TBC1 domain family member 24 (TBC1D24)
The protein contains 559 amino acids for an estimated molecular weight of 62919 Da.
May act as a GTPase-activating protein for Rab family protein(s) (PubMed:20727515, PubMed:20797691). Involved in neuronal projections development, probably through a negative modulation of ARF6 function (PubMed:20727515). Involved in the regulation of synaptic vesicle trafficking (PubMed:31257402). (updated: April 22, 2020)
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.
- 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.
- Wilson and co-workers. (2016) Comparison of the Proteome of Adult and Cord Erythroid Cells, and Changes in the Proteome Following Reticulocyte Maturation. Mol Cell Proteomics. 15(6), 1938-1946.
- 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.
- Chu and co-workers. (2018) Quantitative mass spectrometry of human reticulocytes reveal proteome-wide modifications during maturation. Br J Haematol. 180(1), 118-133.
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.
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No binding partner found
Biological Process
Neuron death in response to oxidative stress
Neuron projection development
Positive regulation of GTPase activity
The reference OMIM entry for this protein is 220500
Deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures syndrome; doors
Door syndrome
Digitorenocerebral syndrome
Drc syndrome
Brachydactyly due to absence of distal phalanges
Eronen syndrome
A number sign (#) is used with this entry because deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures syndrome (DOORS) is caused by homozygous or compound heterozygous mutation in the TBC1D24 gene (613577) on chromosome 16p13.
DESCRIPTION
The DOOR syndrome is an acronym for deafness, onychodystrophy, osteodystrophy, and mental retardation. Cantwell (1975) suggested this designation for the disorder, which can also include triphalangeal thumbs, seizures, and abnormal dermatoglyphics. Inheritance is autosomal recessive. See also DDOD syndrome (124480), which shows autosomal dominant inheritance of congenital deafness and onychodystrophy without mental retardation.CLINICAL FEATURES
Walbaum et al. (1970) described a brother and sister with mental retardation, perceptive deafness, dysplasia of the fingernails, triphalangeal thumbs, hypoplasia of the terminal phalanges, and 'decapsalidic' fingerprints, i.e., an arch pattern on each finger. The patient reported by Qazi and Smithwick (1970) may have had the same disorder. Eronen et al. (1985) reported a constellation of features in a male infant who had 2 double first cousins, females, who had died with the same disorder. The patients had absence of the distal phalanges and nails of all 10 digits, cystic dysplasia of the kidneys, and dilated right cerebral ventricle. The 2 cousins died at age 2 years and 2 hours, respectively. The proband and the older surviving cousin had convulsions. Le Merrer et al. (1992) described this syndrome in 2 unrelated children. Absence or hypoplasia of the distal phalanges of the toes and fingers was a particularly striking feature. Expression of the renal and cerebral manifestations was variable. One patient had seizures with abnormal EEG and a double kidney with 2 ureters and 2 renal arteries; he died at the age of 6 months. Both patients showed a large nose with wide nasal tip. Lin et al. (1993) reported what they considered to be the seventeenth case of the recessive form of the DOOR syndrome. The parents were not known to be consanguineous. The patient had developmental delay, severe sensorineural deafness, and abnormal nails and phalanges in the hands and feet. Urinary 2-oxoglutarate excretion was normal. There were no seizures in infancy. Rajab et al. (2000) reported an additional 4 cases of DOOR syndrome in 2 related sibships from an extended Omani family. The children had deafness, onychodystrophy, osteodystrophy, microcephaly, and global developmental retardation with progressive blindness. Seizures, which were associated with hypsarrhythmia, were frequent and difficult to control and ultimately were the cause of death in 2 patients. An MRI of the brain in 1 patient showed a number of abnormalities including markedly reduced myelination. The urine organic acid analysis showed a 10-fold increase of 2-oxoglutarate. In 1 patient the placenta was noted to have multiple fluid-filled cysts. Rajab et al. (2000) suggested that there may be genetic heterogeneity in the autosomal recessive form of this syndrome, and that the presence of increased 2-oxoglutarate is associated with a more severe phenotype, which is frequently lethal. Surendran et al. (2002) studied the activity of 2-oxoglutarate decarboxylase in the fibroblasts and white blood cells of 4 patients with autosomal recessive DOOR syndrome and found significantly lower levels as compared to controls. Felix et al. (2002) reported 3 cases of DOOR syndrome in un ... More on the omim web site
April 25, 2020: Protein entry updated
Automatic update: Entry updated from uniprot information.
Dec. 10, 2018: Protein entry updated
Automatic update: model status changed
Nov. 16, 2018: Protein entry updated
Automatic update: Entry updated from uniprot information.
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 220500 was added.