Human Gene ABCD4 (ENST00000481935.5) from GENCODE V44
  Description: Homo sapiens ATP binding cassette subfamily D member 4 (ABCD4), transcript variant 30, non-coding RNA. (from RefSeq NR_148470)
RefSeq Summary (NM_001353600): 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 several protein-coding and non-protein-coding variants. [provided by RefSeq, Jul 2017].
Gencode Transcript: ENST00000481935.5
Gencode Gene: ENSG00000119688.21
Transcript (Including UTRs)
   Position: hg38 chr14:74,286,014-74,302,937 Size: 16,924 Total Exon Count: 17 Strand: -
Coding Region
   Position: hg38 chr14:74,298,056-74,302,912 Size: 4,857 Coding Exon Count: 3 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesGeneReviewsMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr14:74,286,014-74,302,937)mRNA (may differ from genome)Protein (56 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCLynxMalacardsMGIOMIMPubMed
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: E9PI46_HUMAN
DESCRIPTION: SubName: Full=ATP-binding cassette sub-family D member 4;
CAUTION: The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: ABCD4
Diseases sorted by gene-association score: methylmalonic aciduria and homocystinuria, cblj type* (1550), methylmalonic acidemia with homocystinuria type cblj* (400), cbij* (100), adrenoleukodystrophy (23), homocystinuria (10), cerebral degeneration (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 17.57 RPKM in Brain - Cerebellum
Total median expression: 543.08 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -9.0025-0.360 Picture PostScript Text
3' UTR -814.802140-0.381 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR010509 - ABC_Ald_N

Pfam Domains:
PF06472 - ABC transporter transmembrane region 2

ModBase Predicted Comparative 3D Structure on E9PI46
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
      
      
      
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005524 ATP binding
GO:0042626 ATPase activity, coupled to transmembrane movement of substances

Biological Process:
GO:0055085 transmembrane transport

Cellular Component:
GO:0016021 integral component of membrane


-  Descriptions from all associated GenBank mRNAs
  AF009746 - Homo sapiens peroxisomal membrane protein 69 (PMP69) mRNA, complete cds.
U66690 - Homo sapiens clone EST352188 mRNA sequence.
BC012815 - Homo sapiens ATP-binding cassette, sub-family D (ALD), member 4, mRNA (cDNA clone MGC:4125 IMAGE:2960427), complete cds.
JD346141 - Sequence 327165 from Patent EP1572962.
AK291332 - Homo sapiens cDNA FLJ77136 complete cds, highly similar to Homo sapiens ATP-binding cassette, sub-family D (ALD), member 4 (ABCD4), transcript variant 1, mRNA.
JD415586 - Sequence 396610 from Patent EP1572962.
JD515801 - Sequence 496825 from Patent EP1572962.
JD279154 - Sequence 260178 from Patent EP1572962.
AK308382 - Homo sapiens cDNA, FLJ98330.
JD192316 - Sequence 173340 from Patent EP1572962.
JD210810 - Sequence 191834 from Patent EP1572962.
BT007412 - Homo sapiens ATP-binding cassette, sub-family D (ALD), member 4 mRNA, complete cds.
DQ892847 - Synthetic construct clone IMAGE:100005477; FLH190268.01X; RZPDo839G0575D ATP-binding cassette, sub-family D (ALD), member 4 (ABCD4) gene, encodes complete protein.
DQ896094 - Synthetic construct Homo sapiens clone IMAGE:100010554; FLH190264.01L; RZPDo839G0565D ATP-binding cassette, sub-family D (ALD), member 4 (ABCD4) gene, encodes complete protein.
CR457104 - Homo sapiens full open reading frame cDNA clone RZPDo834F0914D for gene ABCD4, ATP-binding cassette, sub-family D (ALD), member 4; complete cds, incl. stopcodon.
JD037388 - Sequence 18412 from Patent EP1572962.
JD376468 - Sequence 357492 from Patent EP1572962.
AK297934 - Homo sapiens cDNA FLJ55494 complete cds, highly similar to ATP-binding cassette sub-family D member 4.
JD341585 - Sequence 322609 from Patent EP1572962.
JD431348 - Sequence 412372 from Patent EP1572962.
JD295048 - Sequence 276072 from Patent EP1572962.
JD267809 - Sequence 248833 from Patent EP1572962.
JD078761 - Sequence 59785 from Patent EP1572962.
BX247984 - human full-length cDNA clone CS0DF031YG21 of Fetal brain of Homo sapiens (human).
BX248053 - human full-length cDNA clone CS0DI065YF14 of Placenta of Homo sapiens (human).
JD333912 - Sequence 314936 from Patent EP1572962.
JD142064 - Sequence 123088 from Patent EP1572962.
JD536946 - Sequence 517970 from Patent EP1572962.
JD478744 - Sequence 459768 from Patent EP1572962.
JD218016 - Sequence 199040 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa02010 - ABC transporters
hsa04146 - Peroxisome

-  Other Names for This Gene
  Alternate Gene Symbols: E9PI46, E9PI46_HUMAN, ENST00000481935.1, ENST00000481935.2, ENST00000481935.3, ENST00000481935.4, NR_148470, uc059dhf.1
UCSC ID: ENST00000481935.5
RefSeq Accession: NM_001353600
Protein: E9PI46

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene ABCD4:
cbl (Disorders of Intracellular Cobalamin Metabolism)

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.