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    ARL14EP ADP ribosylation factor like GTPase 14 effector protein [ Homo sapiens (human) ]

    Gene ID: 120534, updated on 17-Mar-2024

    Summary

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    Official Symbol
    ARL14EPprovided by HGNC
    Official Full Name
    ADP ribosylation factor like GTPase 14 effector proteinprovided by HGNC
    Primary source
    HGNC:HGNC:26798
    See related
    Ensembl:ENSG00000152219 MIM:612295; AllianceGenome:HGNC:26798
    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
    ARF7EP; C11orf46; dJ299F11.1
    Summary
    The protein encoded by this gene is an effector protein. It interacts with ADP-ribosylation factor-like 14 [ARL14, also known as ADP-ribosylation factor 7 (ARF7)], beta-actin (ACTB) and actin-based motor protein myosin 1E (MYO1E). ARL14 is a small GTPase; it controls the export of major histocompatibility class II molecules by connecting to the actin network via this effector protein. [provided by RefSeq, Sep 2014]
    Expression
    Ubiquitous expression in thyroid (RPKM 13.3), adrenal (RPKM 11.0) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ARL14EP in Genome Data Viewer
    Location:
    11p14.1
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (30323104..30338223)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (30457405..30472507)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (30344651..30359770)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107984321 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr11:30046639-30047208 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr11:30047209-30047776 Neighboring gene ARL14EP divergent transcript Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:30077713-30078416 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:30078417-30079118 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr11:30218865-30220064 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4554 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:30289916-30290416 Neighboring gene follicle stimulating hormone subunit beta Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3213 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3214 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:30344313-30344918 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3216 Neighboring gene uncharacterized LOC102723403 Neighboring gene ribosomal protein L12 pseudogene 30

    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. Transcriptome-wide association analyses identify an association between ARL14EP and polycystic ovary syndrome. Lyle SM, et al. J Hum Genet, 2023 May. PMID 36720993
    2. In vivo epigenetic editing of Sema6a promoter reverses transcallosal dysconnectivity caused by C11orf46/Arl14ep risk gene. Peter CJ, et al. Nat Commun, 2019 Sep 11. PMID 31511512, Free PMC Article
    3. A Genome-wide multidimensional RNAi screen reveals pathways controlling MHC class II antigen presentation. Paul P, et al. Cell, 2011 Apr 15. PMID 21458045
    4. A 7.5 Mb sequence-ready PAC contig and gene expression map of human chromosome 11p13-p14.1. Gawin B, et al. Genome Res, 1999 Nov. PMID 10568747, Free PMC Article
    5. Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations. Connaughton DM, et al. Am J Hum Genet, 2020 Oct 1. PMID 32891193, Free PMC Article

    See all (24) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Structural evidence for protein-protein interaction between the non-canonical methyl-CpG-binding domain of SETDB proteins and C11orf46.
      Title: Structural evidence for protein-protein interaction between the non-canonical methyl-CpG-binding domain of SETDB proteins and C11orf46.
    2. Transcriptome-wide association analyses identify an association between ARL14EP and polycystic ovary syndrome.
      Title: Transcriptome-wide association analyses identify an association between ARL14EP and polycystic ovary syndrome.
    3. RNA-guided epigenetic editing of Sema6a gene promoters via a dCas9-SunTag system with C11orf46 binding normalized SEMA6A expression and rescued transcallosal dysconnectivity via repressive chromatin remodeling by the SETDB1 repressor complex.
      Title: In vivo epigenetic editing of Sema6a promoter reverses transcallosal dysconnectivity caused by C11orf46/Arl14ep risk gene.
    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

    • FLJ38968, FLJ45602

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in focal adhesion IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in intracellular membrane-bounded organelle IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleolus IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    ARL14 effector protein
    Names
    ADP-ribosylation factor-like 14 effector protein
    ARF7 effector protein

    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.

    Genomic

    1. NG_034234.1 RefSeqGene

      Range
      5003..20122
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_881

    mRNA and Protein(s)

    1. NM_152316.3 → NP_689529.1  ARL14 effector protein

      See identical proteins and their annotated locations for NP_689529.1

      Status: REVIEWED

      Source sequence(s)
      AK096287, AV714521, BM674118, BX647617
      Consensus CDS
      CCDS7869.1
      UniProtKB/Swiss-Prot
      Q5HYH9, Q8N8R7
      Related
      ENSP00000282032.3, ENST00000282032.4
      Conserved Domains (1) summary
      pfam14949
      Location:146 → 249
      ARF7EP_C; ARF7 effector protein C-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_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      30323104..30338223
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005252792.5 → XP_005252849.1  ARL14 effector protein isoform X1

      Conserved Domains (1) summary
      pfam14949
      Location:34 → 137
      ARF7EP_C; ARF7 effector protein C-terminus

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      30457405..30472507
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054367685.1 → XP_054223660.1  ARL14 effector protein isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8N8R7.1 GenPept UniProtKB/Swiss-Prot:Q8N8R7

    Gene LinkOut

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

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