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    ARK2N arkadia (RNF111) N-terminal like PKA signaling regulator 2N [ Homo sapiens (human) ]

    Gene ID: 147339, updated on 5-Mar-2024

    Summary

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    Official Symbol
    ARK2Nprovided by HGNC
    Official Full Name
    arkadia (RNF111) N-terminal like PKA signaling regulator 2Nprovided by HGNC
    Primary source
    HGNC:HGNC:28172
    See related
    Ensembl:ENSG00000152242 AllianceGenome:HGNC:28172
    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
    ARKL1; C18orf25; RNF111L1
    Summary
    Predicted to enable ubiquitin protein ligase activity. Predicted to be involved in ubiquitin-dependent protein catabolic process. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in esophagus (RPKM 12.5), bone marrow (RPKM 9.9) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    18q21.1
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (46173553..46266992)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (46363059..46457614)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (43754000..43846955)

    Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr18:43677662-43678861 Neighboring gene tRNA-Lys (CTT) 6-1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9419 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13271 Neighboring gene ATP synthase F1 subunit alpha Neighboring gene RNA, U6 small nuclear 1278, pseudogene Neighboring gene HAUS augmin like complex subunit 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr18:43735851-43736057 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:43744621-43745122 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:43745123-43745622 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:43747273-43748134 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13272 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13273 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13274 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13275 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13276 Neighboring gene MPRA-validated peak3131 silencer Neighboring gene H3K27ac hESC enhancer GRCh37_chr18:43830134-43830769 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:43829497-43830133 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:43839023-43839587 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:43839588-43840151 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr18:43841527-43842028 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:43874443-43874944 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:43891455-43892088 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:43912812-43913423 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:43913424-43914034 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13279 Neighboring gene arkadia (RNF111) C-terminal like ring finger ubiquitin ligase 2C Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:43953278-43953778 Neighboring gene H3K27ac hESC enhancer GRCh37_chr18:43967128-43967628 Neighboring gene uncharacterized LOC105372095 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:43972627-43973160 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:43991726-43992676 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:43994577-43995525 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:44004729-44005693 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:44007521-44008096 Neighboring gene uncharacterized LOC124904293

    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. Phosphoproteomics of three exercise modalities identifies canonical signaling and C18ORF25 as an AMPK substrate regulating skeletal muscle function. Blazev R, et al. Cell Metab, 2022 Oct 4. PMID 35882232
    2. Identification of a novel protein interaction motif in the regulatory subunit of casein kinase 2. Cao JY, et al. Mol Cell Biol, 2014 Jan. PMID 24216761, Free PMC Article
    3. Identification of ARKL1 as a Negative Regulator of Epstein-Barr Virus Reactivation. Siddiqi UZ, et al. J Virol, 2019 Oct 15. PMID 31341047, Free PMC Article
    4. Candidate psychiatric illness genes identified in patients with pericentric inversions of chromosome 18. Pickard BS, et al. Psychiatr Genet, 2005 Mar. PMID 15722956
    5. Specification of SUMO1- and SUMO2-interacting motifs. Hecker CM, et al. J Biol Chem, 2006 Jun 9. PMID 16524884

    See all (42) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Phosphoproteomics of three exercise modalities identifies canonical signaling and C18ORF25 as an AMPK substrate regulating skeletal muscle function.
      Title: Phosphoproteomics of three exercise modalities identifies canonical signaling and C18ORF25 as an AMPK substrate regulating skeletal muscle function.
    2. ARKL1 binds CK2beta through the KSSR motif and this involves a polyserine sequence resembling the CK2beta binding sequence in EBNA1.
      Title: Identification of a novel protein interaction motif in the regulatory subunit of casein kinase 2.
    3. Observational study of gene-disease association. (HuGE Navigator)
      Title: Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling.
    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)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC12909, MGC87799

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables transcription corepressor activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables ubiquitin protein ligase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in negative regulation of DNA-templated transcription IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of viral life cycle IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in ubiquitin-dependent protein catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    part_of chromatin IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    protein ARK2N
    Names
    ARKadia (RNF111) N-terminal like PKA signaling regulator protein 2N
    ARKadia-like 1
    ARKadia-like protein 1
    protein C18orf25
    uncharacterized protein C18orf25

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    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_001008239.3 → NP_001008240.1  protein ARK2N isoform b

      See identical proteins and their annotated locations for NP_001008240.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (b) has the same N- and C-termini but is shorter compared to isoform a.
      Source sequence(s)
      AC021763, AC118647, KF573673
      Consensus CDS
      CCDS42431.1
      UniProtKB/Swiss-Prot
      Q96B23
      Related
      ENSP00000480074.1, ENST00000619301.4
      Conserved Domains (1) summary
      pfam15303
      Location:67 → 238
      RNF111_N; E3 ubiquitin-protein ligase Arkadia N-terminus

    2. NM_145055.5 → NP_659492.1  protein ARK2N isoform a

      See identical proteins and their annotated locations for NP_659492.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
      Source sequence(s)
      AC021763, AC118647, KF573673
      Consensus CDS
      CCDS42430.1
      UniProtKB/Swiss-Prot
      A8K123, A8KAB6, Q5BIX2, Q5XG78, Q6N058, Q86TB5, Q8TCQ5, Q96B23
      Related
      ENSP00000481626.1, ENST00000615052.5
      Conserved Domains (1) summary
      pfam15303
      Location:67 → 238
      RNF111_N; E3 ubiquitin-protein ligase Arkadia N-terminus

    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_000018.10 Reference GRCh38.p14 Primary Assembly

      Range
      46173553..46266992
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011525822.3 → XP_011524124.1  protein ARK2N isoform X1

      See identical proteins and their annotated locations for XP_011524124.1

      UniProtKB/Swiss-Prot
      A8K123, A8KAB6, Q5BIX2, Q5XG78, Q6N058, Q86TB5, Q8TCQ5, Q96B23
      Conserved Domains (1) summary
      pfam15303
      Location:67 → 238
      RNF111_N; E3 ubiquitin-protein ligase Arkadia N-terminus

    2. XM_017025555.2 → XP_016881044.1  protein ARK2N isoform X2

      UniProtKB/Swiss-Prot
      Q96B23
      Conserved Domains (1) summary
      pfam15303
      Location:67 → 238
      RNF111_N; E3 ubiquitin-protein ligase Arkadia N-terminus

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060942.1 Alternate T2T-CHM13v2.0

      Range
      46363059..46457614
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054318204.1 → XP_054174179.1  protein ARK2N isoform X1

    2. XM_054318205.1 → XP_054174180.1  protein ARK2N isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96B23.3 GenPept UniProtKB/Swiss-Prot:Q96B23

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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