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NIBAN3

From Wikipedia, the free encyclopedia

NIBAN3
Identifiers
AliasesNIBAN3, BCNP1, family with sequence similarity 129 member C, niban apoptosis regulator 3, FAM129C
External IDsOMIM: 609967; MGI: 3686743; GeneCards: NIBAN3
Orthologs
DatabasesNCBI: entry; OMA: entry
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001166213
NM_001384129

RefSeq (protein)

n/a

Location (UCSC)Chr 19: 17.52 – 17.55 MbChr 8: 71.6 – 71.61 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Protein Niban 3 is a protein that in humans is encoded by the gene NIBAN3 (previously FAM129C).[5][6] Not much has been reported about the function of this protein, but it has been found expressed in B-Cells.[7] It has also been called Niban-like protein 2.[7] Paralogs of this gene include NIBAN1 and NIBAN2.[8]

Gene

[edit]
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[9] 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.[9] Based on location and expression of FAM129C gene, this would suggest it has a role in immune system function.

Gene conservation

[edit]

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

[edit]
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.[10][11] FAM129C contains pleckstrin homology domain that may cause the protein to associate with the plasma membrane.[12] 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.[13] FAM129C is mainly expressed in the cytoplasm.[8] 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.[12]

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.[14] 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.[15] People with this condition have an increased risk of developing noncancerous and cancerous tumors such as leukemia and lymphoma

Protein

[edit]

The isoelectric point of NLP2 is 8.576000.[16] The molecular weight is 77.4 kdal.[16] The amino acid sequence is 697aa long[8]

Structure

[edit]

The predicted tertiary structure for NLP2 shows the FAM129C PH domain. There are seven predicted β sheets at the N terminus.[12][17] This will form the tertiary structure of the pleckstrin homology domain.[12]

Protein post-modification

[edit]

Transmembrane domains, peptide cleavage sites, or strong glycosylation sites were not predicted for NLP2.[18][19][20][21][22][23] A total of 32 likely phosphorylation sites were predicted on Serine (25,) Threonine (5), and Tyrosine (2).[24]

References

[edit]
  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000167483 – Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000043243 – Ensembl, May 2017
  3. ↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ↑ "FAM129C Symbol Report - HUGO Gene Nomenclature Committee".
  6. ↑ "NIBAN3 niban apoptosis regulator 3 [Homo sapiens (Human)] - Gene - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2015-05-08.
  7. 1 2 "FAM129C - Niban-like protein 2 - Homo sapiens (Human)". UniProt. Retrieved 2015-05-08.
  8. 1 2 3 "NIBAN3 Gene - GeneCards | NIBA3 Protein | NIBA3 Antibody".
  9. 1 2 Grimwood J, Gordon LA, Olsen A, Terry A, Schmutz J, Lamerdin J, et al. (April 2004). "The DNA sequence and biology of human chromosome 19". Nature. 428 (6982): 529–535. Bibcode:2004Natur.428..529G. doi:10.1038/nature02399. PMID 15057824.
  10. ↑ "OMIM Entry - * 609967 - B-Cell Novel Protein 1". omim.org. Retrieved 2015-05-08.[permanent dead link]
  11. ↑ Thierry-Mieg D, Thierry-Mieg J. "AceView: Gene:FAM129C, a comprehensive annotation of human, mouse and worm genes with mRNAs or ESTsAceView". www.ncbi.nlm.nih.gov. Retrieved 2015-05-09.
  12. 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.
  13. ↑ Boyd RS, Adam PJ, Patel S, Loader JA, Berry J, Redpath NT, et al. (August 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. PMID 12886250.
  14. ↑ "GDS2206 / IMAGp998J015620". www.ncbi.nlm.nih.gov. Retrieved 2015-05-09.
  15. ↑ "GDS3598 / 1457728_at". www.ncbi.nlm.nih.gov. Retrieved 2015-05-09.
  16. 1 2 "SDSC Biology Workbench". seqtool.sdsc.edu. Archived from the original on 2003-08-11. Retrieved 2015-05-09.
  17. ↑ Kelley L. "PHYRE2 Protein Fold Recognition Server". www.sbg.bio.ic.ac.uk. Retrieved 2015-05-09.
  18. ↑ "TMHMM Server, v. 2.0". www.cbs.dtu.dk. Retrieved 2015-05-09.
  19. ↑ "SignalP 4.1 Server". www.cbs.dtu.dk. Retrieved 2015-05-09.
  20. ↑ "TargetP 1.1 Server". www.cbs.dtu.dk. Retrieved 2015-05-09.
  21. ↑ "ProP 1.0 Server". www.cbs.dtu.dk. Retrieved 2015-05-09.
  22. ↑ "NetNGlyc 1.0 Server". www.cbs.dtu.dk. Retrieved 2015-05-09.
  23. ↑ "DISULFIND - Cysteines Disulfide Bonding State and Connectivity Predictor". disulfind.dsi.unifi.it. Archived from the original on 2015-04-27. Retrieved 2015-05-09.
  24. ↑ "NetPhos 2.0 Server - prediction results". www.cbs.dtu.dk. Retrieved 2015-05-09.