Biology:CIROZ
 Generic protein structure example |
Ciliated left-right organizer ZP-N domains-containing protein is a protein which in humans is encoded by the gene CIROZ (previously C1orf127).[1] It is involved in the development of the heart and in particular the process of establishing left-right asymmetry.[1] Related to this, genetic mutations in humans have been associated with this process getting disrupted (called situs ambiguus), often including inborn heart defects.[2]
It has become a non-functional pseudogene in certain non-human animals including birds and reptiles.[3]
Gene
CIROZ is located on the short arm of Chromosome 1 (1p36.22), spanning 35,566 base pairs from 10946471 to 10982037. It is oriented on the minus strand of the chromosome.
mRNA
The primary assembly has 13 exons, and yields an 823 amino acid protein product. There are two known isoforms caused by alternative splicing.[4]
Protein
The CIROZ protein is a member of the Ensembl protein family TF607005.[5] The primary assembly weighs 89 kDa with an isoelectric point of 5.54, making it both longer and heavier than the average protein.[6]
Domains and Motifs
CIROZ contains two protein domains: DUF4556 and PHA03247, a domain in the Atrophin-1 superfamily.[7] The functions of both domains are unknown. The protein also appears to have a cleavable signal peptide from Met1 to Pro18.[8]
Subcellular Localization
The CIROZ protein is suggested to be localized to the extracellular matrix in humans.[8]
Protein-Protein Interactions
CIROZ is suggested to interact with a few different proteins, including CCT3, a molecular chaperone, and CCT6B, also a molecular chaperone found in the testis.[1]
Expression
CIROZ is not constitutively expressed, but it is expressed at low to medium levels in a variety of tissues. Greatest expression is observed in the stomach and pancreas.[9] It is also thought to be expressed in certain areas of both the developing and adult brain, such as the cerebellum, as well as skeletal muscle tissue, the testis, cardiac muscle, and throughout the digestive system.
Little else is known about this gene's expression, however a 2012 paper published in the World Journal of Gastroenterology suggested that its mis-expression could be used as a diagnostic marker locus in the detection of cancer[10]
References
- ↑ 1.0 1.1 1.2 "CIROZ gene Ciliated Left-Right Organizer Protein Containing ZP-N Domains". LifeMap Sciences Inc.. https://www.genecards.org/card/CIROZ.
- ↑ "Heterotaxy, Visceral, 14, Autosomal (HTX14)". LifeMap Sciences Inc.. https://www.malacards.org/card/heterotaxy_visceral_14_autosomal.
- ↑ "Q8N9H9 · CIROZ_HUMAN". UniProt consortium. https://www.uniprot.org/uniprotkb/Q8N9H9/entry.
- ↑ "C1orf127 chromosome 1 open reading frame 127 [ Homo sapiens (human) "]. National Center for Biotechnology Information. https://www.ncbi.nlm.nih.gov/gene/148345.
- ↑ "Gene: C1orf127". http://useast.ensembl.org/Homo_sapiens/Gene/Family?db=core;g=ENSG00000175262;r=1:10946471-10982037.
- ↑ Molecular Cell Biology (5th ed.). New York, New York: WH Freeman and Company. 2004.
- ↑ "Conserved domains on uncharacterized protein precursor C1orf127". National Center for Biotechnology Information. https://www.ncbi.nlm.nih.gov/Structure/cdd/wrpsb.cgi?SEQUENCE=282721090&FULL.
- ↑ 8.0 8.1 "PSORT II". https://psort.hgc.jp/form2.html.
- ↑ "C1orf127 chromosome open reading frame 127 [Homo sapiens (human)"]. https://www.ncbi.nlm.nih.gov/gene/148345.
- ↑ "Loss of fragile histidine triad and amplification of 1p36.22 and 11p15.5 in primary gastric adenocarcinomas". World Journal of Gastroenterology 18 (33): 4522–32. September 2012. doi:10.3748/wjg.v18.i33.4522. PMID 22969225.
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