Transmembrane anterior posterior transformation protein 1 homolog (TAPT1)
The protein contains 567 amino acids for an estimated molecular weight of 64260 Da.
Plays a role in primary cilia formation (PubMed:26365339). May act as a downstream effector of HOXC8 possibly by transducing or transmitting extracellular information required for axial skeletal patterning during development (By similarity). May be involved in cartilage and bone development (By similarity). May play a role in the differentiation of cranial neural crest cells (By similarity).', '(Microbial infection) In case of infection, may act as a fusion receptor for cytomegalovirus (HCMV) strain AD169. (updated: July 5, 2004)
Protein identification was indicated in the following studies:
- 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.
- 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 predicted to be membranous by TOPCONS.
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| Variant | Description |
|---|---|
| OCLSBG | |
| dbSNP:rs35606284 | |
| dbSNP:rs16893137 |
No binding partner found
Biological Process
Cartilage development
Cell projection organization
Embryonic skeletal system development
In utero embryonic development
Maintenance of protein localization in endoplasmic reticulum
Neural crest cell development
Ossification
Positive regulation of bone development
Positive regulation of cartilage development
Positive regulation of cilium assembly
Post-embryonic development
Viral process
The reference OMIM entry for this protein is 612758
Transmembrane anterior posterior transformation 1; tapt1
Cytomegalovirus gh fusion receptor; cmvfr
CLONING
Baldwin et al. (1996) screened a human embryonic lung (HEL) cDNA library and found clones expressing peptides that bound to 2 human cytomegalovirus (HCMV) envelope glycoproteins, 4-3-5 and 6-5-1. They subsequently cloned partial TAPT1, which they called CMVFR. Baldwin et al. (2000) characterized the deduced 345-amino acid CMVFR protein, which contains 2 putative transmembrane regions, 3 putative nuclear localization signals, numerous cysteine residues, and shares similarity to protamines (see PRM1; 182880) and other human DNA-binding proteins. Howell et al. (2007) determined that CMVFR corresponds to a splice variant of TAPT1 containing exon 1, part of exon 4, and part of intron 4, in which it terminates. They noted that much of the CMVFR sequence is encoded by intron 4. Using a positional cloning approach, followed by screening for ENU-induced mutations on mouse chromosome 5, Howell et al. (2007) cloned mouse Tapt1. The full-length protein contains 565 amino acids and has as many as 6 transmembrane domains. EST database analysis and RT-PCR analysis confirmed ubiquitous expression of Tapt1 in adult tissues and whole embryos.GENE FUNCTION
By plaque assay in human embryonic lung cells, Baldwin et al. (1996) showed that the CMVFR peptides inhibited HCMV infectivity and fusion of HCMV-HEL cell membranes. Baldwin et al. (2000) confirmed this result using the full-length CMVFR protein. Through epitope mapping studies, they showed that residues 204 to 214 contain epitopes bound by both of the monoclonal antibodies (4-3-5 and 6-5-1) used in their earlier studies.GENE STRUCTURE
Howell et al. (2007) determined that the TAPT1 gene contains 14 exons spanning 65.2 kb.MAPPING
By genomic sequence analysis, Baldwin et al. (2000) mapped the TAPT1 gene to chromosome 4. Howell et al. (2007) mapped the corresponding mouse Tapt1 gene to chromosome 5.ANIMAL MODEL
The perinatal lethal mouse mutation, L5Jcs1, is associated with homeotic transformation of the axial skeleton similar to that observed in mice lacking Hoxc8 (142970). Howell et al. (2007) identified mutation in the mouse Tapt1 gene as the cause of skeletal homeotic transformation and embryonic lethality. Although Hoxc8-null mice display a similar phenotype, Howell et al. (2007) found no alteration in Hoxc8 expression in embryos homozygous for the Tapt1 L5Jcs1 mutation. ... More on the omim web site
Feb. 23, 2019: Protein entry updated
Automatic update: model status changed
Oct. 20, 2018: Protein entry updated
Automatic update: OMIM entry 612758 was added.
Oct. 19, 2018: Additional information
Initial protein addition to the database. This entry was referenced in Bryk and co-workers. (2017).