Free for academic non-profit institutions. Other users need a Commercial license

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

Regulatory Elements for ARL14EP Gene

Enhancers for ARL14EP Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH11H030322 1.4 ENCODE dbSUPER 18.9 +0.5 536 2 HDGF PKNOX1 FOXA2 MLX ARID4B SIN3A FEZF1 DMAP1 ZBTB7B YY1 ARL14EP RPL12P30 GC11P030337
GH11H030342 1.3 Ensembl ENCODE dbSUPER 16 +20.1 20143 2 PKNOX1 TBL1XR1 ZNF133 BMI1 BATF ZNF366 ATF7 ETV6 RUNX3 CREM ARL14EP GC11P030337 LOC102723403
GH11H030324 0.9 Ensembl ENCODE dbSUPER 17.7 +3.1 3105 2 RFX1 ARL14EP RPL12P30 GC11P030337
GH11H030328 0.7 dbSUPER 17 +8.3 8250 6 CTCF ZNF654 FOXA2 TRIM22 RAD21 YY1 JUND ZNF316 SMC3 HNF4G ARL14EP RPL12P30 GC11P030337
GH11H030486 1.5 FANTOM5 Ensembl ENCODE 4.8 +165.3 165326 2 PKNOX1 FOXA2 ATF1 SIN3A FEZF1 YY1 SLC30A9 KAT8 NFIL3 ZNF610 MPPED2 ARL14EP FSHB ENSG00000255480 GC11P030582
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ARL14EP on UCSC Golden Path with GeneCards custom track

Promoters for ARL14EP Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000038350 249 1801 HDGF PKNOX1 FOXA2 MLX ARID4B SIN3A FEZF1 DMAP1 ZBTB7B YY1

Genomic Location for ARL14EP Gene

Chromosome:
11
Start:
30,323,051 bp from pter
End:
30,338,458 bp from pter
Size:
15,408 bases
Orientation:
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:
    Q8N8R7-AL14E_HUMAN
    Recommended name:
    ARL14 effector protein
    Protein Accession:
    Q8N8R7
    Secondary Accessions:
    • Q5HYH9

    Protein attributes for ARL14EP Gene

    Size:
    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 Lys104, posLast=118118, and Lys257
  • 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

InterPro:
ProtoNet:

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

Phenotypes for ARL14EP Gene

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

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for ARL14EP
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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

Cytoplasm.

Subcellular locations from

COMPARTMENTS
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

None

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

Unigene Clusters for ARL14EP Gene

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

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for ARL14EP
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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

No ASD Table

Relevant External Links for ARL14EP Gene

GeneLoc Exon Structure for
ARL14EP
ECgene alternative splicing isoforms for
ARL14EP

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, PaxDb, MaxQB, and MOPED for ARL14EP Gene



Protein tissue co-expression partners for ARL14EP Gene

NURSA nuclear receptor signaling pathways regulating expression of ARL14EP Gene:

ARL14EP

SOURCE GeneReport for Unigene cluster for ARL14EP Gene:

Hs.502208

mRNA Expression by UniProt/SwissProt for ARL14EP Gene:

Q8N8R7-AL14E_HUMAN
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

Primer Products

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
chimpanzee
(Pan troglodytes)
Mammalia ARL14EP 33 34
  • 99.62 (n)
dog
(Canis familiaris)
Mammalia ARL14EP 33 34
  • 94.34 (n)
cow
(Bos Taurus)
Mammalia ARL14EP 33 34
  • 93.59 (n)
oppossum
(Monodelphis domestica)
Mammalia ARL14EP 34
  • 92 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ARL14EP 34
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Arl14ep 33 16 34
  • 87.39 (n)
rat
(Rattus norvegicus)
Mammalia Arl14ep 33
  • 87 (n)
chicken
(Gallus gallus)
Aves C5H11ORF46 33
  • 79.79 (n)
ARL14EP 34
  • 79 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ARL14EP 34
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia arl14ep 33
  • 65.59 (n)
Str.6132 33
zebrafish
(Danio rerio)
Actinopterygii arl14ep 34
  • 36 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG14464 34
  • 30 (a)
OneToMany
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

ENSEMBL:
Gene Tree for ARL14EP (if available)
TreeFam:
Gene Tree for ARL14EP (if available)

Paralogs for ARL14EP Gene

Paralogs for ARL14EP Gene

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

Pseudogenes.org 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 Sequence Context AA Info Type
rs730882201 Likely pathogenic 30,336,665(+) CTTAG(A/G)ATGTT reference, missense
rs1000009799 -- 30,338,353(+) TTTTG(C/G)GGGTG downstream-variant-500B, utr-variant-3-prime
rs1000273552 -- 30,323,590(+) TCCTT(G/T)CAACC intron-variant, upstream-variant-2KB
rs1000306076 -- 30,323,374(+) TACCC(C/T)CGCGT intron-variant, upstream-variant-2KB
rs1000380091 -- 30,323,209(+) TGGAA(A/C/G)GGGAA intron-variant, upstream-variant-2KB

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)

Relevant External Links for ARL14EP Gene

Human Gene Mutation Database (HGMD)
ARL14EP
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ARL14EP

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

Disorders for ARL14EP Gene

Relevant External Links for ARL14EP

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 60
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60
  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 60
  4. 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 60
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 60

Products for ARL14EP Gene

Sources for ARL14EP Gene

Content
Loading form....