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Protein

E3 ubiquitin-protein ligase RNF170

Gene

RNF170

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

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.1 Publication

Pathwayi: protein ubiquitination

This protein is involved in the pathway protein ubiquitination, which is part of Protein modification.
View all proteins of this organism that are known to be involved in the pathway protein ubiquitination and in Protein modification.

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri87 – 130RING-typePROSITE-ProRule annotationAdd BLAST44

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Ligase

Keywords - Biological processi

Ubl conjugation pathway

Keywords - Ligandi

Metal-binding, Zinc

Enzyme and pathway databases

UniPathwayiUPA00143.

Names & Taxonomyi

Protein namesi
Recommended name:
E3 ubiquitin-protein ligase RNF170 (EC:6.3.2.-)
Alternative name(s):
Putative LAG1-interacting protein
RING finger protein 170
Gene namesi
Name:RNF170
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 8

Organism-specific databases

HGNCiHGNC:25358. RNF170.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 24LumenalSequence analysisAdd BLAST24
Transmembranei25 – 45HelicalSequence analysisAdd BLAST21
Topological domaini46 – 201CytoplasmicSequence analysisAdd BLAST156
Transmembranei202 – 222HelicalSequence analysisAdd BLAST21
Topological domaini223LumenalSequence analysis1
Transmembranei224 – 244HelicalSequence analysisAdd BLAST21
Topological domaini245 – 258CytoplasmicSequence analysisAdd BLAST14

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane

Pathology & Biotechi

Involvement in diseasei

Ataxia, sensory, 1, autosomal dominant (SNAX1)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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).
See also OMIM:608984
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_068219199R → C in SNAX1. 1 PublicationCorresponds to variant rs397514478dbSNPEnsembl.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi81790.
MalaCardsiRNF170.
MIMi608984. phenotype.
OpenTargetsiENSG00000120925.
PharmGKBiPA134922560.

Polymorphism and mutation databases

BioMutaiRNF170.
DMDMi134035027.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002807001 – 258E3 ubiquitin-protein ligase RNF170Add BLAST258

Proteomic databases

EPDiQ96K19.
MaxQBiQ96K19.
PaxDbiQ96K19.
PeptideAtlasiQ96K19.
PRIDEiQ96K19.

PTM databases

iPTMnetiQ96K19.
PhosphoSitePlusiQ96K19.

Expressioni

Tissue specificityi

Expressed in the spinal chord.1 Publication

Gene expression databases

BgeeiENSG00000120925.
CleanExiHS_RNF170.
ExpressionAtlasiQ96K19. baseline and differential.
GenevisibleiQ96K19. HS.

Organism-specific databases

HPAiHPA050931.
HPA054621.

Interactioni

Subunit structurei

Constitutively associated with the ERLIN1/ERLIN 2 complex. Interacts with activated ITPR1.1 Publication

Binary interactionsi

WithEntry#Exp.IntActNotes
PSMA6P609003EBI-2130336,EBI-357793

Protein-protein interaction databases

BioGridi123583. 29 interactors.
IntActiQ96K19. 17 interactors.
MINTiMINT-4721277.
STRINGi9606.ENSP00000434797.

Structurei

3D structure databases

ProteinModelPortaliQ96K19.
SMRiQ96K19.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Contains 1 RING-type zinc finger.PROSITE-ProRule annotation

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri87 – 130RING-typePROSITE-ProRule annotationAdd BLAST44

Keywords - Domaini

Transmembrane, Transmembrane helix, Zinc-finger

Phylogenomic databases

eggNOGiKOG2164. Eukaryota.
ENOG410XTFS. LUCA.
GeneTreeiENSGT00390000017123.
HOVERGENiHBG093906.
InParanoidiQ96K19.
KOiK15707.
OMAiAYWRYGT.
OrthoDBiEOG091G0KJ3.
PhylomeDBiQ96K19.
TreeFamiTF328342.

Family and domain databases

Gene3Di3.30.40.10. 1 hit.
InterProiIPR010652. DUF1232.
IPR018957. Znf_C3HC4_RING-type.
IPR001841. Znf_RING.
IPR013083. Znf_RING/FYVE/PHD.
IPR017907. Znf_RING_CS.
[Graphical view]
PfamiPF06803. DUF1232. 1 hit.
PF00097. zf-C3HC4. 1 hit.
[Graphical view]
SMARTiSM00184. RING. 1 hit.
[Graphical view]
PROSITEiPS00518. ZF_RING_1. 1 hit.
PS50089. ZF_RING_2. 1 hit.
[Graphical view]

Sequences (6)i

Sequence statusi: Complete.

This entry describes 6 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q96K19-1) [UniParc]FASTAAdd to basket

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.

« Hide

        10         20         30         40         50
MAKYQGEVQS LKLDDDSVIE GVSDQVLVAV VVSFALIATL VYALFRNVHQ
60 70 80 90 100
NIHPENQELV RVLREQLQTE QDAPAATRQQ FYTDMYCPIC LHQASFPVET
110 120 130 140 150
NCGHLFCGAC IIAYWRYGSW LGAISCPICR QTVTLLLTVF GEDDQSQDVL
160 170 180 190 200
RLHQDINDYN RRFSGQPRSI MERIMDLPTL LRHAFREMFS VGGLFWMFRI
210 220 230 240 250
RIILCLMGAF FYLISPLDFV PEALFGILGF LDDFFVIFLL LIYISIMYRE

VITQRLTR
Length:258
Mass (Da):29,815
Last modified:March 20, 2007 - v2
Checksum:iD87C0B0C121AFD76
GO
Isoform 2 (identifier: Q96K19-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     170-258: IMERIMDLPT...REVITQRLTR → VSNAKACSKL...PRSLRPALET

Note: No experimental confirmation available.
Show »
Length:236
Mass (Da):26,650
Checksum:iB3181176F62F3246
GO
Isoform 3 (identifier: Q96K19-3) [UniParc]FASTAAdd to basket

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.
Show »
Length:200
Mass (Da):22,154
Checksum:iE4B6CC162D6B9078
GO
Isoform 4 (identifier: Q96K19-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-96: Missing.
     97-132: PVETNCGHLFCGACIIAYWRYGSWLGAISCPICRQT → MHLLPLDSSSTLTCTVPSACTKPPSRWRPTVDIFFV

Note: No experimental confirmation available.
Show »
Length:162
Mass (Da):18,950
Checksum:iFA6744E40B8895E1
GO
Isoform 5 (identifier: Q96K19-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     109-116: ACIIAYWR → NLTPNSIW
     117-258: Missing.

Note: No experimental confirmation available.
Show »
Length:116
Mass (Da):13,081
Checksum:i10FE6D196964F4DE
GO
Isoform 6 (identifier: Q96K19-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-84: Missing.

Note: No experimental confirmation available.
Show »
Length:174
Mass (Da):20,331
Checksum:i28A727ABDFE770E9
GO

Sequence cautioni

The sequence AAH39461 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
The sequence AAH44566 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti9Q → H in BAB55340 (PubMed:14702039).Curated1
Sequence conflicti74P → T in AAH44566 (PubMed:15489334).Curated1
Sequence conflicti97P → Q in AAH44566 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_068219199R → C in SNAX1. 1 PublicationCorresponds to variant rs397514478dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0238511 – 96Missing in isoform 4. 1 PublicationAdd BLAST96
Alternative sequenceiVSP_0445561 – 84Missing in isoform 6. 1 PublicationAdd BLAST84
Alternative sequenceiVSP_02385297 – 132PVETN…ICRQT → MHLLPLDSSSTLTCTVPSAC TKPPSRWRPTVDIFFV in isoform 4. 1 PublicationAdd BLAST36
Alternative sequenceiVSP_023853109 – 116ACIIAYWR → NLTPNSIW in isoform 5. 1 Publication8
Alternative sequenceiVSP_023854117 – 258Missing in isoform 5. 1 PublicationAdd BLAST142
Alternative sequenceiVSP_023855133 – 200VTLLL…WMFRI → GSSEKSSRASEQTHQEAVAC LDTQNSPACTVGCRSGPQHI PHDRMLPSASPRLCFTLLDC VSILWFSG in isoform 3. 1 PublicationAdd BLAST68
Alternative sequenceiVSP_023856170 – 258IMERI…QRLTR → VSNAKACSKLEEDTFLLFCK VRFTNKYSLTMRNLGQAQWL APIVLALWEAKAGGSLEPRS LRPALET in isoform 2. 1 PublicationAdd BLAST89
Alternative sequenceiVSP_023857201 – 258Missing in isoform 3. 1 PublicationAdd BLAST58

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS55229.1. [Q96K19-6]
CCDS55230.1. [Q96K19-3]
CCDS6138.1. [Q96K19-1]
RefSeqiNP_001153695.1. NM_001160223.1. [Q96K19-1]
NP_001153696.1. NM_001160224.1. [Q96K19-3]
NP_001153697.1. NM_001160225.1. [Q96K19-6]
NP_112216.3. NM_030954.3. [Q96K19-1]
XP_006716467.1. XM_006716404.2. [Q96K19-1]
XP_011542968.1. XM_011544666.2. [Q96K19-1]
XP_016869370.1. XM_017013881.1. [Q96K19-1]
XP_016869371.1. XM_017013882.1. [Q96K19-6]
UniGeneiHs.491626.

Genome annotation databases

EnsembliENST00000240159; ENSP00000240159; ENSG00000120925. [Q96K19-5]
ENST00000319073; ENSP00000325969; ENSG00000120925. [Q96K19-5]
ENST00000319104; ENSP00000326138; ENSG00000120925. [Q96K19-3]
ENST00000526349; ENSP00000435782; ENSG00000120925. [Q96K19-6]
ENST00000527424; ENSP00000434797; ENSG00000120925. [Q96K19-1]
ENST00000534961; ENSP00000445725; ENSG00000120925. [Q96K19-1]
GeneIDi81790.
KEGGihsa:81790.
UCSCiuc003xpm.4. human. [Q96K19-1]

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS55229.1. [Q96K19-6]
CCDS55230.1. [Q96K19-3]
CCDS6138.1. [Q96K19-1]
RefSeqiNP_001153695.1. NM_001160223.1. [Q96K19-1]
NP_001153696.1. NM_001160224.1. [Q96K19-3]
NP_001153697.1. NM_001160225.1. [Q96K19-6]
NP_112216.3. NM_030954.3. [Q96K19-1]
XP_006716467.1. XM_006716404.2. [Q96K19-1]
XP_011542968.1. XM_011544666.2. [Q96K19-1]
XP_016869370.1. XM_017013881.1. [Q96K19-1]
XP_016869371.1. XM_017013882.1. [Q96K19-6]
UniGeneiHs.491626.

3D structure databases

ProteinModelPortaliQ96K19.
SMRiQ96K19.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi123583. 29 interactors.
IntActiQ96K19. 17 interactors.
MINTiMINT-4721277.
STRINGi9606.ENSP00000434797.

PTM databases

iPTMnetiQ96K19.
PhosphoSitePlusiQ96K19.

Polymorphism and mutation databases

BioMutaiRNF170.
DMDMi134035027.

Proteomic databases

EPDiQ96K19.
MaxQBiQ96K19.
PaxDbiQ96K19.
PeptideAtlasiQ96K19.
PRIDEiQ96K19.

Protocols and materials databases

DNASUi81790.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000240159; ENSP00000240159; ENSG00000120925. [Q96K19-5]
ENST00000319073; ENSP00000325969; ENSG00000120925. [Q96K19-5]
ENST00000319104; ENSP00000326138; ENSG00000120925. [Q96K19-3]
ENST00000526349; ENSP00000435782; ENSG00000120925. [Q96K19-6]
ENST00000527424; ENSP00000434797; ENSG00000120925. [Q96K19-1]
ENST00000534961; ENSP00000445725; ENSG00000120925. [Q96K19-1]
GeneIDi81790.
KEGGihsa:81790.
UCSCiuc003xpm.4. human. [Q96K19-1]

Organism-specific databases

CTDi81790.
DisGeNETi81790.
GeneCardsiRNF170.
HGNCiHGNC:25358. RNF170.
HPAiHPA050931.
HPA054621.
MalaCardsiRNF170.
MIMi608984. phenotype.
614649. gene.
neXtProtiNX_Q96K19.
OpenTargetsiENSG00000120925.
PharmGKBiPA134922560.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2164. Eukaryota.
ENOG410XTFS. LUCA.
GeneTreeiENSGT00390000017123.
HOVERGENiHBG093906.
InParanoidiQ96K19.
KOiK15707.
OMAiAYWRYGT.
OrthoDBiEOG091G0KJ3.
PhylomeDBiQ96K19.
TreeFamiTF328342.

Enzyme and pathway databases

UniPathwayiUPA00143.

Miscellaneous databases

ChiTaRSiRNF170. human.
GenomeRNAii81790.
PROiQ96K19.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000120925.
CleanExiHS_RNF170.
ExpressionAtlasiQ96K19. baseline and differential.
GenevisibleiQ96K19. HS.

Family and domain databases

Gene3Di3.30.40.10. 1 hit.
InterProiIPR010652. DUF1232.
IPR018957. Znf_C3HC4_RING-type.
IPR001841. Znf_RING.
IPR013083. Znf_RING/FYVE/PHD.
IPR017907. Znf_RING_CS.
[Graphical view]
PfamiPF06803. DUF1232. 1 hit.
PF00097. zf-C3HC4. 1 hit.
[Graphical view]
SMARTiSM00184. RING. 1 hit.
[Graphical view]
PROSITEiPS00518. ZF_RING_1. 1 hit.
PS50089. ZF_RING_2. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiRN170_HUMAN
AccessioniPrimary (citable) accession number: Q96K19
Secondary accession number(s): D3DSY6
, E9PIL4, Q7Z483, Q86YC0, Q8IXR7, Q8N2B5, Q8N5G9, Q8NG30, Q9H0V6
Entry historyi
Integrated into UniProtKB/Swiss-Prot: March 20, 2007
Last sequence update: March 20, 2007
Last modified: November 30, 2016
This is version 114 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 8
    Human chromosome 8: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  6. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.