ARL13B

GENERAL INFORMATION

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Gene name

ARL13B

Gene description

ADP-ribosylation factor-like 13B

Protein class

Disease related genes
Predicted intracellular proteins

Predicted localization

Intracellular

Number of transcripts

5
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Mixed
GTEx:Mixed

Protein evidence

Evidence at protein level

Protein localization

Most normal tissues displayed moderate cytoplasmic positivity. Ciliated cells of respiratory epithelia and fallopian tube were strongly stained. Ganglion cells, adrenal gland, placenta, cells in seminiferus ducts of testis, Leydig cells, endometrial gland and hematopoietic cells were strongly stained.

ANTIBODY RELIABILITY

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Data reliability
description

Pending RNA-based expert annotation.

Data reliability

Uncertain based on 1 antibody.
HPA048926
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Mixed

Organ

Expression

GTEx dataset
RNA tissue category:  Mixed

Organ

Expression



GENE INFORMATION

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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 78.38)

Entrez gene

200894

UniProt

Q3SXY8 (UniProt - Evidence at protein level)

neXtProt

NX_Q3SXY8

Antibodypedia

ARL13B antibodies


PROTEIN BROWSER

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ENST00000303097
 
ENST00000394222
 
ENST00000471138
 
ENST00000478400
 
ENST00000535334
 
 
 
 


PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

ARL13B-001 ENSP00000306225
ENST00000303097
Q3SXY8
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Show » Show » 321 36.8 No 0
ARL13B-004 ENSP00000420780
ENST00000471138
Q3SXY8
Show all »
Show » Show » 428 48.6 No 0
ARL13B-005 ENSP00000377769
ENST00000394222
Q3SXY8
Show all »
Show » Show » 428 48.6 No 0
ARL13B-006 ENSP00000417702
ENST00000478400
C9J887
Show all »
Show » 59 5.8 No 0
ARL13B-201 ENSP00000445145
ENST00000535334
Q3SXY8
Show all »
Show » Show » 325 37.1 No 0