Gene

arl13b

ID

ZDB-GENE-021217-3

Name

ADP-ribosylation factor-like 13b

Symbol

arl13b Nomenclature History

Previous Names

arl2l1 (1)
chunp6872
dkfzp761h079
fc23g07
scorpion (1)
un-named hi459 (1)
unm hi459 (1)
wu:fc23g07 (1)
zgc:123149

Type

protein_coding_gene

Location

Chr: 1 Mapping Details/Browsers

Description

Predicted to have GTP binding activity. Involved in cilium assembly and photoreceptor cell outer segment organization. Localizes to cilium. Human ortholog(s) of this gene implicated in Joubert syndrome 8. Is expressed in Kupffer's vesicle; nervous system; otic vesicle; and pronephros. Orthologous to human ARL13B (ADP ribosylation factor like GTPase 13B).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

10 figures from 6 publications

Cross-Species Comparison

High Throughput Data

GEO (1)

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

No data available

Wild Type Expression Summary

Phenotype

All Phenotype Data: 25 figures from 14 publications
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With arl13b Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
Joubert syndrome 8	Alliance	Joubert syndrome 8	612291

Associated With arl13b Via Experimental Models

Human Disease	Fish	Conditions	Citations
Joubert syndrome 8	arl13b^{hi459Tg/hi459Tg}	standard conditions	Zhu et al., 2020

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Domain	IPR005225	Small GTP-binding domain
Family	IPR006689	Small GTPase superfamily, ARF/SAR type
Family	IPR051995	Ciliary function-associated GTPase
Homologous_superfamily	IPR027417	P-loop containing nucleoside triphosphate hydrolase

Domain Details Per Protein

Protein	Length	Ciliary function-associated GTPase	P-loop containing nucleoside triphosphate hydrolase	Small GTPase superfamily, ARF/SAR type	Small GTP-binding domain
UniProtKB:Q8JHI3 InterPro	407

Transcripts

Genome Browsers

Type	Name	Annotation Method	Length (nt)	Analysis
mRNA	arl13b-201 (1) Ensembl	Ensembl	2,808 nt	Select Tool
mRNA	arl13b-202 (1) Ensembl	Ensembl	2,153 nt	Select Tool
ncRNA	arl13b-003 (1) Ensembl	Ensembl	520 nt	Select Tool

Interactions and Pathways

No data available

Antibodies

Name	Type	Antigen Genes	Isotype	Host Organism	Assay	Source	Citations
Ab1-arl13b	polyclonal	arl13b		Rabbit	IHC WB	Covance	11

Plasmids

No data available

Constructs

Marker Relationships

Sequences

Orthology

Comparative Orthology: Alliance
Gene Tree: Ensembl

Citations