FAM129C

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Niban-like protein 2. [1] (NLP2) is a protein that in humans is encoded by the FAM129C [1] gene. Paralogs of this gene include FAM129A, and FAM129B. [2] Its aliases include B-Cell Novel Protein 1 (BCNP1), and Family with Sequence Similarity 129 Member C (FAM129C). [3] [4]

Contents

Gene

FAM129C gene location on chromosome 19, genomic context FAM129C gene location 19p13.11, National Center for Biotechnology Information,.png
FAM129C gene location on chromosome 19, genomic context

The FAM129C gene is 30,538 base pairs long and is mapped to 19p.13.112 on chromosome 19 (NC_000019.10) from 17523301 to 17553839 in humans. Chromosome 19 has highest gene density of all human chromosomes [5] and large clustered gene families corresponding to high G + C content, CpG islands, and high-density repetitive DNA suggest evolutionary significance for genes located here. [5] Based on location and expression of FAM129C gene, this would suggest it has a role in immune system function.

Gene conservation

True orthologs of FAM129C seem to be highly conserved in mammals, reptiles, marsupials, bony and cartilaginous fish. The most distant ortholog of FAM129C were found to be in a cellular slime mould, Polysphondyllumpallidum, and even a species of barley, Hordeumvulgare.

SpeciesCommon NameNCBI Accession #Sequence LengthE value
Homo sapiens Human AAI67806 697–––––––
Polysphondyllum pallidum Cellular slime mould ADBJ01000008.1 5321.00E-05
Hordeum vulgare Barley AK366539.1 5532.00E-04

Gene Expression

FAM129C expression in dilated cardiomyopathy tissue Fam129c Dilated cardiomyopathy.png
FAM129C expression in dilated cardiomyopathy tissue
p300 genetic reduction model of Rubinstein-Taybi syndrome: hippocampus Fam129c Rubinstein-Taybi.png
p300 genetic reduction model of Rubinstein-Taybi syndrome: hippocampus

In normal tissues, the highest expression was in lymph, bone marrow, and spleen tissue, with low expression in other parts of the human body. [6] [7] FAM129C contains pleckstrin homology domain that may cause the protein to associate with the plasma membrane. [8] It is expressed in early stages of B-cell differentiation, and in high levels in chronic lymphocytic leukemia, and in the activated subtype of diffuse large B-cell lymphoma. [9] FAM129C is mainly expressed in the cytoplasm. [2] The pattern of expression is similar to that of CXCR4, so may be involved in B cell development and B cell maturation during germinal center reaction. [8]

In the human GEO profile, FAM129C appears to be expressed at lower levels in tissues with dilated cardiomyopathy by almost 50% when compared to non-failing septum tissue. [10] This may mean that FAM129C plays a role in non-failing heart tissue. Another condition in which FAM129C is significantly down-regulated is with the wild-type genotype hippocampal tissue of Rubinstein-Taybi compared with the p300 +/- genotype. [11] People with this condition have an increased risk of developing noncancerous and cancerous tumors such as leukemia and lymphoma

Protein

The isoelectric point of NLP2 is 8.576000. [12] The molecular weight is 77.4 kdal. [12] The amino acid sequence is 697aa long [2]

Structure

The predicted tertiary structure for NLP2 shows the FAM129C PH domain. There are seven predicted β sheets at the N terminus. [8] [13] This will form the tertiary structure of the pleckstrin homology domain. [8]

Protein Post-Modification

Transmembrane domains, peptide cleavage sites, or strong glycosylation sites were not predicted for NLP2. [14] [15] [16] [17] [18] [19] A total of 32 likely phosphorylation sites were predicted on Serine (25,) Threonine (5), and Tyrosine (2). [20]

Related Research Articles

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References

  1. 1 2 "FAM129C Symbol Report - HUGO Gene Nomenclature Committee".
  2. 1 2 3 "NIBAN3 Gene - GeneCards | NIBA3 Protein | NIBA3 Antibody".
  3. ↑ "NCBI - WWW Error Blocked Diagnostic". www.ncbi.nlm.nih.gov. Retrieved 2015-05-08.
  4. ↑ "FAM129C - Niban-like protein 2 - Homo sapiens (Human)". www.uniprot.org. Retrieved 2015-05-08.
  5. 1 2 Grimwood, Jane; Gordon, Laurie A.; Olsen, Anne; Terry, Astrid; Schmutz, Jeremy; Lamerdin, Jane; Hellsten, Uffe; Goodstein, David; Couronne, Olivier (Apr 1, 2004). "The DNA sequence and biology of human chromosome 19". Nature. 428 (6982): 529–535. Bibcode:2004Natur.428..529G. doi: 10.1038/nature02399 . ISSN   1476-4687. PMID   15057824.
  6. ↑ "OMIM Entry - * 609967 - B-CELL NOVEL PROTEIN 1". omim.org. Retrieved 2015-05-08.[ permanent dead link ]
  7. ↑ "NCBI - WWW Error Blocked Diagnostic". www.ncbi.nlm.nih.gov. Retrieved 2015-05-09.
  8. 1 2 3 4 "Leicester Research Archive: Preliminary Characterisation of FAM129C, a Novel Protein Identified from Proteomic Screening of CLL Samples". lra.le.ac.uk. Retrieved 2015-05-08.
  9. ↑ Boyd, R. S.; Adam, P. J.; Patel, S.; Loader, J. A.; Berry, J.; Redpath, N. T.; Poyser, H. R.; Fletcher, G. C.; Burgess, N. A. (2003). "Proteomic analysis of the cell-surface membrane in chronic lymphocytic leukemia: identification of two novel proteins, BCNP1 and MIG2B". Leukemia. 17 (8): 1605–1612. doi:10.1038/sj.leu.2402993. ISSN   0887-6924. PMID   12886250.
  10. ↑ "NCBI - WWW Error Blocked Diagnostic". www.ncbi.nlm.nih.gov. Retrieved 2015-05-09.
  11. ↑ "NCBI - WWW Error Blocked Diagnostic". www.ncbi.nlm.nih.gov. Retrieved 2015-05-09.
  12. 1 2 "SDSC Biology Workbench". seqtool.sdsc.edu. Archived from the original on 2003-08-11. Retrieved 2015-05-09.
  13. ↑ Kelley, Lawrence. "PHYRE2 Protein Fold Recognition Server". www.sbg.bio.ic.ac.uk. Retrieved 2015-05-09.
  14. ↑ "TMHMM Server, v. 2.0". www.cbs.dtu.dk. Retrieved 2015-05-09.
  15. ↑ "SignalP 4.1 Server". www.cbs.dtu.dk. Retrieved 2015-05-09.
  16. ↑ "TargetP 1.1 Server". www.cbs.dtu.dk. Retrieved 2015-05-09.
  17. ↑ "ProP 1.0 Server". www.cbs.dtu.dk. Retrieved 2015-05-09.
  18. ↑ "NetNGlyc 1.0 Server". www.cbs.dtu.dk. Retrieved 2015-05-09.
  19. ↑ "DISULFIND - Cysteines Disulfide Bonding State and Connectivity Predictor". disulfind.dsi.unifi.it. Archived from the original on 2015-04-27. Retrieved 2015-05-09.
  20. ↑ "NetPhos 2.0 Server - prediction results". www.cbs.dtu.dk. Retrieved 2015-05-09.
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