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RNF144A ring finger protein 144A [ Homo sapiens (human) ]

Gene ID: 9781, updated on 13-Apr-2024

Summary

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Official Symbol
RNF144Aprovided by HGNC
Official Full Name
ring finger protein 144Aprovided by HGNC
Primary source
HGNC:HGNC:20457
See related
Ensembl:ENSG00000151692 MIM:619454; AllianceGenome:HGNC:20457
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
UIP4; hUIP4; RNF144; UBCE7IP4
Summary
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]
Expression
Ubiquitous expression in adrenal (RPKM 4.0), endometrium (RPKM 3.6) and 24 other tissues See more
Orthologs
mouse all
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Genomic context

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Location:
2p25.1
Exon count:
16
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (6917412..7076367)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (6938911..7097926)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (7057543..7216498)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11120 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15245 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11121 Neighboring gene negative regulator of interferon response Neighboring gene cytidine/uridine monophosphate kinase 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15246 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15247 Neighboring gene radical S-adenosyl methionine domain containing 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11122 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:7064883-7065296 Neighboring gene glycosaminoglycan regulatory associated long non-coding RNA Neighboring gene Sharpr-MPRA regulatory region 7309 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr2:7113462-7114661 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:7157299-7157798 Neighboring gene Sharpr-MPRA regulatory region 7427/13434 Neighboring gene Sharpr-MPRA regulatory region 3683 Neighboring gene uncharacterized LOC101929452 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15248 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:7249837-7250336 Neighboring gene uncharacterized LOC124908053 Neighboring gene RN7SK pseudogene 112 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:7318185-7318351 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr2:7330592-7331121 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:7385571-7386072 Neighboring gene uncharacterized LOC107985846 Neighboring gene cyclin-dependent kinase 2-associated protein 1-like

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. Solution structure of the zinc finger domain of human RNF144A ubiquitin ligase. Miyamoto K, et al. Protein Sci, 2020 Aug. PMID 32557973, Free PMC Article
  2. RNF144A suppresses ovarian cancer stem cell properties and tumor progression through regulation of LIN28B degradation via the ubiquitin-proteasome pathway. Li Y, et al. Cell Biol Toxicol, 2022 Oct. PMID 33978933
  3. RNF144a induces ERK-dependent cell death under oxidative stress via downregulation of vaccinia-related kinase 3. Han SH, et al. J Cell Sci, 2020 Nov 9. PMID 33067254
  4. RNF144A functions as a tumor suppressor in breast cancer through ubiquitin ligase activity-dependent regulation of stability and oncogenic functions of HSPA2. Yang YL, et al. Cell Death Differ, 2020 Mar. PMID 31406303, Free PMC Article
  5. Epigenetic silencing of RNF144A expression in breast cancer cells through promoter hypermethylation and MBD4. Zhang Y, et al. Cancer Med, 2018 Apr. PMID 29473320, Free PMC Article

See all (37) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. RNF144A exerts tumor suppressor function in breast cancer through targeting YY1 for proteasomal degradation to downregulate GMFG expression.
    Title: RNF144A exerts tumor suppressor function in breast cancer through targeting YY1 for proteasomal degradation to downregulate GMFG expression.
  2. RNF144a induces ERK-dependent cell death under oxidative stress via downregulation of vaccinia-related kinase 3.
    Title: RNF144a induces ERK-dependent cell death under oxidative stress via downregulation of vaccinia-related kinase 3.
  3. RNF144A functions as a tumor suppressor in breast cancer through ubiquitin ligase activity-dependent regulation of stability and oncogenic functions of HSPA2.
    Title: RNF144A functions as a tumor suppressor in breast cancer through ubiquitin ligase activity-dependent regulation of stability and oncogenic functions of HSPA2.
  4. Solution structure of the zinc finger domain of human RNF144A ubiquitin ligase.
    Title: Solution structure of the zinc finger domain of human RNF144A ubiquitin ligase.
  5. These findings suggest that RNF144A is epigenetically silenced in breast cancer cells by promoter hypermethylation and MBD4.
    Title: Epigenetic silencing of RNF144A expression in breast cancer cells through promoter hypermethylation and MBD4.
  6. role for RNF144A in the regulation of EGF/EGFR signaling and EGF-dependent cell proliferation.
    Title: RNF144A sustains EGFR signaling to promote EGF-dependent cell proliferation.
  7. both proper membrane localization and self-association are important for RNF144A function.
    Title: Regulation of RNF144A E3 Ubiquitin Ligase Activity by Self-association through Its Transmembrane Domain.
  8. The regulation of DNA-PKcs by RNF144A is important for proper apoptotic response during DNA damage, suggesting a tumor suppressor function for RNF144A.
    Title: RNF144A, an E3 ubiquitin ligase for DNA-PKcs, promotes apoptosis during DNA damage.
  9. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
  10. Clinical trial and genome-wide association study of gene-disease association. (HuGE Navigator)
    Title: Genomewide pharmacogenomic study of metabolic side effects to antipsychotic drugs.
Submit: New GeneRIF Correction See all GeneRIFs (11)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genomewide pharmacogenomic study of metabolic side effects to antipsychotic drugs.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • KIAA0161

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables ubiquitin conjugating enzyme binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables ubiquitin protein ligase activity EXP
Inferred from Experiment
more info
 PubMed 
enables ubiquitin protein ligase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables ubiquitin protein ligase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables zinc ion binding IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in pattern recognition receptor signaling pathway IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in protein K6-linked ubiquitination IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in protein polyubiquitination IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in protein ubiquitination TAS
Traceable Author Statement
more info
  
involved_in ubiquitin-dependent protein catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
is_active_in Golgi apparatus IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in Golgi apparatus IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
is_active_in endoplasmic reticulum membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in endosome membrane TAS
Traceable Author Statement
more info
  
located_in intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
  
located_in plasma membrane IEA
Inferred from Electronic Annotation
more info
  
part_of ubiquitin ligase complex IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
E3 ubiquitin-protein ligase RNF144A
Names
UbcM4-interacting protein 4
probable E3 ubiquitin-protein ligase RNF144A
ring finger protein 144
ubiquitin conjugating enzyme 7 interacting protein 4
NP_001336110.1
NP_001336111.1
NP_001336112.1
NP_001336113.1
NP_001336114.1
NP_001336115.1
NP_055561.2

NCBI Reference Sequences (RefSeq)

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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_001349181.2 → NP_001336110.1  E3 ubiquitin-protein ligase RNF144A isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AC017076, AC019048, AC068481, KF456627
    Conserved Domains (3) summary
    smart00647
    Location:91 → 156
    IBR; In Between Ring fingers
    pfam01485
    Location:177 → 216
    IBR; IBR domain, a half RING-finger domain
    cd16777
    Location:19 → 72
    mRING-HC-C4C4_RBR_RNF144A; Modified RING finger, HC subclass (C4C4-type), found in RING finger protein 144A (RNF144A)

  2. NM_001349182.2 → NP_001336111.1  E3 ubiquitin-protein ligase RNF144A isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' and 3' UTRs and the 3' coding region compared to variant 1. The encoded isoform (2) has a shorter and distinct C-terminus compared to isoform 1. Variants 2-5 encode the same isoform (2).
    Source sequence(s)
    AC068481, KF456627
    Consensus CDS
    CCDS1657.1
    UniProtKB/Swiss-Prot
    D6W4Y6, P50876, Q585H5
    UniProtKB/TrEMBL
    H7C3G0
    Conserved Domains (3) summary
    smart00647
    Location:91 → 156
    IBR; In Between Ring fingers
    pfam01485
    Location:177 → 216
    IBR; IBR domain, a half RING-finger domain
    cd16777
    Location:19 → 72
    mRING-HC-C4C4_RBR_RNF144A; Modified RING finger, HC subclass (C4C4-type), found in RING finger protein 144A (RNF144A)

  3. NM_001349183.2 → NP_001336112.1  E3 ubiquitin-protein ligase RNF144A isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' and 3' UTRs and the 3' coding region compared to variant 1. The encoded isoform (2) has a shorter and distinct C-terminus compared to isoform 1. Variants 2-5 encode the same isoform (2).
    Source sequence(s)
    AC068481, KF456627
    Consensus CDS
    CCDS1657.1
    UniProtKB/Swiss-Prot
    D6W4Y6, P50876, Q585H5
    UniProtKB/TrEMBL
    H7C3G0
    Conserved Domains (3) summary
    smart00647
    Location:91 → 156
    IBR; In Between Ring fingers
    pfam01485
    Location:177 → 216
    IBR; IBR domain, a half RING-finger domain
    cd16777
    Location:19 → 72
    mRING-HC-C4C4_RBR_RNF144A; Modified RING finger, HC subclass (C4C4-type), found in RING finger protein 144A (RNF144A)

  4. NM_001349184.2 → NP_001336113.1  E3 ubiquitin-protein ligase RNF144A isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) differs in the 5' and 3' UTRs and the 3' coding region compared to variant 1. The encoded isoform (2) has a shorter and distinct C-terminus compared to isoform 1. Variants 2-5 encode the same isoform (2).
    Source sequence(s)
    AC017076, AC068481, KF456627
    Consensus CDS
    CCDS1657.1
    UniProtKB/Swiss-Prot
    D6W4Y6, P50876, Q585H5
    UniProtKB/TrEMBL
    H7C3G0
    Conserved Domains (3) summary
    smart00647
    Location:91 → 156
    IBR; In Between Ring fingers
    pfam01485
    Location:177 → 216
    IBR; IBR domain, a half RING-finger domain
    cd16777
    Location:19 → 72
    mRING-HC-C4C4_RBR_RNF144A; Modified RING finger, HC subclass (C4C4-type), found in RING finger protein 144A (RNF144A)

  5. NM_001349185.2 → NP_001336114.1  E3 ubiquitin-protein ligase RNF144A isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) differs in the 3' coding region and 3' UTR compared to variant 1. The encoded isoform (3) has a shorter and distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AC017076, AC019048, AC068481, KF456627
    UniProtKB/TrEMBL
    H7C3G0
    Related
    ENSP00000411616.1, ENST00000432850.1
    Conserved Domains (3) summary
    smart00647
    Location:91 → 156
    IBR; In Between Ring fingers
    pfam01485
    Location:177 → 216
    IBR; IBR domain, a half RING-finger domain
    cd16777
    Location:19 → 72
    mRING-HC-C4C4_RBR_RNF144A; Modified RING finger, HC subclass (C4C4-type), found in RING finger protein 144A (RNF144A)

  6. NM_001349186.2 → NP_001336115.1  E3 ubiquitin-protein ligase RNF144A isoform 4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7) differs in the 5' and 3' UTRs, has multiple coding region differences, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (4) is shorter and has a distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AC017076, AC068481, KF456627
    Conserved Domains (2) summary
    smart00647
    Location:8 → 73
    IBR; In Between Ring fingers
    pfam01485
    Location:94 → 133
    IBR; IBR domain, a half RING-finger domain

  7. NM_014746.6 → NP_055561.2  E3 ubiquitin-protein ligase RNF144A isoform 2

    See identical proteins and their annotated locations for NP_055561.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 3' coding region and 3' UTR compared to variant 1. The encoded isoform (2) has a shorter and distinct C-terminus compared to isoform 1. Variants 2-5 encode the same isoform (2).
    Source sequence(s)
    AC017076, AC068481, BC050373
    Consensus CDS
    CCDS1657.1
    UniProtKB/Swiss-Prot
    D6W4Y6, P50876, Q585H5
    UniProtKB/TrEMBL
    H7C3G0
    Related
    ENSP00000321330.6, ENST00000320892.11
    Conserved Domains (3) summary
    smart00647
    Location:91 → 156
    IBR; In Between Ring fingers
    pfam01485
    Location:177 → 216
    IBR; IBR domain, a half RING-finger domain
    cd16777
    Location:19 → 72
    mRING-HC-C4C4_RBR_RNF144A; Modified RING finger, HC subclass (C4C4-type), found in RING finger protein 144A (RNF144A)

RNA

  1. NR_146069.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (8) uses an alternate 5' and 3' exon structure, compared to variant 1. This variant is represented as non-coding because it lacks the entire coding region found in variant 1.
    Source sequence(s)
    BC035051

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    6917412..7076367
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    6938911..7097926
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P50876.2 GenPept UniProtKB/Swiss-Prot:P50876

Gene LinkOut

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