C11orf1

{{Short description|Protein-coding gene in the species Homo sapiens}}

Chromosome 11 open reading frame one, also known as C11orf1, is a protein-coding gene.{{cite web | title = Entrez Gene: C11orf1| url =https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=64776}} It has been found by yeast two hybrid screen to bind to SETDB1 a histone protein methyltransferase enzyme. SETDB1 has been implicated in Huntington's disease, a neurodegenerative disorder.{{cite journal | vauthors = Thomas EA, Coppola G, Desplats PA, Tang B, Soragni E | title = The 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| bibcode = 2008PNAS..10515564T |display-authors=etal| doi-access = free }}

C11orf1 is a nuclear protein with unknown function but has been shown to show preferential expression in some disease states in microarray data.{{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}}{{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 }}

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.{{cite web | url = http://blast.ncbi.nlm.nih.gov/Blast.cgi | title = BLAST: Basic Local Alignment Search Tool | publisher = National Center for Biotechnology Information, United States National Institutes of Health | access-date = 2009-05-07}}

class="wikitable" ! Species ! Organism Common Name ! NCBI Accession ! Sequence Identity ! Expected value ! Length (AAs) ! Gene Common Name
Homo sapiens	Human	[https://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=CAG33659 CAG33659]	100%	8e⁻⁸⁶	150	C11orf1
Bos taurus	Bovine	[https://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NP_001033266.1 NP_001033266.1]	85%	1e⁻⁷⁰	149	UPF0686 protein C11orf1 homolog
Canis lupus familiaris	Dog	[https://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=XP_536577.1 XP_536577.1]	88%	3e⁻⁶⁸	485	PREDICTED: hypothetical protein XP_536577 [Canis familiaris]
Mus musculus	Mouse	[https://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NP_075972.2 NP_075972.2]	78%	4e⁻⁶⁵	466	hypothetical protein LOC68721 [Mus musculus]
Ciona intestinalis	Sea Squirt	[https://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=XP_002127073.1 XP_002127073.1]	49%	3e⁻²³	156	PREDICTED: 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.{{cite web |title= CDD: Conserved Domain Database (NCBI) |url=https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=115278}} This family DUF1143 has a domain that includes almost all 149 of the 150 amino acids in the human ortholog. C11orf1 has six splicesomal variants and one unspliced variant.

= Predicted properties =

The following properties of C11orf1 were predicted using bioinformatic analysis:

Molecular Weight: 17.76 KDal{{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| bibcode = 1992PNAS...89.2002B | doi-access = free }}
Isoelectric point: 7.28{{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|pmc=5075173|doi-access=free }}
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{{cite web |title=UniProt Database |url=https://www.uniprot.org/uniprot/Q9H5F2}}
Two O-phospho-L-serine Phosphorylation sites at 112 and 141.
Four O-phospho-L-threonine Phosphorylation sites at 59, 99, 113, and 138.
Four O4'-phospho-L-tyrosine Phosphorylation sites at 64, 101, 105 and 143.

= 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.{{cite web |title=Unigene (EST profile viewer) Human C11orf1 |url= https://www.ncbi.nlm.nih.gov/UniGene/ESTProfileViewer.cgi?uglist=Hs.17546}} This gene has also been found in one experiment to be under expressed in Huntington's disease patients while SETDB1 is over-expressed.

= Binding partners =

The human protein SET domain bifurcated 1, was found to be a binding partner for C11orf1 by Yeast Two Hybrid.{{cite web | url = https://www.ncbi.nlm.nih.gov/protein/168984228?log$=seqview_refseq_protein | title = SET domain, bifurcated 1 [Homo sapiens] | work = Protein | publisher = National Center for Biotechnology Information, United States National Institutes of Health | access-date = 2009-05-10}}

References

External links

{{UCSC gene info|C11orf1}}