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

    Gene ID: 81790, updated on 15-Jun-2019

    Summary

    Official Symbol
    RNF170provided by HGNC
    Official Full Name
    ring finger protein 170provided by HGNC
    Primary source
    HGNC:HGNC:25358
    See related
    Ensembl:ENSG00000120925 MIM:614649
    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]
    Expression
    Ubiquitous expression in thyroid (RPKM 10.8), brain (RPKM 6.2) and 24 other tissues See more
    Orthologs

    Genomic context

    See RNF170 in Genome Data Viewer
    Location:
    8p11.21
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 8 NC_000008.11 (42849637..42897294, 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 RNA, 7SL, cytoplasmic 806, pseudogene Neighboring gene microRNA 4469 Neighboring gene hook microtubule tethering protein 3 Neighboring gene RNA, U1 small nuclear 124, pseudogene Neighboring gene farnesyltransferase, CAAX box, alpha Neighboring gene protein O-mannose kinase

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    HIV-1 interactions

    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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ38306, DKFZp564A022

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    ubiquitin protein ligase activity 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
     

    General protein information

    Preferred Names
    E3 ubiquitin-protein ligase RNF170
    Names
    RING-type E3 ubiquitin transferase RNF170
    putative LAG1-interacting protein
    NP_001153695.1
    NP_001153696.1
    NP_001153697.1
    NP_112216.3
    XP_006716467.1
    XP_006716468.1
    XP_011542968.1
    XP_016869370.1
    XP_016869371.1

    NCBI Reference Sequences (RefSeq)

    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
      ENSP00000445725.1, ENST00000534961.5
      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:203239
      DUF1232; Protein of unknown function (DUF1232)
    2. NM_001160224.2NP_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
      ENSP00000326138.3, ENST00000319104.7
      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_001160225.2NP_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
      Consensus CDS
      CCDS55229.1
      UniProtKB/Swiss-Prot
      Q96K19
      Related
      ENSP00000435782.1, ENST00000526349.5
      Conserved Domains (2) summary
      pfam06803
      Location:119153
      DUF1232; Protein of unknown function (DUF1232)
      cd16553
      Location:346
      RING-HC_RNF170; RING finger, HC subclass, found in RING finger protein 170 (RNF170) and similar proteins
    4. NM_030954.4NP_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
      Consensus CDS
      CCDS6138.1
      UniProtKB/Swiss-Prot
      Q96K19
      Related
      ENSP00000434797.1, ENST00000527424.6
      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:203239
      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 109

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p13 Primary Assembly

      Range
      42849637..42897294 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011544666.3XP_011542968.1  E3 ubiquitin-protein ligase RNF170 isoform X1

      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:203239
      DUF1232; Protein of unknown function (DUF1232)
    2. XM_006716405.3XP_006716468.1  E3 ubiquitin-protein ligase RNF170 isoform X2

      Conserved Domains (1) summary
      pfam06803
      Location:153189
      DUF1232; Protein of unknown function (DUF1232)
    3. XM_017013882.2XP_016869371.1  E3 ubiquitin-protein ligase RNF170 isoform X3

      UniProtKB/Swiss-Prot
      Q96K19
      Conserved Domains (2) summary
      pfam06803
      Location:119153
      DUF1232; Protein of unknown function (DUF1232)
      cd16553
      Location:346
      RING-HC_RNF170; RING finger, HC subclass, found in RING finger protein 170 (RNF170) and similar proteins
    4. XM_006716404.2XP_006716467.1  E3 ubiquitin-protein ligase RNF170 isoform X1

      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:203239
      DUF1232; Protein of unknown function (DUF1232)
    5. XM_017013881.1XP_016869370.1  E3 ubiquitin-protein ligase RNF170 isoform X1

      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:203239
      DUF1232; Protein of unknown function (DUF1232)

    RNA

    1. XR_001745605.1 RNA Sequence

    2. XR_001745604.2 RNA Sequence

    3. XR_002956649.1 RNA Sequence

    4. XR_002956648.1 RNA Sequence

    5. XR_001745606.1 RNA Sequence

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