Rab GTPase-activating protein 1-like (RABGAP1L)

The protein contains 815 amino acids for an estimated molecular weight of 92513 Da.

 

GTP-hydrolysis activating protein (GAP) for small GTPase RAB22A, converting active RAB22A-GTP to the inactive form RAB22A-GDP (PubMed:16923123). Plays a role in endocytosis and intracellular protein transport. Recruited by ANK2 to phosphatidylinositol 3-phosphate (PI3P)-positive early endosomes, where it inactivates RAB22A, and promotes polarized trafficking to the leading edge of the migrating cells. Part of the ANK2/RABGAP1L complex which is required for the polarized recycling of fibronectin receptor ITGA5 ITGB1 to the plasma membrane that enables continuous directional cell migration (By similarity). (updated: Nov. 22, 2017)

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. Bryk and co-workers. (2017) Quantitative Analysis of Human Red Blood Cell Proteome. J Proteome Res. 16(8), 2752-2761.
  5. 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.

Interpro domains
Total structural coverage: 40%
Model score: 28

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VariantDescription
dbSNP:rs7339904

The reference OMIM entry for this protein is 609238

Rab gtpase-activating protein 1-like; rabgap1l
Tbc1 domain family, member 18; tbc1d18
Kiaa0471

CLONING

By sequencing clones obtained from a size-fractionated brain cDNA library, Seki et al. (1997) cloned RABGAP1L, which they designated KIAA0471. The transcript contains an Alu element in the 3-prime UTR. The deduced protein contains 370 amino acids. SDS-PAGE detected RABGAP1L at an apparent molecular mass of about 50 kD. Using RT-PCR, Ishikawa et al. (1997) found ubiquitous RABGAP1L expression. Highest expression was in placenta, liver, kidney, and small intestine, and lowest expression was in skeletal muscle and spleen. Hidaka et al. (2000) cloned mouse Rabgap1l, which they designated Hhl. The deduced 298-amino acid protein contains a PTB domain and shares homology with the N terminus of human GAPCENA (RABGAP1; 615882). Northern blot analysis detected several Rabgap1l transcripts expressed in a tissue-specific manner. In situ hybridization of day-14.5 embryos revealed expression in heart and liver.

GENE FUNCTION

By differential display, Sharma et al. (2003) found that RABGAP1L expression was upregulated in esophageal squamous cell carcinomas compared with matched normal esophageal epithelial tissue. In particular, RABGAP1L expression was upregulated in esophageal tumors showing nodal invasion.

MAPPING

By radiation hybrid analysis, Ishikawa et al. (1997) mapped the RABGAP1L gene to chromosome 1.

MOLECULAR GENETICS

Most patients with Alzheimer disease (AD; 104300) are considered sporadic late-onset cases with a complex etiology. By differential display RT-PCR analysis, De Yebra et al. (2004) found inhibition of RABGAP1L expression in medial septum and hippocampus in 3 of 6 AD patients, including 1 with a PSEN1 (104311) mutation. ... More on the omim web site

Subscribe to this protein entry history

Feb. 10, 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

March 16, 2016: Protein entry updated
Automatic update: OMIM entry 609238 was added.

Feb. 24, 2016: Protein entry updated
Automatic update: model status changed