ARK2C arkadia (RNF111) C-terminal like ring finger ubiquitin ligase 2C [Homo sapiens (human)] - Gene

Summary

Official Symbol: ARK2Cprovided by HGNC
Official Full Name: arkadia (RNF111) C-terminal like ring finger ubiquitin ligase 2Cprovided by HGNC
Primary source: HGNC:HGNC:31696
See related: Ensembl:ENSG00000141622 AllianceGenome:HGNC:31696
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: ARKL2; RNF165; lncAMPC; RNF111L2
Summary: Predicted to enable ubiquitin protein ligase activity. Predicted to be involved in motor neuron axon guidance and positive regulation of BMP signaling pathway. Predicted to act upstream of or within several processes, including forelimb morphogenesis; nervous system development; and protein polyubiquitination. Predicted to be part of protein-containing complex. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Dec 2024]
Expression: Biased expression in brain (RPKM 3.7), spleen (RPKM 1.6) and 12 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 18q21.1

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	18	NC_000018.10 (46334018..46463140)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	18	NC_060942.1 (46524603..46653701)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	18	NC_000018.9 (43913981..44043103)

Chromosome 18 - NC_000018.10 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: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.

Submit: New GeneRIF Correction

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

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

RH119246 (e-PCR)
- UniSTS:138752

D18S72 (e-PCR), detects polymorphism
- UniSTS:49678

NoName (e-PCR)
- UniSTS:484412

D18S72 (e-PCR), detects polymorphism
- UniSTS:8670

D18S914E (e-PCR)
- UniSTS:150517

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables ubiquitin protein ligase activity	IBA Inferred from Biological aspect of Ancestor more info
enables zinc ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in forelimb morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in innervation	IEA Inferred from Electronic Annotation more info
involved_in motor neuron axon guidance	IBA Inferred from Biological aspect of Ancestor more info
involved_in muscle structure development	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of BMP signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein catabolic process	IEA Inferred from Electronic Annotation more info
involved_in protein polyubiquitination	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
part_of protein-containing complex	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: E3 ubiquitin-protein ligase ARK2C

Names: E3 ubiquitin-protein ligase RNF165; lncRNA activated in metastatic PCa; ring finger protein 165

NP_001243687.1

EC 2.3.2.27

NP_689683.2

EC 2.3.2.27

XP_011524318.1

EC 2.3.2.27

XP_016881277.1

EC 2.3.2.27

XP_024306959.1

EC 2.3.2.27

XP_054174648.1

EC 2.3.2.27

XP_054174649.1

EC 2.3.2.27

XP_054174650.1

EC 2.3.2.27

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_001256758.1 → NP_001243687.1 E3 ubiquitin-protein ligase ARK2C isoform 2

See identical proteins and their annotated locations for NP_001243687.1

Status: VALIDATED

Source sequence(s)

AC018931, AK122819

Consensus CDS

CCDS58621.1

UniProtKB/Swiss-Prot

Q6ZSG1

Related

ENSP00000444285.1, ENST00000543885.2

Conserved Domains (1) summary

cd16474
Location:100 → 145

RING-H2_RNF111_like; RING finger, H2 subclass, found in RING finger proteins RNF111, RNF165, and similar proteins
NM_152470.3 → NP_689683.2 E3 ubiquitin-protein ligase ARK2C isoform 1

See identical proteins and their annotated locations for NP_689683.2

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1).

Source sequence(s)

AC015959, AC018931, AK122819, AK127467, AW160725, BM680948

Consensus CDS

CCDS32823.1

UniProtKB/Swiss-Prot

B3KVD1, Q6ZSG1

UniProtKB/TrEMBL

A0A059NXK6

Related

ENSP00000269439.6, ENST00000269439.12

Conserved Domains (1) summary

cd16474
Location:292 → 337

RING-H2_RNF111_like; RING finger, H2 subclass, found in RING finger proteins RNF111, RNF165, and similar proteins

RNA

NR_046357.2 RNA Sequence

Status: VALIDATED

Description

Transcript Variant: This variant (3) lacks several exons and uses an alternate 3' exon, compared to variant 1. This variant is represented as non-coding because it lacks a large portion of the coding region found in variant 1.

Source sequence(s)

AC015959, DA077941

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000018.10 Reference GRCh38.p14 Primary Assembly

Range

46334018..46463140

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011526016.4 → XP_011524318.1 E3 ubiquitin-protein ligase ARK2C isoform X1

See identical proteins and their annotated locations for XP_011524318.1

Conserved Domains (1) summary

cd16474
Location:260 → 305

RING-H2_RNF111_like; RING finger, H2 subclass, found in RING finger proteins RNF111, RNF165, and similar proteins
XM_017025788.3 → XP_016881277.1 E3 ubiquitin-protein ligase ARK2C isoform X2
XM_024451191.2 → XP_024306959.1 E3 ubiquitin-protein ligase ARK2C isoform X3

Conserved Domains (1) summary

cd16474
Location:100 → 145

RING-H2_RNF111_like; RING finger, H2 subclass, found in RING finger proteins RNF111, RNF165, and similar proteins