Solute carrier family 12 member 6 (SLC12A6)
The protein contains 1150 amino acids for an estimated molecular weight of 127617 Da.
Mediates electroneutral potassium-chloride cotransport. May be activated by cell swelling. May contribute to cell volume homeostasis in single cells. (updated: March 4, 2015)
Protein identification was indicated in the following studies:
- Goodman and co-workers. (2013) The proteomics and interactomics of human erythrocytes. Exp Biol Med (Maywood) 238(5), 509-518.
- Lange and co-workers. (2014) Annotating N termini for the human proteome project: N termini and Nα-acetylation status differentiate stable cleaved protein species from degradation remnants in the human erythrocyte proteome. J Proteome Res. 13(4), 2028-2044.
- Hegedűs and co-workers. (2015) Inconsistencies in the red blood cell membrane proteome analysis: generation of a database for research and diagnostic applications. Database (Oxford) 1-8.
- Bryk and co-workers. (2017) Quantitative Analysis of Human Red Blood Cell Proteome. J Proteome Res. 16(8), 2752-2761.
- D'Alessandro and co-workers. (2017) Red blood cell proteomics update: is there more to discover? Blood Transfus. 15(2), 182-187.
Methods
The following articles were analysed to gather the proteome content of erythrocytes.
The gene or protein list provided in the studies were processed using the ID mapping API of Uniprot in September 2018. The number of proteins identified and mapped without ambiguity in these studies is indicated below.
Only Swiss-Prot entries (reviewed) were considered for protein evidence assignation.
| Publication | Identification 1 | Uniprot mapping 2 | Not mapped / Obsolete | TrEMBL | Swiss-Prot |
|---|---|---|---|---|---|
| Goodman (2013) | 2289 (gene list) | 2278 | 53 | 20599 | 2269 |
| Lange (2014) | 1234 | 1234 | 7 | 28 | 1224 |
| Hegedus (2015) | 2638 | 2622 | 0 | 235 | 2387 |
| Wilson (2016) | 1658 | 1528 | 170 | 291 | 1068 |
| d'Alessandro (2017) | 1826 | 1817 | 2 | 0 | 1815 |
| Bryk (2017) | 2090 | 2060 | 10 | 108 | 1942 |
| Chu (2018) | 1853 | 1804 | 55 | 362 | 1387 |
1 as available in the article and/or in supplementary material
2 uniprot mapping returns all protein isoforms as one entry
The compilation of older studies can be retrieved from the Red Blood Cell Collection database.
The data and differentiation stages presented below come from the proteomic study and analysis performed by our partners of the GReX consortium, more details are available in their published work.
This protein is annotated as membranous in Gene Ontology, is annotated as membranous in UniProt, is predicted to be membranous by TOPCONS.
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| Variant | Description |
|---|---|
| dbSNP:rs2705339 |
No binding partner found
Biological Process
Ammonium import across plasma membrane
Angiogenesis
Cell volume homeostasis
Cellular hypotonic response
Cellular hypotonic salinity response
Chemical synaptic transmission
Chloride ion homeostasis
Chloride transmembrane transport
Ion transport
Obsolete rubidium ion transport
Potassium ion homeostasis
Potassium ion import
Potassium ion import across plasma membrane
Potassium ion transport
Transmembrane transport
The reference OMIM entry for this protein is 218000
Agenesis of the corpus callosum with peripheral neuropathy; accpn
Charlevoix disease
Andermann syndrome
Polyneuropathy, sensorimotor, with or without agenesis of the corpus callosum
Corpus callosum, agenesis of, with neuronopathy
A number sign (#) is used with this entry because autosomal recessive agenesis of the corpus callosum with peripheral neuropathy (ACCPN), also known as Andermann syndrome, is caused by homozygous or compound heterozygous mutation in the SLC12A6 gene (604878) on chromosome 15q14.
DESCRIPTION
Andermann syndrome is an autosomal recessive motor and sensory neuropathy with agenesis of the corpus callosum associated with developmental and neurodegenerative defects and dysmorphic features. It has a high prevalence in the French Canadian population in the Charlevoix and Saguenay-Lac-Saint-Jean region of Quebec (Uyanik et al., 2006). Dupre et al. (2003) provided a comprehensive review of the disorder. Dobyns (1996) reviewed the many genetic causes of agenesis of the corpus callosum.CLINICAL FEATURES
Naiman and Fraser (1955) described 2 sisters, and Ziegler (1958) described 2 brothers with agenesis of the corpus callosum associated with mental and physical retardation. Andermann et al. (1972) observed 2 brothers with mental retardation, areflexia and paraparesis. The authors postulated an anterior horn cell disease. The clinical picture was the same as in the sisters reported by Naiman and Fraser (1955) and the 2 families were French Canadian from the Charlevoix County in Quebec. Andermann et al. (1977) extended these studies to identify 45 patients in 24 sibships, descendants from a couple married in Quebec City, Charlevoix County, in 1657. Brain CT imaging demonstrated agenesis of the corpus callosum. Cao et al. (1977) reported 3 sibs, a male and 2 females, with severe mental retardation, spastic quadriplegia, microcephaly, and infantile spasms. Two sibs had agenesis of the corpus callosum on pneumoencephalogram. Other reports of familial agenesis of the corpus callosum consistent with autosomal recessive inheritance were published by Shapira and Cohen (1973) and Castro Gago et al. (1982). The former report concerned 2 affected sisters whose parents were more closely related than first cousins. The latter report concerned 2 sisters and 2 daughters of a paternal uncle of their father. The 2 sisters, studied at 6 years and 15 months of age, respectively, had progressive psychomotor regression, microcephaly, optic atrophy and seizures. CT scan showed absence of the corpus callosum, subcortical atrophy and gray substance heterotopy at the level of the ventricles. Larbrisseau et al. (1984) studied 15 cases and described a characteristic dysmorphic facies. The authors observed that progressive motor neuropathy led to loss of ambulation by adolescence and progressive scoliosis. Hauser et al. (1993) reported cases of agenesis of the corpus callosum with neuronopathy in a brother and sister in Vienna. Uyanik et al. (2006) reported 3 unrelated patients with Andermann syndrome; 1 was German and 2 Turkish. The German child presented at age 13 days with feeding difficulties and hypotonia. Over the next few months, she was found to have complete absence of the corpus callosum with ventricular enlargement and areflexia with an axonal and demyelinating peripheral neuropathy. Lumbar puncture showed increased CSF protein. At age 3 years, she had marked psychomotor retardation with inability to walk or speak. Mild facial dysmorphism was present, including hypertelorism, short nose, broad nasal root, and downplaced first toe and thumb. The second child, born of consanguineous Turkish parents, presented with diffuse hypotonic weakness, psycho ... More on the omim web site
Feb. 2, 2018: Protein entry updated
Automatic update: Uniprot description updated
Dec. 19, 2017: Protein entry updated
Automatic update: Uniprot description updated
March 16, 2016: Protein entry updated
Automatic update: OMIM entry 218000 was added.