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ARL13B

GENERAL INFORMATION

Gene name

 ARL13B

Gene description

 ADP-ribosylation factor-like 13B

Protein class

 Disease related genes
Predicted intracellular proteins

Predicted localization

 Intracellular

Number of transcripts

 4
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category
HPA:Mixed
GTEx:Mixed
FANTOM5:Expressed in all

Protein evidence

 Evidence at protein level

Protein expression

 Cytoplasmic expression in most tissues.

DATA RELIABILITY

Data reliability
description

 Antibody staining mainly consistent with RNA expression data.

Reliability score

 Approved based on 1 antibody.
HPA048926
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RNA AND PROTEIN EXPRESSION SUMMARY
RNA expression (TPM) Protein expression (score)
Brain
Caudate
N/A
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Bronchus
N/A
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Vagina
N/A
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Gallbladder

Colon

Kidney

Testis

PROTEIN EXPRESSION OVERVIEW
Organ
Expression
Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Mixed
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Mixed
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all

GENE INFORMATION

Gene name

 ARL13B (HGNC Symbol)

Synonyms

 ARL2L1, DKFZp761H079, JBTS8

Description

 ADP-ribosylation factor-like 13B (HGNC Symbol)

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]

Chromosome

 3

Cytoband

Chromosome location (bp)

 93980139 - 94055668

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000169379 (version 83.38)

Entrez gene

 200894

UniProt

 Q3SXY8 (UniProt - Evidence at protein level)

neXtProt

 NX_Q3SXY8

Antibodypedia

 ARL13B antibodies

PROTEIN BROWSER
ARL13B-001
ARL13B-004
ARL13B-005
ARL13B-201

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
ARL13B-001
ENSP00000306225
ENST00000303097
Q3SXY8 [Direct mapping]
ADP-ribosylation factor-like protein 13B
Show all
Predicted intracellular proteins
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515 [protein binding]
GO:0005525 [GTP binding]
GO:0005929 [cilium]
GO:0006996 [organelle organization]
GO:0007224 [smoothened signaling pathway]
GO:0007264 [small GTPase mediated signal transduction]
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:0060170 [ciliary membrane]
GO:0072372 [primary cilium]
Show all
 321 aa
36.8 kDa 		No 0
ARL13B-004
ENSP00000420780
ENST00000471138
Q3SXY8 [Direct mapping]
ADP-ribosylation factor-like protein 13B
Show all
Predicted intracellular proteins
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515 [protein binding]
GO:0005525 [GTP binding]
GO:0005622 [intracellular]
GO:0005929 [cilium]
GO:0006886 [intracellular protein transport]
GO:0006996 [organelle organization]
GO:0007224 [smoothened signaling pathway]
GO:0007264 [small GTPase mediated signal transduction]
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:0060170 [ciliary membrane]
GO:0072372 [primary cilium]
Show all
 428 aa
48.6 kDa 		No 0
ARL13B-005
ENSP00000377769
ENST00000394222
Q3SXY8 [Direct mapping]
ADP-ribosylation factor-like protein 13B
Show all
Predicted intracellular proteins
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0001947 [heart looping]
GO:0005515 [protein binding]
GO:0005525 [GTP binding]
GO:0005622 [intracellular]
GO:0005929 [cilium]
GO:0005930 [axoneme]
GO:0006886 [intracellular protein transport]
GO:0006996 [organelle organization]
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:0031514 [motile cilium]
GO:0035058 [nonmotile primary cilium assembly]
GO:0042384 [cilium assembly]
GO:0060170 [ciliary membrane]
GO:0070986 [left/right axis specification]
GO:0072372 [primary cilium]
Show all
 428 aa
48.6 kDa 		No 0
ARL13B-201
ENSP00000445145
ENST00000535334
Q3SXY8 [Direct mapping]
ADP-ribosylation factor-like protein 13B
Show all
Predicted intracellular proteins
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515 [protein binding]
GO:0005525 [GTP binding]
GO:0005929 [cilium]
GO:0006996 [organelle organization]
GO:0007224 [smoothened signaling pathway]
GO:0007264 [small GTPase mediated signal transduction]
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:0060170 [ciliary membrane]
GO:0072372 [primary cilium]
Show all
 325 aa
37.1 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.