Expression of ABCD4 in cancer - Summary

GENERAL INFORMATION
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

RNA category

TCGA (cancer tissue):	Expressed in all
HPA (cell line):	Expressed in all
HPA (normal tissue):	Expressed in all

Protein evidence

Evidence at protein level

Protein expression
normal tissue

General cytoplasmic expression in several tissues, including membrane expression in fallopian tube.

ANTIBODY IHC RELIABILITY
Data reliability description	Antibody staining mainly not consistent with RNA expression data.
Reliability score	Approved based on 1 antibody. HPA003396
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PROGNOSTIC SUMMARY
Gene product is not prognostic.
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RNA EXPRESSION OVERVIEW
TCGA dataset RNA cancer category: Expressed in all

PROTEIN EXPRESSION

STAINING SUMMARY

HPA003396

GENE INFORMATION
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 83.38)
Entrez gene	5826
UniProt	O14678 (UniProt - Evidence at protein level)
neXtProt	NX_O14678
Antibodypedia	ABCD4 antibodies

PROTEIN BROWSER

ABCD4-001	ABCD4-021	ABCD4-023	ABCD4-026	ABCD4-028

PROTEIN INFORMATION
Splice variant	UniProt	Protein class	Gene ontology	Length & mass	Signal peptide (predicted)	Transmembrane regions (predicted)
ABCD4-001 ENSP00000349396 ENST00000356924	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 Show all	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) Show all	GO:0005524 [ATP binding] GO:0005765 [lysosomal membrane] GO:0005777 [peroxisome] GO:0005778 [peroxisomal membrane] GO:0005789 [endoplasmic reticulum membrane] GO:0006766 [vitamin metabolic process] GO:0006767 [water-soluble vitamin metabolic process] GO:0006810 [transport] GO:0009235 [cobalamin metabolic process] GO:0016021 [integral component of membrane] GO:0016887 [ATPase activity] GO:0042626 [ATPase activity, coupled to transmembrane movement of substances] GO:0043190 [ATP-binding cassette (ABC) transporter complex] GO:0044281 [small molecule metabolic process] GO:0055085 [transmembrane transport] Show all	606 aa 68.6 kDa	No	5
ABCD4-021 ENSP00000451770 ENST00000556971	H0YJL8 [Direct mapping] ATP-binding cassette sub-family D member 4 Show all	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 (Ezkurdia et al 2014) Show all	GO:0005524 [ATP binding] GO:0006810 [transport] GO:0016021 [integral component of membrane] GO:0042626 [ATPase activity, coupled to transmembrane movement of substances] GO:0055085 [transmembrane transport] Show all	205 aa 23.8 kDa	No	3
ABCD4-023 ENSP00000451993 ENST00000557588	G3V4U7 [Direct mapping] ATP-binding cassette sub-family D member 4 Show all	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 (Ezkurdia et al 2014) Show all	GO:0005524 [ATP binding] GO:0006810 [transport] GO:0016021 [integral component of membrane] GO:0042626 [ATPase activity, coupled to transmembrane movement of substances] GO:0055085 [transmembrane transport] Show all	203 aa 23.7 kDa	No	2
ABCD4-026 ENSP00000450960 ENST00000556517	H0YJ78 [Direct mapping] ATP-binding cassette sub-family D member 4 Show all	Predicted intracellular proteins Protein evidence (Ezkurdia et al 2014) Show all	GO:0005524 [ATP binding] GO:0008152 [metabolic process] GO:0016887 [ATPase activity] Show all	184 aa 19.9 kDa	No	0
ABCD4-028 ENSP00000450982 ENST00000555904	H0YJ82 [Direct mapping] ATP-binding cassette sub-family D member 4 Show all	SCAMPI predicted membrane proteins Predicted intracellular proteins Protein evidence (Ezkurdia et al 2014) Show all	GO:0005524 [ATP binding] GO:0008152 [metabolic process] GO:0016887 [ATPase activity] Show all	158 aa 17.9 kDa	No	0