Wikipedia

FAM129C

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]

Gene

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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

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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, Polysphondyllum pallidum, and even a species of barley, Hordeum vulgare.

Species Common Name NCBI Accession # Sequence Length E value
Homo sapiens Human AAI67806 697 –––––––
Polysphondyllum pallidum Cellular slime mould ADBJ01000008.1 532 1.00E-05
Hordeum vulgare Barley AK366539.1 553 2.00E-04

Gene Expression

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FAM129C expression in dilated cardiomyopathy tissue
 
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

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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

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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

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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]

References

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  1. ^ a b "FAM129C Symbol Report - HUGO Gene Nomenclature Committee".
  2. ^ a b c "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. ^ a b 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. ^ a b c d "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. ^ a b "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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