ARL14EP
ARL14 effector protein
Also known as: AL14E_HUMAN, ARF7EP, C11orf46, FLJ38968
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q8N8R7
- Gene
- ARL14EP
- Ensembl
- ENSG00000152219
- Chromosome
- 11
- Canonical length
- 260 aa
- Protein class
- Predicted intracellular proteins
- Subcellular location
- Nucleoplasm,Vesicles,Focal adhesion sites,Cytosol
OverviewNCBI 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]
Canonical amino-acid sequenceUniProt
260 residues, UniProt reviewed canonical sequence.
>Q8N8R7|ARL14EP
1 MMDPCSVGVQ LRTTNECHKT YYTRHTGFKT LQELSSNDML LLQLRTGMTL SGNNTICFHH
61 VKIYIDRFED LQKSCCDPFN IHKKLAKKNL HVIDLDDATF LSAKFGRQLV PGWKLCPKCT
121 QIINGSVDVD TEDRQKRKPE SDGRTAKALR SLQFTNPGRQ TEFAPETGKR EKRRLTKNAT
181 AGSDRQVIPA KSKVYDSQGL LIFSGMDLCD CLDEDCLGCF YACPACGSTK CGAECRCDRK
241 WLYEQIEIEG GEIIHNKHAGLocalizationUniProt · AlphaFold · HPA
Whether an antibody against ARL14EP can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.41
- Highest tissue expression
- 25 nTPM
Expression across tissuesHPA
Tissue
- parathyroid gland: 25 nTPM
- thyroid gland: 23 nTPM
- epididymis: 22 nTPM
- heart muscle: 21 nTPM
- adrenal gland: 21 nTPM
- lymph node: 21 nTPM
Single-cell type
- late primary spermatocytes: 206 nCPM
- oocytes: 129 nCPM
- early spermatids: 118 nCPM
- late spermatids: 78 nCPM
- corticotrophs: 62 nCPM
- early primary spermatocytes: 60 nCPM
Immune cell
- MAIT T-cell: 56 nTPM
- NK-cell: 53 nTPM
- memory B-cell: 36 nTPM
- naive B-cell: 29 nTPM
- memory CD4 T-cell: 28 nTPM
- myeloid DC: 26 nTPM
Brain region
- cerebral cortex: 24 nTPM
- cerebellum: 23 nTPM
- basal ganglia: 23 nTPM
- hippocampal formation: 22 nTPM
- choroid plexus: 22 nTPM
- hypothalamus: 20 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about ARL14EP.
Disease | GeneticClinVar
1 pathogenic / likely-pathogenic of 38 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Global developmental delay
- Abnormal facial shape
- Truncal obesity
- Microcephaly
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.69
- gnomAD pLI
- 0.38
- gnomAD missense Z
- 0.63
- DepMap mean gene effect
- 0.09
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of ARL14EP in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads ARL14EP as an antibody target. Whether an autoantibody or antibody against ARL14EP could matter depends on whether native ARL14EP is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
ARL14EP is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label ARL14EP as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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