Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
5825
Gene name Gene Name - the full gene name approved by the HGNC.
ATP binding cassette subfamily D member 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ABCD3
Synonyms (NCBI Gene) Gene synonyms aliases
ABC43, CBAS5, PMP70, PXMP1, ZWS2
Disease Acronyms (UniProt) Disease acronyms from UniProt database
CBAS5
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1p21.3
Summary Summary of gene provided in NCBI Entrez 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, M
miRNA miRNA information provided by mirtarbase database.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005324 Function Long-chain fatty acid transporter activity IBA 21873635
GO:0005515 Function Protein binding IPI 10551832, 10704444, 10777694, 11453642, 11590176, 11883941, 14709540, 16344115, 17609205, 21102411
GO:0005524 Function ATP binding IBA 21873635
GO:0005524 Function ATP binding IDA 11248239
GO:0005739 Component Mitochondrion IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
170995 67 ENSG00000117528
Protein
UniProt ID 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
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Unknown
Disease term Disease name Evidence References Source
Congenital Bile Acid Synthesis Defect congenital bile acid synthesis defect 5 GenCC
Associations from Text Mining
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