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RNF130 ring finger protein 130 [ Homo sapiens (human) ]

Gene ID: 55819, updated on 17-Jun-2019

Summary

Official Symbol
RNF130provided by HGNC
Official Full Name
ring finger protein 130provided by HGNC
Primary source
HGNC:HGNC:18280
See related
Ensembl:ENSG00000113269
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
GP; G1RZFP; GOLIATH
Summary
The protein encoded by this gene contains a RING finger motif and is similar to g1, a Drosophila zinc-finger protein that is expressed in mesoderm and involved in embryonic development. The expression of the mouse counterpart was found to be upregulated in myeloblastic cells following IL3 deprivation, suggesting that this gene may regulate growth factor withdrawal-induced apoptosis of myeloid precursor cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
Expression
Ubiquitous expression in fat (RPKM 11.3), brain (RPKM 9.7) and 25 other tissues See more
Orthologs

Genomic context

See RNF130 in Genome Data Viewer
Location:
5q35.3
Exon count:
10
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (179911651..180071759, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (179382067..179499118, complement)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC100996419 Neighboring gene TBC1 domain family member 9B Neighboring gene dnaJ homolog subfamily B member 6-like Neighboring gene ribosomal protein S15a pseudogene 18 Neighboring gene microRNA 340 Neighboring gene GATA motif-containing MPRA enhancer 81 Neighboring gene histone PARylation factor 1 pseudogene

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?

Phenotypes

NHGRI GWAS Catalog

Description
Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project.
NHGRI GWA Catalog

Pathways from BioSystems

  • Adaptive Immune System, organism-specific biosystem (from REACTOME)
    Adaptive Immune System, organism-specific biosystemAdaptive immunity refers to antigen-specific immune response efficiently involved in clearing the pathogens. The adaptive immune system is comprised of B and T lymphocytes that express receptors with...
  • Antigen processing: Ubiquitination & Proteasome degradation, organism-specific biosystem (from REACTOME)
    Antigen processing: Ubiquitination & Proteasome degradation, organism-specific biosystemIntracellular foreign or aberrant host proteins are cleaved into peptide fragments of a precise size, such that they can be loaded on to class I MHC molecules and presented externally to cytotoxic T ...
  • Class I MHC mediated antigen processing & presentation, organism-specific biosystem (from REACTOME)
    Class I MHC mediated antigen processing & presentation, organism-specific biosystemMajor histocompatibility complex (MHC) class I molecules play an important role in cell mediated immunity by reporting on intracellular events such as viral infection, the presence of intracellular b...
  • Immune System, organism-specific biosystem (from REACTOME)
    Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC99542, MGC117241, MGC138647

Gene Ontology Provided by GOA

Function Evidence Code Pubs
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
ubiquitin protein ligase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ubiquitin-protein transferase activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
apoptotic process IEA
Inferred from Electronic Annotation
more info
 
programmed cell death ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
protein ubiquitination IEA
Inferred from Electronic Annotation
more info
 
ubiquitin-dependent protein catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
E3 ubiquitin-protein ligase RNF130
Names
RING-type E3 ubiquitin transferase RNF130
g1-related zinc finger protein
goliath homolog
NP_001267730.1
NP_060904.2
XP_011532895.1
XP_024301897.1

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.

mRNA and Protein(s)

  1. NM_001280801.2NP_001267730.1  E3 ubiquitin-protein ligase RNF130 isoform 2 precursor

    See identical proteins and their annotated locations for NP_001267730.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an exon in the 3' coding region, which results in a frameshift and an early stop codon, compared to variant 1. The encoded isoform (2) is shorter and has a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AA339219, AB209800, BP390145, DB572650
    Consensus CDS
    CCDS64340.1
    UniProtKB/Swiss-Prot
    Q86XS8
    Related
    ENSP00000261947.4, ENST00000261947.4
    Conserved Domains (3) summary
    cd02122
    Location:40179
    PA_GRAIL_like; PA _GRAIL_like: Protease-associated (PA) domain GRAIL-like. This group includes PA domain containing E3 (ubiquitin ligases) similar to human GRAIL (gene related to anergy in lymphocytes) protein. Proteins in this group contain a C3H2C3 RING finger. E3 ...
    cd16803
    Location:262310
    RING-H2_RNF130; RING finger, H2 subclass, found in RING finger protein 130 (RNF130) and similar proteins
    cl26329
    Location:197306
    zf-rbx1; RING-H2 zinc finger domain
  2. NM_018434.6NP_060904.2  E3 ubiquitin-protein ligase RNF130 isoform 1 precursor

    See identical proteins and their annotated locations for NP_060904.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AA339219, AB209800, AK313089, BC017100, BP390145, DB572650
    Consensus CDS
    CCDS4451.1
    UniProtKB/Swiss-Prot
    Q86XS8
    UniProtKB/TrEMBL
    Q2HIY3
    Related
    ENSP00000430237.1, ENST00000521389.6
    Conserved Domains (3) summary
    cd02122
    Location:40179
    PA_GRAIL_like; PA _GRAIL_like: Protease-associated (PA) domain GRAIL-like. This group includes PA domain containing E3 (ubiquitin ligases) similar to human GRAIL (gene related to anergy in lymphocytes) protein. Proteins in this group contain a C3H2C3 RING finger. E3 ...
    cd16803
    Location:262310
    RING-H2_RNF130; RING finger, H2 subclass, found in RING finger protein 130 (RNF130) and similar proteins
    cl26329
    Location:197306
    zf-rbx1; RING-H2 zinc finger domain

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_000005.10 Reference GRCh38.p13 Primary Assembly

    Range
    179911651..180071759 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011534593.3XP_011532895.1  E3 ubiquitin-protein ligase RNF130 isoform X2

    UniProtKB/TrEMBL
    E5RI87
    Related
    ENSP00000429509.1, ENST00000522208.6
    Conserved Domains (3) summary
    cd02122
    Location:40179
    PA_GRAIL_like; PA _GRAIL_like: Protease-associated (PA) domain GRAIL-like. This group includes PA domain containing E3 (ubiquitin ligases) similar to human GRAIL (gene related to anergy in lymphocytes) protein. Proteins in this group contain a C3H2C3 RING finger. E3 ...
    cd16803
    Location:262310
    RING-H2_RNF130; RING finger, H2 subclass, found in RING finger protein 130 (RNF130) and similar proteins
    cl26329
    Location:197306
    zf-rbx1; RING-H2 zinc finger domain
  2. XM_024446129.1XP_024301897.1  E3 ubiquitin-protein ligase RNF130 isoform X1

    Conserved Domains (3) summary
    cd02122
    Location:40179
    PA_GRAIL_like; PA _GRAIL_like: Protease-associated (PA) domain GRAIL-like. This group includes PA domain containing E3 (ubiquitin ligases) similar to human GRAIL (gene related to anergy in lymphocytes) protein. Proteins in this group contain a C3H2C3 RING finger. E3 ...
    cl17238
    Location:262310
    RING_Ubox; The superfamily of RING finger (Really Interesting New Gene) domain and U-box domain
    cl26329
    Location:197306
    zf-rbx1; RING-H2 zinc finger domain
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