| Gene Information | |
|---|---|
| Gene Name | ABCD4 |
| Organism | Homo sapiens (Human) |
| Gene Length | 606 |
| Protein Names | Lysosomal cobalamin transporter ABCD4 (EC 7.6.2.8) (ATP-binding cassette sub-family D member 4) (PMP70-related protein) (P70R) (Peroxisomal membrane protein 1-like) (PXMP1-L) (Peroxisomal membrane protein 69) (PMP69) |
| Target Name | NA |
| Target Type | NA |
| Gene Age | 1064 ( ENSG00000119688 ) |
| Evolutionary Stage | Euk+Bac |
| AlphaFoldDB | O14678 |
| Gene Card | ABCD4 |
| Uniprot ID | O14678 |
| Pfam | PF06472; PF00005 |
| In ASD | no |
| Allosteric Prediction | no (-0.053513709) |
| Ortholog in Animals | Alpaca_ ABCD4 ( ortholog_one2one ) GuineaPig_ ABCD4 ( ortholog_one2one ) Macaque_ ABCD4 ( ortholog_one2one ) Mouse_ Abcd4 ( ortholog_one2one ) Pig_ ABCD4 ( ortholog_one2one ) Rat_ Abcd4 ( ortholog_one2one ) Rabbit_ ABCD4 ( ortholog_one2one ) |
| Ohnologs | NA |
| Paralogs | ABCD3, ABCD1, ABCD2 |
| Tissue | NA |
| Tissue Specificity | Ubiquitous. |
| Pharmacological Animal Models | NA |
| Gene Ontology (biological process) |
|
| Gene Ontology (cellular component) |
|
| Gene Ontology (molecular function) |
|
| PDB | 6JBJ (EM 3.60A ) |
| DBSNP | rs776529140 rs34992370 rs4148077 rs201777056 rs35073715 rs3742801 rs745414252 |
| Subcellular location [CC] | Endoplasmic reticulum membrane {ECO:0000269|PubMed:27456980}; Multi-pass membrane protein {ECO:0000255}. Lysosome membrane {ECO:0000269|PubMed:22922874, ECO:0000269|PubMed:25535791, ECO:0000269|PubMed:27456980, ECO:0000269|PubMed:28572511, ECO:0000269|PubMed:33845046}; Multi-pass membrane protein {ECO:0000255}. Note=Targeted by LMBRD1 lysosomal chaperone to the lysosomal membrane. {ECO:0000269|PubMed:27456980, ECO:0000269|PubMed:28572511}. |
| Mouse PG classification | NA |
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