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

Summary

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

Location:: 2p25.1

Exon count:: 16

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (6917412..7076367)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (6938911..7097926)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (7057543..7216498)

Chromosome 2 - NC_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
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.
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.
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.
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.
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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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 EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH102437 (e-PCR)
- UniSTS:96771

D8S2279 (e-PCR)
- UniSTS:473907

FB17A8 (e-PCR)
- UniSTS:33864

RH25379 (e-PCR)
- UniSTS:87123

L18426 (e-PCR)
- UniSTS:34648

G59639 (e-PCR)
- UniSTS:136795

D2S1607E (e-PCR)
- UniSTS:51551

SHGC-154209 (e-PCR)
- UniSTS:178018

RH118624 (e-PCR)
- UniSTS:138114

SHGC-146534 (e-PCR)
- UniSTS:175275

RNF144_795 (e-PCR)
- UniSTS:277682

RNF144_V130 (e-PCR)
- UniSTS:277682

SHGC-142856 (e-PCR)
- UniSTS:171699

D2S1683E (e-PCR)
- UniSTS:150713

SHGC-112486 (e-PCR)
- UniSTS:168661

RH75154 (e-PCR)
- UniSTS:87260

RH16628 (e-PCR)
- UniSTS:77801

SGC32235 (e-PCR)
- UniSTS:99822

D2S1971 (e-PCR)
- UniSTS:6906

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 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

EC 2.3.2.31

NP_001336111.1

EC 2.3.2.31

NP_001336112.1

EC 2.3.2.31

NP_001336113.1

EC 2.3.2.31

NP_001336114.1

EC 2.3.2.31

NP_001336115.1

EC 2.3.2.31

NP_055561.2

EC 2.3.2.31

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)

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)
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)
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)
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)
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)
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
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

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