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Aliases for ABCD4 Gene

Aliases for ABCD4 Gene

  • ATP Binding Cassette Subfamily D Member 4 2 3 5
  • ATP-Binding Cassette, Sub-Family D (ALD), Member 4 2 3
  • Peroxisomal Membrane Protein 69 3 4
  • PMP70-Related Protein 3 4
  • PXMP1-L 3 4
  • PXMP1L 3 4
  • PMP69 3 4
  • P70R 3 4
  • Peroxisomal Membrane Protein 1-Like 4
  • 69 KDa Peroxisomal ABC-Transporter 3
  • EST352188 3
  • ABC41 3
  • MAHCJ 3
  • P79R 3

External Ids for ABCD4 Gene

Previous HGNC Symbols for ABCD4 Gene

  • PXMP1L

Previous GeneCards Identifiers for ABCD4 Gene

  • GC14M072257
  • GC14M068547
  • GC14M072742
  • GC14M073821
  • GC14M074751
  • GC14M054918

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 Subfamily D Member 4) is a Protein Coding gene. Diseases associated with ABCD4 include Methylmalonic Aciduria And Homocystinuria, Cblj Type and Cbij. Among its related pathways are Metabolism of water-soluble vitamins and cofactors and Cobalamin (Cbl, vitamin B12) transport and metabolism. GO annotations related to this gene include ATPase activity and 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

Regulatory Elements for ABCD4 Gene

Enhancers for ABCD4 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around ABCD4 on UCSC Golden Path with GeneCards custom track

Promoters for ABCD4 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ABCD4 on UCSC Golden Path with GeneCards custom track

Genomic Location for ABCD4 Gene

Chromosome:
14
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

Genes around ABCD4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ABCD4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ABCD4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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 & Families for ABCD4 Gene

Gene Families for ABCD4 Gene

Suggested Antigen Peptide Sequences for ABCD4 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O14678

UniProtKB/Swiss-Prot:

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

Human Phenotype Ontology for ABCD4 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ABCD4 Gene

MGI Knock Outs for ABCD4:

Animal Model Products

miRNA for ABCD4 Gene

miRTarBase miRNAs that target ABCD4

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Transcription Factor Targets 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 5
lysosome 4
vacuole 4
endoplasmic reticulum 3
golgi apparatus 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for ABCD4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005777 peroxisome IDA 9302272
GO:0005778 peroxisomal membrane IEA --
GO:0043190 ATP-binding cassette (ABC) transporter complex NAS 9266848
genes like me logo Genes that share ontologies with ABCD4: view

Pathways & Interactions for ABCD4 Gene

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

Interacting Proteins for ABCD4 Gene

Gene Ontology (GO) - Biological Process for ABCD4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006766 vitamin metabolic process TAS --
GO:0044281 small molecule metabolic process TAS --
genes like me logo Genes that share ontologies with ABCD4: view

No data available for SIGNOR curated interactions for ABCD4 Gene

Drugs & Compounds for ABCD4 Gene

(1) Additional Compounds for ABCD4 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
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

Protein differential expression in normal tissues from HIPED for ABCD4 Gene

This gene is overexpressed in Adrenal (56.3) and Breast (7.8).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with ABCD4: view

Primer Products

No data available for mRNA differential expression in normal tissues and Protein tissue co-expression partners for ABCD4 Gene

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
dog
(Canis familiaris)
Mammalia ABCD4 35
  • 90.54 (n)
  • 91.72 (a)
ABCD4 36
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Abcd4 35
  • 88.17 (n)
  • 89.6 (a)
Abcd4 16
Abcd4 36
  • 90 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ABCD4 35
  • 99.39 (n)
  • 99.01 (a)
ABCD4 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Abcd4 35
  • 88.21 (n)
  • 89.42 (a)
cow
(Bos Taurus)
Mammalia ABCD4 36
  • 89 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ABCD4 36
  • 80 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ABCD4 36
  • 56 (a)
OneToOne
chicken
(Gallus gallus)
Aves ABCD4 35
  • 74.75 (n)
  • 77.1 (a)
ABCD4 36
  • 76 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ABCD4 36
  • 74 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia abcd4 35
  • 62.89 (n)
  • 62.44 (a)
zebrafish
(Danio rerio)
Actinopterygii abcd4 35
  • 65.25 (n)
  • 68.25 (a)
Dr.18695 35
abcd4 36
  • 66 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea C54G10.3 37
  • 41 (a)
pmp-3 35
  • 47.27 (n)
  • 41.99 (a)
pmp-3 36
  • 36 (a)
OneToMany
pmp-5 36
  • 31 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PXA1 36
  • 17 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 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
rs3742801 - 74,292,303(-) AGAGC(A/G)AGTGG nc-transcript-variant, reference, missense
rs4148077 - 74,292,774(-) GTCCC(A/G)CAGAG nc-transcript-variant, reference, missense
rs34992370 - 74,296,361(+) GTAGA(C/T)GAGGG nc-transcript-variant, reference, synonymous-codon, missense, utr-variant-5-prime
rs35073715 - 74,292,356(+) GAAGC(A/C/G)TCTCC nc-transcript-variant, reference, missense
rs201777056 Methylmalonic aciduria and homocystinuria type cblJ (MAHCJ) 74,292,623(+) TGAGG(C/T)AGATG nc-transcript-variant, reference, missense

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

Variation tolerance for ABCD4 Gene

Residual Variation Intolerance Score: 78.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 15.59; 97.24% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ABCD4 Gene

Human Gene Mutation Database (HGMD)
ABCD4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ABCD4 Gene

Disorders for ABCD4 Gene

MalaCards: The human disease database

(7) MalaCards diseases for ABCD4 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
methylmalonic aciduria and homocystinuria, cblj type
  • mahcj
cbij
methylmalonic acidemia with homocystinuria, type cblj
  • methylmalonic aciduria and homocystinuria, cblj type
adrenoleukodystrophy
  • adrenomyeloneuropathy, adult
disorders of intracellular cobalamin metabolism
- elite association - COSMIC cancer census association via MalaCards
Search ABCD4 in MalaCards View complete list of genes associated with diseases

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.

Relevant External Links for ABCD4

Genetic Association Database (GAD)
ABCD4
Human Genome Epidemiology (HuGE) Navigator
ABCD4
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ABCD4
genes like me logo Genes that share disorders with ABCD4: view

No data available for Genatlas for ABCD4 Gene

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 67
  2. Decreased expression of ABCD4 and BG1 genes early in the pathogenesis of X-linked adrenoleukodystrophy. (PMID: 15800013) Asheuer M. … Aubourg P. (Hum. Mol. Genet. 2005) 3 23
  3. 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
  4. 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 23
  5. Identification of a fourth half ABC transporter in the human peroxisomal membrane. (PMID: 9302272) Shani N. … Valle D. (Hum. Mol. Genet. 1997) 2 3

Products for ABCD4 Gene

Sources for ABCD4 Gene

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