Gene Gene information from NCBI Gene database.
Entrez ID 5825
Gene name ATP binding cassette subfamily D member 3
Gene symbol ABCD3
Synonyms (NCBI Gene)
ABC43CBAS5PMP70PXMP1ZWS2
Chromosome 1
Chromosome location 1p21.3
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, M
miRNA miRNA information provided by mirtarbase database.
249
miRTarBase ID miRNA Experiments Reference
MIRT030935 hsa-miR-21-5p Microarray 18591254
MIRT758783 hsa-miR-323b-3p CLIP-seq
MIRT758784 hsa-miR-3926 CLIP-seq
MIRT758785 hsa-miR-4438 CLIP-seq
MIRT758786 hsa-miR-5095 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
52
GO ID Ontology Definition Evidence Reference
GO:0000038 Process Very long-chain fatty acid metabolic process IDA 29397936
GO:0000166 Function Nucleotide binding IEA
GO:0005324 Function Long-chain fatty acid transmembrane transporter activity IBA
GO:0005324 Function Long-chain fatty acid transmembrane transporter activity IEA
GO:0005324 Function Long-chain fatty acid transmembrane transporter activity IMP 24333844
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
170995 67 ENSG00000117528
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P28288
Protein name ATP-binding cassette sub-family D member 3 (EC 3.1.2.-) (EC 7.6.2.-) (70 kDa peroxisomal membrane protein) (PMP70)
Protein function Broad substrate specificity ATP-dependent transporter of the ATP-binding cassette (ABC) family that catalyzes the transport of long-chain fatty acids (LCFA)-CoA, dicarboxylic acids-CoA, long-branched-chain fatty acids-CoA and bile acids from the
PDB 8Z0F , 8Z9X
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF06472 ABC_membrane_2 70 338 ABC transporter transmembrane region 2 Family
PF00005 ABC_tran 456 599 ABC transporter Domain
Sequence
Sequence length 659
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  ABC transporters
Peroxisome
  ABC transporters in lipid homeostasis
Class I peroxisomal membrane protein import
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
14
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
ABCD3-related disorder Likely benign; Uncertain significance rs370227803, rs760083671, rs1226352263 RCV003951232
RCV003405997
RCV003959217
Cervical cancer Conflicting classifications of pathogenicity; Benign rs75418934, rs142075958 RCV005928735
RCV005906044
Clear cell carcinoma of kidney Conflicting classifications of pathogenicity rs75418934 RCV005928736
Colorectal cancer Likely benign rs370227803 RCV005869703
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adrenoleukodystrophy Associate 20661612, 23671276, 30544401, 7717396, 7876858
Carcinoma Hepatocellular Associate 34651050
Carcinoma Non Small Cell Lung Associate 23369236
Genetic Diseases Inborn Associate 8621506, 8876235
Glioma Associate 20378009, 35959373
Lymphoma Associate 28731463
Neoplasms Associate 20378009
Neoplasms Stimulate 25802834
Prostatic Neoplasms Associate 25802834
Prostatitis Associate 25802834