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Aliases for ABCD4 Gene

Aliases for ABCD4 Gene

  • ATP-Binding Cassette, Sub-Family D (ALD), Member 4 2 3
  • PXMP1L 3 4 6
  • PMP69 3 4 6
  • Peroxisomal Membrane Protein 69 3 4
  • PMP70-Related Protein 3 4
  • PXMP1-L 3 4
  • MAHCJ 3 6
  • P79R 3 6
  • P70R 3 4
  • ATP-Binding Cassette Sub-Family D Member 4 3
  • Peroxisomal Membrane Protein 1-Like 4
  • 69 KDa Peroxisomal ABC-Transporter 3
  • EST352188 3
  • ABC41 3

External Ids for ABCD4 Gene

Previous Symbols for ABCD4 Gene

  • PXMP1L

Summaries for ABCD4 Gene

Entrez Gene Summary for ABCD4 Gene

  • 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]

GeneCards Summary for ABCD4 Gene

ABCD4 (ATP-Binding Cassette, Sub-Family D (ALD), Member 4) is a Protein Coding gene. Diseases associated with ABCD4 include methylmalonic aciduria and homocystinuria, cblj type and methylmalonic acidemia with homocystinuria, type cblj. Among its related pathways are Peroxisome and ABC-family proteins mediated transport. GO annotations related to this gene include ATPase activity, coupled to transmembrane movement of substances. An important paralog of this gene is ABCD3.

UniProtKB/Swiss-Prot for ABCD4 Gene

  • May be involved in intracellular processing of vitamin B12 (cobalamin). Could play a role in the lysosomal release of vitamin B12 into the cytoplasm.

Gene Wiki entry for ABCD4 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ABCD4 Gene

Genomics for ABCD4 Gene

Genomic Location for ABCD4 Gene

Start:
74,285,277 bp from pter
End:
74,303,064 bp from pter
Size:
17,788 bases
Orientation:
Minus strand

Genomic View for ABCD4 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ABCD4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ABCD4 Gene

Regulatory Elements for ABCD4 Gene

Proteins for ABCD4 Gene

  • Protein details for ABCD4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O14678-ABCD4_HUMAN
    Recommended name:
    ATP-binding cassette sub-family D member 4
    Protein Accession:
    O14678
    Secondary Accessions:
    • A8K5L7
    • Q6IAQ0
    • Q96E75

    Protein attributes for ABCD4 Gene

    Size:
    606 amino acids
    Molecular mass:
    68597 Da
    Quaternary structure:
    • Homodimer or heterodimer.

neXtProt entry for ABCD4 Gene

Proteomics data for ABCD4 Gene at MOPED

Post-translational modifications for ABCD4 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for ABCD4 Gene

Domains for ABCD4 Gene

Gene Families for ABCD4 Gene

HGNC:
  • ABCD :ATP binding cassette transporters / subfamily D

UniProtKB/Swiss-Prot:

ABCD4_HUMAN
Domain:
  • Contains 1 ABC transmembrane type-1 domain.:
    • O14678
  • Contains 1 ABC transporter domain.:
    • O14678
Family:
  • Belongs to the ABC transporter superfamily. ABCD family. Peroxisomal fatty acyl CoA transporter (TC 3.A.1.203) subfamily.:
    • O14678
genes like me logo Genes that share domains with ABCD4: view

Function for ABCD4 Gene

Molecular function for ABCD4 Gene

GENATLAS Biochemistry: ATP-binding cassette superfamily,subfamily D (ALD),member 4,ubiquitously expressed,peroxisomal membrane protein 1-like,transporter,putatively involved in ALDP expression
UniProtKB/Swiss-Prot Function: May be involved in intracellular processing of vitamin B12 (cobalamin). Could play a role in the lysosomal release of vitamin B12 into the cytoplasm.

Gene Ontology (GO) - Molecular Function for ABCD4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005524 ATP binding NAS 9266848
GO:0016887 ATPase activity --
GO:0042626 ATPase activity, coupled to transmembrane movement of substances NAS 9266848
genes like me logo Genes that share ontologies with ABCD4: view
genes like me logo Genes that share phenotypes with ABCD4: view

miRNA for ABCD4 Gene

miRTarBase miRNAs that target ABCD4

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for ABCD4 Gene

Localization for ABCD4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ABCD4 Gene

Peroxisome membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ABCD4 Gene COMPARTMENTS Subcellular localization image for ABCD4 gene
Compartment Confidence
peroxisome 5
plasma membrane 3
endoplasmic reticulum 2
cytosol 1
golgi apparatus 1
mitochondrion 1
nucleus 1

Gene Ontology (GO) - Cellular Components for ABCD4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005765 lysosomal membrane TAS --
GO:0005777 peroxisome IDA 14533738
GO:0005778 peroxisomal membrane IEA --
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0016020 membrane --
genes like me logo Genes that share ontologies with ABCD4: view

Pathways for ABCD4 Gene

genes like me logo Genes that share pathways with ABCD4: view

Pathways by source for ABCD4 Gene

2 KEGG pathways for ABCD4 Gene

Interacting Proteins for ABCD4 Gene

Gene Ontology (GO) - Biological Process for ABCD4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006200 obsolete ATP catabolic process --
GO:0006766 vitamin metabolic process TAS --
GO:0006767 water-soluble vitamin metabolic process TAS --
GO:0006810 transport --
GO:0009235 cobalamin metabolic process TAS --
genes like me logo Genes that share ontologies with ABCD4: view

Compounds for ABCD4 Gene

(1) Novoseek inferred chemical compound relationships for ABCD4 Gene

Compound -log(P) Hits PubMed IDs
fatty acid 24.9 1
genes like me logo Genes that share compounds with ABCD4: view

Transcripts for ABCD4 Gene

Unigene Clusters for ABCD4 Gene

ATP-binding cassette, sub-family D (ALD), member 4:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for ABCD4 Gene

ExUns: 1a · 1b · 1c · 1d · 1e · 1f · 1g ^ 2 ^ 3a · 3b · 3c ^ 4a · 4b · 4c · 4d · 4e ^ 5 ^ 6 ^ 7a · 7b ^ 8a · 8b ^ 9 ^ 10a · 10b · 10c ^
SP1: - - - - - - -
SP2:
SP3:
SP4:
SP5:
SP6:
SP7: -
SP8: - -
SP9: - - - - - - -
SP10: - - - - - -
SP11: - -
SP12: - - - - - - - -
SP13: - - - -
SP14: - -
SP15:
SP16:
SP17: - - -
SP18:
SP19:
SP20: -

ExUns: 11 ^ 12a · 12b ^ 13a · 13b · 13c · 13d · 13e ^ 14a · 14b ^ 15a · 15b ^ 16a · 16b ^ 17a · 17b ^ 18 ^ 19 ^ 20a · 20b · 20c · 20d · 20e · 20f
SP1: - - - -
SP2: - - - - -
SP3: - -
SP4: - - - - - -
SP5: - - -
SP6: - -
SP7: - -
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:
SP17:
SP18:
SP19:
SP20:

Relevant External Links for ABCD4 Gene

GeneLoc Exon Structure for
ABCD4
ECgene alternative splicing isoforms for
ABCD4

Expression for ABCD4 Gene

mRNA expression in normal human tissues for ABCD4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for ABCD4 Gene

SOURCE GeneReport for Unigene cluster for ABCD4 Gene Hs.94395

mRNA Expression by UniProt/SwissProt for ABCD4 Gene

O14678-ABCD4_HUMAN
Tissue specificity: Ubiquitous
genes like me logo Genes that share expressions with ABCD4: view

Orthologs for ABCD4 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for ABCD4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ABCD4 36
  • 99.39 (n)
  • 99.01 (a)
ABCD4 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ABCD4 37
  • 89 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ABCD4 36
  • 90.54 (n)
  • 91.72 (a)
ABCD4 37
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Abcd4 36
  • 88.17 (n)
  • 89.6 (a)
Abcd4 16
Abcd4 37
  • 90 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ABCD4 37
  • 80 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ABCD4 37
  • 56 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Abcd4 36
  • 88.21 (n)
  • 89.42 (a)
chicken
(Gallus gallus)
Aves ABCD4 36
  • 74.75 (n)
  • 77.1 (a)
ABCD4 37
  • 76 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ABCD4 37
  • 74 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia abcd4 36
  • 62.89 (n)
  • 62.44 (a)
zebrafish
(Danio rerio)
Actinopterygii abcd4 36
  • 65.25 (n)
  • 68.25 (a)
abcd4 37
  • 66 (a)
OneToOne
Dr.18695 36
worm
(Caenorhabditis elegans)
Secernentea pmp-3 36
  • 47.27 (n)
  • 41.99 (a)
pmp-3 37
  • 36 (a)
OneToMany
pmp-5 37
  • 31 (a)
OneToMany
C54G10.3 38
  • 41 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PXA1 37
  • 17 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 45 (a)
OneToOne
Species with no ortholog for ABCD4:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ABCD4 Gene

ENSEMBL:
Gene Tree for ABCD4 (if available)
TreeFam:
Gene Tree for ABCD4 (if available)

Paralogs for ABCD4 Gene

Paralogs for ABCD4 Gene

genes like me logo Genes that share paralogs with ABCD4: view

Variants for ABCD4 Gene

Sequence variations from dbSNP and Humsavar for ABCD4 Gene

SNP ID Clin Chr 14 pos Sequence Context AA Info Type MAF
rs2466 -- 74,286,199(+) TAGGT(A/C)ATCAG utr-variant-3-prime, nc-transcript-variant
rs8618 -- 74,286,273(-) GGACA(C/T)TGAAT utr-variant-3-prime, nc-transcript-variant
rs929449 -- 74,286,575(-) CTGCC(A/G)GCGGC intron-variant
rs1052000 -- 74,292,826(-) AGTTA(C/T)GTTGT reference, synonymous-codon, nc-transcript-variant
rs1052006 -- 74,286,438(-) GGAGA(A/G)CCACA utr-variant-3-prime, nc-transcript-variant

Structural Variations from Database of Genomic Variants (DGV) for ABCD4 Gene

Variant ID Type Subtype PubMed ID
nsv902096 CNV Gain 21882294
nsv902097 CNV Gain 21882294

Relevant External Links for ABCD4 Gene

HapMap Linkage Disequilibrium report
ABCD4
Human Gene Mutation Database (HGMD)
ABCD4

Disorders for ABCD4 Gene

(1) OMIM Diseases for ABCD4 Gene (603214)

UniProtKB/Swiss-Prot

ABCD4_HUMAN
  • Methylmalonic aciduria and homocystinuria type cblJ (MAHCJ) [MIM:614857]: A disorder of cobalamin metabolism characterized by decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl). Clinical features include feeding difficulties, poor growth, hypotonia, lethargy, anemia, and developmental delay. {ECO:0000269 PubMed:22922874}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(1) University of Copenhagen DISEASES for ABCD4 Gene

(1) Novoseek inferred disease relationships for ABCD4 Gene

Disease -log(P) Hits PubMed IDs
adrenoleukodystrophy 90 4

Relevant External Links for ABCD4

Genetic Association Database (GAD)
ABCD4
Human Genome Epidemiology (HuGE) Navigator
ABCD4
genes like me logo Genes that share disorders with ABCD4: view

Publications for ABCD4 Gene

  1. Primary structure of human PMP69, a putative peroxisomal ABC- transporter. (PMID: 9266848) Holzinger A. … Roscher A.A. (Biochem. Biophys. Res. Commun. 1997) 2 3 4 23
  2. Genomic organization and chromosomal localization of the human peroxisomal membrane protein-1-like protein (PXMP1-L) gene encoding a peroxisomal ABC transporter. (PMID: 9599016) Holzinger A. … Kammerer S. (FEBS Lett. 1998) 3 4 23
  3. Identification of a fourth half ABC transporter in the human peroxisomal membrane. (PMID: 9302272) Shani N. … Valle D. (Hum. Mol. Genet. 1997) 2 3 4
  4. Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism. (PMID: 22922874) Coelho D. … Baumgartner M.R. (Nat. Genet. 2012) 3 4
  5. Targeting of the human adrenoleukodystrophy protein to the peroxisomal membrane by an internal region containing a highly conserved motif. (PMID: 14533738) Landgraf P. … Holzinger A. (Eur. J. Cell Biol. 2003) 3 23

Products for ABCD4 Gene

Sources for ABCD4 Gene

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