

Regions

Transmembrane368 – 38821Helical; Potential
Transmembrane424 – 44421Helical; Potential
Zinc finger132 – 17948RING-type 1
Zinc finger199 – 26466IBR-type
Zinc finger301 – 33232RING-type 2
Region660 – 838179Interaction with CASR

Amino acid modifications

Modified residue6311Phosphoserine Ref.12

Natural variations

Alternative sequence1 – 3131Missing in isoform 3.
VSP_028631
Alternative sequence572 – 60433RYSLS…ILNSY → AAVAAAGRWAYSPATLRCRR SEELKNIHDSS in isoform 2.
VSP_021010
Alternative sequence605 – 838234Missing in isoform 2.
VSP_021011
Natural variant8351Q → H.
Corresponds to variant rs9642785 [ dbSNP | Ensembl ].
VAR_028045

Experimental info

Mutagenesis1321C → S: Abolishes interaction with VCP and E3 ligase activity toward mutant SOD1; when associated with S-135. Ref.9
Mutagenesis1351C → S: Abolishes interaction with VCP and E3 ligase activity toward mutant SOD1; when associated with S-132. Ref.9
Sequence conflict6451H → Y in BAB39353. Ref.1
Sequence conflict7441S → R in CAB53700. Ref.6

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified October 17, 2006. Version 3.
Checksum: 00A7DED5023FDC06

FASTA83890,696
        10         20         30         40         50         60 
MQEQEIGFIS KYNEGLCVNT DPVSILTSIL DMSLHRQMGS DRDLQSSASS VSLPSVKKAP 

        70         80         90        100        110        120 
KKRRISIGSL FRRKKDNKRK SRELNGGVDG IASIESIHSE MCTDKNSIFS TNTSSDNGLT 

       130        140        150        160        170        180 
SISKQIGDFI ECPLCLLRHS KDRFPDIMTC HHRSCVDCLR QYLRIEISES RVNISCPECT 

       190        200        210        220        230        240 
ERFNPHDIRL ILSDDVLMEK YEEFMLRRWL VADPDCRWCP APDCGYAVIA FGCASCPKLT 

       250        260        270        280        290        300 
CGREGCGTEF CYHCKQIWHP NQTCDAARQE RAQSLRLRTI RSSSISYSQE SGAAADDIKP 

       310        320        330        340        350        360 
CPRCAAYIIK MNDGSCNHMT CAVCGCEFCW LCMKEISDLH YLSPSGCTFW GKKPWSRKKK 

       370        380        390        400        410        420 
ILWQLGTLVG APVGIALIAG IAIPAMIIGI PVYVGRKIHN RYEGKDVSKH KRNLAIAGGV 

       430        440        450        460        470        480 
TLSVIVSPVV AAVTVGIGVP IMLAYVYGVV PISLCRSGGC GVSAGNGKGV RIEFDDENDI 

       490        500        510        520        530        540 
NVGGTNTAVD TTSVAEARHN PSIGEGSVGG LTGSLSASGS HMDRIGAIRD NLSETASTMA 

       550        560        570        580        590        600 
LAGASITGSL SGSAMVNCFN RLEVQADVQK ERYSLSGESG TVSLGTVSDN ASTKAMAGSI 

       610        620        630        640        650        660 
LNSYIPLDKE GNSMEVQVDI ESKPSKFRHN SGSSSVDDGS ATRSHAGGSS SGLPEGKSSA 

       670        680        690        700        710        720 
TKWSKEATAG KKSKSGKLRK KGNMKINETR EDMDAQLLEQ QSTNSSEFEA PSLSDSMPSV 

       730        740        750        760        770        780 
ADSHSSHFSE FSCSDLESMK TSCSHGSSDY HTRFATVNIL PEVENDRLEN SPHQCSISVV 

       790        800        810        820        830 
TQTASCSEVS QLNHIAEEHG NNGIKPNVDL YFGDALKETN NNHSHQTMEL KVAIQTEI 

« Hide

Isoform 2 [UniParc].

Checksum: 0B210220B7C0F623
Show »

FASTA60265,416
Isoform 3 [UniParc].

Checksum: F50D47C3EA851842
Show »

FASTA80787,256

References

« Hide 'large scale' references
[1]"A novel centrosomal ring-finger protein, dorfin, mediates ubiquitin ligase activity."
Niwa J., Ishigaki S., Doyu M., Suzuki T., Tanaka K., Sobue G.
Biochem. Biophys. Res. Commun. 281:706-713(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, INTERACTION WITH UBE2L3 AND UBE2L6, SUBCELLULAR LOCATION, TISSUE SPECIFICITY.
Tissue: Spinal cord.
[2]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
Tissue: Brain.
[3]"Expression and promoter activity of MaLR element of Dorfin gene related to Parkinson disease."
Kim T., Huh J., Kim H.
Submitted (SEP-2006) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1-89 (ISOFORM 3).
[4]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 426-838 (ISOFORM 1), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 142-838 (ISOFORM 2).
Tissue: Hepatoma, Ovarian carcinoma and Placenta.
[5]"A set of proteins interacting with transcription factor Sp1 identified in a two-hybrid screening."
Gunther M., Laithier M., Brison O.
Mol. Cell. Biochem. 210:131-142(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 422-824 (ISOFORM 1), INTERACTION WITH SP1.
Tissue: Colon.
[6]"The full-ORF clone resource of the German cDNA consortium."
Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I.
BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 524-838 (ISOFORM 1).
Tissue: Fetal kidney and Testis.
[7]"Dorfin ubiquitylates mutant SOD1 and prevents mutant SOD1-mediated neurotoxicity."
Niwa J., Ishigaki S., Hishikawa N., Yamamoto M., Doyu M., Murata S., Tanaka K., Taniguchi N., Sobue G.
J. Biol. Chem. 277:36793-36798(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, SUBCELLULAR LOCATION, INTERACTION WITH SOD1.
[8]"Dorfin localizes to Lewy bodies and ubiquitylates synphilin-1."
Ito T., Niwa J., Hishikawa N., Ishigaki S., Doyu M., Sobue G.
J. Biol. Chem. 278:29106-29114(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, SUBCELLULAR LOCATION, INTERACTION WITH SNCAIP.
[9]"Physical and functional interaction between dorfin and valosin-containing protein that are colocalized in ubiquitylated inclusions in neurodegenerative disorders."
Ishigaki S., Hishikawa N., Niwa J., Iemura S., Natsume T., Hori S., Kakizuka A., Tanaka K., Sobue G.
J. Biol. Chem. 279:51376-51385(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, INTERACTION WITH VCP, MUTAGENESIS OF CYS-132 AND CYS-135, SUBCELLULAR LOCATION.
[10]"Calcium-sensing receptor ubiquitination and degradation mediated by the E3 ubiquitin ligase dorfin."
Huang Y., Niwa J., Sobue G., Breitwieser G.E.
J. Biol. Chem. 281:11610-11617(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, INTERACTION WITH CASR AND VCP.
[11]"Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.
Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
[12]"System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."
Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B.
Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-631, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AB029316 mRNA. Translation: BAB39353.1.
BC093938 mRNA. Translation: AAH93938.1.
BC093940 mRNA. Translation: AAH93940.1.
AB271914 mRNA. Translation: BAF48117.1.
AK001774 mRNA. Translation: BAA91900.1.
AK023455 mRNA. Translation: BAB14581.1. Different initiation.
AK027070 mRNA. Translation: BAB15647.1. Different initiation.
AJ242975 mRNA. Translation: CAB45132.1.
AL110253 mRNA. Translation: CAB53700.1.
AL122096 mRNA. Translation: CAB59264.1.
PIRT34528.
RefSeqNP_001267468.1. NM_001280539.1.
NP_056250.3. NM_015435.4.
NP_904355.1. NM_183419.3.
XP_005250910.1. XM_005250853.1.
UniGeneHs.292882.

3D structure databases

ProteinModelPortalQ9NV58.
SMRQ9NV58. Positions 132-350.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid117405. 15 interactions.
IntActQ9NV58. 7 interactions.
STRING9606.ENSP00000342667.

PTM databases

PhosphoSiteQ9NV58.

Polymorphism databases

DMDM116242764.

Proteomic databases

PaxDbQ9NV58.
PRIDEQ9NV58.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000341084; ENSP00000342667; ENSG00000034677. [Q9NV58-1]
ENST00000517584; ENSP00000429161; ENSG00000034677.
ENST00000519449; ENSP00000428968; ENSG00000034677. [Q9NV58-1]
GeneID25897.
KEGGhsa:25897.
UCSCuc003yjj.1. human. [Q9NV58-1]

Organism-specific databases

CTD25897.
GeneCardsGC08M101269.
HGNCHGNC:13432. RNF19A.
HPACAB011455.
HPA023652.
MIM607119. gene.
neXtProtNX_Q9NV58.
PharmGKBPA162401601.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG245345.
HOVERGENHBG052073.
InParanoidQ9NV58.
KOK11972.
OMASNMKINE.
OrthoDBEOG7JDQXT.
PhylomeDBQ9NV58.
TreeFamTF324777.

Enzyme and pathway databases

UniPathwayUPA00143.

Gene expression databases

ArrayExpressQ9NV58.
BgeeQ9NV58.
CleanExHS_RNF19A.
GenevestigatorQ9NV58.

Family and domain databases

Gene3D3.30.40.10. 1 hit.
InterProIPR002867. Znf_C6HC.
IPR001841. Znf_RING.
IPR013083. Znf_RING/FYVE/PHD.
[Graphical view]
PfamPF01485. IBR. 2 hits.
[Graphical view]
SMARTSM00647. IBR. 2 hits.
SM00184. RING. 1 hit.
[Graphical view]
PROSITEPS50089. ZF_RING_2. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSRNF19A. human.
GeneWikiRNF19A.
GenomeRNAi25897.
NextBio47345.
PROQ9NV58.
SOURCESearch...

Entry information

Entry nameRN19A_HUMAN
AccessionPrimary (citable) accession number: Q9NV58
Secondary accession number(s): A3KCU9 expand/collapse secondary AC list , Q52LG1, Q9H5H9, Q9H8M8, Q9UFG0, Q9UFX6, Q9Y4Y1
Entry history
Integrated into UniProtKB/Swiss-Prot: July 11, 2001
Last sequence update: October 17, 2006
Last modified: March 19, 2014
This is version 128 of the entry and version 3 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Relevant documents

SIMILARITY comments

Index of protein domains and families

PATHWAY comments

Index of metabolic and biosynthesis pathways

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 8

Human chromosome 8: entries, gene names and cross-references to MIM