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Q96K19 (RN170_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 91. 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 RNF170

EC=6.3.2.-
Alternative name(s):
Putative LAG1-interacting protein
RING finger protein 170
Gene names
Name:RNF170
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length258 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

E3 ubiquitin-protein ligase that plays an essential role in stimulus-induced inositol 1,4,5-trisphosphate receptor type 1 (ITPR1) ubiquitination and degradation via the endoplasmic reticulum-associated degradation (ERAD) pathway. Also involved in ITPR1 turnover in resting cells. Ref.8

Pathway

Protein modification; protein ubiquitination.

Subunit structure

Constitutively associated with the ERLIN1/ERLIN 2 complex. Interacts with activated ITPR1. Ref.8

Subcellular location

Endoplasmic reticulum membrane; Multi-pass membrane protein By similarity.

Tissue specificity

Expressed in the spinal chord. Ref.9

Involvement in disease

Ataxia, sensory, 1, autosomal dominant (SNAX1) [MIM:608984]: A rare disease characterized by progressive ataxia caused by degeneration of the posterior columns of the spinal cord. Affected individuals have a reduced ability to feel pain, temperature and vibration, particularly in the hands and feet. Their most prominent feature is an ataxic gait resulting from a severe loss of proprioception. Thus, patients rely on visual cues for maintaining proper body posture, such that they are unable to remain upright if their eyes are closed (Romberg sign).
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.9

Sequence similarities

Contains 1 RING-type zinc finger.

Sequence caution

The sequence AAH39461.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

The sequence AAH44566.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

Ontologies

Keywords
   Biological processUbl conjugation pathway
   Cellular componentEndoplasmic reticulum
Membrane
   Coding sequence diversityAlternative splicing
   DiseaseDisease mutation
   DomainTransmembrane
Transmembrane helix
Zinc-finger
   LigandMetal-binding
Zinc
   Molecular functionLigase
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processprotein ubiquitination

Inferred from electronic annotation. Source: UniProtKB-UniPathway

   Cellular_componentendoplasmic reticulum membrane

Inferred from electronic annotation. Source: UniProtKB-SubCell

integral component of membrane

Inferred from electronic annotation. Source: UniProtKB-KW

   Molecular_functionligase activity

Inferred from electronic annotation. Source: UniProtKB-KW

zinc ion binding

Inferred from electronic annotation. Source: InterPro

Complete GO annotation...

Alternative products

This entry describes 6 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q96K19-1)

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: Q96K19-2)

The sequence of this isoform differs from the canonical sequence as follows:
     170-258: IMERIMDLPT...REVITQRLTR → VSNAKACSKL...PRSLRPALET
Note: No experimental confirmation available.
Isoform 3 (identifier: Q96K19-3)

The sequence of this isoform differs from the canonical sequence as follows:
     133-200: VTLLLTVFGE...VGGLFWMFRI → GSSEKSSRAS...DCVSILWFSG
     201-258: Missing.
Note: No experimental confirmation available.
Isoform 4 (identifier: Q96K19-4)

The sequence of this isoform differs from the canonical sequence as follows:
     1-96: Missing.
     97-132: PVETNCGHLFCGACIIAYWRYGSWLGAISCPICRQT → MHLLPLDSSSTLTCTVPSACTKPPSRWRPTVDIFFV
Note: No experimental confirmation available.
Isoform 5 (identifier: Q96K19-5)

The sequence of this isoform differs from the canonical sequence as follows:
     109-116: ACIIAYWR → NLTPNSIW
     117-258: Missing.
Note: No experimental confirmation available.
Isoform 6 (identifier: Q96K19-6)

The sequence of this isoform differs from the canonical sequence as follows:
     1-84: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 258258E3 ubiquitin-protein ligase RNF170
PRO_0000280700

Regions

Transmembrane25 – 4521Helical; Potential
Transmembrane202 – 22221Helical; Potential
Transmembrane224 – 24421Helical; Potential
Zinc finger87 – 13044RING-type

Natural variations

Alternative sequence1 – 9696Missing in isoform 4.
VSP_023851
Alternative sequence1 – 8484Missing in isoform 6.
VSP_044556
Alternative sequence97 – 13236PVETN…ICRQT → MHLLPLDSSSTLTCTVPSAC TKPPSRWRPTVDIFFV in isoform 4.
VSP_023852
Alternative sequence109 – 1168ACIIAYWR → NLTPNSIW in isoform 5.
VSP_023853
Alternative sequence117 – 258142Missing in isoform 5.
VSP_023854
Alternative sequence133 – 20068VTLLL…WMFRI → GSSEKSSRASEQTHQEAVAC LDTQNSPACTVGCRSGPQHI PHDRMLPSASPRLCFTLLDC VSILWFSG in isoform 3.
VSP_023855
Alternative sequence170 – 25889IMERI…QRLTR → VSNAKACSKLEEDTFLLFCK VRFTNKYSLTMRNLGQAQWL APIVLALWEAKAGGSLEPRS LRPALET in isoform 2.
VSP_023856
Alternative sequence201 – 25858Missing in isoform 3.
VSP_023857
Natural variant1991R → C in SNAX1. Ref.9
VAR_068219

Experimental info

Sequence conflict91Q → H in BAB55340. Ref.1
Sequence conflict741P → T in AAH44566. Ref.4
Sequence conflict971P → Q in AAH44566. Ref.4

Sequences

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

Last modified March 20, 2007. Version 2.
Checksum: D87C0B0C121AFD76

FASTA25829,815
        10         20         30         40         50         60 
MAKYQGEVQS LKLDDDSVIE GVSDQVLVAV VVSFALIATL VYALFRNVHQ NIHPENQELV 

        70         80         90        100        110        120 
RVLREQLQTE QDAPAATRQQ FYTDMYCPIC LHQASFPVET NCGHLFCGAC IIAYWRYGSW 

       130        140        150        160        170        180 
LGAISCPICR QTVTLLLTVF GEDDQSQDVL RLHQDINDYN RRFSGQPRSI MERIMDLPTL 

       190        200        210        220        230        240 
LRHAFREMFS VGGLFWMFRI RIILCLMGAF FYLISPLDFV PEALFGILGF LDDFFVIFLL 

       250 
LIYISIMYRE VITQRLTR 

« Hide

Isoform 2 [UniParc].

Checksum: B3181176F62F3246
Show »

FASTA23626,650
Isoform 3 [UniParc].

Checksum: E4B6CC162D6B9078
Show »

FASTA20022,154
Isoform 4 [UniParc].

Checksum: FA6744E40B8895E1
Show »

FASTA16218,950
Isoform 5 [UniParc].

Checksum: 10FE6D196964F4DE
Show »

FASTA11613,081
Isoform 6 [UniParc].

Checksum: 28A727ABDFE770E9
Show »

FASTA17420,331

References

« Hide 'large scale' references
[1]"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] (ISOFORMS 1 AND 4).
Tissue: Amygdala and Placenta.
[2]"DNA sequence and analysis of human chromosome 8."
Nusbaum C., Mikkelsen T.S., Zody M.C., Asakawa S., Taudien S., Garber M., Kodira C.D., Schueler M.G., Shimizu A., Whittaker C.A., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Yang X., Allen N.R., Anderson S., Asakawa T. expand/collapse author list , Blechschmidt K., Bloom T., Borowsky M.L., Butler J., Cook A., Corum B., DeArellano K., DeCaprio D., Dooley K.T., Dorris L. III, Engels R., Gloeckner G., Hafez N., Hagopian D.S., Hall J.L., Ishikawa S.K., Jaffe D.B., Kamat A., Kudoh J., Lehmann R., Lokitsang T., Macdonald P., Major J.E., Matthews C.D., Mauceli E., Menzel U., Mihalev A.H., Minoshima S., Murayama Y., Naylor J.W., Nicol R., Nguyen C., O'Leary S.B., O'Neill K., Parker S.C.J., Polley A., Raymond C.K., Reichwald K., Rodriguez J., Sasaki T., Schilhabel M., Siddiqui R., Smith C.L., Sneddon T.P., Talamas J.A., Tenzin P., Topham K., Venkataraman V., Wen G., Yamazaki S., Young S.K., Zeng Q., Zimmer A.R., Rosenthal A., Birren B.W., Platzer M., Shimizu N., Lander E.S.
Nature 439:331-335(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]"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] (ISOFORMS 1; 2; 3; 5 AND 6).
Tissue: Brain, Lung, Pancreas and Placenta.
[5]"Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs."
Wiemann S., Weil B., Wellenreuther R., Gassenhuber J., Glassl S., Ansorge W., Boecher M., Bloecker H., Bauersachs S., Blum H., Lauber J., Duesterhoeft A., Beyer A., Koehrer K., Strack N., Mewes H.-W., Ottenwaelder B., Obermaier B. expand/collapse author list , Tampe J., Heubner D., Wambutt R., Korn B., Klein M., Poustka A.
Genome Res. 11:422-435(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-167 (ISOFORM 1).
Tissue: Brain.
[6]"Interactors of a human homolog of yeast LAG1 gene."
Pan H., Xu Z.G., Huo K.K., Li Y.Y.
Submitted (NOV-1999) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 140-258 (ISOFORM 1).
Tissue: Fetal brain.
[7]"Initial characterization of the human central proteome."
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[8]"RNF170 protein, an endoplasmic reticulum membrane ubiquitin ligase, mediates inositol 1,4,5-trisphosphate receptor ubiquitination and degradation."
Lu J.P., Wang Y., Sliter D.A., Pearce M.M., Wojcikiewicz R.J.
J. Biol. Chem. 286:24426-24433(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, INTERACTION WITH ERLIN1/ERLIN2 COMPLEX AND ITPR1.
[9]"A mutation in the RNF170 gene causes autosomal dominant sensory ataxia."
Valdmanis P.N., Dupre N., Lachance M., Stochmanski S.J., Belzil V.V., Dion P.A., Thiffault I., Brais B., Weston L., Saint-Amant L., Samuels M.E., Rouleau G.A.
Brain 134:602-607(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT SNAX1 CYS-199, TISSUE SPECIFICITY.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AK027748 mRNA. Translation: BAB55340.1.
AK090864 mRNA. Translation: BAC03534.1.
AC009634 Genomic DNA. No translation available.
AC087533 Genomic DNA. No translation available.
CH471080 Genomic DNA. Translation: EAW63201.1.
CH471080 Genomic DNA. Translation: EAW63203.1.
BC013422 mRNA. Translation: AAH13422.1.
BC032393 mRNA. Translation: AAH32393.1.
BC039461 mRNA. Translation: AAH39461.1. Different initiation.
BC044566 mRNA. Translation: AAH44566.1. Different initiation.
BC058289 mRNA. No translation available.
AL136620 mRNA. Translation: CAB66555.1.
AF209504 mRNA. Translation: AAM92891.1.
RefSeqNP_001153695.1. NM_001160223.1.
NP_001153696.1. NM_001160224.1.
NP_001153697.1. NM_001160225.1.
NP_112216.3. NM_030954.3.
UniGeneHs.491626.

3D structure databases

ProteinModelPortalQ96K19.
SMRQ96K19. Positions 84-130.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid123583. 3 interactions.
IntActQ96K19. 1 interaction.
MINTMINT-4721277.
STRING9606.ENSP00000240159.

PTM databases

PhosphoSiteQ96K19.

Polymorphism databases

DMDM134035027.

Proteomic databases

PaxDbQ96K19.
PRIDEQ96K19.

Protocols and materials databases

DNASU81790.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000240159; ENSP00000240159; ENSG00000120925. [Q96K19-5]
ENST00000319073; ENSP00000325969; ENSG00000120925. [Q96K19-4]
ENST00000319104; ENSP00000326138; ENSG00000120925. [Q96K19-3]
ENST00000526349; ENSP00000435782; ENSG00000120925. [Q96K19-6]
ENST00000527424; ENSP00000434797; ENSG00000120925. [Q96K19-1]
ENST00000534961; ENSP00000445725; ENSG00000120925. [Q96K19-1]
GeneID81790.
KEGGhsa:81790.
UCSCuc003xpm.3. human. [Q96K19-1]
uc003xpn.3. human. [Q96K19-4]
uc003xpq.4. human. [Q96K19-2]
uc011lcx.2. human. [Q96K19-3]

Organism-specific databases

CTD81790.
GeneCardsGC08M042705.
HGNCHGNC:25358. RNF170.
HPAHPA050931.
HPA054621.
MIM608984. phenotype.
614649. gene.
neXtProtNX_Q96K19.
PharmGKBPA134922560.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG294660.
HOVERGENHBG093906.
InParanoidQ96K19.
KOK15707.
OMAVFGEDDQ.
OrthoDBEOG7WX0B3.
PhylomeDBQ96K19.
TreeFamTF328342.

Enzyme and pathway databases

UniPathwayUPA00143.

Gene expression databases

ArrayExpressQ96K19.
BgeeQ96K19.
CleanExHS_RNF170.
GenevestigatorQ96K19.

Family and domain databases

Gene3D3.30.40.10. 1 hit.
InterProIPR010652. DUF1232.
IPR018957. Znf_C3HC4_RING-type.
IPR001841. Znf_RING.
IPR013083. Znf_RING/FYVE/PHD.
IPR017907. Znf_RING_CS.
[Graphical view]
PfamPF06803. DUF1232. 1 hit.
PF00097. zf-C3HC4. 1 hit.
[Graphical view]
SMARTSM00184. RING. 1 hit.
[Graphical view]
PROSITEPS00518. ZF_RING_1. 1 hit.
PS50089. ZF_RING_2. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi81790.
NextBio72096.
PROQ96K19.
SOURCESearch...

Entry information

Entry nameRN170_HUMAN
AccessionPrimary (citable) accession number: Q96K19
Secondary accession number(s): D3DSY6 expand/collapse secondary AC list , E9PIL4, Q7Z483, Q86YC0, Q8IXR7, Q8N2B5, Q8N5G9, Q8NG30, Q9H0V6
Entry history
Integrated into UniProtKB/Swiss-Prot: March 20, 2007
Last sequence update: March 20, 2007
Last modified: April 16, 2014
This is version 91 of the entry and version 2 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