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Interferon regulatory factor 2 binding protein like is a protein that in humans is encoded by the IRF2BPL gene.[5][6][7] Mutations are associated with neurological problems.[8]

IRF2BPL
Protein C14orf4 PDB 2cs3.png
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesIRF2BPL, C14orf4, EAP1, interferon regulatory factor 2 binding protein like, enhanced at puberty protein 1, NEDAMSS
External IDsOMIM: 611720 MGI: 2442463 HomoloGene: 11555 GeneCards: IRF2BPL
Gene location (Human)
Chromosome 14 (human)
Chr.Chromosome 14 (human)[1]
Chromosome 14 (human)
Genomic location for IRF2BPL
Genomic location for IRF2BPL
Band14q24.3Start77,024,543 bp[1]
End77,028,708 bp[1]
RNA expression pattern
PBB GE C14orf4 gnf1h01540 s at fs.png
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_024496

NM_145836

RefSeq (protein)

NP_078772

NP_665835

Location (UCSC)Chr 14: 77.02 – 77.03 MbChr 12: 86.88 – 86.88 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

ReferencesEdit

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000119669 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000034168 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:".
  4. ^ "Mouse PubMed Reference:".
  5. ^ Rampazzo A, Pivotto F, Occhi G, Tiso N, Bortoluzzi S, Rowen L, Hood L, Nava A, Danieli GA (Nov 2000). "Characterization of C14orf4, a novel intronless human gene containing a polyglutamine repeat, mapped to the ARVD1 critical region". Biochemical and Biophysical Research Communications. 278 (3): 766–74. doi:10.1006/bbrc.2000.3883. PMID 11095982.
  6. ^ Heger S, Mastronardi C, Dissen GA, Lomniczi A, Cabrera R, Roth CL, Jung H, Galimi F, Sippell W, Ojeda SR (Aug 2007). "Enhanced at puberty 1 (EAP1) is a new transcriptional regulator of the female neuroendocrine reproductive axis". The Journal of Clinical Investigation. 117 (8): 2145–54. doi:10.1172/JCI31752. PMC 1906733. PMID 17627301.
  7. ^ "IRF2BPL interferon regulatory factor 2 binding protein like [ Homo sapiens (human) ]".
  8. ^ Paul C. Marcogliese; et al. (2018). "IRF2BPL Is Associated with Neurological Phenotypes". American Journal of Human Genetics. 103 (2): 245–260. doi:10.1016/j.ajhg.2018.07.006. PMC 6081494. PMID 30057031.

External linksEdit

Further readingEdit

  • Bonaldo MF, Lennon G, Soares MB (Sep 1996). "Normalization and subtraction: two approaches to facilitate gene discovery". Genome Research. 6 (9): 791–806. doi:10.1101/gr.6.9.791. PMID 8889548.
  • Nagase T, Nakayama M, Nakajima D, Kikuno R, Ohara O (Apr 2001). "Prediction of the coding sequences of unidentified human genes. XX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro". DNA Research. 8 (2): 85–95. doi:10.1093/dnares/8.2.85. PMID 11347906.
  • Scott MP, Zappacosta F, Kim EY, Annan RS, Miller WT (Aug 2002). "Identification of novel SH3 domain ligands for the Src family kinase Hck. Wiskott-Aldrich syndrome protein (WASP), WASP-interacting protein (WIP), and ELMO1". The Journal of Biological Chemistry. 277 (31): 28238–46. doi:10.1074/jbc.M202783200. PMID 12029088.
  • Beausoleil SA, Jedrychowski M, Schwartz D, Elias JE, Villén J, Li J, Cohn MA, Cantley LC, Gygi SP (Aug 2004). "Large-scale characterization of HeLa cell nuclear phosphoproteins". Proceedings of the National Academy of Sciences of the United States of America. 101 (33): 12130–5. doi:10.1073/pnas.0404720101. PMC 514446. PMID 15302935.
  • Ballif BA, Villén J, Beausoleil SA, Schwartz D, Gygi SP (Nov 2004). "Phosphoproteomic analysis of the developing mouse brain". Molecular & Cellular Proteomics. 3 (11): 1093–101. doi:10.1074/mcp.M400085-MCP200. PMID 15345747.
  • Olsen JV, Blagoev B, Gnad F, Macek B, Kumar C, Mortensen P, Mann M (Nov 2006). "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks". Cell. 127 (3): 635–48. doi:10.1016/j.cell.2006.09.026. PMID 17081983.