RalBP1-associated Eps domain-containing protein 1 (REPS1)

The protein contains 796 amino acids for an estimated molecular weight of 86662 Da.

 

May coordinate the cellular actions of activated EGF receptors and Ral-GTPases. (updated: March 4, 2015)

Protein identification was indicated in the following studies:

  1. Goodman and co-workers. (2013) The proteomics and interactomics of human erythrocytes. Exp Biol Med (Maywood) 238(5), 509-518.
  2. 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.
  3. 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.
  4. Bryk and co-workers. (2017) Quantitative Analysis of Human Red Blood Cell Proteome. J Proteome Res. 16(8), 2752-2761.

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.

PublicationIdentification 1Uniprot mapping 2Not mapped /
Obsolete
TrEMBLSwiss-Prot
Goodman (2013)2289 (gene list)227853205992269
Lange (2014)123412347281224
Hegedus (2015)2638262202352387
Wilson (2016)165815281702911068
d'Alessandro (2017)18261817201815
Bryk (2017)20902060101081942
Chu (2018)18531804553621387

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.

No sequence conservation computed yet.

This protein is annotated as membranous in Gene Ontology.


Interpro domains
Total structural coverage: 48%
Model score: 0
No model available.

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VariantDescription
NBIA7
NBIA7

The reference OMIM entry for this protein is 614825

Ralbp1-associated eps domain-containing protein 1; reps1

CLONING

By large-scale sequencing of clones obtained from a human fetal brain cDNA library, followed by database analysis, Xu et al. (2001) identified the human ortholog of mouse Reps1. The deduced 744-amino acid REPS1 protein has a calculated molecular mass of 85 kD. It has a central EPS15 (600051) homology (EH) domain containing 2 EF hand motifs, followed by 2 proline-rich motifs. Mouse and human REPS1 share 83% amino acid identity. Northern blot analysis detected variable expression of an approximately 2.8-kb REPS1 transcript in all 16 human tissues examined, with highest expression in heart and testis. Cullis et al. (2002) showed that fluorescence-tagged mouse Reps1 colocalized with rat Rab11fip2 (608599) at recycling endosomes in the perinuclear region of transfected NIH3T3 cells.

GENE FUNCTION

By yeast 2-hybrid and mutation analyses, Cullis et al. (2002) showed that the isolated EH domain of mouse Reps1 interacted with the NPF motifs of rat Rab11fip2. These 2 proteins appeared to function together in inhibiting the recycling of Egf receptors (EGFR; 131550), but not transferrin receptors (TFRC; 190010). Both Reps1 and Rab11fip2 also coprecipitated with the alpha-adaptin (AP2A1; 601026) subunit of the major clathrin adaptor complex AP2.

GENE STRUCTURE

Xu et al. (2001) determined that the REPS1 gene contains 20 exons and spans over 44 kb.

MAPPING

By genomic sequence analysis, Xu et al. (2001) mapped the REPS1 gene to chromosome 6q23.1-q24.1. ... More on the omim web site

Subscribe to this protein entry history

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 614825 was added.