GAN

GENERAL INFORMATION

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Gene name

GAN

Gene description

Gigaxonin

Protein class

Cytoskeleton related proteins
Disease related genes
Plasma proteins
Predicted intracellular proteins

Predicted localization

Intracellular

Number of transcripts

1
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Tissue enriched (skin)
GTEx:Tissue enhanced (skin)

Protein evidence

Evidence at protein level

Protein localization

Cytoplasmic expression in several tissues, most abundant in lateral ventricle.

ANTIBODY RELIABILITY

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Data reliability
description

Antibody staining not consistent with RNA expression data. External characterization data supports antibody staining.

Data reliability

Uncertain based on 2 antibodies.
HPA049473 , CAB011825
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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
Bronchus
N/A
N/A
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lateral ventricle

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:  Tissue enriched (skin)

Organ

Expression

GTEx dataset
RNA tissue category:  Tissue enhanced (skin)

Organ

Expression



GENE INFORMATION

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Gene name

GAN (HGNC Symbol)

Synonyms

GAN1, KLHL16

Description

Gigaxonin (HGNC Symbol)

Entrez gene summary

This gene encodes a member of the cytoskeletal BTB/kelch (Broad-Complex, Tramtrack and Bric a brac) repeat family. The encoded protein plays a role in neurofilament architecture and is involved in mediating the ubiquitination and degradation of some proteins. Defects in this gene are a cause of giant axonal neuropathy (GAN). [provided by RefSeq, Oct 2008]

Chromosome

16

Cytoband

q23.2

Chromosome location (bp)

81314952 - 81390884

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000261609 (version 78.38)

Entrez gene

8139

UniProt

Q9H2C0 (UniProt - Evidence at protein level)

neXtProt

NX_Q9H2C0

Antibodypedia

GAN antibodies


PROTEIN BROWSER

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ENST00000568107
 
 
 
 


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)

GAN-001 ENSP00000476795
ENST00000568107
Q9H2C0
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