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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
  • 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
  • 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 several protein-coding and non-protein-coding variants. [provided by RefSeq, Jul 2017]

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 Methylmalonic Acidemia With Homocystinuria Type Cblj. Among its related pathways are CDK-mediated phosphorylation and removal of Cdc6 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

Additional gene information for ABCD4 Gene

No data available for CIViC summary , 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 Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH14H074140 1.6 FANTOM5 Ensembl ENCODE 21.2 +162.5 162493 0 PKNOX1 FEZF1 ZNF2 YY1 ZNF121 GLIS2 KLF7 SP3 YY2 TSHZ1 MLH3 YLPM1 ENSG00000258559 ABCD4 LIN52 ENSG00000259138 ELMSAN1 NEK9 ENSG00000258443 ALDH6A1
GH14H073748 1.8 FANTOM5 ENCODE dbSUPER 13.3 +545.4 545439 17 HDGF PKNOX1 FOXA2 MLX ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 ELMSAN1 ZNF410 RBM25 PNMA1 ENSG00000258559 LOC100506476 ABCD4 ENSG00000258891 NUMB FCF1
GH14H073767 1.9 FANTOM5 Ensembl ENCODE dbSUPER 11.8 +531.5 531525 7 HDGF PKNOX1 MLX ARNT ZFP64 ARID4B SIN3A FEZF1 DMAP1 SLC30A9 ENSG00000258559 RBM25 YLPM1 NT5CP1 PTGR2 LOC100506476 ABCD4 PNMA1 ENSG00000223300 ELMSAN1
GH14H073711 1.3 ENCODE dbSUPER 16.5 +589.2 589240 3 HDGF ATF1 ARID4B SIN3A DMAP1 YY1 ZNF143 KLF7 ATF7 RUNX3 RBM25 ENSG00000258559 HEATR4 ABCD4 SUB1P2 RPS2P2 PNMA1 ELMSAN1 LOC100506476 PIR61365
GH14H074564 1.9 FANTOM5 Ensembl ENCODE dbSUPER 10.7 -267.5 -267487 11 PKNOX1 SIN3A FEZF1 GLI4 ZBTB7B ZNF416 FOS KLF7 SP3 YY2 ELMSAN1 ZNF410 YLPM1 FCF1 ENSG00000258559 MLH3 NEK9 PROX2 LTBP2 ENSG00000259005
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

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
ENSR00000070716 564 1801 FOXA2 ARID4B SIN3A DMAP1 YY1 ETS1 ZNF121 SLC30A9 GLIS2 ELK1

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

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

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Transporters

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 :
  • Belongs to the ABC transporter superfamily. ABCD family. Peroxisomal fatty acyl CoA transporter (TC 3.A.1.203) subfamily.
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.

Phenotypes From GWAS Catalog for ABCD4 Gene

Gene Ontology (GO) - Molecular Function for ABCD4 Gene

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

CRISPR Products

miRNA for ABCD4 Gene

miRTarBase miRNAs that target ABCD4

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for ABCD4
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ABCD4 gene
Compartment Confidence
plasma membrane 5
peroxisome 5
lysosome 5
endoplasmic reticulum 3
mitochondrion 1
golgi apparatus 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 IEA,IDA 9302272
GO:0005778 peroxisomal membrane IEA --
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with ABCD4: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ABCD4 Gene

Pathways & Interactions for ABCD4 Gene

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

Gene Ontology (GO) - Biological Process for ABCD4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0009235 cobalamin metabolic process TAS --
GO:0055085 transmembrane transport NAS,IEA 9266848
GO:1990830 cellular response to leukemia inhibitory factor IEA --
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:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for ABCD4
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for ABCD4 Gene



NURSA nuclear receptor signaling pathways regulating expression of ABCD4 Gene:

ABCD4

SOURCE GeneReport for Unigene cluster for ABCD4 Gene:

Hs.94395

mRNA Expression by UniProt/SwissProt for ABCD4 Gene:

O14678-ABCD4_HUMAN
Tissue specificity: Ubiquitous.

Evidence on tissue expression from TISSUES for ABCD4 Gene

  • Nervous system(4.3)
  • Muscle(4.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ABCD4 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • eye
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • neck
  • skull
Thorax:
  • chest wall
  • clavicle
  • diaphragm
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • abdominal wall
  • intestine
Pelvis:
  • pelvis
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • coagulation system
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • spinal column
  • vertebrae
  • white blood cell
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
chimpanzee
(Pan troglodytes)
Mammalia ABCD4 33 34
  • 99.39 (n)
dog
(Canis familiaris)
Mammalia ABCD4 34 33
  • 90.54 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ABCD4 34
  • 89 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Abcd4 33
  • 88.21 (n)
mouse
(Mus musculus)
Mammalia Abcd4 33 16 34
  • 88.17 (n)
oppossum
(Monodelphis domestica)
Mammalia ABCD4 34
  • 80 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ABCD4 34
  • 56 (a)
OneToOne
chicken
(Gallus gallus)
Aves ABCD4 33 34
  • 74.75 (n)
lizard
(Anolis carolinensis)
Reptilia ABCD4 34
  • 74 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia abcd4 33
  • 62.89 (n)
zebrafish
(Danio rerio)
Actinopterygii abcd4 33 34
  • 65.25 (n)
Dr.18695 33
worm
(Caenorhabditis elegans)
Secernentea pmp-3 33 34
  • 47.27 (n)
C54G10.3 35
  • 41 (a)
pmp-5 34
  • 31 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PXA1 34
  • 17 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 45 (a)
OneToOne
Species where no ortholog for ABCD4 was found in the sources mined by GeneCards:
  • 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
rs201777056 Pathogenic, Methylmalonic aciduria and homocystinuria type cblJ (MAHCJ) [MIM:614857] 74,292,623(+) TGAGG(C/G/T)AGATG nc-transcript-variant, reference, missense
rs387907315 Pathogenic 74,286,706(-) GCCTT(-/CT)GAGAA nc-transcript-variant, reference, utr-variant-3-prime, frameshift-variant
rs769364566 Pathogenic 74,296,332(+) CTTCA(A/C/T)CTTTG splice-donor-variant
rs147446660 Uncertain significance 74,300,166(+) AGGCA(C/G)AAAAG intron-variant, nc-transcript-variant, reference, missense, utr-variant-5-prime
rs374984401 Uncertain significance 74,290,381(+) TCCCT(C/T)GGAGA nc-transcript-variant, reference, missense

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

Variant ID Type Subtype PubMed ID
esv3551772 CNV deletion 23714750
nsv565182 CNV loss 21841781
nsv565183 CNV loss 21841781

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
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ABCD4

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

Disorders for ABCD4 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
methylmalonic aciduria and homocystinuria, cblj type
  • methylmalonic acidemia with homocystinuria, type cblj
methylmalonic acidemia with homocystinuria type cblj
  • methylmalonic aciduria and homocystinuria, cblj type
cbij
adrenoleukodystrophy
  • adrenomyeloneuropathy, adult
homocystinuria
  • cbs deficiency
- 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 AA (Biochemical and biophysical research communications 1997) 2 3 4 22 60
  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 letters 1998) 3 4 22 60
  3. Identification of a fourth half ABC transporter in the human peroxisomal membrane. (PMID: 9302272) Shani N … Valle D (Human molecular genetics 1997) 2 3 4 60
  4. Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism. (PMID: 22922874) Coelho D … Baumgartner MR (Nature genetics 2012) 3 4 60
  5. Association study between single-nucleotide polymorphisms in 199 drug-related genes and commonly measured quantitative traits of 752 healthy Japanese subjects. (PMID: 19343046) Saito A … Kamatani N (Journal of human genetics 2009) 3 45 60

Products for ABCD4 Gene

Sources for ABCD4 Gene

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