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GENERAL INFORMATION
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Protein class
Protein class the gene product belongs to according to selected gene lists. List of protein classes.
Predicted localization
Protein localization predicted from several bioinformatic algorithms. More info...
Number of transcripts
Number of protein-coding transcribed from this gene as defined by Ensembl.
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Gene name |
ABCD4 |
Gene description |
ATP-binding cassette, sub-family D (ALD), member 4 |
Protein class |
Disease related genes
Plasma proteins
Potential drug targets
Predicted intracellular proteins
Predicted membrane proteins
Transporters |
Predicted localization |
Intracellular,Membrane |
Number of transcripts |
5 |
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HUMAN PROTEIN ATLAS INFORMATION
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RNA tissue category
The RNA tissue category is based on mRNA expression levels in 32 different tissues ( RNA assay description).
The categories include: tissue enriched, group enriched, tissue enhanced, expressed in all, not detected, and mixed.
RNA tissue category is calculated separately both for internally generated Human Protein Atlas (HPA) RNA-seq data, as
well as RNA-seq data from the Genotype-Tissue Expression ( GTEx) consortium.
Protein evidence
Protein evidence scores are generated from several independent sources
and are classified as evidence at i) protein level, ii) transcript level, iii) no evidence or iv) not available.
Protein localization
A summary of the overall protein expression pattern across the analyzed tissues. The summary is based on knowledge-based
annotation ( Annotation description). For genes pending
knowledge-based annotation, the protein localization refers to the antibody staining pattern.
"RNA-based expert annotation gave inconconclusive results" is shown for genes analyzed with a knowledge-based approach where
available RNA-seq and gene/protein characterization data has been evaluated as not sufficient in combination with
immunohistochemistry-data to yield a reliable estimation of the protein expression profile.
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RNA tissue category |
| HPA: | Expressed in all |
| GTEx: | Expressed in all |
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Protein evidence |
Evidence at protein level |
Protein localization |
Moderate cytoplasmic and membraneous positivity was observed in testis, epididymis, adrenal gland and renal tubules. Remaining normal tissues were weakly stained or negative. |
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ANTIBODY RELIABILITY
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Data reliability description
Standardized explanatory sentences with additional information required for full understanding of the
knowledge-based expression profile. Currently, not all genes have been analyzed by knowledge-based
annotation, indicated by "Pending RNA-based expert annotation", when applicable.
Data reliability
Data reliability score ( score description), divided into supportive (premium)
or uncertain (not premium), is based on consistency between the staining pattern of one antibody or several
antibodies with RNA-seq data and available gene/protein characterization data.
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Data reliability
description |
Pending RNA-based expert annotation. |
Data reliability |
Uncertain based on 1 antibody.
HPA003396
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PROTEIN EXPRESSION OVERVIEW
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Protein expression data is shown for each of the 44 tissues. Color-coding is based on 13 tissue groups, each consisting
of tissues with common functional features. Mouse-over function shows protein score for analyzed cell types found in a
selected tissue. To access image data click on tissue name or bar. Annotation of protein expression is described in
detail in Assays & annotation.
For genes with available protein data for which a knowledge-based annotation could not be performed, no protein
expression data is displayed in the protein expression data overview, however, all immunohistochemical images are
still available and the annotation data can be found under Primary data.
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GENE INFORMATION
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Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
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Gene name |
ABCD4 (HGNC Symbol) |
Synonyms |
EST352188, P70R, PMP69, PXMP1L |
Description |
ATP-binding cassette, sub-family D (ALD), member 4 (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. The function of this peroxisomal membrane protein is unknown. However, it is speculated that it may function as a heterodimer for another peroxisomal ABC transporter and, therefore, may modify the adrenoleukodystrophy phenotype. It may also play a role in the process of peroxisome biogenesis. Alternative splicing results in at least two different transcript variants, one which is protein-coding and one which is probably not protein-coding. [provided by RefSeq, Jul 2008] |
Chromosome |
14 |
Cytoband |
q24.3 |
Chromosome location (bp) |
74285423 - 74303056 |
Protein evidence |
Evidence at protein level (all genes) |
Ensembl |
ENSG00000119688 (version 78.38) |
Entrez gene |
5826 |
UniProt |
O14678 (UniProt - Evidence at protein level) |
neXtProt |
NX_O14678 |
Antibodypedia |
ABCD4 antibodies |
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PROTEIN BROWSER
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The protein browser displays the antigen location on the target protein(s) and the features of the target protein. The
tabs at the top of the protein view section can be used to switch between the different splice variants to which
an antigen has been mapped.
At the top of the view, the position of the antigen (identified by the corresponding HPA identifier) is shown as a green
bar. A yellow triangle on the bar indicates a <100% sequence identity to the protein target.
Under the antigens, the maximum percent sequence identity of the protein to all other proteins from other human genes is
displayed, using a sliding window of 10 aa residues (HsID 10) or 50 aa residues
(HsID 50) ( read more).
If a signal peptide is predicted by a majority of the signal peptide predictors SPOCTOPUS,
SignalP 4.0, and
Phobius (turquoise)
and/or transmembrane regions (orange) are predicted by MDM, these are displayed.
Low complexity regions are shown in yellow
and InterPro regions in green. Common (purple) and
unique (grey) regions between different splice variants of the gene are also displayed
( read more), and at the
bottom of the protein view is the protein scale.
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PROTEIN INFORMATION
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The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this
gene according to the Ensembl database.
The ENSP identifier links to the Ensembl website protein summary, while the ENST identifier links to the Ensembl website transcript summary
for the selected splice variant. The data in the UniProt column can be expanded to show links to all matching
UniProt identifiers for this protein.
The protein classes assigned to this protein are shown if expanding the data in the
protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The Gene Ontology terms assigned to this protein are
listed if expanding the Gene ontology column.
The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide (according to a
majority of the signal peptide predictors SPOCTOPUS,
SignalP 4.0 and
Phobius) and the number of predicted transmembrane region(s)
(according to MDM) are also reported.
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Splice variant |
Ensembl |
UniProt |
Protein class |
Gene ontology |
Length
(aa) |
Molecular mass
(kDa) |
Signal peptide
(predicted) |
Transmembrane regions
(predicted)
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| ABCD4-001 |
ENSP00000349396
ENST00000356924
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O14678
Show all »
« Hide
O14678 [Direct mapping]ATP-binding cassette sub-family D member 4 A0A024R6B9 [Target identity:100%; Query identity:100%]ATP-binding cassette, sub-family D (ALD), member 4, isoform CRA_b {ECO:0000313|EMBL:EAW81172.1} A0A024R6C8 [Target identity:73%; Query identity:100%]ATP-binding cassette, sub-family D (ALD), member 4, isoform CRA_d {ECO:0000313|EMBL:EAW81171.1}
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Transporters
Primary Active Transporters
Predicted membrane proteins
Prediction method-based
Membrane proteins predicted by MDM
MEMSAT3 predicted membrane proteins
MEMSAT-SVM predicted membrane proteins
Phobius predicted membrane proteins
SCAMPI predicted membrane proteins
SPOCTOPUS predicted membrane proteins
THUMBUP predicted membrane proteins
TMHMM predicted membrane proteins
# TM segments-based
5TM proteins predicted by MDM
Plasma proteins
Disease related genes
Potential drug targets
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
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606 |
68.6 |
No |
5 |
| ABCD4-021 |
ENSP00000451770
ENST00000556971
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Predicted membrane proteins
Prediction method-based
Membrane proteins predicted by MDM
MEMSAT3 predicted membrane proteins
MEMSAT-SVM predicted membrane proteins
Phobius predicted membrane proteins
SCAMPI predicted membrane proteins
SPOCTOPUS predicted membrane proteins
THUMBUP predicted membrane proteins
# TM segments-based
3TM proteins predicted by MDM
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
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205 |
23.8 |
No |
3 |
| ABCD4-023 |
ENSP00000451993
ENST00000557588
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G3V4U7
Show all »
« Hide
G3V4U7 [Target identity:100%; Query identity:100%]ATP-binding cassette sub-family D member 4 {ECO:0000313|Ensembl:ENSP00000451993}
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Predicted membrane proteins
Prediction method-based
Membrane proteins predicted by MDM
MEMSAT3 predicted membrane proteins
MEMSAT-SVM predicted membrane proteins
Phobius predicted membrane proteins
SCAMPI predicted membrane proteins
SPOCTOPUS predicted membrane proteins
THUMBUP predicted membrane proteins
# TM segments-based
2TM proteins predicted by MDM
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
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203 |
23.7 |
No |
2 |
| ABCD4-026 |
ENSP00000450960
ENST00000556517
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« Hide
Predicted intracellular proteins
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
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184 |
19.9 |
No |
0 |
| ABCD4-028 |
ENSP00000450982
ENST00000555904
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« Hide
SCAMPI predicted membrane proteins
Predicted intracellular proteins
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
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« Hide
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158 |
17.9 |
No |
0 |
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