Seroatlas · Human Serome Atlas

ARL6

ADP-ribosylation factor-like protein 6

Also known as: ARL6_HUMAN, BBS3, RP55

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
Q9H0F7
Gene
ARL6
Ensembl
ENSG00000113966
Chromosome
3
Canonical length
186 aa
Protein class
Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location
Nucleoplasm,Vesicles,Microtubules,Primary cilium,Cytosol

OverviewNCBI Gene

The protein encoded by this gene belongs to the ARF-like (ADP ribosylation factor-like) sub-family of the ARF family of GTP-binding proteins which are involved in regulation of intracellular traffic. Mutations in this gene are associated with Bardet-Biedl syndrome (BBS). A vision-specific transcript, encoding long isoform BBS3L, has been described (PMID: 20333246). [provided by RefSeq, Apr 2016]

Canonical amino-acid sequenceUniProt

186 residues, UniProt reviewed canonical sequence.

>Q9H0F7|ARL6
     1  MGLLDRLSVL LGLKKKEVHV LCLGLDNSGK TTIINKLKPS NAQSQNILPT IGFSIEKFKS
    61  SSLSFTVFDM SGQGRYRNLW EHYYKEGQAI IFVIDSSDRL RMVVAKEELD TLLNHPDIKH
   121  RRIPILFFAN KMDLRDAVTS VKVSQLLCLE NIKDKPWHIC ASDAIKGEGL QEGVDWLQDQ
   181  IQTVKT

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ARL6 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)
0.27
Highest tissue expression
35 nTPM

Expression across tissuesHPA

Tissue

  • retina: 35 nTPM
  • parathyroid gland: 12 nTPM
  • cerebral cortex: 7.5 nTPM
  • kidney: 7 nTPM
  • fallopian tube: 6.6 nTPM
  • basal ganglia: 6.1 nTPM

Single-cell type

  • rod photoreceptor cells: 230 nCPM
  • respiratory ciliated cells: 136 nCPM
  • cone photoreceptor cells: 135 nCPM
  • ependymal cells: 104 nCPM
  • late primary spermatocytes: 74 nCPM
  • corticotrophs: 71 nCPM

Immune cell

  • NK-cell: 3.7 nTPM
  • MAIT T-cell: 2.5 nTPM
  • T-reg: 2.5 nTPM
  • naive CD4 T-cell: 2 nTPM
  • naive B-cell: 1.7 nTPM
  • memory CD8 T-cell: 1.5 nTPM

Brain region

  • choroid plexus: 13 nTPM
  • hippocampal formation: 13 nTPM
  • hypothalamus: 11 nTPM
  • cerebral cortex: 11 nTPM
  • basal ganglia: 11 nTPM
  • spinal cord: 8.9 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about ARL6.

Disease | AllUniProt

Conditions ARL6 is implicated in, by any mechanism.

Disease | GeneticClinVar

52 pathogenic / likely-pathogenic of 299 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

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)
0.92
gnomAD pLI
0.01
gnomAD missense Z
0.56
DepMap mean gene effect
0.09
DepMap dependency class
none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of ARL6 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 ARL6 as an antibody target. Whether an autoantibody or antibody against ARL6 could matter depends on whether native ARL6 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

ARL6 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 ARL6 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/ARL6. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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