Homo sapiens Gene: ARL13B
Summary
InnateDB Gene IDBG-46151.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol ARL13B
Gene Name ADP-ribosylation factor-like 13B
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000169379
Encoded Proteins
ADP-ribosylation factor-like 13B
ADP-ribosylation factor-like 13B
ADP-ribosylation factor-like 13B
ADP-ribosylation factor-like 13B
ADP-ribosylation factor-like 13B
ADP-ribosylation factor-like 13B
ADP-ribosylation factor-like 13B
ADP-ribosylation factor-like 13B
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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]
Gene Information
Type Protein coding
Genomic Location Chromosome 3:93980139-94055668
Strand Forward strand
Band q11.1
Transcripts
ENST00000335438 ENSP00000335400
ENST00000303097 ENSP00000306225
ENST00000394222 ENSP00000377769
ENST00000478400 ENSP00000417702
ENST00000471138 ENSP00000420780
ENST00000460371 ENSP00000417263
ENST00000486562
ENST00000475206 ENSP00000418128
ENST00000492165
ENST00000535334 ENSP00000445145
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 5 experimentally validated interaction(s) in this database.
Experimentally validated
Total 5 [view]
Protein-Protein 5 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
GO:0005525 GTP binding
Biological Process
GO:0001947 heart looping
GO:0006886 intracellular protein transport
GO:0007224 smoothened signaling pathway
GO:0007264 small GTPase mediated signal transduction
GO:0007368 determination of left/right symmetry
GO:0009953 dorsal/ventral pattern formation
GO:0021532 neural tube patterning
GO:0021830 interneuron migration from the subpallium to the cortex
GO:0021943 formation of radial glial scaffolds
GO:0035058 nonmotile primary cilium assembly
GO:0042384 cilium assembly
GO:0070986 left/right axis specification
Cellular Component
GO:0005622 intracellular
GO:0005929 cilium
GO:0060170 ciliary membrane
GO:0072372 primary cilium
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Not yet available
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.533086
RefSeq NM_001174150 NM_001174151 NM_144996 NM_182896 XM_006713531 XM_006713532 XM_006713533 XM_006713534
HUGO
OMIM
CCDS CCDS2924 CCDS2925 CCDS54615
HPRD 12334
IMGT
EMBL
GenPept
RNA Seq Atlas