Seroatlas · Human Serome Atlas

ARL13B

ADP-ribosylation factor-like protein 13B

Also known as: AR13B_HUMAN, ARL2L1, DKFZp761H079, JBTS8

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

Protein identityUniProt · HPA

UniProt accession
Q3SXY8
Gene
ARL13B
Ensembl
ENSG00000169379
Chromosome
3
Canonical length
428 aa
Protein class
Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location
Microtubules,Cytokinetic bridge,Primary cilium,Primary cilium transition zone,Basal body,Acrosome,Equatorial segment,Mid piece,Principal piece,End piece

OverviewNCBI Gene

This gene encodes a member of the ADP-ribosylation factor-like family. The encoded protein is a small GTPase that contains both N-terminal and C-terminal guanine nucleotide-binding motifs. This protein is localized in the cilia and plays a role in cilia formation and in maintenance of cilia. Mutations in this gene are the cause of Joubert syndrome 8. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010]

Canonical amino-acid sequenceUniProt

428 residues, UniProt reviewed canonical sequence.

>Q3SXY8|ARL13B
     1  MFSLMASCCG WFKRWREPVR KVTLLMVGLD NAGKTATAKG IQGEYPEDVA PTVGFSKINL
    61  RQGKFEVTIF DLGGGIRIRG IWKNYYAESY GVIFVVDSSD EERMEETKEA MSEMLRHPRI
   121  SGKPILVLAN KQDKEGALGE ADVIECLSLE KLVNEHKCLC QIEPCSAISG YGKKIDKSIK
   181  KGLYWLLHVI ARDFDALNER IQKETTEQRA LEEQEKQERA ERVRKLREER KQNEQEQAEL
   241  DGTSGLAELD PEPTNPFQPI ASVIIENEGK LEREKKNQKM EKDSDGCHLK HKMEHEQIET
   301  QGQVNHNGQK NNEFGLVENY KEALTQQLKN EDETDRPSLE SANGKKKTKK LRMKRNHRVE
   361  PLNIDDCAPE SPTPPPPPPP VGWGTPKVTR LPKLEPLGET HHNDFYRKPL PPLAVPQRPN
   421  SDAHDVIS

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ARL13B 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
Cell surface
Secreted
No
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.47
Highest tissue expression
17 nTPM

Expression across tissuesHPA

Tissue

  • retina: 17 nTPM
  • endometrium: 4.3 nTPM
  • thyroid gland: 4 nTPM
  • fallopian tube: 3.9 nTPM
  • smooth muscle: 3.9 nTPM
  • cervix: 3.8 nTPM

Single-cell type

  • rod photoreceptor cells: 611 nCPM
  • choroid plexus epithelial cells: 317 nCPM
  • cone photoreceptor cells: 240 nCPM
  • schwann cells: 218 nCPM
  • ependymal cells: 187 nCPM
  • fallopian tube ciliated cells: 167 nCPM

Immune cell

  • basophil: 6.4 nTPM
  • non-classical monocyte: 4.8 nTPM
  • plasmacytoid DC: 4.8 nTPM
  • NK-cell: 4.3 nTPM
  • intermediate monocyte: 4.2 nTPM
  • memory B-cell: 3.9 nTPM

Brain region

  • choroid plexus: 20 nTPM
  • white matter: 5.3 nTPM
  • midbrain: 5.2 nTPM
  • cerebral cortex: 5.1 nTPM
  • medulla oblongata: 4.6 nTPM
  • basal ganglia: 4.3 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about ARL13B.

Disease | AllUniProt

Conditions ARL13B is implicated in, by any mechanism.

Disease | GeneticClinVar

41 pathogenic / likely-pathogenic of 417 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)
1.04
gnomAD pLI
0
gnomAD missense Z
-0.06
DepMap mean gene effect
-0.01
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 7% 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 ARL13B 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 ARL13B as an antibody target. Whether an autoantibody or antibody against ARL13B could matter depends on whether native ARL13B is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

ARL13B is annotated at the cell surface, where native ARL13B is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.

Annotation status

The present source text does not explicitly label ARL13B as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/ARL13B. 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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