We have cloned the cDNA of a novel human ABC-half-transporter highly similar to peroxisomal ABC-half-transporters such as the adrenoleukodystrophy protein (ALDP) and the peroxisomal protein 70 (PMP70). This 2927-bp cDNA codes for a 606 aminoacid (68.6 kDa) protein that was designated PMP69 (putative peroxisomal membrane protein). PMP69 is ubiquitously expressed. Transcript variants resulting from alternative polyadenylation and splicing events including one that confers an alternative C-terminus have been found. The PMP69 gene is localized on chromosome 14q24.3. ABC-half-transporters require a partner ABC-half-transporter to constitute a functional complex, either as a homodimer or a heterodimer. Defects in the gene coding for ALDP are the cause of adrenoleukodystrophy, a demyelinating disorder of the nervous system with strikingly varying clinical courses. PMP70 was implicated in the pathogenesis of a subgroup of Zellweger syndrome, a heterogenous group of peroxisome assembly disorders. PMP69 might be a heterodimer partner for one of these proteins, thus playing a role in modifying the clinical course of ALD or, alternatively, in peroxisome biogenesis.
We have cloned the cDNA of a novel human ABC-half-transporter highly similar to peroxisomal ABC-half-transporters such as the adrenoleukodystrophy protein (ALDP) and the peroxisomal protein 70 (PMP70). This 2927-bp cDNA codes for a 606 aminoacid (68.6 kDa) protein that was designated PMP69 (putative peroxisomal membrane protein). PMP69 is ubiquitously expressed. Transcript variants resulting from alternative polyadenylation and splicing events including one that confers an alternative C-terminus have been found. The PMP69 gene is localized on chromosome 14q24.3. ABC-half-transporters require a partner ABC-half-transporter to constitute a functional complex, either as a homodimer or a heterodimer. Defects in the gene coding for ALDP are the cause of adrenoleukodystrophy, a demyelinating disorder of the nervous system with strikingly varying clinical courses. PMP70 was implicated in the pathogenesis of a subgroup of Zellweger syndrome, a heterogenous group of peroxisome assembly disorders. PMP69 might be a heterodimer partner for one of these proteins, thus playing a role in modifying the clinical course of ALD or, alternatively, in peroxisome biogenesis.
The chemical reactions and pathways involving cobalamin (vitamin B12), a water-soluble vitamin characterized by possession of a corrin nucleus containing a cobalt atom.
Evidence
1:
Inferred from Mutant PhenotypeUniProtKB
Inherited disorders of vitamin B12 (cobalamin) have provided important clues to how this vitamin, which is essential for hematological and neurological function, is transported and metabolized. We describe a new disease that results in failure to release vitamin B12 from lysosomes, which mimics the cblF defect caused by LMBRD1 mutations. Using microcell-mediated chromosome transfer and exome sequencing, we identified causal mutations in ABCD4, a gene that codes for an ABC transporter, which was previously thought to have peroxisomal localization and function. Our results show that ABCD4 colocalizes with the lysosomal proteins LAMP1 and LMBD1, the latter of which is deficient in the cblF defect. Furthermore, we show that mutations altering the putative ATPase domain of ABCD4 affect its function, suggesting that the ATPase activity of ABCD4 may be involved in intracellular processing of vitamin B12.
We have cloned the cDNA of a novel human ABC-half-transporter highly similar to peroxisomal ABC-half-transporters such as the adrenoleukodystrophy protein (ALDP) and the peroxisomal protein 70 (PMP70). This 2927-bp cDNA codes for a 606 aminoacid (68.6 kDa) protein that was designated PMP69 (putative peroxisomal membrane protein). PMP69 is ubiquitously expressed. Transcript variants resulting from alternative polyadenylation and splicing events including one that confers an alternative C-terminus have been found. The PMP69 gene is localized on chromosome 14q24.3. ABC-half-transporters require a partner ABC-half-transporter to constitute a functional complex, either as a homodimer or a heterodimer. Defects in the gene coding for ALDP are the cause of adrenoleukodystrophy, a demyelinating disorder of the nervous system with strikingly varying clinical courses. PMP70 was implicated in the pathogenesis of a subgroup of Zellweger syndrome, a heterogenous group of peroxisome assembly disorders. PMP69 might be a heterodimer partner for one of these proteins, thus playing a role in modifying the clinical course of ALD or, alternatively, in peroxisome biogenesis.
Protein involved in the transport of a molecule (metabolite, protein, etc), a ion or an electron across cell membranes, inside the cell or in a tissue fluid.
A reference proteome is a set of protein sequences derived from a complete proteome which constitutes a defined standard for a particular user community. Reference proteomes are manually defined according to a number of criteria. They cover the proteomes of well- studied model organisms and other proteomes of interest for biomedical and biotechnological research. Reference proteomes have been selected to provide broad coverage of the tree of life, and constitute a representative cross-section of the taxonomic diversity to be found within UniProtKB.
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