Exophilin-5 (EXPH5)
The protein contains 1989 amino acids for an estimated molecular weight of 222519 Da.
May act as Rab effector protein and play a role in vesicle trafficking. (updated: Sept. 12, 2018)
Protein identification was indicated in the following studies:
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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No binding partner found
The reference OMIM entry for this protein is 612878
Exophilin 5; exph5
Synaptotagmin-like protein lacking c2 domains b; slac2b
Kiaa0624
CLONING
By sequencing clones obtained from a size-fractionated brain cDNA library, Ishikawa et al. (1998) cloned EXPH5, which they designated KIAA0624. The deduced protein contains 1,983 amino acids. RT-PCR detected highest EXPH5 expression in kidney, followed by lung, brain, liver, and ovary. Little to no expression was detected in skeletal muscle or spleen. Kuroda et al. (2002) showed that EXPH5, which they called SLAC2B, contains an N-terminal synaptotagmin (see SYT1, 185605)-like homology domain (SHD). By semiquantitative RT-PCR, McGrath et al. (2012) demonstrated expression of EXPH5 in skin, muscle, heart, and brain. No amplification was achieved from kidney, liver, or lung.MAPPING
By radiation hybrid analysis, Ishikawa et al. (1998) mapped the EXPH5 gene to chromosome 11.GENE FUNCTION
Using a protein pull-down assay, Kuroda et al. (2002) found that the isolated N-terminal SHD of human SLAC2B and mouse Slp2a (SYTL2; 612880) bound RAB27A (603868), but no other small GTP-binding protein examined. Coimmunoprecipitation analysis confirmed that full-length SLAC2B and SLP2A interacted specifically with RAB27A following transfection of COS-7 cells. McGrath et al. (2012) examined the cytoskeletal architecture of keratinocytes from patients with a truncating mutation in the EXPH5 gene (612878.0001) compared to SLAC2B-knockdown control keratinocytes, and observed disruption of the keratin filament network and more cortically distributed F-actin in both compared to wildtype. Keratinocyte adhesion assays demonstrated significantly reduced cell adhesion in both mutant and knockdown keratinocytes compared to controls. SLAC2B was also observed to colocalize with RAB27B (603869) and beta-4-integrin (147557) to early adhesion initiation sites in spreading normal keratinocytes.MOLECULAR GENETICS
In 3 affected sibs from a consanguineous Iraqi family segregating autosomal recessive inherited skin fragility (615028) with clinicopathologic features that were not diagnostic for any particular subtype of epidermolysis bullosa (see 601001) and who were negative for mutation in the KRT5 (148040) and KRT14 (148066) genes, McGrath et al. (2012) identified homozygosity for a 1-bp deletion (612878.0001) in the EXPH5 gene. ... More on the omim web site
Oct. 19, 2018: Protein entry updated
Automatic update: OMIM entry 612878 was added.
Oct. 19, 2018: Additional information
Initial protein addition to the database. This entry was referenced in Bryk and co-workers. (2017).