Wolframin, a multi-pass membrane protein found in the endoplasmic reticulum, is expressed by the Wolfram syndrome 1 gene (WFS1) []. The detailed molecular function of the protein is not known, but it is believed to participate, at least in part, in the regulation of cellular calcium homeostasis by modulating the filling state of the endoplasmic reticulum calcium store.Defects in WFS1 cause Wolfram Syndrome (WFS), also referred to as DIDMOAD []- this syndrome is characterised by diabetes insipidus, childhood-onset diabetes mellitus, gradual loss of vision owing to optic atrophy, and deafness []. It is a rare autosomal recessive disorder, and may give rise to other complications affecting the bladder and nervous system.
Wolframin, a multi-pass membrane protein found in the endoplasmic reticulum, is expressed by the Wolfram syndrome 1 gene (WFS1) []. The detailed molecular function of the protein is not known, but it is believed to participate, at least in part, in the regulation of cellular calcium homeostasis by modulating the filling state of the endoplasmic reticulum calcium store.Defects in WFS1 cause Wolfram Syndrome (WFS), also referred to as DIDMOAD []- this syndrome is characterised by diabetes insipidus, childhood-onset diabetes mellitus, gradual loss of vision owing to optic atrophy, and deafness []. It is a rare autosomal recessive disorder, and may give rise to other complications affecting the bladder and nervous system.Wolframin homologues have been identified in a range of species, from mammals and amphibia to insects. Notwithstanding regions of high similarity, vertebrate and invertebrate wolframins exhibit characteristic lineage- specific differences. This entry represents the Wolframin family, and includes homologues from invertebrates.
Located N-terminal to the wolframin OB-fold domain, this region could represent an extension to the core of the OB fold domain. The observed conserved cysteine residues could contribute to disulfide-bond-mediated cross-linking in calcium-stores regulation [].Wolframin, a multi-pass membrane protein found in the endoplasmic reticulum, is expressed by the Wolfram syndrome 1 gene (WFS1) []. The detailed molecular function of the protein is not known, but it is believed to participate, at least in part, in the regulation of cellular calcium homeostasis by modulating the filling state of the endoplasmic reticulum calcium store.Defects in WFS1 cause Wolfram Syndrome (WFS), also referred to as DIDMOAD []- this syndrome is characterised by diabetes insipidus, childhood-onset diabetes mellitus, gradual loss of vision owing to optic atrophy, and deafness []. It is a rare autosomal recessive disorder, and may give rise to other complications affecting the bladder and nervous system.Wolframin homologues have been identified in a range of species, from mammals and amphibia to insects. Notwithstanding regions of high similarity, vertebrate and invertebrate wolframins exhibit characteristic lineage- specific differences. This entry represents the Wolframin family, and includes homologues from invertebrates.
This domain contains two characteristic copies of the bihelical repeat forming the basic EF-hand unit. The absence of the characteristic calcium-binding motif DxDxDG suggests that it could self-dimerize or dimerize with other EF-hand-containing proteins [].Wolframin, a multi-pass membrane protein found in the endoplasmic reticulum, is expressed by the Wolfram syndrome 1 gene (WFS1) []. The detailed molecular function of the protein is not known, but it is believed to participate, at least in part, in the regulation of cellular calcium homeostasis by modulating the filling state of the endoplasmic reticulum calcium store.Defects in WFS1 cause Wolfram Syndrome (WFS), also referred to as DIDMOAD []- this syndrome is characterised by diabetes insipidus, childhood-onset diabetes mellitus, gradual loss of vision owing to optic atrophy, and deafness []. It is a rare autosomal recessive disorder, and may give rise to other complications affecting the bladder and nervous system.Wolframin homologues have been identified in a range of species, from mammals and amphibia to insects. Notwithstanding regions of high similarity, vertebrate and invertebrate wolframins exhibit characteristic lineage- specific differences. This entry represents the Wolframin family, and includes homologues from invertebrates.
This is the OB-fold domain found at the C terminus of the wolframin protein. It localizes to the ER lumen and lacks the conserved polar residues typical of OB-fold domain-mediated nucleic acid-binding. It has been predicted to mediate protein-protein interactions [].Wolframin, a multi-pass membrane protein found in the endoplasmic reticulum, is expressed by the Wolfram syndrome 1 gene (WFS1) []. The detailed molecular function of the protein is not known, but it is believed to participate, at least in part, in the regulation of cellular calcium homeostasis by modulating the filling state of the endoplasmic reticulum calcium store.Defects in WFS1 cause Wolfram Syndrome (WFS), also referred to as DIDMOAD []- this syndrome is characterised by diabetes insipidus, childhood-onset diabetes mellitus, gradual loss of vision owing to optic atrophy, and deafness []. It is a rare autosomal recessive disorder, and may give rise to other complications affecting the bladder and nervous system.Wolframin homologues have been identified in a range of species, from mammals and amphibia to insects. Notwithstanding regions of high similarity, vertebrate and invertebrate wolframins exhibit characteristic lineage- specific differences. This entry represents the Wolframin family, and includes homologues from invertebrates.
This entry represents the N-terminal Sel1-like repeats found in the wolframin protein. This region has been linked to calmodulin-binding, suggesting these repeats may mediate a protein interaction [, ].Wolframin, a multi-pass membrane protein found in the endoplasmic reticulum, is expressed by the Wolfram syndrome 1 gene (WFS1) []. The detailed molecular function of the protein is not known, but it is believed to participate, at least in part, in the regulation of cellular calcium homeostasis by modulating the filling state of the endoplasmic reticulum calcium store.Defects in WFS1 cause Wolfram Syndrome (WFS), also referred to as DIDMOAD []- this syndrome is characterised by diabetes insipidus, childhood-onset diabetes mellitus, gradual loss of vision owing to optic atrophy, and deafness []. It is a rare autosomal recessive disorder, and may give rise to other complications affecting the bladder and nervous system.Wolframin homologues have been identified in a range of species, from mammals and amphibia to insects. Notwithstanding regions of high similarity, vertebrate and invertebrate wolframins exhibit characteristic lineage- specific differences. This entry represents the Wolframin family, and includes homologues from invertebrates.
