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Aliases for ARL14EP Gene

Aliases for ARL14EP Gene

  • ADP Ribosylation Factor Like GTPase 14 Effector Protein 2 3 5
  • ARF7 Effector Protein 3 4
  • C11orf46 3 4
  • ARF7EP 3 4
  • ADP-Ribosylation Factor Like GTPase 14 Effector Protein 2
  • ADP-Ribosylation Factor-Like 14 Effector Protein 3
  • Chromosome 11 Open Reading Frame 46 2
  • ARL14 Effector Protein 3
  • DJ299F11.1 3

External Ids for ARL14EP Gene

Previous HGNC Symbols for ARL14EP Gene

  • C11orf46

Previous GeneCards Identifiers for ARL14EP Gene

  • GC11P030344

Summaries for ARL14EP Gene

Entrez Gene Summary for ARL14EP Gene

  • 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]

GeneCards Summary for ARL14EP Gene

ARL14EP (ADP Ribosylation Factor Like GTPase 14 Effector Protein) is a Protein Coding gene. An important paralog of this gene is ARL14EPL.

UniProtKB/Swiss-Prot for ARL14EP Gene

  • Through its interaction with ARL14 and MYO1E, may connect MHC class II-containing cytoplasmic vesicles to the actin network and hence controls the movement of these vesicles along the actin cytoskeleton in dendritic cells.

Additional gene information for ARL14EP Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ARL14EP Gene

Genomics for ARL14EP Gene

GeneHancer (GH) Regulatory Elements for ARL14EP Gene

Promoters and enhancers for ARL14EP Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH11J030322 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 669 +0.5 536 2.4 HDGF PKNOX1 FOXA2 SMAD1 ARNT MLX ARID4B SIN3A FEZF1 DMAP1 ARL14EP LOC105376607 RPL12P30 GC11P030337
GH11J030342 Enhancer 1.2 Ensembl ENCODE dbSUPER 16 +20.1 20142 2.3 PKNOX1 ZNF133 BMI1 BATF IRF4 ZNF366 ATF7 ETV6 BCLAF1 IKZF2 ARL14EP GC11P030337 LOC102723403
GH11J030324 Enhancer 0.7 Ensembl ENCODE dbSUPER 17.7 +3.1 3105 2.5 RFX1 ARL14EP RPL12P30 GC11P030337
GH11J030328 Enhancer 0.6 dbSUPER 17.1 +8.3 8250 6.2 CTCF ZNF654 FOXA2 TRIM22 RAD21 YY1 SP1 JUND ZNF316 EGR1 ARL14EP RPL12P30 GC11P030337
GH11J030486 Enhancer 1.4 FANTOM5 Ensembl ENCODE 4.8 +165.3 165325 2.8 PKNOX1 FOXA2 SIN3A FEZF1 YY1 SLC30A9 ZNF213 RXRA KAT8 NFIL3 MPPED2 ARL14EP FSHB ENSG00000255480 GC11P030582
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ARL14EP on UCSC Golden Path with GeneCards custom track

Genomic Locations for ARL14EP Gene

Genomic Locations for ARL14EP Gene
15,408 bases
Plus strand
15,177 bases
Plus strand

Genomic View for ARL14EP Gene

Genes around ARL14EP on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ARL14EP Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ARL14EP Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ARL14EP Gene

Proteins for ARL14EP Gene

  • Protein details for ARL14EP Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    ARL14 effector protein
    Protein Accession:
    Secondary Accessions:
    • Q5HYH9

    Protein attributes for ARL14EP Gene

    260 amino acids
    Molecular mass:
    29338 Da
    Quaternary structure:
    • Interacts with ARL14 and MYO1E.

neXtProt entry for ARL14EP Gene

Post-translational modifications for ARL14EP Gene

  • Ubiquitination at posLast=257257, Lys118, and posLast=104104
  • Modification sites at PhosphoSitePlus

Other Protein References for ARL14EP Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for ARL14EP Gene

Domains & Families for ARL14EP Gene

Gene Families for ARL14EP Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for ARL14EP Gene


Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with ARL14EP: view

No data available for Suggested Antigen Peptide Sequences and UniProtKB/Swiss-Prot for ARL14EP Gene

Function for ARL14EP Gene

Molecular function for ARL14EP Gene

UniProtKB/Swiss-Prot Function:
Through its interaction with ARL14 and MYO1E, may connect MHC class II-containing cytoplasmic vesicles to the actin network and hence controls the movement of these vesicles along the actin cytoskeleton in dendritic cells.

Gene Ontology (GO) - Molecular Function for ARL14EP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 21458045
genes like me logo Genes that share ontologies with ARL14EP: view
genes like me logo Genes that share phenotypes with ARL14EP: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ARL14EP

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ARL14EP Gene

Localization for ARL14EP Gene

Subcellular locations from UniProtKB/Swiss-Prot for ARL14EP Gene


Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ARL14EP gene
Compartment Confidence
plasma membrane 5
nucleus 5
cytosol 5

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Focal adhesion sites (2)
  • Vesicles (2)
  • Nucleus (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ARL14EP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA --
GO:0005730 nucleolus IDA --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol IDA --
GO:0005886 plasma membrane IDA --
genes like me logo Genes that share ontologies with ARL14EP: view

Pathways & Interactions for ARL14EP Gene

SuperPathways for ARL14EP Gene

No Data Available

Gene Ontology (GO) - Biological Process for ARL14EP Gene


No data available for Pathways by source and SIGNOR curated interactions for ARL14EP Gene

Drugs & Compounds for ARL14EP Gene

No Compound Related Data Available

Transcripts for ARL14EP Gene

mRNA/cDNA for ARL14EP Gene

(2) REFSEQ mRNAs :
(4) Additional mRNA sequences :
(164) Selected AceView cDNA sequences:
(4) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for ARL14EP Gene

ADP-ribosylation factor-like 14 effector protein:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ARL14EP

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ARL14EP Gene

No ASD Table

Relevant External Links for ARL14EP Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for ARL14EP Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ARL14EP Gene

Protein differential expression in normal tissues from HIPED for ARL14EP Gene

This gene is overexpressed in Peripheral blood mononuclear cells (28.0), Spleen (13.3), CD4 Tcells (7.8), Ovary (7.2), and Fetal testis (7.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ARL14EP Gene

Protein tissue co-expression partners for ARL14EP Gene

NURSA nuclear receptor signaling pathways regulating expression of ARL14EP Gene:


SOURCE GeneReport for Unigene cluster for ARL14EP Gene:


mRNA Expression by UniProt/SwissProt for ARL14EP Gene:

Tissue specificity: Expressed in the immune system.

Evidence on tissue expression from TISSUES for ARL14EP Gene

  • Heart(4.2)
  • Skin(4.2)
genes like me logo Genes that share expression patterns with ARL14EP: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for ARL14EP Gene

Orthologs for ARL14EP Gene

This gene was present in the common ancestor of animals.

Orthologs for ARL14EP Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia ARL14EP 34 33
  • 99.62 (n)
(Canis familiaris)
Mammalia ARL14EP 34 33
  • 94.34 (n)
(Bos Taurus)
Mammalia ARL14EP 34 33
  • 93.59 (n)
(Monodelphis domestica)
Mammalia ARL14EP 34
  • 92 (a)
(Ornithorhynchus anatinus)
Mammalia ARL14EP 34
  • 89 (a)
(Mus musculus)
Mammalia Arl14ep 16 34 33
  • 87.39 (n)
(Rattus norvegicus)
Mammalia Arl14ep 33
  • 87 (n)
(Gallus gallus)
Aves C5H11ORF46 33
  • 79.79 (n)
ARL14EP 34
  • 79 (a)
(Anolis carolinensis)
Reptilia ARL14EP 34
  • 76 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia arl14ep 33
  • 65.59 (n)
Str.6132 33
(Danio rerio)
Actinopterygii arl14ep 34
  • 36 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG14464 34
  • 30 (a)
Species where no ortholog for ARL14EP was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for ARL14EP Gene

Gene Tree for ARL14EP (if available)
Gene Tree for ARL14EP (if available)
Evolutionary constrained regions (ECRs) for ARL14EP: view image

Paralogs for ARL14EP Gene

Paralogs for ARL14EP Gene

(1) SIMAP similar genes for ARL14EP Gene using alignment to 2 proteins:

  • E9PRK7_HUMAN Pseudogenes for ARL14EP Gene

genes like me logo Genes that share paralogs with ARL14EP: view

Variants for ARL14EP Gene

Sequence variations from dbSNP and Humsavar for ARL14EP Gene

SNP ID Clin Chr 11 pos Variation AA Info Type
rs730882201 likely-pathogenic, Abnormal facial shape, Global developmental delay, Microcephaly, Truncal obesity, not provided 30,336,665(+) G/A coding_sequence_variant, missense_variant
rs1000009799 -- 30,338,353(+) G/C 3_prime_UTR_variant, downstream_transcript_variant, genic_downstream_transcript_variant
rs1000273552 -- 30,323,590(+) T/G intron_variant
rs1000306076 -- 30,323,374(+) C/T intron_variant
rs1000380091 -- 30,323,209(+) G/A/C intron_variant

Structural Variations from Database of Genomic Variants (DGV) for ARL14EP Gene

Variant ID Type Subtype PubMed ID
nsv437712 CNV loss 16327808

Variation tolerance for ARL14EP Gene

Residual Variation Intolerance Score: 31.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.31; 6.91% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ARL14EP Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ARL14EP Gene

Disorders for ARL14EP Gene

Additional Disease Information for ARL14EP

No disorders were found for ARL14EP Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ARL14EP Gene

Publications for ARL14EP Gene

  1. A Genome-wide multidimensional RNAi screen reveals pathways controlling MHC class II antigen presentation. (PMID: 21458045) Paul P … Neefjes J (Cell 2011) 2 3 4 58
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  5. Site-specific mapping of the human SUMO proteome reveals co-modification with phosphorylation. (PMID: 28112733) Hendriks IA … Nielsen ML (Nature structural & molecular biology 2017) 4 58

Products for ARL14EP Gene

Sources for ARL14EP Gene

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