GTPase NRas (NRAS)

The protein contains 189 amino acids for an estimated molecular weight of 21229 Da.

 

Ras proteins bind GDP/GTP and possess intrinsic GTPase activity. (updated: April 1, 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. 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.
  7. Chu and co-workers. (2018) Quantitative mass spectrometry of human reticulocytes reveal proteome-wide modifications during maturation. Br J Haematol. 180(1), 118-133.

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: 100%
Model score: 100
No model available.

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VariantDescription
leukemia
KNEN and JMML
RALD and JMML
CMNS and colorectal cancer
KNEN
NS6
NS6
CMNS and NCMS
CMNS, NCMS, KNEN and NMTC2

The reference OMIM entry for this protein is 137550

Melanocytic nevus syndrome, congenital; cmns
Giant pigmented hairy nevus; gphn
Giant congenital pigmented nevus
Pigmented moles nevus spilus, included
Spitz nevus, included

A number sign (#) is used with this entry because congenital melanocytic nevus syndrome (CMNS) is caused by somatic mutation in the NRAS gene (164790) on chromosome 1p13. Two other forms of benign melanocytic proliferation, nevus spilus and Spitz nevus, are caused by somatic mutation in the HRAS gene (190020) on chromosome 11p15.

DESCRIPTION

Congenital melanocytic nevus syndrome is characterized by pigmentary skin defects apparent at birth. Most individuals have 1 or more large or giant lesions greater than 20 cm and up to over 60 cm in diameter, which may cover up to 80% of total body area. These lesions may or may not be hairy. Smaller 'satellite' pigmented lesions numbering in the hundreds may also be present all over the body. Congenital melanocytic nevi (CMN) can be associated with malignant melanoma (see CMM1, 155600), but the risk appears to be low, ranging from 1 to 2% for all individuals, but rising to 10 to 15% in those with very large nevi (greater than 40 cm). A small subset of patients with CMNS have abnormalities of the central nervous system, known as 'neurocutaneous melanosis' or 'neuromelanosis' (249400), which may be symptomatic. Patients with CMNS also tend to have a characteristic facial appearance, including wide or prominent forehead, periorbital fullness, small short nose with narrow nasal bridge, round face, full cheeks, prominent premaxilla, and everted lower lip (summary by Kinsler et al., 2008; Kinsler et al., 2012). Spitz nevi are benign melanocytic melanomas composed of epithelioid or spindle cell melanocytes. They usually present as solitary skin tumors but can occur in multiple patterns, having agminated, dermatomal, and disseminated forms (summary by Sarin et al., 2013). Nevus spilus, also known as speckled lentiginous nevus, is a congenital hyperpigmented patch that progressively evolves, with affected individuals developing dark macules and papules during childhood and adolescence. Over time, nevus spilus may give rise to common lentigines, melanocytic nevi, Spitz nevi, and melanomas (summary by Sarin et al., 2014).

CLINICAL FEATURES

Hecht et al. (1981) reported 2 first-cousin infants, a boy and a girl, who were born with giant pigmented hairy nevus (GPHN) of the scalp. The diameter of the nevi in each child approximated half of the scalp area, and the hair was dark in the center and of normal texture. Both infants showed normal development. Biopsies showed no evidence of malignancy. Ho et al. (1999) reported a girl with sporadic occurrence of GPHN. At birth, she was noted to have a large patch of dark, coarse, thick hair over the right temporoparietal region of the scalp extending to the right occiput. There was also a separate small 1-cm hairy nevus adjacent to the front fontanel, and 2 epidermal sebaceous nevi on the right temple. CT scan showed an absence of the cranial bone underlying the large hairy nevus, with a size of about 7 x 6 cm. The bony edges of the cranial defect were irregular. The skull defect showed gradual spontaneous regression over the next 2 years, and the patient had normal development and no seizures. Ho et al. (1999) postulated a dysregulation of growth at the cellular and extracellular matrix level resulting from paracrine effects. Stojanovic et al. (2000) reported a 21-year-old woman with extensive GPHN covering 20% of her total body surface. The lesions covered the trunk, upper and lower extremities, and the face. They were congenital, but there had bee ... 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

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

March 25, 2017: Additional information
No protein expression data in P. Mayeux work for NRAS

March 16, 2016: Protein entry updated
Automatic update: OMIM entry 137550 was added.

Jan. 28, 2016: Protein entry updated
Automatic update: model status changed

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