HCLS1-binding protein 3 (HS1BP3)
The protein contains 392 amino acids for an estimated molecular weight of 42780 Da.
May be a modulator of IL-2 signaling. (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.
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.
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| Variant | Description |
|---|---|
| dbSNP:rs2305458 | |
| dbSNP:rs35589938 | |
| dbSNP:rs35579164 | |
| dbSNP:rs3732149 |
The reference OMIM entry for this protein is 609359
Hs1-binding protein 3; hs1bp3
Flj14249
CLONING
Higgins et al. (2005) identified the HS1BP3 gene, corresponding to the FLJ14249 transcript, in a search for candidate genes for familial essential tremor (see 190300). The full-length transcript consists of 3,323 basepairs. Two putative alternatively spliced variants encode distinct protein isoforms; the first, of 2,376 basepairs, encodes a protein with a divergent C terminus, and the second 1,795-basepair variant lacks an internal region present in the first variant. By RT-PCR, Higgins et al. (2005) demonstrated that the HS1BP3 gene and its 2 isoforms are expressed in human brain. The murine Hs1bp3 gene is expressed in brain and binds to Hs1 protein (Takemoto et al., 1999).GENE FUNCTION
HS1BP3 binds members of the 14-3-3 protein family (see 609009), which are highly expressed in motor neurons and Purkinje cells and regulate the Ca(2+)/calmodulin-dependent protein kinase activation of tyrosine and tryptophan hydroxylase (Higgins et al., 2005; Takemoto et al., 1999).GENE STRUCTURE
Higgins et al. (2005) determined that the HS1BP3 gene contains 7 exons.MAPPING
Higgins et al. (2005) identified the HS1BP3 gene within the candidate region for familial essential tremor on chromosome 2p24.1 (ETM2; 602134).MOLECULAR GENETICS
Although Higgins et al. (2005) suggested that a substitution in the HS1BP3 gene was associated with familial essential tremor linked to chromosome 2p24 (602134), Deng et al. (2005) found no association between the reported substitution and essential tremor or Parkinson disease (168600) among 222 and 285 affected patients, respectively. Furthermore, the substitution allele was present in 12 (9.1%) of 132 control individuals, indicating it is a polymorphism. ... 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
Nov. 23, 2017: Protein entry updated
Automatic update: Uniprot description updated
March 16, 2016: Protein entry updated
Automatic update: OMIM entry 609359 was added.