This gene encodes a member of a family of RING finger domain-containing E3 ubiquitin ligases that also includes parkin and parc. The expression of this gene is induced by DNA damage. The encoded protein interacts with the cytoplasmic DNA-dependent protein kinase, catalytic subunit (DNA-PKcs) and promotes its degradation through ubiquitination. The orthologous mouse protein has ... See more...

Aliases for RNF144A Gene

Aliases for RNF144A Gene

  • Ring Finger Protein 144A 2 3 5
  • UBCE7IP4 2 3 4
  • E3 Ubiquitin-Protein Ligase RNF144A 3 4
  • UbcM4-Interacting Protein 4 3 4
  • Ring Finger Protein 144 2 3
  • KIAA0161 2 4
  • RNF144 3 4
  • HUIP4 2 3
  • Ubiquitin Conjugating Enzyme 7 Interacting Protein 4 3
  • Ubiquitin-Conjugating Enzyme 7-Interacting Protein 4 4
  • Probable E3 Ubiquitin-Protein Ligase RNF144A 3
  • RING Finger Protein 144A 4
  • EC 2.3.2.31 4
  • EC 6.3.2 51
  • RNF144A 5

External Ids for RNF144A Gene

Previous HGNC Symbols for RNF144A Gene

  • RNF144

Previous GeneCards Identifiers for RNF144A Gene

  • GC02P006974
  • GC02P007057

Summaries for RNF144A Gene

Entrez Gene Summary for RNF144A Gene

  • This gene encodes a member of a family of RING finger domain-containing E3 ubiquitin ligases that also includes parkin and parc. The expression of this gene is induced by DNA damage. The encoded protein interacts with the cytoplasmic DNA-dependent protein kinase, catalytic subunit (DNA-PKcs) and promotes its degradation through ubiquitination. The orthologous mouse protein has been shown to interact with a ubiquitin-conjugating enzyme involved in embryonic development. [provided by RefSeq, Mar 2017]

GeneCards Summary for RNF144A Gene

RNF144A (Ring Finger Protein 144A) is a Protein Coding gene. Diseases associated with RNF144A include Parkinson Disease, Late-Onset. Among its related pathways are Metabolism of proteins and Protein ubiquitination. Gene Ontology (GO) annotations related to this gene include ligase activity. An important paralog of this gene is RNF144B.

UniProtKB/Swiss-Prot Summary for RNF144A Gene

  • E3 ubiquitin-protein ligase which accepts ubiquitin from E2 ubiquitin-conjugating enzymes UBE2L3 and UBE2L6 in the form of a thioester and then directly transfers the ubiquitin to targeted substrates. Mediates the ubiquitination and degradation of the DNA damage kinase PRKDC.

Additional gene information for RNF144A Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RNF144A Gene

Genomics for RNF144A Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for RNF144A Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02J006916 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 607.2 +0.5 489 3 CTCF HNRNPL BACH1 LARP7 ZIC2 RBFOX2 POLR2A RXRB ZNF600 FUS RNF144A GRASLND CMPK2 ENSG00000271947
GH02J006933 Promoter/Enhancer 0.7 EPDnew dbSUPER 600.4 +15.7 15653 0.1 KDM1A XRCC5 RNF144A HSALNG0012735 piR-48209-375
GH02J006915 Enhancer 0.6 ENCODE dbSUPER 600.7 -1.9 -1867 0.2 CEBPA SOX13 USF1 KDM1A SOX5 RNF144A GRASLND ENSG00000271947 CMPK2
GH02J007007 Enhancer 1.1 ENCODE dbSUPER 25.8 +92.8 92760 6.3 LEF1 IKZF1 ETV6 JUND MTA2 PKNOX1 ZNF24 MTA1 REST ZNF740 RNF144A GRASLND piR-48965-065 lnc-RNF144A-1
GH02J006992 Enhancer 1.1 Ensembl ENCODE CraniofacialAtlas dbSUPER 25.3 +76.4 76389 3.6 SP1 MNT SCRT1 NR2F2 RCOR1 ATF4 YY1 ATF2 CHD2 GATA2 piR-48965-065 RNF144A GRASLND piR-43105-336
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RNF144A on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for RNF144A

Top Transcription factor binding sites by QIAGEN in the RNF144A gene promoter:
  • AML1a
  • AREB6
  • GATA-1
  • GATA-2
  • GATA-3
  • LyF-1
  • RFX1

Genomic Locations for RNF144A Gene

Genomic Locations for RNF144A Gene
chr2:6,917,412-7,076,886
(GRCh38/hg38)
Size:
159,475 bases
Orientation:
Plus strand
chr2:7,057,523-7,208,417
(GRCh37/hg19)
Size:
150,895 bases
Orientation:
Plus strand

Genomic View for RNF144A Gene

Genes around RNF144A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RNF144A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RNF144A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RNF144A Gene

Proteins for RNF144A Gene

  • Protein details for RNF144A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P50876-R144A_HUMAN
    Recommended name:
    E3 ubiquitin-protein ligase RNF144A
    Protein Accession:
    P50876
    Secondary Accessions:
    • D6W4Y6
    • Q585H5

    Protein attributes for RNF144A Gene

    Size:
    292 amino acids
    Molecular mass:
    32890 Da
    Quaternary structure:
    • Interacts with UBE2L3.
    SequenceCaution:
    • Sequence=BAA11478.2; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for RNF144A Gene

neXtProt entry for RNF144A Gene

Selected DME Specific Peptides for RNF144A Gene

P50876:
  • EGCAQMMCKNCKH
  • CLKQYVELLIKEG
  • TPFVLCC
  • ENEIECMVA
  • GPCRNKLGHSRASV
  • CQAVCQL

Post-translational modifications for RNF144A Gene

Domains & Families for RNF144A Gene

Gene Families for RNF144A Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for RNF144A Gene

InterPro:
Blocks:
  • Zn-finger, RING
  • Zn-finger, cysteine-rich C6HC
ProtoNet:

Suggested Antigen Peptide Sequences for RNF144A Gene

GenScript: Design optimal peptide antigens:
  • Ubiquitin-conjugating enzyme 7-interacting protein 4 (R144A_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P50876

UniProtKB/Swiss-Prot:

R144A_HUMAN :
  • Members of the RBR family are atypical E3 ligases. They interact with the E2 conjugating enzyme UBE2L3 and function like HECT-type E3 enzymes: they bind E2s via the first RING domain, but require an obligate trans-thiolation step during the ubiquitin transfer, requiring a conserved cysteine residue in the second RING domain.
  • Belongs to the RBR family. RNF144 subfamily.
Domain:
  • Members of the RBR family are atypical E3 ligases. They interact with the E2 conjugating enzyme UBE2L3 and function like HECT-type E3 enzymes: they bind E2s via the first RING domain, but require an obligate trans-thiolation step during the ubiquitin transfer, requiring a conserved cysteine residue in the second RING domain.
Family:
  • Belongs to the RBR family. RNF144 subfamily.
genes like me logo Genes that share domains with RNF144A: view

Function for RNF144A Gene

Molecular function for RNF144A Gene

UniProtKB/Swiss-Prot Function:
E3 ubiquitin-protein ligase which accepts ubiquitin from E2 ubiquitin-conjugating enzymes UBE2L3 and UBE2L6 in the form of a thioester and then directly transfers the ubiquitin to targeted substrates. Mediates the ubiquitination and degradation of the DNA damage kinase PRKDC.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=[E2 ubiquitin-conjugating enzyme]-S-ubiquitinyl-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-N(6)-ubiquitinyl-L-lysine.; EC=2.3.2.31; Evidence={ECO:0000250|UniProtKB:O60260};.

Enzyme Numbers (IUBMB) for RNF144A Gene

Phenotypes From GWAS Catalog for RNF144A Gene

Gene Ontology (GO) - Molecular Function for RNF144A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004842 ubiquitin-protein transferase activity IEA --
GO:0005515 protein binding IPI 19549727
GO:0016740 transferase activity IEA --
GO:0031624 ubiquitin conjugating enzyme binding IBA 21873635
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with RNF144A: view
genes like me logo Genes that share phenotypes with RNF144A: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RNF144A

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for RNF144A Gene

Localization for RNF144A Gene

Subcellular locations from UniProtKB/Swiss-Prot for RNF144A Gene

Cell membrane. Single-pass membrane protein. Cytoplasmic vesicle membrane.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for RNF144A gene
Compartment Confidence
golgi apparatus 5
plasma membrane 4
endosome 4
nucleus 3
extracellular 1
cytoskeleton 1
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for RNF144A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000151 ubiquitin ligase complex IBA 21873635
GO:0005737 cytoplasm IBA 21873635
GO:0005794 Golgi apparatus IBA,IDA 10942595
GO:0005886 plasma membrane IEA --
GO:0010008 endosome membrane TAS --
genes like me logo Genes that share ontologies with RNF144A: view

Pathways & Interactions for RNF144A Gene

genes like me logo Genes that share pathways with RNF144A: view

UniProtKB/Swiss-Prot P50876-R144A_HUMAN

  • Pathway: Protein modification; protein ubiquitination.

Gene Ontology (GO) - Biological Process for RNF144A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000209 protein polyubiquitination IBA 21873635
GO:0006511 ubiquitin-dependent protein catabolic process IBA 21873635
GO:0016567 protein ubiquitination IEA,TAS --
GO:0032436 positive regulation of proteasomal ubiquitin-dependent protein catabolic process IBA 21873635
genes like me logo Genes that share ontologies with RNF144A: view

No data available for SIGNOR curated interactions for RNF144A Gene

Drugs & Compounds for RNF144A Gene

No Compound Related Data Available

Transcripts for RNF144A Gene

mRNA/cDNA for RNF144A Gene

7 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RNF144A

Alternative Splicing Database (ASD) splice patterns (SP) for RNF144A Gene

ExUns: 1a · 1b ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8a · 8b ^ 9 ^ 10a · 10b ^ 11a · 11b ^ 12a · 12b ^ 13 ^ 14a · 14b · 14c · 14d
SP1: - - - - - - - - - -
SP2: - - - - - - - - - - -
SP3: - - - - - - - - - - - - -
SP4:
SP5: -
SP6: - - - -
SP7: - - - - - - - -
SP8: -
SP9:
SP10: -

Relevant External Links for RNF144A Gene

GeneLoc Exon Structure for
RNF144A

Expression for RNF144A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for RNF144A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for RNF144A Gene

This gene is overexpressed in Brain - Cerebellar Hemisphere (x4.9) and Brain - Cerebellum (x4.2).

Protein differential expression in normal tissues from HIPED for RNF144A Gene

This gene is overexpressed in Platelet (63.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for RNF144A Gene



Protein tissue co-expression partners for RNF144A Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for RNF144A

SOURCE GeneReport for Unigene cluster for RNF144A Gene:

Hs.22146

Evidence on tissue expression from TISSUES for RNF144A Gene

  • Nervous system(4.3)
  • Bone marrow(4.2)
genes like me logo Genes that share expression patterns with RNF144A: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for RNF144A Gene

Orthologs for RNF144A Gene

This gene was present in the common ancestor of animals.

Orthologs for RNF144A Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia RNF144A 30 31
  • 99.54 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia RNF144A 31
  • 92 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia RNF144A 30 31
  • 91.1 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Rnf144a 30
  • 89.73 (n)
Mouse
(Mus musculus)
Mammalia Rnf144a 30 17 31
  • 89.16 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia RNF144A 30 31
  • 88.01 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia RNF144A 31
  • 77 (a)
OneToOne
Chicken
(Gallus gallus)
Aves RNF144A 30 31
  • 79.57 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia RNF144A 31
  • 83 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia rnf144a 30
  • 76.14 (n)
Zebrafish
(Danio rerio)
Actinopterygii rnf144ab 31
  • 82 (a)
OneToMany
rnf144aa 30 31
  • 78.08 (n)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005143 30
  • 58.18 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta CG33144 30 31
  • 57.93 (n)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.3687 31
  • 37 (a)
OneToMany
Species where no ortholog for RNF144A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for RNF144A Gene

ENSEMBL:
Gene Tree for RNF144A (if available)
TreeFam:
Gene Tree for RNF144A (if available)
Aminode:
Evolutionary constrained regions (ECRs) for RNF144A: view image

Paralogs for RNF144A Gene

Paralogs for RNF144A Gene

(1) SIMAP similar genes for RNF144A Gene using alignment to 3 proteins:

  • R144A_HUMAN
  • C9JLH4_HUMAN
  • H7C3G0_HUMAN
genes like me logo Genes that share paralogs with RNF144A: view

Variants for RNF144A Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for RNF144A Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
rs364891 - p.Thr4Ala

Additional dbSNP identifiers (rs#s) for RNF144A Gene

Structural Variations from Database of Genomic Variants (DGV) for RNF144A Gene

Variant ID Type Subtype PubMed ID
esv1768137 CNV deletion 17803354
esv24593 CNV loss 19812545
esv2719595 CNV deletion 23290073
esv2719597 CNV deletion 23290073
esv3589736 CNV loss 21293372
nsv1118850 CNV deletion 24896259
nsv2597 CNV insertion 18451855
nsv2598 CNV deletion 18451855
nsv508073 OTHER sequence alteration 20534489
nsv526590 CNV loss 19592680
nsv580913 CNV gain 21841781
nsv833326 CNV loss 17160897

Variation tolerance for RNF144A Gene

Residual Variation Intolerance Score: 31.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.62; 13.35% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RNF144A Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
RNF144A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RNF144A Gene

Disorders for RNF144A Gene

MalaCards: The human disease database

(1) MalaCards diseases for RNF144A Gene - From: DISEASES

Disorder Aliases PubMed IDs
parkinson disease, late-onset
  • pd
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for RNF144A

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with RNF144A: view

No data available for UniProtKB/Swiss-Prot and Genatlas for RNF144A Gene

Publications for RNF144A Gene

  1. A family of structurally related RING finger proteins interacts specifically with the ubiquitin-conjugating enzyme UbcM4. (PMID: 10431818) Martinez-Noel G … Harbers K (FEBS letters 1999) 2 3 4
  2. Prediction of the coding sequences of unidentified human genes. V. The coding sequences of 40 new genes (KIAA0161-KIAA0200) deduced by analysis of cDNA clones from human cell line KG-1. (PMID: 8724849) Nagase T … Nomura N (DNA research : an international journal for rapid publication of reports on genes and genomes 1996) 2 3 4
  3. RNF144A, an E3 ubiquitin ligase for DNA-PKcs, promotes apoptosis during DNA damage. (PMID: 24979766) Ho SR … Lin WC (Proceedings of the National Academy of Sciences of the United States of America 2014) 3 4
  4. Genomewide pharmacogenomic study of metabolic side effects to antipsychotic drugs. (PMID: 20195266) Adkins DE … van den Oord EJ (Molecular psychiatry 2011) 3 41
  5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41

Products for RNF144A Gene

Sources for RNF144A Gene