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RNF170 ring finger protein 170 [ Homo sapiens (human) ]

Gene ID: 81790, updated on 25-May-2016
Official Symbol
RNF170provided by HGNC
Official Full Name
ring finger protein 170provided by HGNC
Primary source
HGNC:HGNC:25358
See related
Ensembl:ENSG00000120925 HPRD:13165; MIM:614649; Vega:OTTHUMG00000165277
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
ADSA; SNAX1
Summary
This gene encodes a RING domain-containing protein that resides in the endoplasmic reticulum (ER) membrane. This protein functions as an E3 ubiquitin ligase and mediates ubiquitination and processing of inositol 1,4,5-trisphosphate (IP3) receptors via the ER-associated protein degradation pathway. It is recruited to the activated IP3 receptors by the ERLIN1/ERLIN2 complex to which it is constitutively bound. Mutations in this gene are associated with autosomal dominant sensory ataxia. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jun 2012]
Orthologs
Location:
8p11.21
Exon count:
11
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 8 NC_000008.11 (42849637..42897931, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (42704780..42751866, complement)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene cholinergic receptor nicotinic alpha 6 subunit Neighboring gene THAP domain containing 1 Neighboring gene microRNA 4469 Neighboring gene hook microtubule-tethering protein 3 Neighboring gene farnesyltransferase, CAAX box, alpha Neighboring gene protein-O-mannose kinase

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Replication interactions

Interaction Pubs
Knockdown of ring finger protein 170 (RNF170) by siRNA inhibits HIV-1 replication in HeLa-derived TZM-bl cells PubMed

Go to the HIV-1, Human Interaction Database

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • FLJ38306, DKFZp564A022

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ligase activity IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
zinc ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
protein ubiquitination IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
endoplasmic reticulum membrane IEA
Inferred from Electronic Annotation
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
E3 ubiquitin-protein ligase RNF170
Names
putative LAG1-interacting protein

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_032868.1 RefSeqGene

    Range
    5001..52087
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001160223.1NP_001153695.1  E3 ubiquitin-protein ligase RNF170 isoform a

    See identical proteins and their annotated locations for NP_001153695.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a). Variants 1 and 2 encode the same isoform (a).
    Source sequence(s)
    AA973979, AC087533, BC039461, BG910500, DA751961
    Consensus CDS
    CCDS6138.1
    UniProtKB/Swiss-Prot
    Q96K19
    Related
    ENSP00000445725, ENST00000534961
    Conserved Domains (2) summary
    cd00162
    Location:87133
    RING; RING-finger (Really Interesting New Gene) domain, a specialized type of Zn-finger of 40 to 60 residues that binds two atoms of zinc; defined by the 'cross-brace' motif C-X2-C-X(9-39)-C-X(1-3)- H-X(2-3)-(N/C/H)-X2-C-X(4-48)C-X2-C; probably involved in ...
    pfam06803
    Location:200240
    DUF1232; Protein of unknown function (DUF1232)
  2. NM_001160224.1NP_001153696.1  E3 ubiquitin-protein ligase RNF170 isoform b

    See identical proteins and their annotated locations for NP_001153696.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' and 3' UTRs and has multiple coding region differences compared to variant 1. This results in a shorter isoform (b) with a distinct C-terminus, compared to isoform a.
    Source sequence(s)
    AC087533, BC032393, DA751961
    Consensus CDS
    CCDS55230.1
    UniProtKB/Swiss-Prot
    Q96K19
    Related
    ENSP00000326138, OTTHUMP00000229194, ENST00000319104, OTTHUMT00000383165
    Conserved Domains (1) summary
    cd00162
    Location:87132
    RING; RING-finger (Really Interesting New Gene) domain, a specialized type of Zn-finger of 40 to 60 residues that binds two atoms of zinc; defined by the 'cross-brace' motif C-X2-C-X(9-39)-C-X(1-3)- H-X(2-3)-(N/C/H)-X2-C-X(4-48)C-X2-C; probably involved in ...
  3. NM_001160225.1NP_001153697.1  E3 ubiquitin-protein ligase RNF170 isoform c

    See identical proteins and their annotated locations for NP_001153697.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. The resulting isoform (c) has a shorter N-terminus compared to isoform a.
    Source sequence(s)
    AA973979, AC087533, BC058289, DA751961
    Consensus CDS
    CCDS55229.1
    UniProtKB/Swiss-Prot
    Q96K19
    Related
    ENSP00000435782, OTTHUMP00000229197, ENST00000526349, OTTHUMT00000383168
    Conserved Domains (2) summary
    cd00162
    Location:349
    RING; RING-finger (Really Interesting New Gene) domain, a specialized type of Zn-finger of 40 to 60 residues that binds two atoms of zinc; defined by the 'cross-brace' motif C-X2-C-X(9-39)-C-X(1-3)- H-X(2-3)-(N/C/H)-X2-C-X(4-48)C-X2-C; probably involved in ...
    pfam06803
    Location:116156
    DUF1232; Protein of unknown function (DUF1232)
  4. NM_030954.3NP_112216.3  E3 ubiquitin-protein ligase RNF170 isoform a

    See identical proteins and their annotated locations for NP_112216.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same isoform (a).
    Source sequence(s)
    AA973979, AC087533, AK225568, DA751961
    Consensus CDS
    CCDS6138.1
    UniProtKB/Swiss-Prot
    Q96K19
    Related
    ENSP00000434797, OTTHUMP00000229195, ENST00000527424, OTTHUMT00000383166
    Conserved Domains (2) summary
    cd00162
    Location:87133
    RING; RING-finger (Really Interesting New Gene) domain, a specialized type of Zn-finger of 40 to 60 residues that binds two atoms of zinc; defined by the 'cross-brace' motif C-X2-C-X(9-39)-C-X(1-3)- H-X(2-3)-(N/C/H)-X2-C-X(4-48)C-X2-C; probably involved in ...
    pfam06803
    Location:200240
    DUF1232; Protein of unknown function (DUF1232)

RNA

  1. NR_027668.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) lacks an alternate internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AA973979, AC087533, AK090864, DA751961
  2. NR_027669.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) uses an alternate 5' exon and lacks an alternate internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AA973979, AC087533, BC013422, DA751961

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p2 Primary Assembly

    Range
    42849637..42897931 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011544666.1XP_011542968.1  

    See identical proteins and their annotated locations for XP_011542968.1

    UniProtKB/Swiss-Prot
    Q96K19
    Conserved Domains (2) summary
    cd00162
    Location:87133
    RING; RING-finger (Really Interesting New Gene) domain, a specialized type of Zn-finger of 40 to 60 residues that binds two atoms of zinc; defined by the 'cross-brace' motif C-X2-C-X(9-39)-C-X(1-3)- H-X(2-3)-(N/C/H)-X2-C-X(4-48)C-X2-C; probably involved in ...
    pfam06803
    Location:200240
    DUF1232; Protein of unknown function (DUF1232)
  2. XM_006716404.1XP_006716467.1  

    See identical proteins and their annotated locations for XP_006716467.1

    UniProtKB/Swiss-Prot
    Q96K19
    Conserved Domains (2) summary
    cd00162
    Location:87133
    RING; RING-finger (Really Interesting New Gene) domain, a specialized type of Zn-finger of 40 to 60 residues that binds two atoms of zinc; defined by the 'cross-brace' motif C-X2-C-X(9-39)-C-X(1-3)- H-X(2-3)-(N/C/H)-X2-C-X(4-48)C-X2-C; probably involved in ...
    pfam06803
    Location:200240
    DUF1232; Protein of unknown function (DUF1232)
  3. XM_006716405.1XP_006716468.1  

    Conserved Domains (1) summary
    pfam06803
    Location:150190
    DUF1232; Protein of unknown function (DUF1232)
  4. XM_006716406.2XP_006716469.1  

    See identical proteins and their annotated locations for XP_006716469.1

    UniProtKB/Swiss-Prot
    Q96K19
    Conserved Domains (2) summary
    cd00162
    Location:349
    RING; RING-finger (Really Interesting New Gene) domain, a specialized type of Zn-finger of 40 to 60 residues that binds two atoms of zinc; defined by the 'cross-brace' motif C-X2-C-X(9-39)-C-X(1-3)- H-X(2-3)-(N/C/H)-X2-C-X(4-48)C-X2-C; probably involved in ...
    pfam06803
    Location:116156
    DUF1232; Protein of unknown function (DUF1232)
  5. XM_006716407.2XP_006716470.1  

    See identical proteins and their annotated locations for XP_006716470.1

    Related
    ENSP00000436416, OTTHUMP00000229198, ENST00000531440, OTTHUMT00000383170
    Conserved Domains (1) summary
    cd00162
    Location:87132
    RING; RING-finger (Really Interesting New Gene) domain, a specialized type of Zn-finger of 40 to 60 residues that binds two atoms of zinc; defined by the 'cross-brace' motif C-X2-C-X(9-39)-C-X(1-3)- H-X(2-3)-(N/C/H)-X2-C-X(4-48)C-X2-C; probably involved in ...

RNA

  1. XR_949487.1 RNA Sequence

Alternate CHM1_1.1

Genomic

  1. NC_018919.2 Alternate CHM1_1.1

    Range
    42751675..42798772 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)