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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
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Genomic context

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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

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