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词条 C11orf1
释义

  1. Species distribution

  2. Gene

  3. Protein

      Structure    Predicted properties    Tissue distribution    Binding partners  

  4. References

  5. External links

  6. Further reading

{{Infobox_gene}}Chromosome 11 open reading frame one, also known as C11orf1, is a protein-coding gene.[1] It has been found by yeast two hybrid screen to bind to SETDB1 a histone protein methyltranferase enzyme. SETDB1 has been implicated in Huntington's disease, a neurodegenerative disorder.[2]

C11orf1 is a nuclear protein with unknown function but has been shown to show preferential expression in some disease states in microarray data.[3][4]

Species distribution

C11orf1 shows conservation through mammals and orthologs can be found in sea squirts and sea anemone. The below table shows some orthologs found using BLAST.[5]

SpeciesOrganism Common NameNCBI AccessionSequence IdentityExpected valueLength (AAs)Gene Common Name
Homo sapiensHuman[https://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=CAG33659 CAG33659]100%8e−86150C11orf1
Bos taurusBovine[https://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NP_001033266.1 NP_001033266.1]85%1e−70149UPF0686 protein C11orf1 homolog
Canis lupus familiarisDog[https://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=XP_536577.1 XP_536577.1]88%3e−68485PREDICTED: hypothetical protein XP_536577 [Canis familiaris]
Mus musculusMouse[https://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NP_075972.2 NP_075972.2]78%4e−65466hypothetical protein LOC68721 [Mus musculus]
Ciona intestinalisSea Squirt[https://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=XP_002127073.1 XP_002127073.1]49%3e−23156PREDICTED: similar to predicted protein [Ciona intestinalis]

Gene

C11orf1 is located on chromosome 11 and is neighbored by:

  • FDXACB1-201
  • ALG9-201
  • ALG9-202
  • AP001781.5-201

Protein

Structure

This protein is part of the UPF0686 superfamily. This family is characterized by the presence of a domain of unknown function (DUF)1143 shared by the family.[6] This family DUF1143 has a domain that includes almost all,149, of the 150 amino acids in the human ortholog. C11orf1 has six spicesomal variants and one unspliced variant.

Predicted properties

The following properties of C11orf1 were predicted using bioinformatic analysis:

  • Molecular Weight: 17.76 KDal[7]
  • Isoelectric point: 7.28[8]
  • Post-translational modification: twelve possible post-translational modifications are predicted:
    • Two O-(N-acetylaminogalactosyl)-L-threonine Glycosylations at position 138 and 142 on the protein sequence[9]
    • Two O-phospho-L-serine Phosphorylation sites at 112 and 141.[9]
    • Four O-phospho-L-threonine Phosphorylation sites at 59, 99, 113, and 138.[9]
    • Four O4'-phospho-L-tyrosine Phosphorylation sites at 64, 101, 105 and 143.[9]

Tissue distribution

C11orf1 appears to be ubiquitously expressed at low levels but particularly high expression in the parathyroid. Expression data indicate expression in most tissues.[10] This gene has also been found in one experiment to be under expressed in Huntington's disease patients while SETDB1 is over-expressed.[3]

Binding partners

The human protein SET domain bifurcated 1, was found to be a binding partner for C11orf1 by Yeast Two Hybrid.[11]

References

1. ^{{cite web | title = Entrez Gene: C11orf1| url =https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=64776| accessdate = }}
2. ^{{cite journal | vauthors = Thomas EA, Coppola G, Desplats PA, Tang B, Soragni E | title = CThe HDAC inhibitor 4b ameliorates the disease phenotype and transcriptional abnormalities in Huntington’s disease transgenic mice. | journal = Proc. Natl. Acad. Sci. USA | volume = 105 | issue = 1 | pages = 15564–69 |date=June 2008 | pmid = 18829438 | pmc = 2563081| doi = 10.1073/pnas.0804249105| url = | issn = |display-authors=etal}}
3. ^1 {{cite web |title= E-AFMX-6: Transcription profiling of caudate nucleus, frontal cortex, and cerebellum samples from 44 Huntingtons disease HD-gene-positive cases and 36 age- and sex-matched controls|url=http://www.ebi.ac.uk/microarray-as/atlas/gene?gid=ENSG00000137720}}
4. ^{{cite journal | vauthors = O'Brien KP, Tapia-Páez I, Ståhle-Bäckdahl M, Kedra D, Dumanski JP | title = Characterization of five novel human genes in the 11q13-q22 region | journal = Biochemical and Biophysical Research Communications | volume = 273 | issue = 1 | pages = 90–4 |date=June 2000 | pmid = 10873569 | doi = 10.1006/bbrc.2000.2910 | url = | issn = }}
5. ^{{cite web | url = http://blast.ncbi.nlm.nih.gov/Blast.cgi | title = BLAST: Basic Local Alignment Search Tool | date = | format = | work = | publisher = National Center for Biotechnology Information, United States National Institutes of Health | pages = | language = | archiveurl = | archivedate = | quote = | accessdate = 2009-05-07}}
6. ^{{cite web |title= CDD: Conserved Domain Database (NCBI) |url=https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=115278|accessdate = }}
7. ^{{cite journal | vauthors = Brendel V, Bucher P, Nourbakhsh IR, Blaisdell BE, Karlin S | title = Methods and algorithms for statistical analysis of protein sequences | journal = Proceedings of the National Academy of Sciences of the United States of America | volume = 89 | issue = 6 | pages = 2002–6 |date=March 1992 | pmid = 1549558 | pmc = 48584 | doi = 10.1073/pnas.89.6.2002| url = | issn = }}
8. ^{{cite journal|last1=Kozlowski|first1=LP|title=IPC - Isoelectric Point Calculator.|journal=Biology Direct|date=21 October 2016|volume=11|issue=1|pages=55|doi=10.1186/s13062-016-0159-9|pmid=27769290| url =http://isoelectric.ovh.org|pmc=5075173}}
9. ^1 2 3 {{cite web |title=UniProt Database |url=https://www.uniprot.org/uniprot/Q9H5F2}}
10. ^{{cite web |title=Unigene (EST profile viewer) Human C11orf1 |url= https://www.ncbi.nlm.nih.gov/UniGene/ESTProfileViewer.cgi?uglist=Hs.17546}}
11. ^{{cite web | url = https://www.ncbi.nlm.nih.gov/protein/168984228?log$=seqview_refseq_protein | title = SET domain, bifurcated 1 [Homo sapiens] | date = | format = | work = Protein | publisher = National Center for Biotechnology Information, United States National Institutes of Health | pages = | language = | archiveurl = | archivedate = | quote = | accessdate = 2009-05-10}}

External links

  • {{UCSC gene info|C11orf1}}

Further reading

{{refbegin | 2}}
  • {{cite journal |vauthors=Stelzl U, Worm U, Lalowski M |title=A human protein-protein interaction network: a resource for annotating the proteome. |journal=Cell |volume=122 |issue= 6 |pages= 957–68 |year= 2005 |pmid= 16169070 |doi= 10.1016/j.cell.2005.08.029 |display-authors=etal}}
  • {{cite journal |vauthors=Strausberg RL, Feingold EA, Grouse LH |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2002 |pmid= 12477932 |doi= 10.1073/pnas.242603899 |pmc=139241 |display-authors=etal}}
  • {{cite journal |vauthors=O'Brien KP, Tapia-Páez I, Stãhle-Bäckdahl M |title=Characterization of five novel human genes in the 11q13-q22 region. |journal=Biochem. Biophys. Res. Commun. |volume=273 |issue= 1 |pages= 90–4 |year= 2000 |pmid= 10873569 |doi= 10.1006/bbrc.2000.2910 |display-authors=etal}}
  • {{cite journal |vauthors=Gerhard DS, Wagner L, Feingold EA |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 |pmc=528928 |display-authors=etal}}
  • {{cite journal |vauthors=Ota T, Suzuki Y, Nishikawa T |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 |display-authors=etal}}
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