ABCD1

GENERAL INFORMATION

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Gene name

ABCD1

Gene description

ATP-binding cassette, sub-family D (ALD), member 1

Protein class

Disease related genes
Potential drug targets
Predicted intracellular proteins
Predicted membrane proteins
Transporters

Predicted localization

Intracellular,Membrane

Number of transcripts

3
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Expressed in all
GTEx:Expressed in all

Protein evidence

Evidence at protein level

ANTIBODY RELIABILITY

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Data reliability

Pending normal tissue annotation.
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
N/A
Endocrine tissues
N/A
Bone marrow & immune system
N/A
Muscle tissues
N/A
Lung
N/A
Nasopharynx
N/A
N/A
Bronchus
N/A
N/A
Lung
N/A
Liver & gallbladder
N/A
Liver
N/A
Pancreas
N/A
Pancreas
N/A
Gastrointestinal tract
N/A
Kidney & urinary bladder
N/A
Male tissues
N/A
Testis
N/A
Epididymis
N/A
N/A
Prostate
N/A
Seminal vesicle
N/A
N/A
Female tissues
N/A
Breast
N/A
N/A
Vagina
N/A
N/A
Cervix, uterine
N/A
N/A
Ovary
N/A
Placenta
N/A
Adipose & soft tissue
N/A
Skin
N/A
Skin
N/A


PROTEIN EXPRESSION OVERVIEW

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Pending normal tissue annotation.


RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Expressed in all

Organ

Expression

GTEx dataset
RNA tissue category:  Expressed in all

Organ

Expression



GENE INFORMATION

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Gene name

ABCD1 (HGNC Symbol)

Synonyms

adrenoleukodystrophy, ALD, ALDP, AMN

Description

ATP-binding cassette, sub-family D (ALD), member 1 (HGNC Symbol)

Entrez gene summary

The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ALD subfamily, which is involved in peroxisomal import of fatty acids and/or fatty acyl-CoAs in the organelle. All known peroxisomal ABC transporters are half transporters which require a partner half transporter molecule to form a functional homodimeric or heterodimeric transporter. This peroxisomal membrane protein is likely involved in the peroxisomal transport or catabolism of very long chain fatty acids. Defects in this gene have been identified as the underlying cause of adrenoleukodystrophy, an X-chromosome recessively inherited demyelinating disorder of the nervous system. [provided by RefSeq, Jul 2008]

Chromosome

X

Cytoband

q28

Chromosome location (bp)

153724868 - 153744762

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000101986 (version 78.38)

Entrez gene

215

UniProt

P33897 (UniProt - Evidence at protein level)

neXtProt

NX_P33897

Antibodypedia

ABCD1 antibodies


PROTEIN BROWSER

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ENST00000218104
 
ENST00000370129
 
ENST00000443684
 
 
 
 


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)

ABCD1-001 ENSP00000218104
ENST00000218104
P33897
Show all »
Show » Show » 745 82.9 Yes 5
ABCD1-002 ENSP00000413695
ENST00000443684
Show » 223 24.3 No 0
ABCD1-003 ENSP00000359147
ENST00000370129
A6NEP8
Show all »
Show » Show » 227 24.8 No 2