Band 4.1-like protein 2 (EPB41L2)

The protein contains 1005 amino acids for an estimated molecular weight of 112588 Da.

 

Required for dynein-dynactin complex and NUMA1 recruitment at the mitotic cell cortex during anaphase (PubMed:23870127). (updated: Jan. 31, 2018)

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. 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.
  3. 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.
  4. 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.
  5. Bryk and co-workers. (2017) Quantitative Analysis of Human Red Blood Cell Proteome. J Proteome Res. 16(8), 2752-2761.
  6. D'Alessandro and co-workers. (2017) Red blood cell proteomics update: is there more to discover? Blood Transfus. 15(2), 182-187.

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, is annotated as membranous in UniProt.


Interpro domains
Total structural coverage: 29%
Model score: 33

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VariantDescription
dbSNP:rs2297852

The reference OMIM entry for this protein is 603237

Erythrocyte membrane protein 4.1-like 2; epb41l2
Nonerythroid protein 4.1, general type; 4.1g

DESCRIPTION

EPB41L2 is a member of the protein 4.1 family (see 607619). Members of this family function as adaptors linking transmembrane proteins to the cytoskeleton (summary by Yang et al., 2011).

CLONING

Erythrocyte membrane protein 4.1 (EPB41; 130500) is a well-characterized cytoskeletal protein. Several nonerythroid protein 4.1 homologs have been identified, including ezrin (123900), radixin (179410), and moesin (309845). Parra et al. (1998) used EST database searches and PCR to identify and clone a novel protein 4.1 homolog, termed 4.1G. The longest assembled cDNA sequence encoded a 1,005-amino acid polypeptide. 4.1G has a high level of similarity to EPB41 in its membrane-binding domain, spectrin/actin-binding domain, and C terminus. Northern blot analysis detected wide 4.1G gene expression among human tissues, with most tissues exhibiting a prominent mRNA of approximately 5 kb. Expression of 4.1G in COS cells revealed diffuse cytoplasmic and more intense perinuclear localization, a staining pattern significantly different from that of EPB41. By RT-PCR of mouse testis, Yang et al. (2011) identified 3 splice variants of 4.1G that differed from one another due to alternative splicing involving exons 16 through 18. None of the variants contained exons 14 and 15, and all downstream exons were spliced in-frame. Western blot analysis detected 4.1G expression in brain, lung, and testis, but not in liver, prostate, small intestine, kidney, or skeletal muscle. Multiple 4.1G bands were detected in lung and brain. Electron microscopy and immunofluorescence analysis of mouse testis revealed 4.1G expression along the membranes of seminiferous epithelium, where it colocalized with Necl4 (IGSF4C; 609744).

MAPPING

Parra et al. (1998) used fluorescence in situ hybridization to map the EPB41L2 gene to chromosome 6q22-q23.

GENE FUNCTION

Using coimmunoprecipitation analysis, Yang et al. (2011) found that 4.1G and Necl4 interacted directly in mouse testis. Mutation analysis revealed that full-length 4.1G bound to the cytoplasmic domain of Necl4.

ANIMAL MODEL

Yang et al. (2011) found that 4.1G knockout had no effect on embryonic development, health, or fertility of C57BL/6 mice. However, 4.1G knockout caused male sterility in C57BL/6 and 129/Sv hybrid mice. 4.1G -/- hybrid mice showed reduced testis weight, with abnormal seminiferous epithelia, absence of Sertoli/germ cell contacts, and immature or degenerated spermatogenic cells. 4.1G -/- hybrid testis showed normal Necl4 mRNA content, but reduced Necl4 protein and lack of Necl4 expression at Sertoli cell membranes. Yang et al. (2011) concluded that 4.1G is required for Necl4 protein stability and formation of Sertoli/germ cell contacts. ... More on the omim web site

Subscribe to this protein entry history

Feb. 5, 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

Nov. 23, 2017: Protein entry updated
Automatic update: Uniprot description updated

March 16, 2016: Protein entry updated
Automatic update: OMIM entry 603237 was added.